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Sample records for proximal brachial amyotrophic

  1. Amyotrophic Lateral Sclerosis Regional Variants (Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulbar Amyotrophic Lateral Sclerosis).

    PubMed

    Jawdat, Omar; Statland, Jeffrey M; Barohn, Richard J; Katz, Jonathan S; Dimachkie, Mazen M

    2015-11-01

    Amyotrophic lateral sclerosis (ALS), a rapidly progressive, invariably fatal disease, involves mixed upper and lower motor neurons in different spinal cord regions. Patients with bulbar onset progress more rapidly than patients with limb onset or with a lower motor neuron presentation. Recent descriptions of regional variants suggest some patients have ALS isolated to a single spinal region for many years, including brachial amyotrophic diplegia, leg amyotrophic diplegia, and isolated bulbar palsy. Clearer definitions of regional variants will have implications for prognosis, understanding the pathophysiology of ALS, identifying genetic factors related to slower disease progression, and future planning of clinical trials.

  2. Electrodiagnosis of brachial plexopathies and proximal upper extremity neuropathies.

    PubMed

    Simmons, Zachary

    2013-02-01

    This article describes the normal anatomy of the brachial plexus and its major terminal branches, as well as the major causes and clinical presentations of lesions of these structures. An approach to electrodiagnosis of brachial plexopathies and proximal upper extremity neuropathies is provided, with an emphasis on those nerve conduction studies and portions of the needle examination, which permit localization of lesions to specific trunks, cords, and terminal branches. The importance of specific sensory nerve conduction studies for differentiating plexopathies from radiculopathies and mononeuropathies is emphasized.

  3. Consideration of Dose Limits for Organs at Risk of Thoracic Radiotherapy: Atlas for Lung, Proximal Bronchial Tree, Esophagus, Spinal Cord, Ribs, and Brachial Plexus

    SciTech Connect

    Kong, Feng-Ming; Ritter, Timothy; Quint, Douglas J.; Senan, Suresh; Gaspar, Laurie E.; Komaki, Ritsuko U.; Hurkmans, Coen W.; Timmerman, Robert; Bezjak, Andrea; Bradley, Jeffrey D.; Movsas, Benjamin; Marsh, Lon; Okunieff, Paul; Choy, Hak; Curran, Walter J.

    2011-12-01

    Purpose: To review the dose limits and standardize the three-dimenional (3D) radiographic definition for the organs at risk (OARs) for thoracic radiotherapy (RT), including the lung, proximal bronchial tree, esophagus, spinal cord, ribs, and brachial plexus. Methods and Materials: The present study was performed by representatives from the Radiation Therapy Oncology Group, European Organization for Research and Treatment of Cancer, and Soutwestern Oncology Group lung cancer committees. The dosimetric constraints of major multicenter trials of 3D-conformal RT and stereotactic body RT were reviewed and the challenges of 3D delineation of these OARs described. Using knowledge of the human anatomy and 3D radiographic correlation, draft atlases were generated by a radiation oncologist, medical physicist, dosimetrist, and radiologist from the United States and reviewed by a radiation oncologist and medical physicist from Europe. The atlases were then critically reviewed, discussed, and edited by another 10 radiation oncologists. Results: Three-dimensional descriptions of the lung, proximal bronchial tree, esophagus, spinal cord, ribs, and brachial plexus are presented. Two computed tomography atlases were developed: one for the middle and lower thoracic OARs (except for the heart) and one focusing on the brachial plexus for a patient positioned supine with their arms up for thoracic RT. The dosimetric limits of the key OARs are discussed. Conclusions: We believe these atlases will allow us to define OARs with less variation and generate dosimetric data in a more consistent manner. This could help us study the effect of radiation on these OARs and guide high-quality clinical trials and individualized practice in 3D-conformal RT and stereotactic body RT.

  4. CONSIDERATION OF DOSE LIMITS FOR ORGANS AT RISK OF THORACIC RADIOTHERAPY: ATLAS FOR LUNG, PROXIMAL BRONCHIAL TREE, ESOPHAGUS, SPINAL CORD, RIBS, AND BRACHIAL PLEXUS

    PubMed Central

    Kong, Feng-Ming (Spring); Ritter, Timothy; Quint, Douglas J.; Senan, Suresh; Gaspar, Laurie E.; Komaki, Ritsuko U.; Hurkmans, Coen W.; Timmerman, Robert; Bezjak, Andrea; Bradley, Jeffrey D.; Movsas, Benjamin; Marsh, Lon; Okunieff, Paul; Choy, Hak; Curran, Walter J.

    2012-01-01

    Purpose To review the dose limits and standardize the three-dimenional (3D) radiographic definition for the organs at risk (OARs) for thoracic radiotherapy (RT), including the lung, proximal bronchial tree, esophagus, spinal cord, ribs, and brachial plexus. Methods and Materials The present study was performed by representatives from the Radiation Therapy Oncology Group, European Organization for Research and Treatment of Cancer, and Soutwestern Oncology Group lung cancer committees. The dosimetric constraints of major multicenter trials of 3D-conformal RT and stereotactic body RT were reviewed and the challenges of 3D delineation of these OARs described. Using knowledge of the human anatomy and 3D radiographic correlation, draft atlases were generated by a radiation oncologist, medical physicist, dosimetrist, and radiologist from the United States and reviewed by a radiation oncologist and medical physicist from Europe. The atlases were then critically reviewed, discussed, and edited by another 10 radiation oncologists. Results Three-dimensional descriptions of the lung, proximal bronchial tree, esophagus, spinal cord, ribs, and brachial plexus are presented. Two computed tomography atlases were developed: one for the middle and lower thoracic OARs (except for the heart) and one focusing on the brachial plexus for a patient positioned supine with their arms up for thoracic RT. The dosimetric limits of the key OARs are discussed. Conclusions We believe these atlases will allow us to define OARs with less variation and generate dosimetric data in a more consistent manner. This could help us study the effect of radiation on these OARs and guide high-quality clinical trials and individualized practice in 3D-conformal RT and stereotactic body RT. PMID:20934273

  5. Brachial plexus

    MedlinePlus

    The brachial plexus is a group of nerves that run from the lower neck through the upper shoulder area. These ... Damage to the brachial plexus nerves can cause muscle and sensation problems that are often associated with pain in the same area. Symptoms may ...

  6. Brachial Plexus Injuries

    MedlinePlus

    ... Diversity Find People About NINDS NINDS Brachial Plexus Injuries Information Page Synonym(s): Erb's Palsy Table of Contents ( ... done? Clinical Trials Organizations What are Brachial Plexus Injuries? The brachial plexus is a network of nerves ...

  7. Brachial plexus injury in newborns

    MedlinePlus

    ... palsy; Obstetrical brachial plexus palsy; Birth-related brachial plexus palsy; Neonatal brachial plexus palsy; NBPP ... The nerves of the brachial plexus can be affected during a ... may be caused by: The infant's head and neck pulling toward the ...

  8. Posterior subscapular dissection: An improved approach to the brachial plexus for human anatomy students.

    PubMed

    Hager, Shaun; Backus, Timothy Charles; Futterman, Bennett; Solounias, Nikos; Mihlbachler, Matthew C

    2014-05-01

    Students of human anatomy are required to understand the brachial plexus, from the proximal roots extending from spinal nerves C5 through T1, to the distal-most branches that innervate the shoulder and upper limb. However, in human cadaver dissection labs, students are often instructed to dissect the brachial plexus using an antero-axillary approach that incompletely exposes the brachial plexus. This approach readily exposes the distal segments of the brachial plexus but exposure of proximal and posterior segments require extensive dissection of neck and shoulder structures. Therefore, the proximal and posterior segments of the brachial plexus, including the roots, trunks, divisions, posterior cord and proximally branching peripheral nerves often remain unobserved during study of the cadaveric shoulder and brachial plexus. Here we introduce a subscapular approach that exposes the entire brachial plexus, with minimal amount of dissection or destruction of surrounding structures. Lateral retraction of the scapula reveals the entire length of the brachial plexus in the subscapular space, exposing the brachial plexus roots and other proximal segments. Combining the subscapular approach with the traditional antero-axillary approach allows students to observe the cadaveric brachial plexus in its entirety. Exposure of the brachial dissection in the subscapular space requires little time and is easily incorporated into a preexisting anatomy lab curriculum without scheduling additional time for dissection.

  9. Brachial plexus (image)

    MedlinePlus

    The brachial plexus is a group of nerves that originate from the neck region and branch off to give rise ... movement in the upper limb. Injuries to the brachial plexus are common and can be debilitating. If the ...

  10. Brachial Plexus Injuries

    MedlinePlus

    ... to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms ... sensation in the arm or hand Brachial plexus injuries can occur as a result of shoulder trauma, ...

  11. Amyotrophic Lateral Sclerosis

    MedlinePlus

    Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your ... people with ALS die from respiratory failure. The disease usually strikes between age 40 and 60. More ...

  12. [Amyotrophic neuralgia associated with bilateral phrenic paralysis treated with non-invasive mechanical ventilation].

    PubMed

    García García, María Del Carmen; Hernández Borge, Jacinto; Antona Rodríguez, María José; Pires Gonçalves, Pedro; García García, Gema

    2015-09-01

    Amyotrophic neuralgia is an uncommon neuropathy characterized by severe unilateral shoulder pain. Isolated or concomitant involvement of other peripheral motor nerves depending on the brachial plexus such as phrenic or laryngeal nerves is unusual(1). Its etiology is unknown, yet several explanatory factors have been proposed. Phrenic nerve involvement, either unilateral or bilateral, is exceedingly rare. Diagnosis relies on anamnesis, functional and imaging investigations and electromyogram. We report the case of a 48-year-old woman with a past history of renal transplantation due to proliferative glomerulonephritis with subsequent transplant rejection, who was eventually diagnosed with amyotrophic neuralgia with bilateral phrenic involvement, and who required sustained non-invasive mechanical ventilation.

  13. The breathing hand: obstetric brachial plexopathy reinnervation from thoracic roots?

    PubMed

    Friedenberg, S M; Hermann, R C

    2004-01-01

    It has been found that in cases of obstetric brachial plexopathy, injured phrenic nerve or C3/4/5 roots may sprout into the adjacent injured upper and middle trunks of the brachial plexus. This aberrant regeneration produces co-contraction of the diaphragm and proximal upper limb muscles. This phenomenon, referred to as respiratory synkinesis or "the breathing arm", may not be limited to the upper cervical roots. We present two cases, identified through electromyographic investigations, of respiratory synkinesis selectively affecting intrinsic hand muscles, and propose that upper thoracic roots and their intercostal nerves may also produce respiratory synkinesis, resulting in a "breathing hand." This novel brand of synkinesis indicates that obstetric brachial plexus neuropathies can have quite proximal nerve injury in all trunks. The findings in our patients may not be entirely unique. The time required to develop distal muscle synkinesis and the subtle nature of our findings may suggest that with time and the assistance of EMG the breathing hand may be more common. When considering brachial plexus surgery, the significance of respiratory synkinesis should not be overlooked as its presence indicates injury at a root or proximal trunk level and may come from either nerves destined for the diaphragm or for the intercostal muscles.

  14. Conjugal amyotrophic lateral sclerosis

    PubMed Central

    Dewitt, John D.; Kwon, Julia; Burton, Rebecca

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a disease characterized by progressive degeneration of motor neurons in the motor cortex, brainstem, and spinal cord. The incidence of sporadic ALS is 1.5 to 2.7 in 100,000, and the prevalence is 5.2 to 6.0 in 100,000. Conjugal ALS is even rarer than sporadic ALS. We report a case of conjugal ALS encountered in our outpatient neurology clinic. PMID:22275781

  15. A Novel Approach to Brachial Plexus Catheter Management: A Brachial Plexus Test Dose for Phrenic Nerve Paralysis and Patient-Controlled, Demand-Only Dosing for a Patient With Extreme Obesity.

    PubMed

    Meier, Adam W; Lin, Shin-E; Hanson, Neil A; Auyong, David B

    2016-09-15

    A 53-year-old woman with extreme obesity (body mass index = 82 kg/m) presented for an open reduction and internal fixation of the proximal humerus. This report describes the novel management of her continuous brachial plexus catheter in the setting of her comorbidities. Phrenic nerve paralysis from brachial plexus blocks can cause clinically significant dyspnea in obese patients. Brachial plexus catheters can be used effectively for these patients with some modification to routine management. We detail our use of a short-acting chloroprocaine test dose for phrenic paralysis and demand-only dosing to provide effective analgesia while avoiding respiratory complications associated with these blocks. PMID:27464944

  16. Ultrasound guided axillary brachial plexus block.

    PubMed

    Ranganath, Anil; Srinivasan, Karthikeyan Kallidaikurichi; Iohom, Gabriella

    2014-09-01

    The axillary brachial plexus block is the most widely performed upper limb block. It is relatively simple to perform and one of the safest approaches to brachial plexus block. With the advent of ultrasound technology, there is a marked improvement in the success rate of the axillary block. This review will focus on the technique of ultrasound guided axillary brachial plexus block. PMID:25110766

  17. [Amyotrophic neuralgia associated with bilateral phrenic paralysis treated with non-invasive mechanical ventilation].

    PubMed

    García García, María Del Carmen; Hernández Borge, Jacinto; Antona Rodríguez, María José; Pires Gonçalves, Pedro; García García, Gema

    2015-09-01

    Amyotrophic neuralgia is an uncommon neuropathy characterized by severe unilateral shoulder pain. Isolated or concomitant involvement of other peripheral motor nerves depending on the brachial plexus such as phrenic or laryngeal nerves is unusual(1). Its etiology is unknown, yet several explanatory factors have been proposed. Phrenic nerve involvement, either unilateral or bilateral, is exceedingly rare. Diagnosis relies on anamnesis, functional and imaging investigations and electromyogram. We report the case of a 48-year-old woman with a past history of renal transplantation due to proliferative glomerulonephritis with subsequent transplant rejection, who was eventually diagnosed with amyotrophic neuralgia with bilateral phrenic involvement, and who required sustained non-invasive mechanical ventilation. PMID:26049960

  18. Changes in Spinal Cord Architecture after Brachial Plexus Injury in the Newborn

    ERIC Educational Resources Information Center

    Korak, Klaus J.; Tam, Siu Lin; Gordon, Tessa; Frey, Manfred; Aszmann, Oskar C.

    2004-01-01

    Obstetric brachial plexus palsy is a devastating birth injury. While many children recover spontaneously, 20-25% are left with a permanent impairment of the affected limb. So far, concepts of pathology and recovery have focused on the injury of the peripheral nerve. Proximal nerve injury at birth, however, leads to massive injury-induced…

  19. Optineurin and amyotrophic lateral sclerosis.

    PubMed

    Maruyama, Hirofumi; Kawakami, Hideshi

    2013-07-01

    Amyotrophic lateral sclerosis is a devastating disease, and thus it is important to identify the causative gene and resolve the mechanism of the disease. We identified optineurin as a causative gene for amyotrophic lateral sclerosis. We found three types of mutations: a homozygous deletion of exon 5, a homozygous Q398X nonsense mutation and a heterozygous E478G missense mutation within its ubiquitin-binding domain. Optineurin negatively regulates the tumor necrosis factor-α-induced activation of nuclear factor kappa B. Nonsense and missense mutations abolished this function. Mutations related to amyotrophic lateral sclerosis also negated the inhibition of interferon regulatory factor-3. The missense mutation showed a cyotoplasmic distribution different from that of the wild type. There are no specific clinical symptoms related to optineurin. However, severe brain atrophy was detected in patients with homozygous deletion. Neuropathologically, an E478G patient showed transactive response DNA-binding protein of 43 kDa-positive neuronal intracytoplasmic inclusions in the spinal and medullary motor neurons. Furthermore, Golgi fragmentation was identified in 73% of this patient's anterior horn cells. In addition, optineurin is colocalized with fused in sarcoma in the basophilic inclusions of amyotrophic lateral sclerosis with fused in sarcoma mutations, and in basophilic inclusion body disease. These findings strongly suggest that optineurin is involved in the pathogenesis of amyotrophic lateral sclerosis.

  20. Amyotrophic lateral sclerosis mimic syndromes

    PubMed Central

    Ghasemi, Majid

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) misdiagnosis has many broad implications for the patient and the neurologist. Potentially curative treatments exist for certain ALS mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. Hence, it is important to exclude similar conditions. In this review, we discuss some of the important mimics of ALS. PMID:27326363

  1. Torticollis associated with neonatal brachial plexus palsy.

    PubMed

    Hervey-Jumper, Shawn L; Justice, Denise; Vanaman, Monique M; Nelson, Virginia S; Yang, Lynda J-S

    2011-11-01

    We investigate the incidence of torticollis associated with neonatal brachial plexus palsy, whether the severity of brachial plexus palsy affects outcomes and the rate of recovery. We performed a retrospective review of 128 consecutive neonatal brachial plexus palsy patients evaluated at the University of Michigan from 2005-2009. Patients were followed for at least 3 months, with regular physical examinations and imaging. Forty-three percent presented concurrently with torticollis. Significant differences were evident in mean age at first brachial plexus examination, suggesting that patients with concurrent torticollis present earlier for clinical examination. Recovery from torticollis was evident in 62% of patients by 23 ± 12 weeks with conservative management. No statistically significant differences were evident between torticollis and nontorticollis groups after reviewing their severity of neonatal brachial plexus palsy (Narakas score), recovery from neonatal brachial plexus palsy (biceps function at 6 months), need for nerve repair or reconstructive procedures, or infant, maternal, or other factors associated with labor. Results suggest that although torticollis occurs with increased frequency in children with brachial plexus palsy, its presence is not related to severity and does not affect the probability of recovery from brachial plexus palsy. Conservative management for torticollis yields reasonable recovery.

  2. Supracondylar process of the humerus causing brachial artery compression and digital embolization in a fast-pitch softball player. A case report.

    PubMed

    Thompson, J Keith; Edwards, John D

    2005-01-01

    The supracondylar process of the humerus is a rare abnormality found in 0.4-2.7% of the population. It has been documented to cause neurovascular compression in the upper extremity owing to its local impingement on the median nerve and brachial artery at its medial location on the humerus just proximal to the elbow. The authors report the first known case of digital ischemia from embolization of thrombus caused by local compression of the brachial artery attributed to a supracondylar process.

  3. A cadaveric microanatomical study of the fascicular topography of the brachial plexus.

    PubMed

    Sinha, Sumit; Prasad, G Lakshmi; Lalwani, Sanjeev

    2016-08-01

    OBJECT Mapping of the fascicular anatomy of the brachial plexus could provide the nerve surgeon with knowledge of fascicular orientation in spinal nerves of the brachial plexus. This knowledge might improve the surgical outcome of nerve grafting in brachial plexus injuries by anastomosing related fascicles and avoiding possible axonal misrouting. The objective of this study was to map the fascicular topography in the spinal nerves of the brachial plexus. METHODS The entire right-sided brachial plexus of 25 adult male cadavers was dissected, including all 5 spinal nerves (C5-T1), from approximately 5 mm distal to their exit from the intervertebral foramina, to proximal 1 cm of distal branches. All spinal nerves were tagged on the cranial aspect of their circumference using 10-0 nylon suture for orientation. The fascicular dissection of the C5-T1 spinal nerves was performed under microscopic magnification. The area occupied by different nerve fascicles was then expressed as a percentage of the total cross-sectional area of a spinal nerve. RESULTS The localization of fascicular groups was fairly consistent in all spinal nerves. Overall, 4% of the plexus supplies the suprascapular nerve, 31% supplies the medial cord (comprising the ulnar nerve and medial root of the median nerve [MN]), 27.2% supplies the lateral cord (comprising the musculocutaneous nerve and lateral root of the MN), and 37.8% supplies the posterior cord (comprising the axillary and radial nerves). CONCLUSIONS The fascicular dissection and definitive anatomical localization of fascicular groups is feasible in plexal spinal nerves. The knowledge of exact fascicular location might be translatable to the operating room and can be used to anastomose related fascicles in brachial plexus surgery, thereby avoiding the possibility of axonal misrouting and improving the results of plexal reconstruction.

  4. Neurinomas of the brachial plexus: case report.

    PubMed

    Forte, A; Gallinaro, L S; Bertagni, A; Montesano, G; Prece, V; Illuminati, G

    1999-01-01

    Neurinomas, also referred to as neurilemmomas and schwannomas, are rare benign tumours of the peripheral nerves, a low proportion of which arise from the brachial plexus. Authors report a case of an ancient schwannoma arising from the brachial plexus. The tumour, usually asymptomatic, may cause sensory radicular symptoms, or rarely motor deficits in the involved arm. Enucleation of the tumour from the nerve without damage to any of the fascicles is the correct treatment.

  5. Neurinomas of the brachial plexus: case report.

    PubMed

    Forte, A; Gallinaro, L S; Bertagni, A; Montesano, G; Prece, V; Illuminati, G

    1999-01-01

    Neurinomas, also referred to as neurilemmomas and schwannomas, are rare benign tumours of the peripheral nerves, a low proportion of which arise from the brachial plexus. Authors report a case of an ancient schwannoma arising from the brachial plexus. The tumour, usually asymptomatic, may cause sensory radicular symptoms, or rarely motor deficits in the involved arm. Enucleation of the tumour from the nerve without damage to any of the fascicles is the correct treatment. PMID:10710825

  6. Diffusion tensor imaging analysis of sequential spreading of disease in amyotrophic lateral sclerosis confirms patterns of TDP-43 pathology.

    PubMed

    Kassubek, Jan; Müller, Hans-Peter; Del Tredici, Kelly; Brettschneider, Johannes; Pinkhardt, Elmar H; Lulé, Dorothée; Böhm, Sarah; Braak, Heiko; Ludolph, Albert C

    2014-06-01

    Diffusion tensor imaging can identify amyotrophic lateral sclerosis-associated patterns of brain alterations at the group level. Recently, a neuropathological staging system for amyotrophic lateral sclerosis has shown that amyotrophic lateral sclerosis may disseminate in a sequential regional pattern during four disease stages. The objective of the present study was to apply a new methodological diffusion tensor imaging-based approach to automatically analyse in vivo the fibre tracts that are prone to be involved at each neuropathological stage of amyotrophic lateral sclerosis. Two data samples, consisting of 130 diffusion tensor imaging data sets acquired at 1.5 T from 78 patients with amyotrophic lateral sclerosis and 52 control subjects; and 55 diffusion-tensor imaging data sets at 3.0 T from 33 patients with amyotrophic lateral sclerosis and 22 control subjects, were analysed by a tract of interest-based fibre tracking approach to analyse five tracts that become involved during the course of amyotrophic lateral sclerosis: the corticospinal tract (stage 1); the corticorubral and the corticopontine tracts (stage 2); the corticostriatal pathway (stage 3); the proximal portion of the perforant path (stage 4); and two reference pathways. The statistical analyses of tracts of interest showed differences between patients with amyotrophic lateral sclerosis and control subjects for all tracts. The significance level of the comparisons at the group level was lower, the higher the disease stage with corresponding involved fibre tracts. Both the clinical phenotype as assessed by the amyotrophic lateral sclerosis functional rating scale-revised and disease duration correlated significantly with the resulting staging scheme. In summary, the tract of interest-based technique allowed for individual analysis of predefined tract structures, thus making it possible to image in vivo the disease stages in amyotrophic lateral sclerosis. This approach can be used not only for

  7. Proximal Nephron

    PubMed Central

    Zhuo, Jia L.; Li, Xiao C.

    2013-01-01

    The kidney plays a fundamental role in maintaining body salt and fluid balance and blood pressure homeostasis through the actions of its proximal and distal tubular segments of nephrons. However, proximal tubules are well recognized to exert a more prominent role than distal counterparts. Proximal tubules are responsible for reabsorbing approximately 65% of filtered load and most, if not all, of filtered amino acids, glucose, solutes, and low molecular weight proteins. Proximal tubules also play a key role in regulating acid-base balance by reabsorbing approximately 80% of filtered bicarbonate. The purpose of this review article is to provide a comprehensive overview of new insights and perspectives into current understanding of proximal tubules of nephrons, with an emphasis on the ultrastructure, molecular biology, cellular and integrative physiology, and the underlying signaling transduction mechanisms. The review is divided into three closely related sections. The first section focuses on the classification of nephrons and recent perspectives on the potential role of nephron numbers in human health and diseases. The second section reviews recent research on the structural and biochemical basis of proximal tubular function. The final section provides a comprehensive overview of new insights and perspectives in the physiological regulation of proximal tubular transport by vasoactive hormones. In the latter section, attention is particularly paid to new insights and perspectives learnt from recent cloning of transporters, development of transgenic animals with knockout or knockin of a particular gene of interest, and mapping of signaling pathways using microarrays and/or physiological proteomic approaches. PMID:23897681

  8. Brachial plexus anesthesia: an analysis of options.

    PubMed Central

    Brown, D. L.

    1993-01-01

    There are multiple sites at which the brachial plexus block can be induced in selecting regional anesthesia for upper extremity surgical patients. The most frequently used blocks are axillary, infraclavicular, supraclavicular, and interscalene. One must understand brachial plexus anatomy to use these blocks effectively, as well as the practical clinical differences between the blocks. Axillary brachial plexus block is most effective for surgical procedures distal to the elbow. This block is induced at a distance from both the centroneuraxis and the lung; thus, complications in those areas are avoided. Infraclavicular block is often the most effective method of maintaining a continuous block of the brachial plexus, since the catheter is easily secured to the anterior chest. Supraclavicular block provides anesthesia of the entire upper extremity in the most consistent, time-efficient manner of any brachial plexus technique; however, the block needle is necessarily positioned near the lung during injection. Interscalene block is especially effective for surgical procedures involving the shoulder or upper arm because the roots of the brachial plexus are most easily blocked with this technique. The final needle tip position with this block is potentially near the centroneuraxis and arteries perfusing the brain, thus careful aspiration of the needle and incremental injection are important. In summary, when an understanding of branchial plexus anatomy is combined with proper block technique and a patient- and procedure-specific balancing of risk-benefit, our patients and colleagues will be coadvocates of our branchial plexus regional blocks. Images Figure 2 Figure 3 Figure 6 Figure 7 Figure 8 Figure 9 PMID:7825342

  9. Leg Amyotrophic Diplegia: Prevalence and Pattern of Weakness at US Neuromuscular Centers

    PubMed Central

    Dimachkie, Mazen M.; Muzyka, Iryna M.; Katz, Jonathan S.; Jackson, Carlayne; Wang, Yunxia; McVey, April L.; Dick, Arthur; Pasnoor, Mamatha; Mozaffar, M. Tahseen; Xiao-Song, Z.; Kissel, John T.; Ensrud, E.; Rosenfeld, Jeffrey; Barohn, Richard J.

    2014-01-01

    Objective To identify the frequency of leg amyotrophic diplegia (LAD) at a US academic center, describe the pattern of weakness, and provide comparative data from 8 additional major US academic institutions. Background LAD is a leg onset variant of progressive muscular atrophy (PMA). LAD weakness is confined to the legs for at least 2 years and there are no upper motor neuron signs. Design/Methods We present a retrospective chart review of 24 patients with the LAD presentation from the University of Kansas Medical Center (KUMC, n=8 cases) and from eight US academic institutions (n=16 cases). Results Of 318 subjects identified in the KUMC Neuromuscular Research Database, 82% (260) had amyotrophic lateral sclerosis (ALS), 1.9% (6) had familial ALS, 6.6% (21) had primary lateral sclerosis, and 29 had LMN disease. Of these 29 cases, 16 had PMA, 5 had brachial amyotrophic diplegia, while 8 had LAD. The mean LAD age of onset was 58 years with a male/female ratio of 3/1. Onset was asymmetric in 7/8. We identified a pelviperoneal pattern of weakness (sparing of knee extension and/or ankle plantar flexion) in 4 cases and distal predominant weakness in 3. All patients had electrodiagnostic findings consistent with motor neuron disease confined to the lower extremities. We present LAD disease duration and survival data from eight major academic neuromuscular centers. At last follow up, weakness progressed to involve the arms in 6/24 LAD cases and of those two died from progression to typical ALS. From onset of symptoms, mean survival in LAD is 87 months, with 92% of cases being alive. Conclusions/Relevance The natural history of LAD differs from typical forms of ALS and PMA. LAD is a slowly progressive disorder that accounts for a fourth of LMN disease cases. An asymmetric pelviperoneal pattern of weakness should heighten the suspicion for LAD. PMID:23965403

  10. What has changed in brachial plexus surgery?

    PubMed Central

    de Rezende, Marcelo Rosa; Silva, Gustavo Bersani; de Paula, Emygdio José Leomil; Junior, Rames Mattar; de Camargo, Olavo Pires

    2013-01-01

    Brachial plexus injuries, in all their severity and complexity, have been extensively studied. Although brachial plexus injuries are associated with serious and often definitive sequelae, many concepts have changed since the 1950s, when this pathological condition began to be treated more aggressively. Looking back over the last 20 years, it can be seen that the entire approach, from diagnosis to treatment, has changed significantly. Some concepts have become better established, while others have been introduced; thus, it can be said that currently, something can always be offered in terms of functional recovery, regardless of the degree of injury. Advances in microsurgical techniques have enabled improved results after neurolysis and have made it possible to perform neurotization, which has undoubtedly become the greatest differential in treating brachial plexus injuries. Improvements in imaging devices and electrical studies have allowed quick decisions that are reflected in better surgical outcomes. In this review, we intend to show the many developments in brachial plexus surgery that have significantly changed the results and have provided hope to the victims of this serious injury. PMID:23644864

  11. [Percutaneous brachial access: a few simple considerations].

    PubMed

    Marcy, P Y; Ianessi, A; Ben Taarit, I

    2009-01-01

    This letter is with regards to the recently published article by Vidal et al. in the Journal Français de Radiologie Médicale. A clarification of US and venographic techniques of brachial venous catheterization and related complications are presented. The main indications for PICC line and subcutaneous port placement are described.

  12. What has changed in brachial plexus surgery?

    PubMed

    Rezende, Marcelo Rosa de; Silva, Gustavo Bersani; Paula, Emygdio José Leomil de; Mattar Junior, Rames; Camargo, Olavo Pires de

    2013-01-01

    Brachial plexus injuries, in all their severity and complexity, have been extensively studied. Although brachial plexus injuries are associated with serious and often definitive sequelae, many concepts have changed since the 1950s, when this pathological condition began to be treated more aggressively. Looking back over the last 20 years, it can be seen that the entire approach, from diagnosis to treatment, has changed significantly. Some concepts have become better established, while others have been introduced; thus, it can be said that currently, something can always be offered in terms of functional recovery, regardless of the degree of injury. Advances in microsurgical techniques have enabled improved results after neurolysis and have made it possible to perform neurotization, which has undoubtedly become the greatest differential in treating brachial plexus injuries. Improvements in imaging devices and electrical studies have allowed quick decisions that are reflected in better surgical outcomes. In this review, we intend to show the many developments in brachial plexus surgery that have significantly changed the results and have provided hope to the victims of this serious injury.

  13. Amyotrophic Lateral Sclerosis: A Historical Perspective.

    PubMed

    Katz, Jonathan S; Dimachkie, Mazen M; Barohn, Richard J

    2015-11-01

    This article looks back in time to see where the foundational basis for the understanding of amyotrophic lateral sclerosis originated. This foundation was created primarily in France by Jean-Martin Charcot and his fellow countrymen and disciples, along with key contributions from early clinicians in England and Germany. The early work on amyotrophic lateral sclerosis provides a useful foundation for today's clinicians with respect to tying together genetic and biologic aspects of the disorder that have been discovered over the past few decades.

  14. Retroviruses and amyotrophic lateral sclerosis

    PubMed Central

    Alfahad, Tariq; Nath, Avindra

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive, invariably fatal neurologic disorder resulting from upper and lower motor neuron degeneration, which typically develops during the sixth or seventh decade of life, and is diagnosed based on standard clinical criteria. Its underlying cause remains undetermined. The disease may occur with increased frequency within certain families, often in association with specific genomic mutations, while some sporadic cases have been linked to environmental toxins or trauma. Another possibility, first proposed in the 1970s, is that retroviruses play a role in pathogenesis. In this paper, we review the published literature for evidence that ALS is associated either with infection by an exogenous retrovirus or with the expression of human endogenous retroviral (HERV) sequences in cells of the central nervous system. A small percentage of persons infected with the human immunodeficiency virus-1 (HIV-1) or human T cell leukemia virus-1 (HTLV-1) develop ALS-like syndromes. While HTLV-1 associated ALS-like syndrome has several features that may distinguish it from classical ALS, HIV-infected patients may develop neurological manifestations that resemble classical ALS although it occurs at a younger age and they may show a dramatic improvement following the initiation of antiretroviral therapy. However, most patients with probable or definite ALS show no evidence of HIV-1 or HTLV-1 infection. In contrast, recent reports have shown a stronger association with HERV, as analysis of serum samples, and postmortem brain tissue from a number of patients with a classical ALS has revealed significantly increased expression of HERV-K, compared to controls. These findings suggest that endogenous retroviral elements are involved in the pathophysiology of ALS, but there is no evidence that they are the primary cause of the syndrome. PMID:23707220

  15. HIV-related neuromuscular diseases: nemaline myopathy, amyotrophic lateral sclerosis and bibrachial amyotrophic diplegia.

    PubMed

    Rowland, L P

    2011-06-01

    The human immunodeficiency virus (HIV) causes diverse disorders of the brain, spinal cord and peripheral nerves. Rarely, polymyositis and myoglobinuria are seen. Two other neuromuscular syndromes in people with HIV antibodies are nemaline myopathy and bibrachial amyotrophic diplegia, a form of motor neuron disease. The associations between these diseases and the possibility that HIV infection could be a risk factor for either amyotrophic lateral sclerosis (ALS) itself or other motor neuron diseases are investigated. PMID:21842590

  16. Shoulder pain and isolated brachial plexopathy.

    PubMed

    Kishan, Amar U; Syed, Sana; Fiorito-Torres, Franchesca; Thakore-James, Manisha

    2012-06-28

    Pancoast syndrome, classically considered as a constellation of (1) pain along the C8-T2 dermatomes, (2) weakness and atrophy of the hand and (3) Horner's syndrome, often presents a diagnostic challenge. In fact, it may manifest as a singular orthopaedic complaint, prompting a futile barrage of tests and referrals. The authors present the case of an elderly man who initially presented with severe shoulder pain. Due to progressive pain and weakness, he was referred to rheumatology and was treated with corticosteroid injections for a presumed musculoskeletal lesion. Ultimately, he manifested gross muscular atrophy and worsening pain, prompting a referral to neurology. An electromyogram (EMG) suggested a lower brachial plexopathy, and a follow-up brachial plexus MRI identified a large Pancoast tumour. Unfortunately, his disease was rapidly progressive, and he passed away within 2 months. While the MRI remains the gold standard for diagnosing Pancoast syndrome, an EMG can facilitate diagnosis in difficult cases such as this one.

  17. Complex anatomic variation in the brachial region.

    PubMed

    Troupis, Th; Michalinos, A; Protogerou, V; Mazarakis, A; Skandalakis, P

    2015-01-01

    Authors describe a case of a complex anatomic variation discovered during dissection of the humeral region. On the right side, brachial artery followed a superficial course. Musculocutaneous nerve did not pierce coracobrachialis muscle but instead passed below the muscle before continuing in the forearm. On the left side, a communication between musculocutaneous and median nerve was dissected. Those variations are analytically presented with a brief review on their anatomic and clinical implications. Considerations on their embryological origin are attempted.

  18. Proximity fuze

    DOEpatents

    Harrison, Thomas R.

    1989-08-22

    A proximity fuze system includes an optical ranging apparatus, a detonation circuit controlled by the optical ranging apparatus, and an explosive charge detonated by the detonation cirtcuit. The optical ranging apparatus includes a pulsed laser light source for generating target ranging light pulses and optical reference light pulses. A single lens directs ranging pulses to a target and collects reflected light from the target. An optical fiber bundle is used for delaying the optical reference pulses to correspond to a predetermined distance from the target. The optical ranging apparatus includes circuitry for providing a first signal depending upon the light pulses reflected from the target, a second signal depending upon the light pulses from the optical delay fiber bundle, and an output signal when the first and second signals coincide with each other. The output signal occurs when the distance from the target is equal to the predetermined distance form the target. Additional circuitry distinguishes pulses reflected from the target from background solar radiation.

  19. Proximity fuze

    DOEpatents

    Harrison, T.R.

    1987-07-10

    A proximity fuze system includes an optical ranging apparatus, a detonation circuit controlled by the optical ranging apparatus, and an explosive charge detonated by the detonation circuit. The optical ranging apparatus includes a pulsed laser light source for generating target ranging light pulses and optical reference light pulses. A single lens directs ranging pulses to a target and collects reflected light from the target. An optical fiber bundle is used for delaying the optical reference pulses to correspond to a predetermined distance from the target. The optical ranging apparatus includes circuitry for providing a first signal depending upon the light pulses reflected from the target, a second signal depending upon the light pulses from the optical delay fiber bundle, and an output signal when the first and second signals coincide with each other. The output signal occurs when the distance from the target is equal to the predetermined distance from the target. Additional circuitry distinguishes pulses reflected from the target from background solar radiation. 3 figs.

  20. Lightning strike-induced brachial plexopathy.

    PubMed

    Bhargava, Amita N; Kasundra, Gaurav M; Khichar, Subhakaran; Bhushan, Bharat S K

    2014-10-01

    We describe a patient who presented with a history of lightning strike injury. Following the injury, he sustained acute right upper limb weakness with pain. Clinically, the lesion was located to the upper and middle trunk of the right brachial plexus, and the same confirmed with electrophysiological studies. Nerve damage due to lightning injuries is considered very rare, and a plexus damage has been described infrequently, if ever. Thus, the proposed hypothesis that lightning rarely causes neuropathy, as against high-voltage electric current, due to its shorter duration of exposure not causing severe burns which lead to nerve damage, needs to be reconsidered. PMID:25288846

  1. Central Adaptation following Brachial Plexus Injury.

    PubMed

    Simon, Neil G; Franz, Colin K; Gupta, Nalin; Alden, Tord; Kliot, Michel

    2016-01-01

    Brachial plexus trauma (BPT) often affects young patients and may result in lasting functional deficits. Standard care following BPT involves monitoring for clinical and electrophysiological evidence of muscle reinnervation, with surgical treatment decisions based on the presence or absence of spontaneous recovery. Data are emerging to suggest that central and peripheral adaptation may play a role in recovery following BPT. The present review highlights adaptive and maladaptive mechanisms of central and peripheral nervous system changes following BPT that may contribute to functional outcomes. Rehabilitation and other treatment strategies that harness or modulate these intrinsic adaptive mechanisms may improve functional outcomes following BPT. PMID:26409073

  2. Lightning strike-induced brachial plexopathy.

    PubMed

    Bhargava, Amita N; Kasundra, Gaurav M; Khichar, Subhakaran; Bhushan, Bharat S K

    2014-10-01

    We describe a patient who presented with a history of lightning strike injury. Following the injury, he sustained acute right upper limb weakness with pain. Clinically, the lesion was located to the upper and middle trunk of the right brachial plexus, and the same confirmed with electrophysiological studies. Nerve damage due to lightning injuries is considered very rare, and a plexus damage has been described infrequently, if ever. Thus, the proposed hypothesis that lightning rarely causes neuropathy, as against high-voltage electric current, due to its shorter duration of exposure not causing severe burns which lead to nerve damage, needs to be reconsidered.

  3. Idiopathic brachial plexus neuritis after laparoscopic treatment of endometriosis: a complication that may mimic position-related brachial plexus injury.

    PubMed

    Minas, Vasileios; Aust, Thomas

    2013-01-01

    We report the case of a 37-year-old woman who developed idiopathic brachial plexus neuritis, also referred to as Parsonage-Turner syndrome, after laparoscopic excision of endometriosis. The differential diagnosis between this non-position-related neuritis and brachial plexus injury is discussed. The aim of this report was to raise awareness on this distressing postoperative complication. PMID:24183278

  4. Lateral approach for supraclavicular brachial plexus block

    PubMed Central

    Sahu, DK; Sahu, Anjana

    2010-01-01

    A lateral approach described by Volker Hempel and Dr. Dilip Kotharihas been further studied, evaluated and described in detail in the present study. The aim of this study was to evaluate lateral approach of supraclavicular brachial plexus block, mainly in terms of successes rate and complication rate. The study was conducted in secondary level hospital and tertiary level hospital from 2004 to 2008. It was a prospective nonrandomized open-level study. Eighty-two patients of both sexes, aged between 18 and 65 years with ASA Grade I and II scheduled to undergo elective major surgery of the upper limb below the midarm, were selected for this new lateral approach of brachial plexus block. The onset and duration of sensory and motor block, any complications and need for supplement anaesthesia were observed. Success and complication rate were calculated in percentage. Average onset and duration of sensory and motor block was calculated as mean ± SD and percentage. Out of 82 patients, 75 (92%) have got successful block with no significant complication in any case. PMID:20885867

  5. Shoulder pain and isolated brachial plexopathy

    PubMed Central

    Kishan, Amar U; Syed, Sana; Fiorito-Torres, Franchesca; Thakore-James, Manisha

    2012-01-01

    Pancoast syndrome, classically considered as a constellation of (1) pain along the C8–T2 dermatomes, (2) weakness and atrophy of the hand and (3) Horner's syndrome, often presents a diagnostic challenge. In fact, it may manifest as a singular orthopaedic complaint, prompting a futile barrage of tests and referrals. The authors present the case of an elderly man who initially presented with severe shoulder pain. Due to progressive pain and weakness, he was referred to rheumatology and was treated with corticosteroid injections for a presumed musculoskeletal lesion. Ultimately, he manifested gross muscular atrophy and worsening pain, prompting a referral to neurology. An electromyogram (EMG) suggested a lower brachial plexopathy, and a follow-up brachial plexus MRI identified a large Pancoast tumour. Unfortunately, his disease was rapidly progressive, and he passed away within 2 months. While the MRI remains the gold standard for diagnosing Pancoast syndrome, an EMG can facilitate diagnosis in difficult cases such as this one. PMID:22744250

  6. [Measurement ofthe ankle-brachial pressure index (ABPI)].

    PubMed

    Kulisić, Sandra Marinović

    2012-10-01

    Measurement of the ankle-brachial pressure index, also known as ankle-brachial index or ankle-arm index is a ratio of the ankle blood pressure and brachial blood pressure. It is easy to perform and allows for diagnosis and further definition of the severity of peripheral arterial disease with sensitivity 90% and specificity 98%. The test is not appropriate for mild arterial changes as in case of comorbidity. Its further objectives are to identify patients at an higher risk of cardiovascular events. PMID:23193828

  7. Brachial plexus injuries in neonates: an osteopathic approach.

    PubMed

    Mason, David C; Ciervo, Carman A

    2009-02-01

    Neonates and infants with brachial plexus injuries are typically treated using splinting, range-of-motion exercise, and, in more severe cases, nerve reconstruction. However, myofascial release--a common osteopathic manipulative treatment technique that has been used to manage thoracic outlet syndrome in adults--may provide effective, noninvasive management of brachial plexus injuries in neonates and infants. While emphasizing the importance of good communication with parents of affected patients, the authors review brachial plexus anatomy, describe diagnostic examinations, and outline a comprehensive treatment strategy. PMID:19269939

  8. High-fat and ketogenic diets in amyotrophic lateral sclerosis.

    PubMed

    Paganoni, Sabrina; Wills, Anne-Marie

    2013-08-01

    Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. Epidemiologic data suggest that malnutrition is a common feature in amyotrophic lateral sclerosis and being overweight or obese confers a survival advantage in this patient population. In amyotrophic lateral sclerosis mouse models, a high-fat diet has been shown to lead to weight gain and prolonged survival. However, little research has been conducted to test whether nutritional interventions might ameliorate the disease course in humans. Here we review the currently available evidence supporting the potential role of dietary interventions as a therapeutic tool for amyotrophic lateral sclerosis. Ultimately, determining whether a high-fat or ketogenic diet could be beneficial in amyotrophic lateral sclerosis will require large randomized, placebo-controlled clinical trials.

  9. Ankle-Brachial Index, Toe-Brachial Index, and Pulse Volume Recording in Healthy Young Adults

    PubMed Central

    Masaki, Hisao; Yunoki, Yasuhiro; Tabuchi, Atushi; Morita, Ichiro; Mohri, Satoshi; Tanemoto, Kazuo

    2015-01-01

    Objective: To clarify the characteristics of ankle-brachial index (ABI), toe-brachial index (TBI), and pulse volume recording (PVR) of the ankle with brachial-ankle pulse wave velocity (baPWV) in healthy young adults. Material and Methods: We analyzed ABI, TBI, baPWV, and PVR in the ankle of healthy adults aged 20 to 25 years (median, 20 years) using an automatic oscillometric device between 2002 and 2013. The ABI, baPWV, and PVR in 1282 legs of 641 subjects (301 men and 340 women) and the TBI in 474 toes of 237 subjects (117 men and 120 women) were evaluated. Results: The measured values showed no bilateral differences. ABI and baPWV were higher in men than in women, but TBI was similar in both sexes. ABI <1.0 was observed in 18.1% of the legs in men and in 25.6% in women. TBI <0.7 was observed in 16.2% of the toes in men and 19.1% in women. For ankle PVR, the % mean arterial pressure was higher in women than in men. The upstroke time was <180 ms in most subjects. Conclusions: For young people, ABI <1.0 or TBI <0.7 may not always indicate vascular abnormalities. When evaluating circulatory indexes, age and sex should be considered. PMID:26421072

  10. Electrodiagnosis in traumatic brachial plexus injury.

    PubMed

    Mansukhani, K A

    2013-01-01

    Electrodiagnosis (EDX) is a useful test to accurately localize the site, determine the extent, identify the predominant pathophysiology, and objectively quantify the severity of brachial plexopathies. It can also be used to examine muscles not easily assessed clinically and recognize minimal defects. Post-operatively and on follow up studies, it is important for early detection of re-innervation. It can be used intra-operatively to assess conduction across a neuroma, which would help the surgeon to decide further course of action. Localization of the site of the lesion can be very challenging as there may be multiple sites of involvement and hence the electroneuromyographic evaluation must be adequate. The unaffected limb also needs to be examined for comparison. The final impression must be co-related with the type and severity of injury.

  11. Birth brachial plexus palsy: a race against time.

    PubMed

    Patra, Sambeet; Narayana Kurup, Jayakrishnan K; Acharya, Ashwath M; Bhat, Anil K

    2016-01-01

    A 5-year-old child presented to us with weakness of the left upper limb since birth. With the given history of obstetric trauma and limb examination, a diagnosis of birth brachial plexus palsy was made. Brachial plexus exploration along with microsurgery was performed at the same time which included extrinsic neurolysis of the roots and trunks and nerve transfer for better shoulder external rotation and elbow flexion. Both the movements were severely restricted previously due to co-contractures with the shoulder internal rotators and triceps. The problem of birth brachial plexus palsy is proving to be a global health burden both in developed countries and in developing countries such as India. The lack of awareness among the general public and primary healthcare providers and inadequate orthopaedic and neurosurgeons trained to treat the condition have worsened the prognosis. This case lays stress on the delayed complications in birth brachial palsy and its effective management. PMID:27402656

  12. [Meningoencephalo-myeloradiculitis due to Flavivirus: bi-brachial paralysis and respiratory insufficiency].

    PubMed

    Kuntzer, T; de Marval, F; Ochsner, F; de Torrenté, A; Kuhn, M; Fitting, J W

    1995-04-01

    3 patients developed rapid onset of fever and nuchal stiffness. Paresis of brachial muscles occurred within 4 days and all patients had respiratory failure that needed mechanical ventilation. At the peak of the disease there were bilateral asymmetrical severe atrophy of brachial, shoulder and neck muscles, cranial nerve pareses and absent or weak deep reflexes in the upper extremities. CSF analyses showed sterile lymphocytic pleocytosis. In 2 cases the patients suffered a tick bite in Switzerland and the third was probably bitten by an insect while opening a package received from Indonesia. Patients had rapid defervescence and serological tests were found to be highly positive for IgM and then IgG ELISA FSME (Frühsommer-Meningoenzephalitis). The patients were ventilated for 2 to 5 weeks before a progressive improvement was seen. However, on follow-up at 12, 18 and 30 months respectively, proximal muscles were still atrophied and quite weak. Our cases underline that: (1) FSME-ELISA results may cross-react with the Japanese and Central European encephalitis virus species; (2) Flaviviruses do induce unusual and preferential long-term paralysis of the upper extremities simulating poliomyelitis; (3) in the 2 patients studied electrophysiologically, there were signs of axonal reinnervation not seen in lower motor neuron syndrome which were important for reinnervation to permit progressive, but late, motor improvement; (4) there is no evidence of extension of the endemic foci of tick-borne encephalitis in Switzerland. PMID:7709179

  13. [Myxoid/round cell liposarcoma of the brachial plexus].

    PubMed

    Giner, Javier; Isla, Alberto; Hernández, Borja; Nistal, Manuel

    2014-01-01

    Myxoid/round cell liposarcoma is a soft tissue sarcoma that is extremely rare in the brachial plexus. We report a case of a myxoid/round cell liposarcoma originating in the brachial plexus that was surgically resected and evolved well, with no deficit or recurrence after 2 years of follow-up. To date, there has been no other case of this sarcoma in the literature. PMID:25126709

  14. Limb preference in children with obstetric brachial plexus palsy.

    PubMed

    Yang, Lynda J-S; Anand, Praveen; Birch, Rolfe

    2005-07-01

    Brachial plexus palsy affects children differently than adults. In children with obstetric brachial plexus palsy, motor development must depend on nervous system adaptation. Previous studies report sensory plasticity in these children. This noninvasive study provides support for neural plasticity (the general ability of the brain to reorganize neural pathways based on new experiences) in children with obstetric brachial plexus palsy by considering upper limb preference. As in the general population, we expect that 90% of children would prefer their right upper limb. However, only 17% of children affected by right obstetric brachial plexus palsy prefer the right upper limb for overall movement; children with left obstetric brachial plexus palsy did not significantly differ from the general population in upper limb preference. This study also provides the first evidence of a significant correlation between actual task performance and select obstetric brachial plexus palsy outcome measurement systems, thereby justifying the routine use of these outcome measurement systems as a reflection of the practical utility of the affected limb to the patient. PMID:15876521

  15. Semantic deficits in amyotrophic lateral sclerosis.

    PubMed

    Leslie, Felicity V C; Hsieh, Sharpley; Caga, Jashelle; Savage, Sharon A; Mioshi, Eneida; Hornberger, Michael; Kiernan, Matthew C; Hodges, John R; Burrell, James R

    2015-03-01

    Our objective was to investigate, and establish neuroanatomical correlates of, semantic deficits in amyotrophic lateral sclerosis (ALS) and amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD), compared to semantic dementia (SD) and controls. Semantic deficits were evaluated using a naming and semantic knowledge composite score, comprising verbal and non-verbal neuropsychological measures of single-word processing (confrontational naming, comprehension, and semantic association) from the Sydney Language Battery (SYDBAT) and Addenbrooke's Cognitive Examination - Revised (ACE-R). Voxel based morphometry (VBM) analysis was conducted using the region of interest approach. In total, 84 participants were recruited from a multidisciplinary research clinic in Sydney. Participants included 17 patients with ALS, 19 with ALS-FTD, 22 with SD and 26 age- and education-matched healthy controls. Significant semantic deficits were observed in ALS and ALS-FTD compared to controls. The severity of semantic deficits varied across the clinical phenotypes: ALS patients were less impaired than ALS-FTD patients, who in turn were not as impaired as SD patients. Anterior temporal lobe atrophy significantly correlated with semantic deficits. In conclusion, semantic impairment is a feature of ALS and ALS-FTD, and reflects the severity of temporal lobe pathology.

  16. Amyotrophic lateral sclerosis: one or multiple causes?

    PubMed Central

    Bastos, Aline Furtado; Orsini, Marco; Machado, Dionis; Mello, Mariana Pimentel; Nader, Sergio; Silva, Júlio Guilherme; da Silva Catharino, Antonio M.; de Freitas, Marcos R.G.; Pereira, Alessandra; Pessoa, Luciane Lacerda; Sztajnbok, Flavio R.; Leite, Marco Araújo; Nascimento, Osvaldo J.M.; Bastos, Victor Hugo

    2011-01-01

    The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients. PMID:21785676

  17. Amyotrophic lateral sclerosis disease progression model.

    PubMed

    Gomeni, Roberto; Fava, Maurizio

    2014-03-01

    Our objective was to develop: 1) a longitudinal model to describe amyotrophic lateral sclerosis (ALS) disease progression using the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R); and 2) a probabilistic model to estimate the presence of clusters of trajectories in ALS progression over 12 months of treatment. Three hundred and thirty-eight patients treated with placebo from the PRO-ACT database were included in the analyses. A non-linear Weibull model best described the ALS disease progression, and a stepwise logistic regression approach was used to select the variables predicting a slow or fast disease progression. Results identified two clusters of trajectories: 1) slow disease progressors (46% of patients with a change from baseline of 13%); 2) fast disease progressors (54% of patients with a change from baseline of 49%). ROC curve analysis estimated the optimal cut-off for classifying patients as slow or fast disease progressors given ALSFRS-R measurements at 2-4 weeks. Results showed that the degree of ALS disease progression quantified by the ALSFRS-R symptomatic change on placebo is highly heterogeneous. In conclusion, this finding indicates the potential interest of disease progression models for implementing a population enrichment strategy to control the level of heterogeneity in the patients included in new trials.

  18. Factors affecting longitudinal functional decline and survival in amyotrophic lateral sclerosis patients.

    PubMed

    Watanabe, Hazuki; Atsuta, Naoki; Nakamura, Ryoichi; Hirakawa, Akihiro; Watanabe, Hirohisa; Ito, Mizuki; Senda, Jo; Katsuno, Masahisa; Izumi, Yuishin; Morita, Mitsuya; Tomiyama, Hiroyuki; Taniguchi, Akira; Aiba, Ikuko; Abe, Koji; Mizoguchi, Kouichi; Oda, Masaya; Kano, Osamu; Okamoto, Koichi; Kuwabara, Satoshi; Hasegawa, Kazuko; Imai, Takashi; Aoki, Masashi; Tsuji, Shoji; Nakano, Imaharu; Kaji, Ryuji; Sobue, Gen

    2015-06-01

    Our objective was to elucidate the clinical factors affecting functional decline and survival in Japanese amyotrophic lateral sclerosis (ALS) patients. We constructed a multicenter prospective ALS cohort that included 451 sporadic ALS patients in the analysis. We longitudinally utilized the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) as the functional scale, and determined the timing of introduction of a tracheostomy for positive-pressure ventilation and death. A joint modelling approach was employed to identify prognostic factors for functional decline and survival. Age at onset was a common prognostic factor for both functional decline and survival (p < 0.001, p < 0.001, respectively). Female gender (p = 0.019) and initial symptoms, including upper limb weakness (p = 0.010), lower limb weakness (p = 0.008) or bulbar symptoms (p = 0.005), were related to early functional decline, whereas neck weakness as an initial symptom (p = 0.018), non-use of riluzole (p = 0.030) and proximal dominant muscle weakness in the upper extremities (p = 0.01) were related to a shorter survival time. A decline in the ALSFRS-R score was correlated with a shortened survival time (p < 0.001). In conclusion, the factors affecting functional decline and survival in ALS were common in part but different to some extent. This difference has not been previously well recognized but is informative in clinical practice and for conducting trials.

  19. Through-and-through wire technique for endovascular damage control in traumatic proximal axillary artery transection.

    PubMed

    Rohlffs, Fiona; Larena-Avellaneda, Axel Antonio; Petersen, Jan Philipp; Debus, Eike Sebastian; Kölbel, Tilo

    2015-02-01

    Repair of blunt shoulder trauma with transection of the subclavian or proximal axillary artery poses a surgical challenge, especially in instable patients. Endovascular treatment for initial damage control in arterial transection has evolved as a promising technique to improve outcome, but technical success can be limited in cases of complete transection as the lesion cannot be passed by a guidewire. This report describes an endovascular approach using a through-and-through brachial-femoral wire to control complete traumatic transection of the proximal axillary artery in a hemodynamically unstable patient. Endovascular therapy is used as a bridging method for open surgical repair three days later under optimized conditions with an interdisciplinary team. The brachial-femoral guidewire technique helps to overcome limitations in endovascular therapy in patients with blunt traumatic transection of thoracic outlet arteries.

  20. Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.

    PubMed

    Vercruysse, Pauline; Sinniger, Jérôme; El Oussini, Hajer; Scekic-Zahirovic, Jelena; Dieterlé, Stéphane; Dengler, Reinhard; Meyer, Thomas; Zierz, Stephan; Kassubek, Jan; Fischer, Wilhelm; Dreyhaupt, Jens; Grehl, Torsten; Hermann, Andreas; Grosskreutz, Julian; Witting, Anke; Van Den Bosch, Ludo; Spreux-Varoquaux, Odile; Ludolph, Albert C; Dupuis, Luc

    2016-04-01

    Amyotrophic lateral sclerosis, the most common adult-onset motor neuron disease, leads to death within 3 to 5 years after onset. Beyond progressive motor impairment, patients with amyotrophic lateral sclerosis suffer from major defects in energy metabolism, such as weight loss, which are well correlated with survival. Indeed, nutritional intervention targeting weight loss might improve survival of patients. However, the neural mechanisms underlying metabolic impairment in patients with amyotrophic lateral sclerosis remain elusive, in particular due to the lack of longitudinal studies. Here we took advantage of samples collected during the clinical trial of pioglitazone (GERP-ALS), and characterized longitudinally energy metabolism of patients with amyotrophic lateral sclerosis in response to pioglitazone, a drug with well-characterized metabolic effects. As expected, pioglitazone decreased glycaemia, decreased liver enzymes and increased circulating adiponectin in patients with amyotrophic lateral sclerosis, showing its efficacy in the periphery. However, pioglitazone did not increase body weight of patients with amyotrophic lateral sclerosis independently of bulbar involvement. As pioglitazone increases body weight through a direct inhibition of the hypothalamic melanocortin system, we studied hypothalamic neurons producing proopiomelanocortin (POMC) and the endogenous melanocortin inhibitor agouti-related peptide (AGRP), in mice expressing amyotrophic lateral sclerosis-linked mutant SOD1(G86R). We observed lower Pomc but higher Agrp mRNA levels in the hypothalamus of presymptomatic SOD1(G86R) mice. Consistently, numbers of POMC-positive neurons were decreased, whereas AGRP fibre density was elevated in the hypothalamic arcuate nucleus of SOD1(G86R) mice. Consistent with a defect in the hypothalamic melanocortin system, food intake after short term fasting was increased in SOD1(G86R) mice. Importantly, these findings were replicated in two other amyotrophic

  1. Morphology of brachial plexus and axillary artery in bonobo (Pan paniscus).

    PubMed

    Kikuchi, Y; Oishi, M; Shimizu, D

    2011-02-01

    A left brachial plexus and axillary artery of bonobo (Pan paniscus) were examined, and the interrelation between the brachial plexus and the axillary artery was discussed. This is the first report of the brachial plexus and the axillary artery of bonobo. The bonobo brachial plexus formed very similar pattern to that of other ape species and human. On the other hand, the branches of the bonobo axillary artery had uncommon architecture in comparison with human case. The axillary artery did not penetrate the brachial plexus and passes through all way along anterior to the brachial plexus. Only 4.9% of human forelimbs have this pattern. Moreover, the brachial artery runs through superficially anterior to branches of the brachial plexus.

  2. Hyperimmune goat serum for amyotrophic lateral sclerosis.

    PubMed

    Mackenzie, R; Kiernan, M; McKenzie, D; Youl, B D

    2006-12-01

    The authors report a patient with amyotrophic lateral sclerosis (ALS) who showed a lessening of deterioration in respiratory muscle strength during treatment with hyperimmune goat serum (HGS) (Aimspro). Respiratory function tests (RFTs) were measured by established protocols, and all measurements were expressed as a percentage of normal predicted values. The rate of decline was calculated by linear regression analysis. Respiratory muscle strength decline was less during 13 months of treatment with HGS (mean 1.3% per month, range 0.8-1.7%) compared to the preceding 13 months (mean 2.3% per month, range 1.2-3.1%), while a greater decline would be expected with disease progression. Comparison with similarly affected patients in the literature suggest that a decline of 4-5% per month of predicted values may be expected during the treatment phase.

  3. Electrodiagnosis in persons with amyotrophic lateral sclerosis.

    PubMed

    Joyce, Nanette C; Carter, Gregory T

    2013-05-01

    Electrophysiology remains an important tool in the evaluation of patients presenting with signs and symptoms of motor neuron disease. The electrodiagnostic study should include peripheral nerve conduction studies and needle electromyography to both exclude treatable disease and gather evidence regarding a diagnosis of amyotrophic lateral sclerosis (ALS). The recent changes in the revised El Escorial criteria, recommended by the Awaji-shima consensus group, have increased the diagnostic significance of fasciculation potentials to equal that of fibrillation and positive sharp-wave potentials in the needle electromyography examination of patients suspected of having ALS. In addition, electrophysiologic evidence is now considered equivalent to clinical signs and symptoms in reaching a diagnostic certainty of ALS. These changes, strategies for the design, and implementation of an effective electrodiagnostic evaluation, in addition to electrophysiologic techniques and their relationship to the evaluation of a patient with ALS, are reviewed and discussed.

  4. Motoneuron firing in amyotrophic lateral sclerosis (ALS)

    PubMed Central

    de Carvalho, Mamede; Eisen, Andrew; Krieger, Charles; Swash, Michael

    2014-01-01

    Amyotrophic lateral sclerosis is an inexorably progressive neurodegenerative disorder involving the classical motor system and the frontal effector brain, causing muscular weakness and atrophy, with variable upper motor neuron signs and often an associated fronto-temporal dementia. The physiological disturbance consequent on the motor system degeneration is beginning to be well understood. In this review we describe aspects of the motor cortical, neuronal, and lower motor neuron dysfunction. We show how studies of the changes in the pattern of motor unit firing help delineate the underlying pathophysiological disturbance as the disease progresses. Such studies are beginning to illuminate the underlying disordered pathophysiological processes in the disease, and are important in designing new approaches to therapy and especially for clinical trials. PMID:25294995

  5. A comprehensive review of amyotrophic lateral sclerosis

    PubMed Central

    Zarei, Sara; Carr, Karen; Reiley, Luz; Diaz, Kelvin; Guerra, Orleiquis; Altamirano, Pablo Fernandez; Pagani, Wilfredo; Lodin, Daud; Orozco, Gloria; Chinea, Angel

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5–10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease. PMID:26629397

  6. Amyotrophic lateral sclerosis and environmental factors

    PubMed Central

    Bozzoni, Virginia; Pansarasa, Orietta; Diamanti, Luca; Nosari, Guido; Cereda, Cristina; Ceroni, Mauro

    2016-01-01

    Summary Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that affects central and peripheral motor neuron cells. Its etiology is unknown, although a relationship between genetic background and environmental factors may play a major role in triggering the neurodegeneration. In this review, we analyze the role of environmental factors in ALS: heavy metals, electromagnetic fields and electric shocks, pesticides, β-N-methylamino-L-alanine, physical activity and the controversial role of sports. The literature on the single issues is analyzed in an attempt to clarify, as clearly as possible, whether each risk factor significantly contributes to the disease pathogenesis. After summarizing conflicting observations and data, the authors provide a final synthetic statement. PMID:27027889

  7. The 'Omics' of Amyotrophic Lateral Sclerosis.

    PubMed

    Caballero-Hernandez, Diana; Toscano, Miguel G; Cejudo-Guillen, Marta; Garcia-Martin, Maria L; Lopez, Soledad; Franco, Jaime M; Quintana, Francisco J; Roodveldt, Cintia; Pozo, David

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that primarily affects motor neurons and is accompanied by sustained unregulated immune responses, but without clear indications of the ultimate causative mechanisms. The identification of a diverse array of ALS phenotypes, a series of recently discovered mutations, and the links between ALS and frontotemporal degeneration have significantly increased our knowledge of the disease. In this review we discuss the main features involved in ALS pathophysiology in the context of recent advances in 'omics' approaches, including genomics, proteomics, and others. We emphasize the pressing need to combine clinical imaging with various different parameters taken from omics fields to facilitate early, accurate diagnosis and rational drug design in the treatment of ALS.

  8. Toward precision medicine in amyotrophic lateral sclerosis

    PubMed Central

    Liu, Chang-Yun; Che, Chun-Hui

    2016-01-01

    Precision medicine is an innovative approach that uses emerging biomedical technologies to deliver optimally targeted and timed interventions, customized to the molecular drivers of an individual’s disease. This approach is only just beginning to be considered for treating amyotrophic lateral sclerosis (ALS). The clinical and biological complexities of ALS have hindered development of effective therapeutic strategies. In this review we consider applying the key elements of precision medicine to ALS: phenotypic classification, comprehensive risk assessment, presymptomatic period detection, potential molecular pathways, disease model development, biomarker discovery and molecularly tailored interventions. Together, these would embody a precision medicine approach, which may provide strategies for optimal targeting and timing of efforts to prevent, stop or slow progression of ALS. PMID:26889480

  9. Magnetic resonance imaging in amyotrophic lateral sclerosis.

    PubMed

    Kollewe, Katja; Körner, Sonja; Dengler, Reinhard; Petri, Susanne; Mohammadi, Bahram

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disorder which is incurable to date. As there are many ongoing studies with therapeutic candidates, it is of major interest to develop biomarkers not only to facilitate early diagnosis but also as a monitoring tool to predict disease progression and to enable correct randomization of patients in clinical trials. Magnetic resonance imaging (MRI) has made substantial progress over the last three decades and is a practical, noninvasive method to gain insights into the pathology of the disease. Disease-specific MRI changes therefore represent potential biomarkers for ALS. In this paper we give an overview of structural and functional MRI alterations in ALS with the focus on task-free resting-state investigations to detect cortical network failures. PMID:22848820

  10. Proximal Tibial Bone Graft

    MedlinePlus

    ... Complications Potential problems after a PTBG include infection, fracture of the proximal tibia and pain related to the procedure. Frequently Asked Questions If proximal tibial bone graft is taken from my knee, will this prevent me from being able to ...

  11. Electroacupuncture attenuates neuropathic pain after brachial plexus injury.

    PubMed

    Zhang, Shenyu; Tang, Hailiang; Zhou, Junming; Gu, Yudong

    2014-07-15

    Electroacupuncture has traditionally been used to treat pain, but its effect on pain following brachial plexus injury is still unknown. In this study, rat models of an avulsion injury to the left brachial plexus root (associated with upper-limb chronic neuropathic pain) were given electroacupuncture stimulation at bilateral Quchi (LI11), Hegu (LI04), Zusanli (ST36) and Yanglingquan (GB34). After electroacupuncture therapy, chronic neuropathic pain in the rats' upper limbs was significantly attenuated. Immunofluorescence staining showed that the expression of β-endorphins in the arcuate nucleus was significantly increased after therapy. Thus, experimental findings indicate that electroacupuncture can attenuate neuropathic pain after brachial plexus injury through upregulating β-endorphin expression. PMID:25221593

  12. Brachial Artery Access for Percutaneous Renal Artery Interventions

    SciTech Connect

    Kaukanen, Erkki T.; Manninen, Hannu I.; Matsi, Pekka J.; Soeder, Heini K.

    1997-09-15

    Purpose: To evaluate the suitability of transbrachial access for endovascular renal artery interventions. Methods: During 37 consecutive endovascular renal artery interventions, the transbrachial approach was used on nine patients (mean age 63 years; range 41-76 years) for 11 renal artery procedures on native kidneys and one percutaneous transluminal angioplasty (PTA) on a transplanted kidney. The reason for using transbrachial access was a steep aorta-renal angle in five, and severe aorta-iliac atherosclerosis in the remaining patients. In addition to the intervention catheter in the left brachial artery, an additional nonselective catheter for controlling the procedure was inserted transfemorally (six patients) or via the contralateral brachial artery. Results: Eleven interventions (six PTAs, five stents) were successfully completed. The one failure resulted from impenetrable subclavian artery stenosis. The only major complication was a brachial artery pseudoaneurysm requiring surgical treatment. Conclusion: Transbrachial access is an effective and relatively safe technique for renal artery interventions when transfemoral access is not possible.

  13. Permanent upper trunk plexopathy after interscalene brachial plexus block.

    PubMed

    Avellanet, Merce; Sala-Blanch, Xavier; Rodrigo, Lidia; Gonzalez-Viejo, Miguel A

    2016-02-01

    Interscalene brachial plexus block (IBPB) has been widely used in shoulder surgical procedures. The incidence of postoperative neural injury has been estimated to be as high as 3 %. We report a long-term neurologic deficit after a nerve stimulator assisted brachial plexus block. A 55 year-old male, with right shoulder impingement syndrome was scheduled for elective surgery. The patient was given an oral dose of 10 mg of diazepam prior to the nerve stimulator assisted brachial plexus block. The patient immediately complained, as soon as the needle was placed in the interscalene area, of a sharp pain in his right arm and he was sedated further. Twenty-four hours later, the patient complained of severe shoulder and arm pain that required an increased dose of analgesics. Severe peri-scapular atrophy developed over the following days. Electromyography studies revealed an upper trunk plexus injury with severe denervation of the supraspinatus, infraspinatus and deltoid muscles together with a moderate denervation of the biceps brachii muscle. Chest X-rays showed a diaphragmatic palsy which was not present post operatively. Pulmonary function tests were also affected. Phrenic nerve paralysis was still present 18 months after the block as was dysfunction of the brachial plexus resulting in an inability to perform flexion, abduction and external rotation of the right shoulder. Severe brachial plexopathy was probably due to a local anesthetic having been administrated through the perineurium and into the nerve fascicles. Severe brachial plexopathy is an uncommon but catastrophic complication of IBPB. We propose a clinical algorithm using ultrasound guidance during nerve blocks as a safer technique of regional anesthesia. PMID:25744163

  14. Acute presentation of brachial plexus schwannoma secondary to infarction.

    PubMed

    Sidani, Charif; Saraf-Lavi, Efrat; Lyapichev, Kirill A; Nadji, Mehrdad; Levi, Allan D

    2015-06-01

    Schwannomas of the brachial plexus are rare and typically present as slowly growing masses. We describe a case of a 37-year-old female who presented with acute onset of severe left upper extremity pain. Magnetic resonance imaging (MRI) showed a 2.3 × 2.1 cm peripherally enhancing centrally cystic lesion in the left axilla, along the cords of the left brachial plexus, with significant surrounding edema and enhancement. The mass was surgically removed. Pathology was consistent with a schwannoma with infarction. The pain completely resolved immediately after surgery.

  15. Pediatric Stinger Syndrome: Acute Brachial Plexopathy After Minor Trauma

    PubMed Central

    Quong, Whitney L.; Hynes, Sally L.

    2015-01-01

    Summary: The “stinger” or “burner” is a form of transient brachial plexopathy termed for its characteristic knife-like pain extending from the neck to the fingertips. Muscle weakness and paresthesia are oftentimes associated symptoms and are similarly temporary. Commonly observed in athletes of contact sports, the stinger results from high force trauma causing either traction/direct compression to the brachial plexus or extension/compression of the cervical nerve roots. We describe a pediatric case of a stinger in a 14-year-old boy, which was caused by a relatively low force trauma accident. Our management strategy and recommendations are discussed. PMID:26893985

  16. 38 CFR 3.318 - Presumptive service connection for amyotrophic lateral sclerosis.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... connection for amyotrophic lateral sclerosis. 3.318 Section 3.318 Pensions, Bonuses, and Veterans' Relief... sclerosis. (a) Except as provided in paragraph (b) of this section, the development of amyotrophic lateral... under this section: (1) If there is affirmative evidence that amyotrophic lateral sclerosis was...

  17. 38 CFR 3.318 - Presumptive service connection for amyotrophic lateral sclerosis.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... connection for amyotrophic lateral sclerosis. 3.318 Section 3.318 Pensions, Bonuses, and Veterans' Relief... sclerosis. (a) Except as provided in paragraph (b) of this section, the development of amyotrophic lateral... under this section: (1) If there is affirmative evidence that amyotrophic lateral sclerosis was...

  18. 38 CFR 3.318 - Presumptive service connection for amyotrophic lateral sclerosis.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... connection for amyotrophic lateral sclerosis. 3.318 Section 3.318 Pensions, Bonuses, and Veterans' Relief... sclerosis. (a) Except as provided in paragraph (b) of this section, the development of amyotrophic lateral... under this section: (1) If there is affirmative evidence that amyotrophic lateral sclerosis was...

  19. 38 CFR 3.318 - Presumptive service connection for amyotrophic lateral sclerosis.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... connection for amyotrophic lateral sclerosis. 3.318 Section 3.318 Pensions, Bonuses, and Veterans' Relief... sclerosis. (a) Except as provided in paragraph (b) of this section, the development of amyotrophic lateral... under this section: (1) If there is affirmative evidence that amyotrophic lateral sclerosis was...

  20. 38 CFR 3.318 - Presumptive service connection for amyotrophic lateral sclerosis.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... connection for amyotrophic lateral sclerosis. 3.318 Section 3.318 Pensions, Bonuses, and Veterans' Relief... sclerosis. (a) Except as provided in paragraph (b) of this section, the development of amyotrophic lateral... under this section: (1) If there is affirmative evidence that amyotrophic lateral sclerosis was...

  1. Lockhart Clarke's contribution to the description of amyotrophic lateral sclerosis.

    PubMed

    Turner, Martin R; Swash, Michael; Ebers, George C

    2010-11-01

    The definition of the clinicopathological entity of amyotrophic lateral sclerosis evolved over half a century. Although the definitive term amyotrophic lateral sclerosis that acknowledged both upper and lower motor neuron involvement was attributed to Jean-Martin Charcot in 1874, his initial case was published nearly a decade earlier; and it is accepted that, from at least the 1830s, several others (including Charles Bell, François-Amilcar Aran and Jean Cruveilhier) had already recognized a progressive lower motor neuron-only syndrome within a broader, clinically-defined group of disorders, termed progressive muscular atrophy. Although William Gowers first grouped the three phenotypes of amyotrophic lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy together as part of the same syndrome, the term motor neuron disease, as an over-arching label, was not suggested until nearly a century later by W. Russell Brain. Augustus Jacob Lockhart Clarke (1817-80) is best known for his descriptions of spinal cord anatomy. However, in two detailed case reports from the 1860s, he carried out rigorous post-mortem neuropathological studies of what appear to be classical cases of amyotrophic lateral sclerosis. Furthermore, he recognized the additional involvement of the corticospinal tracts that distinguished this from progressive muscular atrophy. Several aspects of the exquisite clinical histories documented as part of both studies, one by Charles Bland Radcliffe, resonate with contemporary debates concerning the evolution of disease in amyotrophic lateral sclerosis. These 'past masters' still have much to teach us.

  2. Impaired Cognitive Flexibility in Amyotrophic Lateral Sclerosis

    PubMed Central

    Evans, Jessica; Olm, Christopher; McCluskey, Leo; Elman, Lauren; Boller, Ashley; Moran, Eileen; Rascovsky, Katya; Bisbing, Teagan; McMillan, Corey T.; Grossman, Murray

    2014-01-01

    Objective Up to half of patients with amyotrophic lateral sclerosis (ALS) may have cognitive difficulty, but most cognitive measures are confounded by a motor component. Rare studies have related impaired cognition in ALS to disease in gray matter (GM) and white matter (WM). We evaluated a simple, untimed measure of executive functioning with minimal motor demands in ALS, and relate performance to structural disease. Methods Fifty-six patients with ALS and 29 matched healthy controls were assessed with the Visual-Verbal Test (VVT). This brief measure of cognitive flexibility first assesses an individual's ability to identify a shared feature in three of four simple geometric designs. Cognitive flexibility is challenged when individuals are next asked to identify a different shared feature in another three of the same four geometric designs. Regression analyses related performance to GM atrophy and reduced WM fractional anisotropy (FA) in a subset of patients. Results ALS patients were significantly impaired on this simple measure of cognitive flexibility (p<0.01). An error in cognitive flexibility was present in 48.2% of individual ALS patients. Regression analyses related impaired cognitive flexibility to GM atrophy in inferior frontal and insula regions, and to reduced FA in WM projections in inferior frontal-occipital and uncinate fasciculi and corpus callosum. Conclusion Patients with ALS have impaired cognitive flexibility on an untimed measure with minimal motor demands, and this is related in part to a large-scale frontal network that is degraded in ALS. PMID:25812127

  3. Characteristics of pain in amyotrophic lateral sclerosis

    PubMed Central

    Hanisch, Frank; Skudlarek, Anika; Berndt, Janine; Kornhuber, Malte E

    2015-01-01

    Background Pain is an often underestimated and neglected symptom in amyotrophic lateral sclerosis (ALS). Methods In a cross-sectional survey, 46 patients with ALS, 46 age- and gender matched population-based controls, and 23 diseased controls with myotonic dystrophy type 2 (DM2) were screened for occurrence, type, distribution, and treatment of pain and cramps. Data were collected with the use of the short form brief pain inventory (BPI). Results Pain was reported in 78% of ALS patients,79% of DM2 patients, and 54% of controls (P < 0.05). More ALS patients than controls reported moderate to severe pain (42% vs. 20%). Pain in ALS patients interfered significantly more with daily activities than in controls (median pain interference score: 3.0 vs. 1.2, P < 0.05), especially enjoyment of life (5.0 vs. 1.0) and mood (3.0 vs. 1.0). There was no correlation between the duration of the disease and the severity of pain. Movement-induced cramps were reported in 63% of ALS patients, mostly in the distal extremities. There was no difference in the duration of ALS disease between patients reporting cramps and those who did not. Discussion Our study showed that pain was a relatively frequent symptom which had an important impact on the quality of life. Pain that requires treatment can occur at every stage of ALS. PMID:25642388

  4. Narrative discourse deficits in amyotrophic lateral sclerosis

    PubMed Central

    Menaged, Anna; Olm, Christopher; McMillan, Corey T.; Boller, Ashley; Irwin, David J.; McCluskey, Leo; Elman, Lauren; Grossman, Murray

    2014-01-01

    Objective: We examined narrative discourse in amyotrophic lateral sclerosis (ALS) to assess the role of executive functioning in support of language and the neuroanatomical basis for such support. Methods: We analyzed a semistructured speech sample in 26 patients with ALS and 19 healthy seniors for narrative discourse features of coherence. Regression analyses related a measure of discourse coherence (“local connectedness”) to gray matter atrophy and reduced white matter fractional anisotropy. Results: Patients with ALS were impaired relative to controls on measures of discourse adequacy, including local connectedness and maintenance of the theme. These discourse measures were related to measures of executive functioning but not to motor functioning. Regressions related local connectedness to gray matter atrophy in ventral and dorsal prefrontal regions and to reduced fractional anisotropy in white matter tracts mediating projections between prefrontal regions. Conclusion: Patients with ALS exhibit deficits in their ability to organize narrative discourse. These deficits appear to be related in part to executive limitations. Consistent with the hypothesis that ALS is a multisystem disorder, this deficit is related to disease in prefrontal regions. PMID:24991038

  5. [Restorative therapy in amyotrophic lateral sclerosis].

    PubMed

    Aoki, Masashi

    2012-11-01

    Amyotrophic lateral sclerosis (ALS) is an adult onset neurodegenerative disorder characterized by the death of upper and lower motor neurons. About 10% of all ALS cases are familial; approximately 20% of familial ALS cases are caused by mutations in the superoxide dismutase 1 (SOD1) gene. We developed rats that express a human SOD1 transgene with ALS-associated mutations, developing striking motor neuron degeneration and paralysis. The larger size of this rat model as compared with the ALS mice, will facilitate studies involving manipulations of spinal fluid and the spinal cord. Hepatocyte growth factor (HGF) is one of the most potent survival-promoting factors for motor neurons. We administered human recombinant HGF (hrHGF) by continuous intrathecal delivery to the transgenic rats at the onset of paralysis for 4 weeks. Intrathecal administration of hrHGF attenuated motor neuron degeneration and prolonged the duration of the disease by 63%. To translate this strategy to human treatment, we induced a contusive cervical spinal cord injury in the common marmoset, a primate, and then administered hrHGF intrathecally. The intrathecal administration of hrHGF promoted functional recovery. These results prompted further clinical trials in ALS using continuous intrathecal administration of hrHGF. PMID:23373317

  6. Radiotherapy reduces sialorrhea in amyotrophic lateral sclerosis.

    PubMed

    Neppelberg, E; Haugen, D F; Thorsen, L; Tysnes, O-B

    2007-12-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. Sialorrhea is a frequent problem in ALS patients with bulbar symptoms, because of progressive weakness of oral, lingual and pharyngeal muscles. This prospective study aimed to investigate the putative effect of palliative single-dose radiotherapy on problematic sialorrhea in patients with ALS. Twenty patients with ALS and problematic drooling were included; 14 were given radiotherapy with a single fraction of 7.5 Grey (Gy). Five patients were treated with botulinum toxin A (BTX-A) injections (20 U) into the parotid glands; two of these were later given radiotherapy. Symptom assessment, clinical examination and measurements of salivary flow (ml/min) were performed before and after treatment (1-2 weeks, 3 months). Salivary secretion was significantly reduced after radiation treatment, with a mean reduction of 60% (1 week) and 51% (2 weeks). Three months post-treatment, 21% reduction of the salivary secretion was observed compared with salivation before treatment. Mean salivary flow was not reduced after BTX-A treatment in five patients. No serious side-effects were observed with either of the two treatment modalities. Single-dose radiotherapy (7.5 Gy) significantly reduces sialorrhea and is an effective and safe palliative treatment in patients with ALS.

  7. Emotional Perception Deficits in Amyotrophic Lateral Sclerosis

    PubMed Central

    Zimmerman BA, Erin K.; Eslinger PhD, Paul J.; MD, Zachary Simmons; Barrett MD, Anna M.

    2007-01-01

    Objective Cognitive deficits associated with frontal lobe dysfunction can occur in amyotrophic lateral sclerosis (ALS), particularly in individuals with bulbar ALS who can also suffer pathological emotional lability. Since frontal pathophysiology can alter emotional perception, we examined whether emotional perception deficits occur in ALS, and whether they are related to depressive or dementia symptoms. Methods Bulbar ALS participants (n = 13) and age-matched healthy normal controls (n = 12) completed standardized tests of facial and prosodic emotional recognition, the Geriatric Depression Scale, and the Mini-Mental State Examination. Participants identified the basic emotion (happy, sad, angry, afraid, surprised, disgusted) that matched 39 facial expressions and 28 taped, semantically neutral, intoned sentences. Results ALS patients performed significantly worse than controls on facial emotional recognition but not on prosodic emotional recognition. Eight of 13 patients (62%) scored below the 95% Confidence Interval of controls in recognizing facial emotions, and 3 of these patients (23% overall) also scored lower in prosody recognition. Among the 8 patients with emotional perceptual impairment, one-half did not have depressive, or memory or cognitive symptoms on screening, while the remainder showed dementia symptoms alone or together with depressive symptoms. Conclusions Emotional recognition deficits occur in bulbar ALS, particularly with emotional facial expressions, and can arise independent of depressive and dementia symptoms or co-morbid with depression and dementia. These findings expands the scope of cognitive dysfunction detected in ALS, and bolsters the view of ALS as a multisystem disorder involving cognitive as well as motor deficits. PMID:17558250

  8. Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis

    PubMed Central

    Shi, Ping; Gal, Jozsef; Kwinter, David M.; Liu, Xiaoyan; Zhu, Haining

    2009-01-01

    The etiology of motor neuron degeneration in amyotrophic lateral sclerosis (ALS) remains to be better understood. Based on the studies from ALS patients and transgenic animal models, it is believed that ALS is likely to be a multifactorial and multisystem disease. Many mechanisms have been postulated to be involved in the pathology of ALS, such as oxidative stress, glutamate excitotoxicity, mitochondrial damage, defective axonal transport, glia cell pathology and aberrant RNA metabolism. Mitochondria, which play crucial roles in excitotoxicity, apoptosis and cell survival, have shown to be an early target in ALS pathogenesis and contribute to the disease progression. Morphological and functional defects in mitochondria were found in both human patients and ALS mice overexpressing mutant SOD1. Mutant SOD1 was found to be preferentially associated with mitochondria and subsequently impair mitochondrial function. Recent studies suggest that axonal transport of mitochondria along microtubules and mitochondrial dynamics may also be disrupted in ALS. These results also illustrate the critical importance of maintaining proper mitochondrial function in axons and neuromuscular junctions, supporting the emerging “dying-back” axonopathy model of ALS. In this review, we will discuss how mitochondrial dysfunction has been linked to the ALS variants of SOD1 and the mechanisms by which mitochondrial damage contributes to the disease etiology. PMID:19715760

  9. Amyotrophic Lateral Sclerosis: New Perpectives and Update

    PubMed Central

    Orsini, Marco; Oliveira, Acary Bulle; Nascimento, Osvaldo J.M.; Reis, Carlos Henrique Melo; Leite, Marco Antonio Araujo; de Souza, Jano Alves; Pupe, Camila; de Souza, Olivia Gameiro; Bastos, Victor Hugo; de Freitas, Marcos R.G.; Teixeira, Silmar; Bruno, Carlos; Davidovich, Eduardo; Smidt, Benny

    2015-01-01

    Amyotrophic lateral sclerosis (ALS), Charcot’s disease or Lou Gehrig’s disease, is a term used to cover the spetrum of syndromes caracterized by progressive degeneration of motor neurons, a paralytic disorder caused by motor neuron degeneration. Currently, there are approximately 25,000 patients with ALS in the USA, with an average age of onset of 55 years. The incidence and prevalence of ALS are 1-2 and 4-6 per 100,000 each year, respectively, with a lifetime ALS risk of 1/600 to 1/1000. It causes progressive and cumulative physical disabilities, and leads to eventual death due to respiratory muscle failure. ALS is diverse in its presentation, course, and progression. We do not yet fully understand the causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. In this chapter, we will discuss the diagnosis, treatment, and how to cope with impaired function and end of life based on of our experience, guidelines, and clinical trials. Nowadays ALS seems to be a more complex disease than it did two decades – or even one decade – ago, but new insights have been plentiful. Clinical trials should be seen more as experiments on pathogenic mechanisms. A medication or combination of medications that targets more than one pathogenic pathway may slow disease progression in an additive or synergistic fashion. PMID:26487927

  10. Epidemiologic correlates of sporadic amyotrophic lateral sclerosis

    SciTech Connect

    Armon, C.; Kurland, L.T.; Daube, J.R.; O'Brien, P.C. )

    1991-07-01

    The authors evaluated 74 selected patients with amyotrophic lateral sclerosis (ALS) and 201 matched controls for risk factors for ALS by a case-control design and a sequential questionnaire/interview technique to quantitate biographic data. They analyzed occupational and recreational data only for 47 male patients and 47 corresponding patient controls; data for women were insufficient. They used nonparametric analyses to evaluate five primary comparisons of ALS patients with controls: (1) more hard physical labor, p not significant (NS); (2) greater frequency of neurodegenerative disease in family members, p NS; (3) greater exposure to lead, p less than 0.05; (4) more years lived in a rural community, p NS; and (5) more trauma or major surgery, p NS. Men with ALS had worked more frequently at blue-collar jobs (although not a statistically significant difference, p = 0.10) and at welding or soldering (p less than 0.01). These results suggest that there may be an association between ALS in men and exposure to lead vapor. The limited nature of the association favors a multifactorial etiologic mechanism of ALS.

  11. The epidemiology of amyotrophic lateral sclerosis.

    PubMed

    Talbott, E O; Malek, A M; Lacomis, D

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults and is characterized by neurodegeneration of motor neurons in the brain and spinal cord. The incidence of ALS is approximately 1-2.6 cases per 100 000 persons annually, whereas the prevalence is approximately 6 cases per 100 000. The average age of onset of ALS is currently 58-60 years and the average survival from onset to death is 3-4 years. Between October 19, 2010 and December 31, 2011, there were an estimated 12 187 prevalent cases diagnosed with definite ALS in the USA alone. Sporadic ALS (90-95%) constitutes the large majority of cases, while the remaining 5-10% are hereditary and termed familial ALS. Sporadic ALS is suspected to involve genetic susceptibility to environmental risk factors. The purpose of this review is to present a clinical overview of ALS and provide an epidemiologic summary of personal and environmental risk factors shown to be related to the risk of disease. A discussion of the most recent research initiatives is also included. PMID:27637961

  12. Controversies and priorities in amyotrophic lateral sclerosis

    PubMed Central

    Turner, Martin R; Hardiman, Orla; Benatar, Michael; Brooks, Benjamin R; Chio, Adriano; de Carvalho, Mamede; Ince, Paul G; Lin, Cindy; Miller, Robert G; Mitsumoto, Hiroshi; Nicholson, Garth; Ravits, John; Shaw, Pamela J; Swash, Michael; Talbot, Kevin; Traynor, Bryan J; den Berg, Leonard H Van; Veldink, Jan H; Vucic, Steve; Kiernan, Matthew C

    2015-01-01

    Summary Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remainder of cases of familial ALS have now been traced to an expansion of the intronic hexanucleotide repeat sequence in C9orf72. This breakthrough provides an opportunity to re-evaluate longstanding concepts regarding the cause and natural history of ALS, coming soon after the pathological unification of ALS with frontotemporal dementia through a shared pathological signature of cytoplasmic inclusions of the ubiquitinated protein TDP-43. However, with profound clinical, prognostic, neuropathological, and now genetic heterogeneity, the concept of ALS as one disease appears increasingly untenable. This background calls for the development of a more sophisticated taxonomy, and an appreciation of ALS as the breakdown of a wider network rather than a discrete vulnerable population of specialised motor neurons. Identification of C9orf72 repeat expansions in patients without a family history of ALS challenges the traditional division between familial and sporadic disease. By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several genes linked to familial cases suggest that at least some forms of ALS arise from the interplay of multiple genes, poorly understood developmental, environmental, and age-related factors, as well as stochastic events. PMID:23415570

  13. Decisional Capacity in Amyotrophic Lateral Sclerosis.

    PubMed

    Khin Khin, Eindra; Minor, Darlinda; Holloway, Amanda; Pelleg, Ayla

    2015-06-01

    The cognitive and behavioral changes that can be observed in the neurodegenerative terminal disease amyotrophic lateral sclerosis (ALS), once characterized as purely a motor neuron disease, have become increasingly recognized over the past century. Detecting cognitive deficits earlier and identifying continued changes at regular intervals can lead to improved care, proactive treatments, and earlier discussions about end-of-life wishes. Although medical decisional capacity is required for every treatment decision made, its importance becomes paramount when making decisions on complex medical treatments that will invariably and significantly affect quality of life or life itself. In this review, we conducted a critical analysis of the evidence-based literature on the cognitive and behavioral impairments in ALS that can compromise medical decisional capacity. We review specific ALS-related clinical scenarios in which decisional capacity is of utmost importance and discuss a practical framework for cognitive and behavioral assessment that can be routinely and efficiently used, while being mindful of the confounding factors associated with ALS. Finally, we review models for preserving patient choices that can be used in patients with ALS to help safeguard autonomy and retain dignity toward the end of life. PMID:26071511

  14. Altered Cortical Communication in Amyotrophic Lateral Sclerosis

    PubMed Central

    Blain-Moraes, Stefanie; Mashour, George A.; Lee, Heonsoo; Huggins, Jane E.; Lee, UnCheol

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a disorder associated primarily with the degeneration of the motor system. More recently, functional connectivity studies have demonstrated potentially adaptive changes in ALS brain organization, but disease-related changes in cortical communication remain unknown. We recruited individuals with ALS and age-matched controls to operate a brain-computer interface while electroencephalography was recorded over three sessions. Using normalized symbolic transfer entropy, we measured directed functional connectivity from frontal to parietal (feedback connectivity) and parietal to frontal (feedforward connectivity) regions. Feedback connectivity was not significantly different between groups, but feedforward connectivity was significantly higher in individuals with ALS. This result was consistent across a broad electroencephalographic spectrum (4 – 35 Hz), and in theta, alpha and beta frequency bands. Feedback connectivity has been associated with conscious state and was found to be independent of ALS symptom severity in this study, which may have significant implications for the detection of consciousness in individuals with advanced ALS. We suggest that increases in feedforward connectivity represent a compensatory response to the ALS-related loss of input such that sensory stimuli have sufficient strength to cross the threshold necessary for conscious processing in the global neuronal workspace. PMID:23567743

  15. Rodent Models of Amyotrophic Lateral Sclerosis.

    PubMed

    Philips, Thomas; Rothstein, Jeffrey D

    2015-06-01

    Amyotrophic Lateral Sclerosis (ALS) is a motor neuron disease affecting upper and lower motor neurons in the central nervous system. Patients with ALS develop extensive muscle wasting and atrophy leading to paralysis and death 3 to 5 years after disease onset. The condition may be familial (fALS 10%) or sporadic ALS (sALS, 90%). The large majority of fALS cases are due to genetic mutations in the Superoxide dismutase 1 gene (SOD1, 15% of fALS) and repeat nucleotide expansions in the gene encoding C9ORF72 (∼ 40% to 50% of fALS and ∼ 10% of sALS). Studies suggest that ALS is mediated through aberrant protein homeostasis (i.e., ER stress and autophagy) and/or changes in RNA processing (as in all non-SOD1-mediated ALS). In all of these cases, animal models suggest that the disorder is mediated non-cell autonomously, i.e., not only motor neurons are involved, but glial cells including microglia, astrocytes, and oligodendrocytes, and other neuronal subpopulations are also implicated in the pathogenesis. Provided in this unit is a review of ALS rodent models, including discussion of their relative advantages and disadvantages. Emphasis is placed on correlating the model phenotype with the human condition and the utility of the model for defining the disease process. Information is also presented on RNA processing studies in ALS research, with particular emphasis on the newest ALS rodent models.

  16. Axillary Brachial Plexus Blockade for the Reflex Sympathetic Dystrophy Syndrome.

    ERIC Educational Resources Information Center

    Ribbers, G. M.; Geurts, A. C. H.; Rijken, R. A. J.; Kerkkamp, H. E. M.

    1997-01-01

    Reflex sympathetic dystrophy syndrome (RSD) is a neurogenic pain syndrome characterized by pain, vasomotor and dystrophic changes, and often motor impairments. This study evaluated the effectiveness of brachial plexus blockade with local anaesthetic drugs as a treatment for this condition. Three patients responded well; three did not. (DB)

  17. Amyotrophic lateral sclerosis: early contributions of Jean-Martin Charcot.

    PubMed

    Goetz, C G

    2000-03-01

    Amyotrophic lateral sclerosis is historically an important entity because its manifestations involve distinct signs that can be correlated with gray and white matter lesions at specific sites within the central nervous system. Working at the end of the nineteenth century, the celebrated neurologist, Jean-Martin Charcot, used this disorder as a prototypic example of the power of his research method, termed "méthode anatomoclinique." Using clinical cases and autopsy material, he showed how anatomical lesions in the nervous system could be accurately determined by the presence of carefully analyzed clinical signs. Charcot's work on amyotrophic lateral sclerosis brought together neurological entities formerly considered as disparate disorders, primary amyotrophy and primary lateral sclerosis. In addition, these studies contributed to the understanding of spinal cord and brain stem anatomy and the organization of the normal nervous system. Because of Charcot's fundamental contributions, the eponym "Charcot's disease" has been used internationally in association with amyotrophic lateral sclerosis.

  18. Mitochondrial dysfunction in blood cells from amyotrophic lateral sclerosis patients.

    PubMed

    Ehinger, Johannes K; Morota, Saori; Hansson, Magnus J; Paul, Gesine; Elmér, Eskil

    2015-06-01

    Mitochondrial dysfunction is implicated in amyotrophic lateral sclerosis, where the progressive degeneration of motor neurons results in muscle atrophy, paralysis and death. Abnormalities in both central nervous system and muscle mitochondria have previously been demonstrated in patient samples, indicating systemic disease. In this case-control study, venous blood samples were acquired from 24 amyotrophic lateral sclerosis patients and 21 age-matched controls. Platelets and peripheral blood mononuclear cells were isolated and mitochondrial oxygen consumption measured in intact and permeabilized cells with additions of mitochondrial substrates, inhibitors and titration of an uncoupler. Respiratory values were normalized to cell count and for two markers of cellular mitochondrial content, citrate synthase activity and mitochondrial DNA, respectively. Mitochondrial function was correlated with clinical staging of disease severity. Complex IV (cytochrome c-oxidase)-activity normalized to mitochondrial content was decreased in platelets from amyotrophic lateral sclerosis patients both when normalized to citrate synthase activity and mitochondrial DNA copy number. In mononuclear cells, complex IV-activity was decreased when normalized to citrate synthase activity. Mitochondrial content was increased in amyotrophic lateral sclerosis patient platelets. In mononuclear cells, complex I activity declined and mitochondrial content increased progressively with advancing disease stage. The findings are, however, based on small subsets of patients and need to be confirmed. We conclude that when normalized to mitochondria-specific content, complex IV-activity is reduced in blood cells from amyotrophic lateral sclerosis patients and that there is an apparent compensatory increase in cellular mitochondrial content. This supports systemic involvement in amyotrophic lateral sclerosis and suggests further study of mitochondrial function in blood cells as a future biomarker for the

  19. Inhibitory dysfunction in amyotrophic lateral sclerosis: future therapeutic opportunities.

    PubMed

    Clark, Rosemary; Blizzard, Catherine; Dickson, Tracey

    2015-12-01

    In amyotrophic lateral sclerosis, motor neuron hyperexcitability and inhibitory dysfunction is emerging as a potential causative link in the dysfunction and degeneration of the motoneuronal circuitry that characterizes the disease. Interneurons, as key regulators of excitability, may mediate much of this imbalance, yet we know little about the way in which inhibitory deficits perturb excitability. In this review, we explore inhibitory control of excitability and the potential contribution of altered inhibition to amyotrophic lateral sclerosis disease processes and vulnerabilities, identifying important windows of therapeutic opportunity and potential interventions, specifically targeting inhibitory control at key disease stages.

  20. [Announcement of amyotrophic lateral sclerosis diagnosis].

    PubMed

    Couratier, P; Desport, J C; Torny, F; Lacoste, M

    2006-06-01

    Breaking the news of amyotrophic lateral sclerosis (ALS) is considered as a daunting task in most cases and is not a standardizable procedure. However, proven techniques exist to reduce the trauma to the patient. Announcing ALS falls upen the neurologist who must respect the ethical principle of the patient's independence. After the diagnosis is firmly established, the patient should be informed that he or she has a progressive disease of the motor nerves, for which no curative therapy is available. The name of the disease must be stated and explained. If the family history is negative, it is reassuring for the patient and family to know that their children are unlikely to be at risk. Positive aspects (no pain, no disturbances in sensation, cognition, memory and continence) should be stressed as well as the availability of efficient palliative measures for practically all symptoms. Current research efforts, and when available, the possibility of taking part in clinical studies of new drugs should be pointed out as a means of hope. The answer to the question of prognosis should include the information that there are no sudden worsenings to be expected, that the course of ALS may vary between months and decades, that making a firm statement on prognosis all but impossible for any single patient and that respiratory function may worsen during the disease course. It is therefore mandatory to inform patients and families about the existence of ALS patients'associations. The way the patient is told the diagnosis is of great importance and is considered as a multiple-step procedure. Discussion should take place in a private and quiet room and respect some fundamental objectives such as finding out what the patient already knows or suspects and how much more the patient wants to know, observing and responding to the patient's reactions, reinforcing the information and planning the future. It is proven that communicating the diagnosis of ALS in an empathetic fashion is an

  1. Homozygosity analysis in amyotrophic lateral sclerosis

    PubMed Central

    Mok, Kin; Laaksovirta, Hannu; Tienari, Pentti J; Peuralinna, Terhi; Myllykangas, Liisa; Chiò, Adriano; Traynor, Bryan J; Nalls, Michael A; Gurunlian, Nicole; Shatunov, Aleksey; Restagno, Gabriella; Mora, Gabriele; Nigel Leigh, P; Shaw, Chris E; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Hardy, John; Orrell, Richard W

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) may appear to be familial or sporadic, with recognised dominant and recessive inheritance in a proportion of cases. Sporadic ALS may be caused by rare homozygous recessive mutations. We studied patients and controls from the UK and a multinational pooled analysis of GWAS data on homozygosity in ALS to determine any potential recessive variant leading to the disease. Six-hundred and twenty ALS and 5169 controls were studied in the UK cohort. A total of 7646 homozygosity segments with length >2 Mb were identified, and 3568 rare segments remained after filtering ‘common' segments. The mean total of the autosomal genome with homozygosity segments was longer in ALS than in controls (unfiltered segments, P=0.05). Two-thousand and seventeen ALS and 6918 controls were studied in the pooled analysis. There were more regions of homozygosity segments per case (P=1 × 10−5), a greater proportion of cases harboured homozygosity (P=2 × 10−5), a longer average length of segment (P=1 × 10−5), a longer total genome coverage (P=1 × 10−5), and a higher rate of these segments overlapped with RefSeq gene regions (P=1 × 10−5), in ALS patients than controls. Positive associations were found in three regions. The most significant was in the chromosome 21 SOD1 region, and also chromosome 1 2.9–4.8 Mb, and chromosome 5 in the 65 Mb region. There are more than twenty potential genes in these regions. These findings point to further possible rare recessive genetic causes of ALS, which are not identified as common variants in GWAS. PMID:23612577

  2. Unusual Origin of a Double Upper Subscapular Nerve from the Suprascapular Nerve and the Posterior Division of the Upper Trunk of the Brachial Plexus: A Case Report.

    PubMed

    Paraskevas, George; Koutsouflianiotis, Konstantinos; Iliou, Kalliopi; Bitsis, Theodosios; Kitsoulis, Panagiotis

    2016-06-01

    A double upper subscapular nerve on the right side was detected in a male cadaver, with the proximal one arising from the suprascapular nerve and the distal one from the posterior division of the upper trunk of the brachial plexus. Both of them penetrated and supplied the uppermost portion of the right subscapularis muscle. That anatomic variation was associated with a median nerve formed by two lateral roots. The origin and pattern of the upper subscapular nerve displays high variability, however the presented combination of the variable origin of a double upper subscapular nerve has rarely been described in the literature. The knowledge of such an anatomic variation is essential for the surgeon operating in the region especially in instances of brachial plexus' repair after any traumatic injury. Moreover, the awareness of the precise origin and topography of these nerves is important for the physician attempting to block these nerves or utilizing these nerves as grafts for neurotization of adjacent damaged nerves of the brachial plexus. PMID:27504272

  3. Unusual Origin of a Double Upper Subscapular Nerve from the Suprascapular Nerve and the Posterior Division of the Upper Trunk of the Brachial Plexus: A Case Report

    PubMed Central

    Koutsouflianiotis, Konstantinos; Iliou, Kalliopi; Bitsis, Theodosios; Kitsoulis, Panagiotis

    2016-01-01

    A double upper subscapular nerve on the right side was detected in a male cadaver, with the proximal one arising from the suprascapular nerve and the distal one from the posterior division of the upper trunk of the brachial plexus. Both of them penetrated and supplied the uppermost portion of the right subscapularis muscle. That anatomic variation was associated with a median nerve formed by two lateral roots. The origin and pattern of the upper subscapular nerve displays high variability, however the presented combination of the variable origin of a double upper subscapular nerve has rarely been described in the literature. The knowledge of such an anatomic variation is essential for the surgeon operating in the region especially in instances of brachial plexus’ repair after any traumatic injury. Moreover, the awareness of the precise origin and topography of these nerves is important for the physician attempting to block these nerves or utilizing these nerves as grafts for neurotization of adjacent damaged nerves of the brachial plexus. PMID:27504272

  4. Proximal humerus fractures.

    PubMed

    Price, Matthew C; Horn, Pamela L; Latshaw, James C

    2013-01-01

    Proximal humerus fractures are among the most common fractures associated with osteoporosis. With an aging population, incidence of these fractures will only increase. The proximal humerus not only forms the lateral portion of the shoulder articulation but also has significant associations with musculoskeletal and neurovascular structures. As a result, fractures of the proximal humerus can significantly impact not only the function of the shoulder joint, but the health and function of the entire upper extremity as well. Understanding of these fractures, the management options, and associated nursing care, can help reduce morbidity rate and improve functional outcomes.

  5. Spatiotemporal Coupling of the Tongue in Amyotrophic Lateral Sclerosis

    ERIC Educational Resources Information Center

    Kuruvilla, Mili S.; Green, Jordan R.; Yunusova, Yana; Hanford, Kathy

    2012-01-01

    Purpose: The primary aim of the investigation was to identify deficits in spatiotemporal coupling between tongue regions in amyotrophic lateral sclerosis (ALS). The relations between disease-related changes in tongue movement patterns and speech intelligibility were also determined. Methods: The authors recorded word productions from 11…

  6. A perspective on stem cell modeling of amyotrophic lateral sclerosis.

    PubMed

    de Boer, A Sophie; Eggan, Kevin

    2015-01-01

    Amyotrophic lateral sclerosis is a complex neurodegenerative disease. Limitations in animal models have impeded progress in studying disease pathology and potential drug discovery. Here, we will review recent advances in the development of stem cell models for the study of ALS. Additionally, we will discuss the progress toward therapeutic development derived from these stem cell based assays.

  7. Amyotrophic Lateral Sclerosis: An Introduction to Psychosocial and Behavioral Adaptations.

    ERIC Educational Resources Information Center

    Hoffman, R. Leigh; Decker, Thomas W.

    1993-01-01

    Defines amyotrophic lateral sclerosis (ALS) as motor-neuron disease that is terminal. Discusses symptoms associated with ALS and identifies treatment options. Reviews psychological and behavioral adaptations in regard to ALS clients, their families, and professionals who work with them. Discusses support groups as method of reducing stress for ALS…

  8. Amyotrophic Lateral Sclerosis Patients' Perspectives on Use of Mechanical Ventilation.

    ERIC Educational Resources Information Center

    Young, Jenny M.; And Others

    1994-01-01

    Interviewed 13 amyotrophic lateral sclerosis patients. All believed that they alone should make decision regarding use of mechanical ventilation. Factors they considered important were quality of life, severity of disability, availability of ventilation by means of nasal mask, possible admission to long-term care facility, ability to discontinue…

  9. Incidence of amyotrophic lateral sclerosis in Rhineland-Palatinate, Germany.

    PubMed

    Wolf, Joachim; Wöhrle, Johannes C; Palm, Frederick; Nix, Wilfred A; Maschke, Matthias; Safer, Anton; Becher, Heiko; Grau, Armin J

    2014-06-01

    There is a lack of prospective and population based epidemiological data on amyotrophic lateral sclerosis in Germany to date. The ALS registry Rhineland-Palatinate was established to investigate the incidence, course and phenotypic variety of ALS in this south-west German state of about 4 million inhabitants. During the period 2010-2011, consecutive incident patients with amyotrophic lateral sclerosis according to the revised El Escorial criteria were included and followed up using multiple overlapping sources of case ascertainment. One hundred and forty-six patients were enrolled. The annual crude incidence for amyotrophic lateral sclerosis in Rhineland-Palatinate was 1.8/100,000 person-years (95% CI 1.6-2.2). Male to female ratio was 1.1:1. Incidence increased with age reaching a peak in the 70-74 years age group and declined thereafter. Late-onset ALS (≥ 75 years) was found in 14.4% of patients. About 32% of patients presented with bulbar onset. In conclusion, incidence rate of amyotrophic lateral sclerosis in Rhineland-Palatinate is within the range of other prospective population based registers in Europe and North America. Gender ratio is nearly balanced.

  10. Bulk Topological Proximity Effect.

    PubMed

    Hsieh, Timothy H; Ishizuka, Hiroaki; Balents, Leon; Hughes, Taylor L

    2016-02-26

    Existing proximity effects stem from systems with a local order parameter, such as a local magnetic moment or a local superconducting pairing amplitude. Here, we demonstrate that despite lacking a local order parameter, topological phases also may give rise to a proximity effect of a distinctively inverted nature. We focus on a general construction in which a topological phase is extensively coupled to a second system, and we argue that, in many cases, the inverse topological order will be induced on the second system. To support our arguments, we rigorously establish this "bulk topological proximity effect" for all gapped free-fermion topological phases and representative integrable models of interacting topological phases. We present a terrace construction which illustrates the phenomenological consequences of this proximity effect. Finally, we discuss generalizations beyond our framework, including how intrinsic topological order may also exhibit this effect.

  11. [Announcement of amyotrophic lateral sclerosis diagnosis].

    PubMed

    Couratier, P; Desport, J C; Torny, F; Lacoste, M

    2006-06-01

    Breaking the news of amyotrophic lateral sclerosis (ALS) is considered as a daunting task in most cases and is not a standardizable procedure. However, proven techniques exist to reduce the trauma to the patient. Announcing ALS falls upen the neurologist who must respect the ethical principle of the patient's independence. After the diagnosis is firmly established, the patient should be informed that he or she has a progressive disease of the motor nerves, for which no curative therapy is available. The name of the disease must be stated and explained. If the family history is negative, it is reassuring for the patient and family to know that their children are unlikely to be at risk. Positive aspects (no pain, no disturbances in sensation, cognition, memory and continence) should be stressed as well as the availability of efficient palliative measures for practically all symptoms. Current research efforts, and when available, the possibility of taking part in clinical studies of new drugs should be pointed out as a means of hope. The answer to the question of prognosis should include the information that there are no sudden worsenings to be expected, that the course of ALS may vary between months and decades, that making a firm statement on prognosis all but impossible for any single patient and that respiratory function may worsen during the disease course. It is therefore mandatory to inform patients and families about the existence of ALS patients'associations. The way the patient is told the diagnosis is of great importance and is considered as a multiple-step procedure. Discussion should take place in a private and quiet room and respect some fundamental objectives such as finding out what the patient already knows or suspects and how much more the patient wants to know, observing and responding to the patient's reactions, reinforcing the information and planning the future. It is proven that communicating the diagnosis of ALS in an empathetic fashion is an

  12. Recent advances in the management of brachial plexus injuries

    PubMed Central

    Bhandari, Prem Singh; Maurya, Sanjay

    2014-01-01

    Management of brachial plexus injury is a demanding field of hand and upper extremity surgery. With currently available microsurgical techniques, functional gains are rewarding in upper plexus injuries. However, treatment options in the management of flail and anaesthetic limb are still evolving. Last three decades have witnessed significant developments in the management of these injuries, which include a better understanding of the anatomy, advances in the diagnostic modalities, incorporation of intra-operative nerve stimulation techniques, more liberal use of nerve grafts in bridging nerve gaps, and the addition of new nerve transfers, which selectively neurotise the target muscles close to the motor end plates. Newer research works on the use of nerve allografts and immune modulators (FK 506) are under evaluation in further improving the results in nerve reconstruction. Direct reimplantation of avulsed spinal nerve roots into the spinal cord is another area of research in brachial plexus reconstruction. PMID:25190913

  13. Une cause rare de plexopathie brachiale: une metastase d'un cancer du sein

    PubMed Central

    Maâroufi, Mustapha; Kamaoui, Imane; Boubbou, Meriem; Sqalli, Nadia; Tizniti, Siham

    2014-01-01

    Nous rapportons le cas d'une patiente de 50 ans ayant une histoire de cancer du sein et qui accuse une symptomatologie d'atteinte du plexus brachial. L'IRM montre une masse qui envahie le plexus brachial compatible avec une métastase. L'IRM est très utile pour le diagnostic et l'orientation thérapeutique des plexopathies brachiales chez les femmes présentant un cancer du sein PMID:25360196

  14. Non-invasive magnetoneurography for 3D-monitoring of human compound action current propagation in deep brachial plexus.

    PubMed

    Mackert, B M; Burghoff, M; Hiss, L H; Nordahn, M; Trahms, L; Curio, G

    2000-07-28

    Compound action current (CAC) propagation along nerve fibers running deep in the human brachial plexus was 3D-visualized based on non-invasive 49-channel superconducting quantum interference device (SQUID) magnetoneurography. Spatio-temporal mappings over the upper thoracal quadrant of magnetic fields (<100 fT) evoked upon alternating median and ulnar nerve stimulation in seven healthy volunteers showed consistently smoothly propagating dipolar patterns for both the CAC depolarization and repolarization phases. Multipolar current source reconstructions (i) distinguished spatially CAC propagation pathways along either median or ulnar plexus fibers, allowed (ii) to calculate local conduction velocities ( approximately 56 m/s) and (iii) even to estimate the CAC extension along the nerve fibers (depolarization phase: approximately 11 cm). Thus, for deep proximal nerve segments magnetoneurography can provide a detailed tracing of neural activity which is a prerequisite to localize non-invasively focal nerve malfunctions.

  15. Magnetic resonance imaging of traumatic and non-traumatic brachial plexopathies

    PubMed Central

    Fan, Yiru Lorna; Othman, Mohamad Isham Bin; Dubey, Niraj; Peh, Wilfred CG

    2016-01-01

    Adult-onset brachial plexopathy can be classified into traumatic and non-traumatic aetiologies. Traumatic brachial plexopathies can affect the pre- or postganglionic segments of the plexus. Non-traumatic brachial plexopathies may be due to neoplasia, radiotherapy, thoracic outlet syndrome and idiopathic neuralgic amyotrophy. Conventional magnetic resonance imaging (MRI) is useful to localise the area of injury or disease, and identify the likely cause. This review discusses some of the common causes of adult-onset brachial plexopathy and their imaging features on MRI. We also present a series of cases to illustrate some of these causes and their MRI findings. PMID:27779278

  16. Delayed rupture of a pseudoaneurysm in the brachial artery of a burn reconstruction patient

    PubMed Central

    2013-01-01

    A brachial artery pseudoaneurysm is a rare but serious condition that can be limb threatening. A number of reports have found that it may be the result of damage to the blood vessels around the brachial artery, either directly or indirectly, due to trauma or systemic diseases. We present our experience of delayed pseudoaneurysm rupture of the brachial artery in a rehabilitation patient with burns of the upper extremity who underwent fasciotomy and musculocutaneous flap coverage. We also provide a review of the brachial artery pseudoaneurysm. PMID:23758847

  17. Novel Axillary Approach for Brachial Plexus in Robotic Surgery: A Cadaveric Experiment

    PubMed Central

    Tetik, Cihangir; Uzun, Metin

    2014-01-01

    Brachial plexus surgery using the da Vinci surgical robot is a new procedure. Although the supraclavicular approach is a well known described and used procedure for robotic surgery, axillary approach was unknown for brachial plexus surgery. A cadaveric study was planned to evaluate the robotic axillary approach for brachial plexus surgery. Our results showed that robotic surgery is a very useful method and should be used routinely for brachial plexus surgery and particularly for thoracic outlet syndrome. However, we emphasize that new instruments should be designed and further studies are needed to evaluate in vivo results. PMID:25140251

  18. Post-operative brachial plexus neuropraxia: A less recognised complication of combined plastic and laparoscopic surgeries

    PubMed Central

    Thomas, Jimmy

    2014-01-01

    This presentation is to increase awareness of the potential for brachial plexus injury during prolonged combined plastic surgery procedures. A case of brachial plexus neuropraxia in a 26-year-old obese patient following a prolonged combined plastic surgery procedure was encountered. Nerve palsy due to faulty positioning on the operating table is commonly seen over the elbow and popliteal fossa. However, injury to the brachial plexus has been a recently reported phenomenon due to the increasing number of laparoscopic and robotic procedures. Brachial plexus injury needs to be recognised as a potential complication of prolonged combined plastic surgery. Preventive measures are discussed. PMID:25593443

  19. Primary non-Hodgkin's lymphoma of brachial plexus.

    PubMed

    Suzuki, M; Watanabe, T; Mogi, G

    1999-07-01

    We report the case of a 65-year-old man with non-Hodgkin's lymphoma (NHL) not only in the brachial plexus but also in the central nervous system and parotid gland. He was referred to our hospital for evaluation of a right parotid mass. He also presented with bilateral facial palsy and paralysis of the left superior limb. Computed tomography scan and magnetic resonance imaging revealed mass lesions in the right parapharyngeal space, the deep lobe of the right parotid gland. and the left brachial plexus. A gallium-67 citrate scan demonstrated abnormal uptake in the left brachial plexus. These symptoms and lesions improved during steroid therapy. However, the symptoms worsened again after steroid therapy was discontinued. We performed a right parotidectomy to confirm the diagnosis. Histopathological study revealed NHL. He was treated with combination chemotherapy, and most of the lesions and symptoms, except bilateral facial palsy, improved. Despite follow-up treatment, a brain metastasis occured, and he died 16 months after the onset of symptoms. PMID:10419043

  20. Associations and clinical relevance of aortic-brachial artery stiffness mismatch, aortic reservoir function, and central pressure augmentation.

    PubMed

    Schultz, Martin G; Hughes, Alun D; Davies, Justin E; Sharman, James E

    2015-10-01

    Central augmentation pressure (AP) and index (AIx) predict cardiovascular events and mortality, but underlying physiological mechanisms remain disputed. While traditionally believed to relate to wave reflections arising from proximal arterial impedance (and stiffness) mismatching, recent evidence suggests aortic reservoir function may be a more dominant contributor to AP and AIx. Our aim was therefore to determine relationships among aortic-brachial stiffness mismatching, AP, AIx, aortic reservoir function, and end-organ disease. Aortic (aPWV) and brachial (bPWV) pulse wave velocity were measured in 359 individuals (aged 61 ± 9, 49% male). Central AP, AIx, and aortic reservoir indexes were derived from radial tonometry. Participants were stratified by positive (bPWV > aPWV), negligible (bPWV ≈ aPWV), or negative stiffness mismatch (bPWV < aPWV). Left-ventricular mass index (LVMI) was measured by two-dimensional-echocardiography. Central AP and AIx were higher with negative stiffness mismatch vs. negligible or positive stiffness mismatch (11 ± 6 vs. 10 ± 6 vs. 8 ± 6 mmHg, P < 0.001 and 24 ± 10 vs. 24 ± 11 vs. 21 ± 13%, P = 0.042). Stiffness mismatch (bPWV-aPWV) was negatively associated with AP (r = -0.18, P = 0.001) but not AIx (r = -0.06, P = 0.27). Aortic reservoir pressure strongly correlated to AP (r = 0.81, P < 0.001) and AIx (r = 0.62, P < 0.001) independent of age, sex, heart rate, mean arterial pressure, and height (standardized β = 0.61 and 0.12, P ≤ 0.001). Aortic reservoir pressure independently predicted abnormal LVMI (β = 0.13, P = 0.024). Positive aortic-brachial stiffness mismatch does not result in higher AP or AIx. Aortic reservoir function, rather than discrete wave reflection from proximal arterial stiffness mismatching, provides a better model description of AP and AIx and also has clinical relevance as evidenced by an independent association of aortic reservoir pressure with LVMI.

  1. Sporadic Parkinson disease and amyotrophic lateral sclerosis complex (Brait-Fahn-Schwartz disease).

    PubMed

    Manno, Concetta; Lipari, Alessio; Bono, Valeria; Taiello, Alfonsa Claudia; La Bella, Vincenzo

    2013-03-15

    Clinical evidence for parkinsonism may accompany Amyotrophic Lateral Sclerosis with a frequency ranging from 5% to 17%. The concurrence of Amyotrophic Lateral Sclerosis and Parkinson's disease, outside the known Guam and Kii Peninsula foci, is instead rare, but this raises the possibility of a common pathogenesis. Clinically this complex presents with a levodopa-responsive parkinsonism and Amyotrophic Lateral Sclerosis and has been termed Brait-Fahn-Schwartz disease. Here we describe two patients with this uncommon neurodegenerative complex. Both presented with Parkinson disease and progressed to a full blown Amyotrophic Lateral Sclerosis. We further suggest that the association of Parkinson disease and Amyotrophic Lateral Sclerosis represents a distinct nosological entity, which should be kept separated from extrapyramidal signs and symptoms that may occur in Amyotrophic Lateral Sclerosis.

  2. Proximal fifth metatarsal fractures.

    PubMed

    Ramponi, Denise R

    2013-01-01

    The most common fracture of the foot is a fracture of the proximal fifth metatarsal. In general, there are 3 types of fractures involving the proximal fifth metatarsal area, including a proximal diaphyseal stress fracture, a Jones fracture, and an avulsion fracture of the tuberosity. Some fractures of the fifth metatarsal heal without difficulty, whereas some have the potential for nonunion or delayed healing. Each fracture has some variation in the anatomical location on the fifth metatarsal, the mechanism of injury, the radiographic findings, and the treatment plan. Avulsion fractures of the tuberosity often heal without difficulty, yet fractures distal to the area of insertion of the peroneus brevis tendon are prone to nonunion and delayed healing (). Differential diagnosis of a fifth metatarsal midfoot injury includes ankle sprains, midfoot sprains, plantar facial ruptures, peroneus tendon ruptures, and other foot fractures.

  3. Capacitive proximity sensor

    DOEpatents

    Kronberg, J.W.

    1994-05-31

    A proximity sensor based on a closed field circuit is disclosed. The circuit comprises a ring oscillator using a symmetrical array of plates that creates an oscillating displacement current. The displacement current varies as a function of the proximity of objects to the plate array. Preferably the plates are in the form of a group of three pair of symmetric plates having a common center, arranged in a hexagonal pattern with opposing plates linked as a pair. The sensor produces logic level pulses suitable for interfacing with a computer or process controller. The proximity sensor can be incorporated into a load cell, a differential pressure gauge, or a device for measuring the consistency of a characteristic of a material where a variation in the consistency causes the dielectric constant of the material to change. 14 figs.

  4. Capacitive proximity sensor

    DOEpatents

    Kronberg, James W.

    1994-01-01

    A proximity sensor based on a closed field circuit. The circuit comprises a ring oscillator using a symmetrical array of plates that creates an oscillating displacement current. The displacement current varies as a function of the proximity of objects to the plate array. Preferably the plates are in the form of a group of three pair of symmetric plates having a common center, arranged in a hexagonal pattern with opposing plates linked as a pair. The sensor produces logic level pulses suitable for interfacing with a computer or process controller. The proximity sensor can be incorporated into a load cell, a differential pressure gauge, or a device for measuring the consistency of a characteristic of a material where a variation in the consistency causes the dielectric constant of the material to change.

  5. Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment.

    PubMed

    Hirayanagi, Kimitoshi; Sato, Masayuki; Furuta, Natsumi; Makioka, Kouki; Ikeda, Yoshio

    2016-01-01

    A 24-year-old Japanese woman developed anterocollis, weakness of the proximal arms, and subsequent cognitive impairment. A neurological examination revealed amyotrophic lateral sclerosis (ALS) without a family history. Systemic muscle atrophy progressed rapidly. Cerebral MRI clearly exhibited high signal intensities along the bilateral pyramidal tracts. An analysis of the FUS gene revealed a heterozygous two-base pair deletion, c.1507-1508delAG (p.G504WfsX515). A subset of juvenile-onset familial/sporadic ALS cases with FUS gene mutations reportedly demonstrates mental retardation or learning difficulty. Our study emphasizes the importance of conducting a FUS gene analysis in juvenile-onset ALS cases, even when no family occurrence is confirmed. PMID:26984092

  6. Unusual proximal tibiofibular synostosis.

    PubMed

    Takai, S; Yoshino, N; Hirasawa, Y

    1999-01-01

    Proximal tibiofibular synostosis without multiple hereditary exostosis is extremely rare and only 7 cases have been reported in the literature. All of the previously reported cases accompanied deformities such as distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. The present case of a 24-year-old man had neither a history of trauma nor deformity around the knee. Therefore, it was suggested that this type of synostosis occurred after epiphyseal plate closure. PMID:10741527

  7. Cerebrospinal Fluid Biomarkers for Kii Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex.

    PubMed

    Nakayama, Yui; Morimoto, Satoru; Yoneda, Misao; Kuzuhara, Shigeki; Kokubo, Yasumasa

    2013-01-01

    Objective. Amyotrophic lateral sclerosis/parkinsonism-dementia complex is classified as one of the tauopathies. Methods. The total tau, phosphorylated tau, and amyloid β42 levels were assayed in cerebrospinal fluid from patients with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex (n = 12), Alzheimer's disease (n = 9), Parkinson's disease (n = 9), amyotrophic lateral sclerosis (n = 11), and controls (n = 5) using specific enzyme-linked immunosorbent assay methods. Results. Total tau and phosphorylated tau did not increase and amyloid β42 was relatively reduced in Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex. Relatively reduced amyloid β42 might discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from amyotrophic lateral sclerosis and Parkinson's disease, and the ratios of phosphorylated-tau to amyloid β42 could discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer's disease. Conclusions. Cerebrospinal fluid analysis may be useful to differentiate amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer's disease, amyotrophic lateral sclerosis, and Parkinson's disease.

  8. Correlation between ultrasound imaging, cross-sectional anatomy, and histology of the brachial plexus: a review.

    PubMed

    van Geffen, Geert J; Moayeri, Nizar; Bruhn, Jörgen; Scheffer, Gert J; Chan, Vincent W; Groen, Gerbrand J

    2009-01-01

    The anatomy of the brachial plexus is complex. To facilitate the understanding of the ultrasound appearance of the brachial plexus, we present a review of important anatomic considerations. A detailed correlation of reconstructed, cross-sectional gross anatomy and histology with ultrasound sonoanatomy is provided.

  9. Percutaneous Extraluminal (Subintimal) Recanalization of a Brachial Artery Occlusion Following Cardiac Catheterization

    SciTech Connect

    Bolia, Amman; Nasim, Akhtar; Bell, Peter R.F.

    1996-05-15

    A 47-year-old woman presented with disabling right arm claudication 10 weeks after Sones cardiac catheterization via a brachial artery cut-down. A technique of extraluminal recanalization of the brachial artery occlusion, used to treat this patient, is described.

  10. Penile erectile dysfunction after brachial plexus root avulsion injury in rats

    PubMed Central

    Fu, Guo; Qin, Bengang; Jiang, Li; Huang, Xijun; Lu, Qinsen; Zhang, Dechun; Liu, Xiaolin; Zhu, Jiakai; Zheng, Jianwen; Li, Xuejia; Gu, Liqiang

    2014-01-01

    Our previous studies have demonstrated that some male patients suffering from brachial plexus injury, particularly brachial plexus root avulsion, show erectile dysfunction to varying degrees. However, the underlying mechanism remains poorly understood. In this study, we evaluated the erectile function after establishing brachial plexus root avulsion models with or without spinal cord injury in rats. After these models were established, we administered apomorphine (via a subcutaneous injection in the neck) to observe changes in erectile function. Rats subjected to simple brachial plexus root avulsion or those subjected to brachial plexus root avulsion combined with spinal cord injury had significantly fewer erections than those subjected to the sham operation. Expression of neuronal nitric oxide synthase did not change in brachial plexus root avulsion rats. However, neuronal nitric oxide synthase expression was significantly decreased in brachial plexus root avulsion + spinal cord injury rats. These findings suggest that a decrease in neuronal nitric oxide synthase expression in the penis may play a role in erectile dysfunction caused by the combination of brachial plexus root avulsion and spinal cord injury. PMID:25422647

  11. Anatomical Variations of Brachial Artery - Its Morphology, Embryogenesis and Clinical Implications

    PubMed Central

    KS, Siddaraju; Venumadhav, Nelluri; Sharma, Ashish; Kumar, Neeraj

    2014-01-01

    Background: Accurate knowledge of variation pattern of the major arteries of upper limb is of considerable practical importance in the conduct of reparative surgery in the arm, forearm and hand however brachial artery and its terminal branches variations are less common. Aim: Accordingly the present study was designed to evaluate the anatomical variations of the brachial artery and its morphology, embryogenesis and clinical implications. Materials and Methods: In an anatomical study 140 upper limb specimens of 70 cadavers (35 males and 35 females) were used and anatomical variations of the brachial artery have been documented. Results: Accessory brachial artery was noted in eight female cadavers (11.43%). Out of eight cadavers in three cadavers (4.29%) an unusual bilateral accessory brachial artery arising from the axillary artery and it is continuing in the forearm as superficial accessory ulnar artery was noted. Rare unusual variant unilateral accessory brachial artery and its reunion with the main brachial artery in the cubital fossa and its variable course in relation to the musculocutaneous nerve and median nerve were also noted in five cadavers (7.14%). Conclusion: As per our knowledge such anatomical variations of brachial artery and its terminal branches with their relation to the surrounding structures are not reported in the modern medical literature. An awareness of such a presence is valuable for the surgeons and radiologists in evaluation of angiographic images, vascular and re-constructive surgery or appropriate treatment for compressive neuropathies. PMID:25653931

  12. XQL and Proximal Nodes.

    ERIC Educational Resources Information Center

    Baeza-Yates, Ricardo; Navarro, Gonzalo

    2002-01-01

    Discussion of models that have been developed to structure text documents for information retrieval focuses on XML and its proposed query language XQL. Considers efficiency of the query engine and shows that an already existing model, Proximal Nodes, can be used as an efficient query engine behind an XQL front-end. (Author/LRW)

  13. Traumatic proximal tibiofibular dislocation.

    PubMed

    Burgos, J; Alvarez-Montero, R; Gonzalez-Herranz, P; Rapariz, J M

    1997-01-01

    Proximal tibiofibular dislocation is an exceptional lesion. Rarer still is its presentation in childhood. We describe the clinical case of a 6-year-old boy, the victim of a road accident. He had a tibiofibular dislocation associated with a metaphyseal fracture of the tibia.

  14. Proximate Analysis of Coal

    ERIC Educational Resources Information Center

    Donahue, Craig J.; Rais, Elizabeth A.

    2009-01-01

    This lab experiment illustrates the use of thermogravimetric analysis (TGA) to perform proximate analysis on a series of coal samples of different rank. Peat and coke are also examined. A total of four exercises are described. These are dry exercises as students interpret previously recorded scans. The weight percent moisture, volatile matter,…

  15. High resolution neurography of the brachial plexus by 3 Tesla magnetic resonance imaging.

    PubMed

    Cejas, C; Rollán, C; Michelin, G; Nogués, M

    2016-01-01

    The study of the structures that make up the brachial plexus has benefited particularly from the high resolution images provided by 3T magnetic resonance scanners. The brachial plexus can have mononeuropathies or polyneuropathies. The mononeuropathies include traumatic injuries and trapping, such as occurs in thoracic outlet syndrome due to cervical ribs, prominent transverse apophyses, or tumors. The polyneuropathies include inflammatory processes, in particular chronic inflammatory demyelinating polyneuropathy, Parsonage-Turner syndrome, granulomatous diseases, and radiation neuropathy. Vascular processes affecting the brachial plexus include diabetic polyneuropathy and the vasculitides. This article reviews the anatomy of the brachial plexus and describes the technique for magnetic resonance neurography and the most common pathologic conditions that can affect the brachial plexus. PMID:26860655

  16. High resolution neurography of the brachial plexus by 3 Tesla magnetic resonance imaging.

    PubMed

    Cejas, C; Rollán, C; Michelin, G; Nogués, M

    2016-01-01

    The study of the structures that make up the brachial plexus has benefited particularly from the high resolution images provided by 3T magnetic resonance scanners. The brachial plexus can have mononeuropathies or polyneuropathies. The mononeuropathies include traumatic injuries and trapping, such as occurs in thoracic outlet syndrome due to cervical ribs, prominent transverse apophyses, or tumors. The polyneuropathies include inflammatory processes, in particular chronic inflammatory demyelinating polyneuropathy, Parsonage-Turner syndrome, granulomatous diseases, and radiation neuropathy. Vascular processes affecting the brachial plexus include diabetic polyneuropathy and the vasculitides. This article reviews the anatomy of the brachial plexus and describes the technique for magnetic resonance neurography and the most common pathologic conditions that can affect the brachial plexus.

  17. Subacute diabetic proximal neuropathy

    NASA Technical Reports Server (NTRS)

    Pascoe, M. K.; Low, P. A.; Windebank, A. J.; Litchy, W. J.

    1997-01-01

    OBJECTIVE: To evaluate the clinical, electrophysiologic, autonomic, and neuropathologic characteristics and the natural history of subacute diabetic proximal neuropathy and its response to immunotherapy. MATERIAL AND METHODS: For the 12-year period from 1983 to 1995, we conducted a retrospective review of medical records of Mayo Clinic patients with diabetes who had subacute onset and progression of proximal weakness. The responses of treated versus untreated patients were compared statistically. RESULTS: During the designated study period, 44 patients with subacute diabetic proximal neuropathy were encountered. Most patients were middle-aged or elderly, and no sex preponderance was noted. The proximal muscle weakness often was associated with reduced or absent lower extremity reflexes. Associated weight loss was a common finding. Frequently, patients had some evidence of demyelination on nerve conduction studies, but it invariably was accompanied by concomitant axonal degeneration. The cerebrospinal fluid protein concentration was usually increased. Diffuse and substantial autonomic failure was generally present. In most cases, a sural nerve biopsy specimen suggested demyelination, although evidence of an inflammatory infiltrate was less common. Of 12 patients who received treatment (with prednisone, intravenous immune globulin, or plasma exchange), 9 had improvement of their conditions, but 17 of 29 untreated patients (59%) with follow-up also eventually had improvement, albeit at a much slower rate. Improvement was usually incomplete. CONCLUSION: We suggest that the entity of subacute diabetic proximal neuropathy is an extensive and severe variant of bilateral lumbosacral radiculoplexopathy, with some features suggestive of an immune-mediated cause. It differs from chronic inflammatory demyelinating polyradiculoneuropathy in that most cases have a more restricted distribution and seem to be monophasic and self-limiting. The efficacy of immunotherapy is unproved

  18. Boston Children's Hospital approach to brachial plexus birth palsy.

    PubMed

    Vuillermin, Carley; Bauer, Andrea S

    2016-07-01

    The treatment of infants with brachial plexus birth palsy (BPBP) continues to be a focus at Boston Children's Hospital. Over the last 15 years, there have been many developments in the treatment of infants with BPBP. Some of the greatest changes have emerged through technical advances such as the advent of distal nerve transfers to allow targeted reinnervation as well as through research to understand the pathoanatomical changes that lead to glenohumeral dysplasia and how this dysplasia can be remodeled. This review will discuss our current practice of evaluation of the infant with BPBP, techniques for microsurgical reconstruction, and prevention and treatment of secondary glenohumeral dysplasia. PMID:27137763

  19. Obesity in children with brachial plexus birth palsy.

    PubMed

    Singh, Avreeta K; Mills, Janith; Bauer, Andrea S; Ezaki, Marybeth

    2015-11-01

    Fetal macrosomia is associated with a 14-fold increased risk of brachial plexus birth palsy (BPBP), and is a predictor of childhood obesity. The purpose of this study was to identify the relationships between BPBP, fetal macrosomia, and childhood obesity. We retrospectively reviewed 214 children with BPBP. The average age was 8 years and 53% had a Narakas 1 grade BPBP. Overall, 49% of children were normal weight, 22% overweight, and 29% obese. Of the children with a history of fetal macrosomia, 41% were obese; a statistically significant difference. Overall quality of life scores, however, were not correlated with obesity. PMID:26163865

  20. Obesity in children with brachial plexus birth palsy.

    PubMed

    Singh, Avreeta K; Mills, Janith; Bauer, Andrea S; Ezaki, Marybeth

    2015-11-01

    Fetal macrosomia is associated with a 14-fold increased risk of brachial plexus birth palsy (BPBP), and is a predictor of childhood obesity. The purpose of this study was to identify the relationships between BPBP, fetal macrosomia, and childhood obesity. We retrospectively reviewed 214 children with BPBP. The average age was 8 years and 53% had a Narakas 1 grade BPBP. Overall, 49% of children were normal weight, 22% overweight, and 29% obese. Of the children with a history of fetal macrosomia, 41% were obese; a statistically significant difference. Overall quality of life scores, however, were not correlated with obesity.

  1. A compensatory subpopulation of motor neurons in a mouse model of amyotrophic lateral sclerosis.

    PubMed

    Schaefer, Anneliese M; Sanes, Joshua R; Lichtman, Jeff W

    2005-09-26

    Amyotrophic lateral sclerosis is a fatal paralytic disease that targets motor neurons, leading to motor neuron death and widespread denervation atrophy of muscle. Previous electrophysiological data have shown that some motor axon branches attempt to compensate for loss of innervation, resulting in enlarged axonal arbors. Recent histological assays have shown that during the course of the disease some axonal branches die back. We thus asked whether the two types of behavior, die-back and compensatory growth, occur in different branches of single neurons or, alternatively, whether entire motor units are of one type or the other. We used high-resolution in vivo imaging in the G93A SOD1 mouse model, bred to express transgenic yellow fluorescent protein in all or subsets of motor neurons. Time-lapse imaging showed that degenerative axon branches are easily distinguished from those undergoing compensatory reinnervation, showing fragmentation of terminal branches but sparing of the more proximal axon. Reconstruction of entire motor units showed that some were abnormally large. Surprisingly, these large motor units contained few if any degenerating synapses. Some small motor units, however, no longer possessed any neuromuscular contacts at all, giving the appearance of "winter trees." Thus, degenerative versus regenerative changes are largely confined to distinct populations of neurons within the same motor pool. Identification of factors that protect "compensatory" motor neurons from degenerative changes may provide new targets for therapeutic intervention.

  2. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis.

    PubMed

    Hanby, Martha F; Scott, Kirsten M; Scotton, William; Wijesekera, Lokesh; Mole, Thomas; Ellis, Catherine E; Leigh, P Nigel; Shaw, Christopher E; Al-Chalabi, Ammar

    2011-12-01

    Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons with a median survival of 2 years. Most patients have no family history of amyotrophic lateral sclerosis, but current understanding of such diseases suggests there should be an increased risk to relatives. Furthermore, it is a common question to be asked by patients and relatives in clinic. We therefore set out to determine the risk of amyotrophic lateral sclerosis to first degree relatives of patients with sporadic amyotrophic lateral sclerosis attending a specialist clinic. Case records of patients with sporadic amyotrophic lateral sclerosis seen at a tertiary referral centre over a 16-year period were reviewed, and pedigree structures extracted. All individuals who had originally presented with sporadic amyotrophic lateral sclerosis, but who subsequently had an affected first degree relative, were identified. Calculations were age-adjusted using clinic population demographics. Probands (n = 1502), full siblings (n = 1622) and full offspring (n = 1545) were identified. Eight of the siblings and 18 offspring had developed amyotrophic lateral sclerosis. The unadjusted risk of amyotrophic lateral sclerosis over the observation period was 0.5% for siblings and 1.0% for offspring. Age information was available for 476 siblings and 824 offspring. For this subset, the crude incidence of amyotrophic lateral sclerosis was 0.11% per year (0.05-0.21%) in siblings and 0.11% per year (0.06-0.19%) in offspring, and the clinic age-adjusted incidence rate was 0.12% per year (0.04-0.21%) in siblings. By age 85, siblings were found to have an 8-fold increased risk of amyotrophic lateral sclerosis, in comparison to the background population. In practice, this means the risk of remaining unaffected by age 85 dropped from 99.7% to 97.6%. Relatives of people with sporadic amyotrophic lateral sclerosis have a small but definite increased risk of being affected.

  3. Proximal Point Methods Revisited

    NASA Astrophysics Data System (ADS)

    Boikanyo, Oganeditse A.; Moroşanu, Gheorghe

    2011-09-01

    The proximal point methods have been widely used in the last decades to approximate the solutions of nonlinear equations associated with monotone operators. Inspired by the iterative procedure defined by B. Martinet (1970), R.T. Rockafellar introduced in 1976 the so-called proximal point algorithm (PPA) for a general maximal monotone operator. The sequence generated by this iterative method is weakly convergent under appropriate conditions, but not necessarily strongly convergent, as proved by O. Güler (1991). This fact explains the introduction of different modified versions of the PPA which generate strongly convergent sequences under appropriate conditions, including the contraction-PPA defined by H.K. Xu in 2002. Here we discuss Xu's modified PPA as well as some of its generalizations. Special attention is paid to the computational errors, in particular the original Rockafellar summability assumption is replaced by the condition that the error sequence converges to zero strongly.

  4. Proximity Networks and Epidemics

    NASA Astrophysics Data System (ADS)

    Guclu, Hasan; Toroczkai, Zoltán

    2007-03-01

    We presented the basis of a framework to account for the dynamics of contacts in epidemic processes, through the notion of dynamic proximity graphs. By varying the integration time-parameter T, which is the period of infectivity one can give a simple account for some of the differences in the observed contact networks for different diseases, such as smallpox, or AIDS. Our simplistic model also seems to shed some light on the shape of the degree distribution of the measured people-people contact network from the EPISIM data. We certainly do not claim that the simplistic graph integration model above is a good model for dynamic contact graphs. It only contains the essential ingredients for such processes to produce a qualitative agreement with some observations. We expect that further refinements and extensions to this picture, in particular deriving the link-probabilities in the dynamic proximity graph from more realistic contact dynamics should improve the agreement between models and data.

  5. Injury mechanisms in supraclavicular stretch injuries of the brachial plexus.

    PubMed

    Soldado, Francisco; Ghizoni, Marcos F; Bertelli, Jayme

    2016-02-01

    The aim of this study was to describe the mechanisms involved in stretch injuries of the brachial plexus. One hundred and fifty consecutive patients with supraclavicular brachial plexus injuries (BPI) were asked about the mechanism of injury during the actual injury event, particularly about the type of trauma to their shoulder, shoulder girdle and head. Fifty-seven of the patients provided enough information about their accident to allow for analysis of the shoulder trauma. The injury mechanism for all patients having upper root or total palsy (n=46) was described as a direct vertical impact to the shoulder. In 44 of these patients, the trauma followed a motorcycle accident and, in most of them, the patient hit a fixed vertical structure before falling to the ground. The injury mechanism for the lower root palsy cases (n=11) was variable. The most frequent mechanism was forceful anterior shoulder compression by a car seat belt. We found that injury mechanisms differed significantly from the ones commonly discussed in published studies. PMID:27117025

  6. Rare case of a liposarcoma in the brachial plexus.

    PubMed

    Kosutic, D; Gajanan, K

    2016-09-01

    Introduction A liposarcoma is a rare cancer of connective tissues that resemble fat cells under light microscopy. Case History A 73-year old female patient presented to our tertiary cancer centre with an eight-year history of a large, slow-growing painless mass in the right axilla. Magnetic resonance imaging showed a lipomatous, well-circumscribed mass of dimension 30 × 16 × 10cm extending towards the right clavicle and causing deformation to the right chest wall and right breast. Surgery revealed a large tumour that had stretched all three cords of the brachial plexus. Histopathology was consistent with a diagnosis of a low-grade liposarcoma. After a period of neuropraxia, the patient returned to normal activities 4 months after surgery. Conclusions Although extremely rare, low-grade liposarcomas of the brachial plexus should be considered in the differential diagnosis of a slow-growing axillary mass. Referral to a tertiary sarcoma centre is essential for an appropriate diagnosis, adequate treatment, and long-term follow-up. PMID:27241607

  7. The Impact of Pediatric Brachial Plexus Injury on Families

    PubMed Central

    Allgier, Allison; Overton, Myra; Welge, Jeffrey; Mehlman, Charles T.

    2015-01-01

    Purpose To determine the impact on families of children with brachial plexus injuries in order to best meet their clinical and social needs. Methods Our cross-sectional study included families with children between the ages of 1 and 18 with birth or non-neonatal brachial plexus injuries (BPI). The consenting parent or guardian completed a demographic questionnaire and the validated Impact on Family Scale during a single assessment. Total scores can range from 0-100, with the higher the score indicating a higher impact on the family. Factor analysis and item-total correlations were used to examine structure, individual items, and dimensions of family impact. Results One hundred two caregivers participated. Overall, families perceived various dimensions of impact on having a child with a BPI. Total family impact was 43. The 2 individual items correlating most strongly with the overall total score were from the financial dimension of the Impact on Family Scale. The strongest demographic relationship was traveling nationally for care and treatment of the BPI. Severity of injury was marginally correlated with impact on the family. Parent-child agreement about the severity of the illness was relatively high. Conclusion Caretakers of children with a BPI perceived impact on their families in the form of personal strain, family/social factors, financial stress, and mastery. A multidisciplinary clinical care team should address the various realms of impact on family throughout the course of treatment. Level of Evidence II Prognostic PMID:25936738

  8. Lou Gehrig and amyotrophic lateral sclerosis. Is vitamin E to be revisited?

    PubMed

    Reider, C R; Paulson, G W

    1997-05-01

    Investigators are beginning to reexamine the use of vitamin E for the treatment of amyotrophic lateral sclerosis. Vitamin E was isolated in the 1920s, and the results of animal studies led rapidly to clinical use. Regrettably, vitamin E did not ameliorate the progression of amyotrophic lateral sclerosis for Lou Gehrig, but more recent advances may identify subpopulations that do respond to vitamin E.

  9. Effect of Collateral Sprouting on Donor Nerve Function After Nerve Coaptation: A Study of the Brachial Plexus

    PubMed Central

    Reichert, Paweł; Kiełbowicz, Zdzisław; Dzięgiel, Piotr; Puła, Bartosz; Wrzosek, Marcin; Bocheńska, Aneta; Gosk, Jerzy

    2016-01-01

    Background The aim of the present study was to evaluate the donor nerve from the C7 spinal nerve of the rabbit brachial plexus after a coaptation procedure. Assessment was performed of avulsion of the C5 and C6 spinal nerves treated by coaptation of these nerves to the C7 spinal nerve. Material/Methods After nerve injury, fourteen rabbits were treated by end-to-side coaptation (ETS), and fourteen animals were treated by side-to-side coaptation (STS) on the right brachial plexus. Electrophysiological and histomorphometric analyses and the skin pinch test were used to evaluate the outcomes. Results There was no statistically significant difference in the G-ratio proximal and distal to the coaptation in the ETS group, but the differences in the axon, myelin sheath and fiber diameters were statistically significant. The comparison of the ETS and STS groups distal to the coaptation with the controls demonstrated statistically significant differences in the fiber, axon, and myelin sheath diameters. With respect to the G-ratio, the ETS group exhibited no significant differences relative to the control, whereas the G-ratio in the STS group and the controls differed significantly. In the electrophysiological study, the ETS and STS groups exhibited major changes in the biceps and subscapularis muscles. Conclusions The coaptation procedure affects the histological structure of the nerve donor, but it does not translate into changes in nerve conduction or the sensory function of the limb. The donor nerve lesion in the ETS group is transient and has minimal clinical relevance. PMID:26848925

  10. Association between alcohol consumption and amyotrophic lateral sclerosis: a meta-analysis of five observational studies.

    PubMed

    E, Meng; Yu, Sufang; Dou, Jianrui; Jin, Wu; Cai, Xiang; Mao, Yiyang; Zhu, Daojian; Yang, Rumei

    2016-08-01

    The purpose of this study is to examine the association between alcohol consumption and amyotrophic lateral sclerosis. Published literature on the association between alcohol consumption and amyotrophic lateral sclerosis was retrieved from the PubMed and Embase databases. Two authors independently extracted the data. The quality of the identified studies was evaluated according to the Newcastle-Ottawa scale. Subgroup and sensitivity analyses were performed and publication bias was assessed. Five articles, including one cohort study and seven case-control studies, and a total of 431,943 participants, were identified. The odds ratio for the association between alcohol consumption and amyotrophic lateral sclerosis was 0.57 (95 % confidence interval 0.51-0.64). Subgroup and sensitivity analyses confirmed the result. Evidence for publication bias was detected. Alcohol consumption reduced the risk of developing amyotrophic lateral sclerosis compared with non-drinking. Alcohol, therefore, has a potentially neuroprotective effect on the development of amyotrophic lateral sclerosis.

  11. Avulsion of the brachial plexus in a great horned owl (Bubo virginaus)

    USGS Publications Warehouse

    Moore, M.P.; Stauber, E.; Thomas, N.J.

    1989-01-01

    Avulsion of the brachial plexus was documented in a Great Horned Owl (Bubo virginianus). A fractured scapula was also present. Cause of these injuries was not known but was thought to be due to trauma. Differentiation of musculoskeletal injury from peripheral nerve damage can be difficult in raptors. Use of electromyography and motor nerve conduction velocity was helpful in demonstrating peripheral nerve involvement. A brachial plexus avulsion was suspected on the basis of clinical signs, presence of electromyographic abnormalities in all muscles supplied by the nerves of the brachial plexus and absence of median-ulnar motor nerve conduction velocities.

  12. [Ipsilateral brachial plexus C7 root transfer. Presentation of a case and a literature review].

    PubMed

    Vergara-Amador, Enrique; Ramírez, Alejandro

    2014-01-01

    The C7 root in brachial plexus injuries has been used since 1986, since the first description by Gu at that time. This root can be used completely or partially in ipsilateral or contralateral lesions of the brachial plexus. A review of the literature and the case report of a 21-month-old girl with stab wounds to the neck and section of the C5 root of the right brachial plexus are presented. A transfer of the anterior fibres of the ipsilateral C7 root was performed. At 9 months there was complete recovery of abduction and external rotation of the shoulder. PMID:23474130

  13. Proximate Composition Analysis.

    PubMed

    2016-01-01

    The proximate composition of foods includes moisture, ash, lipid, protein and carbohydrate contents. These food components may be of interest in the food industry for product development, quality control (QC) or regulatory purposes. Analyses used may be rapid methods for QC or more accurate but time-consuming official methods. Sample collection and preparation must be considered carefully to ensure analysis of a homogeneous and representative sample, and to obtain accurate results. Estimation methods of moisture content, ash value, crude lipid, total carbohydrates, starch, total free amino acids and total proteins are put together in a lucid manner.

  14. [Dysfunction of mitochondrial dynamic and distribution in Amyotrophic Lateral Sclerosis].

    PubMed

    Walczak, Jarosław; Szczepanowska, Joanna

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a complex disease leading to degradation of motor neurons. One of the early symptoms of many neurodegenerative disorders are mitochondrial dysfunctions. Since few decades mitochondrial morphology changes have been observed in tissues of patients with ALS. Mitochondria are highly dynamic organelles which constantly undergo continuous process of fusion and fission and are actively transported within the cell. Proper functioning of mitochondrial dynamics and distribution is crucial for cell survival, especially neuronal cells that have long axons. This article summarizes the current knowledge about the role of mitochondrial dynamics and distribution in pathophysiology of familial and sporadic form of ALS. PMID:26689011

  15. Ensuring continued progress in biomarkers for amyotrophic lateral sclerosis

    PubMed Central

    Turner, Martin R; Benatar, Michael

    2015-01-01

    Multiple candidate biomarkers for amyotrophic lateral sclerosis (ALS) have emerged across a range of platforms. Replication of results, however, has been absent in all but a few cases, and the range of control samples has been limited. If progress toward clinical translation is to continue, the specific biomarker needs of ALS, which differ from those of other neurodegenerative disorders, as well as the challenges inherent to longitudinal ALS biomarker cohorts, must be understood. Appropriate application of multimodal approaches, international collaboration, presymptomatic studies, and biomarker integration into future therapeutic trials are among the essential priorities going forward. PMID:25288265

  16. Complementary and Alternative Therapies in Amyotrophic Lateral Sclerosis.

    PubMed

    Bedlack, Richard S; Joyce, Nanette; Carter, Gregory T; Paganoni, Sabrina; Karam, Chafic

    2015-11-01

    Given the severity of their illness and lack of effective disease-modifying agents, it is not surprising that most patients with amyotrophic lateral sclerosis (ALS) consider trying complementary and alternative therapies. Some of the most commonly considered alternative therapies include special diets, nutritional supplements, cannabis, acupuncture, chelation, and energy healing. This article reviews these in detail. The authors also describe 3 models by which physicians may frame discussions about alternative therapies: paternalism, autonomy, and shared decision making. Finally, the authors review a program called ALSUntangled, which uses shared decision making to review alternative therapies for ALS. PMID:26515629

  17. Complementary and Alternative Therapies in Amyotrophic Lateral Sclerosis.

    PubMed

    Bedlack, Richard S; Joyce, Nanette; Carter, Gregory T; Paganoni, Sabrina; Karam, Chafic

    2015-11-01

    Given the severity of their illness and lack of effective disease-modifying agents, it is not surprising that most patients with amyotrophic lateral sclerosis (ALS) consider trying complementary and alternative therapies. Some of the most commonly considered alternative therapies include special diets, nutritional supplements, cannabis, acupuncture, chelation, and energy healing. This article reviews these in detail. The authors also describe 3 models by which physicians may frame discussions about alternative therapies: paternalism, autonomy, and shared decision making. Finally, the authors review a program called ALSUntangled, which uses shared decision making to review alternative therapies for ALS.

  18. Mitochondrial dysfunction in amyotrophic lateral sclerosis - a valid pharmacological target?

    PubMed

    Muyderman, H; Chen, T

    2014-04-01

    Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by the selective death of upper and lower motor neurons which ultimately leads to paralysis and ultimately death. Pathological changes in ALS are closely associated with pronounced and progressive changes in mitochondrial morphology, bioenergetics and calcium homeostasis. Converging evidence suggests that impaired mitochondrial function could be pivotal in the rapid neurodegeneration of this condition. In this review, we provide an update of recent advances in understanding mitochondrial biology in the pathogenesis of ALS and highlight the therapeutic value of pharmacologically targeting mitochondrial biology to slow disease progression.

  19. Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants.

    PubMed

    Saberi, Shahram; Stauffer, Jennifer E; Schulte, Derek J; Ravits, John

    2015-11-01

    The neuropathologic molecular signature common to almost all sporadic amyotrophic lateral sclerosis (ALS) and most familial ALS is TDP-43 immunoreactive neuronal cytoplasmic inclusions. The neuropathologic and molecular neuropathologic features of ALS variants, primarily lateral sclerosis and progressive muscular atrophy, are less certain but also seem to share the primary features of ALS. Genetic causes, including mutations in SOD1, TDP-43, FUS, and C9orf72, all have distinctive molecular neuropathologic signatures. Neuropathology will continue to play an increasingly key role in solving the puzzle of ALS pathogenesis.

  20. Frontotemporal Dysfunction and Dementia in Amyotrophic Lateral Sclerosis.

    PubMed

    Woolley, Susan C; Strong, Michael J

    2015-11-01

    Although amyotrophic lateral sclerosis (ALS) is classically considered a disorder exclusively affecting motor neurons, there is substantial clinical, neuroimaging, and neuropathologic evidence that more than half of patients have an associated syndrome of frontotemporal dysfunction. These syndromes range from frontotemporal dementia to behavioral or cognitive syndromes. Neuroimaging and neuropathologic findings are consistent with frontotemporal lobar degeneration that underpins alterations in network connectivity. Future clinical trials need to be stratified based on the presence or absence of frontotemporal dysfunction on the disease course of ALS. PMID:26515622

  1. Proximity networks and epidemics

    NASA Astrophysics Data System (ADS)

    Toroczkai, Zoltán; Guclu, Hasan

    2007-05-01

    Disease spread in most biological populations requires the proximity of agents. In populations where the individuals have spatial mobility, the contact graph is generated by the “collision dynamics” of the agents, and thus the evolution of epidemics couples directly to the spatial dynamics of the population. We first briefly review the properties and the methodology of an agent-based simulation (EPISIMS) to model disease spread in realistic urban dynamic contact networks. Using the data generated by this simulation, we introduce the notion of dynamic proximity networks which takes into account the relevant time-scales for disease spread: contact duration, infectivity period, and rate of contact creation. This approach promises to be a good candidate for a unified treatment of epidemic types that are driven by agent collision dynamics. In particular, using a simple model, we show that it can account for the observed qualitative differences between the degree distributions of contact graphs of diseases with short infectivity period (such as air-transmitted diseases) or long infectivity periods (such as HIV).

  2. Echosonography with proximity sensors

    NASA Astrophysics Data System (ADS)

    Thaisiam, W.; Laithong, T.; Meekhun, S.; Chaiwathyothin, N.; Thanlarp, P.; Danworaphong, S.

    2013-03-01

    We propose the use of a commercial ultrasonic proximity sensor kit for profiling an altitude-varying surface by employing echosonography. The proximity sensor kit, two identical transducers together with its dedicated operating circuit, is used as a profiler for the construction of an image. Ultrasonic pulses are emitted from one of the transducers and received by the other. The time duration between the pulses allows us to determine the traveling distance of each pulse. In the experiment, the circuit is used with the addition of two copper wires for directing the outgoing and incoming signals to an oscilloscope. The time of flight of ultrasonic pulses can thus be determined. Square grids of 5 × 5 cm2 are made from fishing lines, forming pixels in the image. The grids are designed to hold the detection unit in place, about 30 cm above a flat surface. The surface to be imaged is constructed to be height varying and placed on the flat surface underneath the grids. Our result shows that an image of the profiled surface can be created by varying the location of the detection unit along the grid. We also investigate the deviation in relation to the time of flight of the ultrasonic pulse. Such an experiment should be valuable for conveying the concept of ultrasonic imaging to physical and medical science undergraduate students. Due to its simplicity, the setup could be made in any undergraduate laboratory relatively inexpensively and it requires no complex parts. The results illustrate the concept of echosonography.

  3. Supraclavicular Brachial Plexus Block for Arteriovenous Hemodialysis Access Procedures.

    PubMed

    Hull, Jeffrey; Heath, Jean; Bishop, Wendy

    2016-05-01

    Ultrasound-guided supraclavicular brachial plexus block using 1% and 2% lidocaine in 21 procedures is reported. Average procedure time was 5.1 minutes (± 1.2 min; range, 2-8 min). Average time of onset and duration were 4.8 minutes (± 3.7 min; range, 0-10 min) and 77.9 minutes (± 26.7 min; range, 44-133 min), respectively, for sensory block and 8.4 minutes (± 5.7 min; range, 3-23 min) and 99 minutes (± 40.5 min; range, 45-171 min), respectively, for motor block. The pain scale assessment averaged 0.4 (± 1.1; range, 0-4). There were no complications. PMID:27106648

  4. Resting Doppler ankle brachial pressure index measurement: a literature review.

    PubMed

    Sihlangu, Dorcus; Bliss, Julie

    2012-07-01

    Peripheral vascular disease (PVD) is under-diagnosed in primary and acute settings. The use of Doppler ankle brachial pressure index (ABPI) is effective in diagnosing PVD , aid in determining aetiology of leg ulcers and is cost efficient in reducing the effects of atherosclerosis and cardiovascular events. The aim of this literature review was to review practitioners' experience in using Doppler ABPI, different skills used to measure ABPI and to examine practitioners' confidence in ABPI. The findings identified variation in method for Doppler measurement: including position of the artery, arm measurement, resting period and type of equipment for measuring blood pressure, variations in practitioners' training and experience have demonstrated variability in ABPI results. Although limited in number, the studies have demonstrated knowledge gap, and the need for training among health professionals. PMID:22875182

  5. Ankle brachial pressure index of normal, healthy, younger adults.

    PubMed

    Niblo, Jane; Coull, Alison

    Doppler ultrasound and ankle brachial pressure index (ABPI) calculations are used in the assessment of lower limb vascularity, specifically to determine arterial deficiency. ABPI is important as it is used as an indicator when deciding management options for the treatment of leg ulceration. This study aimed to investigate the range of ABPI measurement, using Doppler ultrasound and sphygmomanometry in 36 young healthy adults aged 18-55 years. The findings show a mean ABPI in the left leg of 1.19 and a mean ABPI of 1.17 in the right leg which, while within the normal range, are consistently in the upper range and significantly higher than the acknowledged 'normal' midpoint of 1.0. It would appear that younger people will have ABPIs within the upper aspect of the normal range and well above the established norm of 1.0. PMID:24151719

  6. Temporal pattern of pulse wave velocity during brachial hyperemia reactivity

    NASA Astrophysics Data System (ADS)

    Graf, S.; Valero, M. J.; Craiem, D.; Torrado, J.; Farro, I.; Zócalo, Y.; Valls, G.; Bía, D.; Armentano, R. L.

    2011-09-01

    Endothelial function can be assessed non-invasively with ultrasound, analyzing the change of brachial diameter in response to transient forearm ischemia. We propose a new technique based in the same principle, but analyzing a continuous recording of carotid-radial pulse wave velocity (PWV) instead of diameter. PWV was measured on 10 healthy subjects of 22±2 years before and after 5 minutes forearm occlusion. After 59 ± 31 seconds of cuff release PWV decreased 21 ± 9% compared to baseline, reestablishing the same after 533 ± 65 seconds. There were no significant changes observed in blood pressure. When repeating the study one hour later in 5 subjects, we obtained a coefficient of repeatability of 4.8%. In conclusion, through analysis of beat to beat carotid-radial PWV it was possible to characterize the temporal profiles and analyze the acute changes in response to a reactive hyperemia. The results show that the technique has a high sensitivity and repeatability.

  7. Brachial-Ankle Pulse Wave Velocity: Myths, Misconceptions, and Realities.

    PubMed

    Sugawara, Jun; Tanaka, Hirofumi

    2015-09-01

    A variety of techniques to evaluate central arterial stiffness have been developed and introduced. None of these techniques, however, have been implemented widely in regular clinical settings, except for brachial-ankle pulse wave velocity (baPWV). The most prominent procedural advantage of baPWV is its ease of use, since it only requires the wrapping of blood pressure cuffs on the 4 extremities. There is mounting evidence indicating the ability of baPWV to predict the risk of future cardiovascular events and total mortality. Additionally, the guidelines for the management of hypertension in Japan recommended the measurement of baPWV be included in the assessment of subclinical target organ damage. However, baPWV has not been fully accepted worldwide due to perceived theoretical and methodological issues. In this review, we address the most frequently mentioned questions and concerns regarding baPWV to shed some light on this simple and easy arterial stiffness measurement. PMID:26587459

  8. OCT/PS-OCT imaging of brachial plexus neurovascular structures

    NASA Astrophysics Data System (ADS)

    Raphael, David T.; Zhang, Jun; Zhang, Yaoping; Chen, Zhongping; Miller, Carol; Zhou, Li

    2004-07-01

    Introduction: Optical coherence tomography (OCT) allows high-resolution imaging (less than 10 microns) of tissue structures. A pilot study with OCT and polarization-sensitive OCT (PS-OCT) was undertaken to image ex-vivo neurovascular structures (vessels, nerves) of the canine brachial plexus. Methods: OCT is an interferometry-based optical analog of B-mode ultrasound, which can image through non-transparent biological tissues. With approval of the USC Animal Care and Use Committee, segments of the supra- and infraclavicular brachial plexus were excised from euthanized adult dogs, and the ex-vivo specimens were placed in cold pH-buffered physiologic solution. An OCT beam, in micrometer translational steps, scanned the fixed-position bisected specimens in transverse and longitudinal views. Two-dimensional images were obtained from identified arteries and nerves, with specific sections of interest stained with hematoxylin-eosin for later imaging through a surgical microscope. Results: with the beam scan direction transverse to arteries, the resulting OCT images showed an identifiable arterial lumen and arterial wall tissue layers. By comparison, transverse beam OCT images of nerves revealed a multitude of smaller nerve bundles contained within larger circular-shaped fascicles. PS-OCT imaging was helpful in showing the characteristic birefringence exhibited by arrayed neural structures. Discussion: High-resolution OCT imaging may be useful in the optical identification of neurovascular structures during attempted regional nerve blockade. If incorporated into a needle-shaped catheter endoscope, such a technology could prevent intraneural and intravascular injections immediately prior to local anesthetic injection. The major limitation of OCT is that it can form a coherent image of tissue structures only to a depth of 1.5 - 2 mm.

  9. Neonatal brachial plexus palsy: incidence, prevalence, and temporal trends.

    PubMed

    Chauhan, Suneet P; Blackwell, Sean B; Ananth, Cande V

    2014-06-01

    Epidemiological knowledge of the incidence, prevalence, and temporal changes of neonatal brachial plexuses palsy (NBPP) should assist the clinician, avert unnecessary interventions, and help formulate evidence-based health policies. A summary of 63 publications in the English language with over 17 million births and 24,000 NBPPs is notable for six things. First, the rate of NBPP in the US and other countries is comparable: 1.5 vs. 1.3 per 1000 total births, respectively. Second, the rate of NBPP may be decreasing: 0.9, 1.0 and 0.5 per 1,000 births for publications before 1990, 1990-2000, and after 2000, respectively. Third, the likelihood of not having concomitant shoulder dystocia with NBPP was 76% overall, though it varied by whether the publication was from the US (78%) vs. other countries (47%). Fourth, the likelihood of NBPP being permanent (lasting at least 12 months) was 10-18% in the US-based reports and 19-23% in other countries. Fifth, in studies from the US, the rate of permanent NBPP is 1.1-2.2 per 10,000 births and 2.9-3.7 per 10,000 births in other nations. Sixth, we estimate that approximately 5000 NBPPs occur every year in the US, of which over 580-1050 are permanent, and that since birth, 63,000 adults have been afflicted with persistent paresis of their brachial plexus. The exceedingly infrequent nature of permanent NBPP necessitates a multi-center study to improve our understanding of the antecedent factors and to abate the long-term sequela.

  10. Morphometric Atlas Selection for Automatic Brachial Plexus Segmentation

    SciTech Connect

    Van de Velde, Joris; Wouters, Johan; Vercauteren, Tom; De Gersem, Werner; Duprez, Fréderic; De Neve, Wilfried; Van Hoof, Tom

    2015-07-01

    Purpose: The purpose of this study was to determine the effects of atlas selection based on different morphometric parameters, on the accuracy of automatic brachial plexus (BP) segmentation for radiation therapy planning. The segmentation accuracy was measured by comparing all of the generated automatic segmentations with anatomically validated gold standard atlases developed using cadavers. Methods and Materials: Twelve cadaver computed tomography (CT) atlases (3 males, 9 females; mean age: 73 years) were included in the study. One atlas was selected to serve as a patient, and the other 11 atlases were registered separately onto this “patient” using deformable image registration. This procedure was repeated for every atlas as a patient. Next, the Dice and Jaccard similarity indices and inclusion index were calculated for every registered BP with the original gold standard BP. In parallel, differences in several morphometric parameters that may influence the BP segmentation accuracy were measured for the different atlases. Specific brachial plexus-related CT-visible bony points were used to define the morphometric parameters. Subsequently, correlations between the similarity indices and morphometric parameters were calculated. Results: A clear negative correlation between difference in protraction-retraction distance and the similarity indices was observed (mean Pearson correlation coefficient = −0.546). All of the other investigated Pearson correlation coefficients were weak. Conclusions: Differences in the shoulder protraction-retraction position between the atlas and the patient during planning CT influence the BP autosegmentation accuracy. A greater difference in the protraction-retraction distance between the atlas and the patient reduces the accuracy of the BP automatic segmentation result.

  11. Large cervicothoracic myxoinflammatory fibroblastic sarcoma with brachial plexus invasion: A case report and literature review

    PubMed Central

    Jia, Xiaotian; Yang, Jianyun; Chen, Lin; Yu, Cong

    2016-01-01

    Myxoinflammatory fibroblastic sarcoma is a rare sarcoma that develops in patients of all ages, which usually presents as a slow-growing painless mass in the distal extremities. To date, myxoinflammatory fibroblastic sarcoma with invasion of the brachial plexus has rarely been reported in the literature. In this study, a case of large cervicothoracic sarcoma, which invaded the brachial plexus, is presented. The patient reported no sensory disturbance or dyskinesia. The tumor was completely resected without injury of the brachial plexus. The postoperative histological diagnosis was myxoinflammatory fibroblastic sarcoma. Follow-up examination performed 24 months after surgery revealed no tumor recurrence and no sensory disturbance or dyskinesia was reported. This study presents a rare case of large myxoinflammatory fibroblastic sarcoma with brachial plexus invasion that was successfully managed by surgery. PMID:27588121

  12. Restoration and protection of brachial plexus injury: hot topics in the last decade

    PubMed Central

    Zhang, Kaizhi; Lv, Zheng; Liu, Jun; Zhu, He; Li, Rui

    2014-01-01

    Brachial plexus injury is frequently induced by injuries, accidents or birth trauma. Upper limb function may be partially or totally lost after injury, or left permanently disabled. With the development of various medical technologies, different types of interventions are used, but their effectiveness is wide ranging. Many repair methods have phasic characteristics, i.e., repairs are done in different phases. This study explored research progress and hot topic methods for protection after brachial plexus injury, by analyzing 1,797 articles concerning the repair of brachial plexus injuries, published between 2004 and 2013 and indexed by the Science Citation Index database. Results revealed that there are many methods used to repair brachial plexus injury, and their effects are varied. Intervention methods include nerve transfer surgery, electrical stimulation, cell transplantation, neurotrophic factor therapy and drug treatment. Therapeutic methods in this field change according to the hot topic of research. PMID:25374596

  13. Brachial Plexus Injury from CT-Guided RF Ablation Under General Anesthesia

    SciTech Connect

    Shankar, Sridhar Sonnenberg, Eric van; Silverman, Stuart G.; Tuncali, Kemal; Flanagan, Hugh L.; Whang, Edward E.

    2005-06-15

    Brachial plexus injury in a patient under general anesthesia (GA) is not uncommon, despite careful positioning and, particularly, awareness of the possibility. The mechanism of injury is stretching and compression of the brachial plexus over a prolonged period. Positioning the patient within the computed tomography (CT) gantry for abdominal or chest procedures can simulate a surgical procedure, particularly when GA is used. The potential for brachial plexus injury is increased if the case is prolonged and the patient's arms are raised above the head to avoid CT image degradation from streak artifacts. We report a case of profound brachial plexus palsy following a CT-guided radiofrequency ablation procedure under GA. Fortunately, the patient recovered completely. We emphasize the mechanism of injury and detail measures to combat this problem, such that radiologists are aware of this potentially serious complication.

  14. Contralateral Spinal Accessory Nerve Transfer: A New Technique in Panavulsive Brachial Plexus Palsy.

    PubMed

    Zermeño-Rivera, Jaime; Gutiérrez-Amavizca, Bianca Ethel

    2015-06-01

    Brachial plexus avulsion results from excessive stretching and can occur secondary to motor vehicle accidents, mainly in motorcyclists. In a 28-year-old man with panavulsive brachial plexus palsy, we describe an alternative technique to repair brachial plexus avulsion and to stabilize and preserve shoulder function by transferring the contralateral spinal accessory nerve to the suprascapular nerve. We observed positive clinical and electromyographic results in sternocleidomastoid, trapezius, supraspinatus, infraspinatus, pectoralis, triceps, and biceps, with good outcome and prognosis for shoulder function at 12 months after surgery. This technique provides a unique opportunity for patients suffering from severe brachial plexus injuries and lacking enough donor nerves to obtain shoulder stability and mobility while avoiding bone fusion and preserving functionality of the contralateral shoulder with favorable postoperative outcomes.

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

    PubMed

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

    2013-02-01

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

  16. Anthropometry of Arm: Nutritional Risk Indicator in Amyotrophic Lateral Sclerosis.

    PubMed

    Salvioni, Cristina Cleide Dos Santos; Stanich, Patricia; Oliveira, Acary Souza Bulle; Orsini, Marco

    2015-12-29

    The aim of the paper is to examine the correlation between clinical data, nutritional, respiratory and functional parameters in amyotrophic lateral sclerosis (ALS). This is a descriptive study of 111 ALS patients [91 spinal onset (GS) and 20 bulbar onset (GB)] carried on using nutritional and respiratory parameters and amyotrophic lateral sclerosis functional rating scale (ALSFRS). ALSFRS was analyzed in the main domains (D1, D2 and D3). Forced vital capacity and anthropometric measurements, there was significant association for GS and GB, and in GS there was positive correlation with midarm circumference (MAC) (r=0.30; P=0.020), midarm muscle circumference (r=0.29; P=0.026), arm muscle area (r=0.28; P=0.033) and protein-caloric malnutrition score (r=0.27; P=0.039), while for GB only with body weight (r=0.64; P=0.024). On correlation of nutritional parameters and ALSFRS for GS patients we observed that MAC and %MAC presented positive association with both issues of D1 and D2. For GB, the total score in addition to correlate positively with anthropometric parameters related to lean body mass also presented negative association with a parameter associated with body fat. In summary, it is suggested that the application of anthropometry of arm could be useful in routine monitoring of ALS patients.

  17. Anthropometry of Arm: Nutritional Risk Indicator in Amyotrophic Lateral Sclerosis

    PubMed Central

    Stanich, Patricia; Oliveira, Acary Souza Bulle; Orsini, Marco

    2015-01-01

    The aim of the paper is to examine the correlation between clinical data, nutritional, respiratory and functional parameters in amyotrophic lateral sclerosis (ALS). This is a descriptive study of 111 ALS patients [91 spinal onset (GS) and 20 bulbar onset (GB)] carried on using nutritional and respiratory parameters and amyotrophic lateral sclerosis functional rating scale (ALSFRS). ALSFRS was analyzed in the main domains (D1, D2 and D3). Forced vital capacity and anthropometric measurements, there was significant association for GS and GB, and in GS there was positive correlation with midarm circumference (MAC) (r=0.30; P=0.020), midarm muscle circumference (r=0.29; P=0.026), arm muscle area (r=0.28; P=0.033) and protein-caloric malnutrition score (r=0.27; P=0.039), while for GB only with body weight (r=0.64; P=0.024). On correlation of nutritional parameters and ALSFRS for GS patients we observed that MAC and %MAC presented positive association with both issues of D1 and D2. For GB, the total score in addition to correlate positively with anthropometric parameters related to lean body mass also presented negative association with a parameter associated with body fat. In summary, it is suggested that the application of anthropometry of arm could be useful in routine monitoring of ALS patients. PMID:26788263

  18. Anthropometry of Arm: Nutritional Risk Indicator in Amyotrophic Lateral Sclerosis.

    PubMed

    Salvioni, Cristina Cleide Dos Santos; Stanich, Patricia; Oliveira, Acary Souza Bulle; Orsini, Marco

    2015-12-29

    The aim of the paper is to examine the correlation between clinical data, nutritional, respiratory and functional parameters in amyotrophic lateral sclerosis (ALS). This is a descriptive study of 111 ALS patients [91 spinal onset (GS) and 20 bulbar onset (GB)] carried on using nutritional and respiratory parameters and amyotrophic lateral sclerosis functional rating scale (ALSFRS). ALSFRS was analyzed in the main domains (D1, D2 and D3). Forced vital capacity and anthropometric measurements, there was significant association for GS and GB, and in GS there was positive correlation with midarm circumference (MAC) (r=0.30; P=0.020), midarm muscle circumference (r=0.29; P=0.026), arm muscle area (r=0.28; P=0.033) and protein-caloric malnutrition score (r=0.27; P=0.039), while for GB only with body weight (r=0.64; P=0.024). On correlation of nutritional parameters and ALSFRS for GS patients we observed that MAC and %MAC presented positive association with both issues of D1 and D2. For GB, the total score in addition to correlate positively with anthropometric parameters related to lean body mass also presented negative association with a parameter associated with body fat. In summary, it is suggested that the application of anthropometry of arm could be useful in routine monitoring of ALS patients. PMID:26788263

  19. Case-control study of amyotrophic lateral sclerosis

    SciTech Connect

    Deapen, D.M.; Henderson, B.E.

    1986-05-01

    The authors conducted a study of 518 amyotrophic lateral sclerosis patients identified between 1977 and 1979 and 518 controls to investigate putative risk factors for this disease. Occupations at risk of electrical exposure were reported more often by patients (odds ratio (OR) = 3.8, 95% confidence interval (CI) = 1.4-13.0) as were electrical shocks producing unconsciousness (OR = 2.8, 95% CI = 1.0-9.9). Although an overall excess of physical trauma associated with unconsciousness was observed in the amyotrophic lateral sclerosis patients (OR = 1.6, 95% CI = 1.0-2.4), the effect was inversely associated with duration of the unconscious episodes, suggesting an effect of recall bias. Only slight differences were found for surgical traumata to the nervous system. Parkinsonism was reported more often among first degree relatives of cases (OR = 2.7, 95% CI = 1.1-7.6). The frequencies of prior poliomyelitis or other central nervous system diseases were similar for patients and controls. Occupational exposure to selected toxic substances was similar for patients and controls except for the manufacture of plastics (OR = 3.7, 95% CI = 1.0-20.5), although few details of these exposures were provided. No differences in occupations with exposure to animal skins or hides were observed.

  20. Endoplasmic reticulum stress and proteasomal system in amyotrophic lateral sclerosis.

    PubMed

    Karademir, Betul; Corek, Ceyda; Ozer, Nesrin Kartal

    2015-11-01

    Protein processing including folding, unfolding and degradation is involved in the mechanisms of many diseases. Unfolded protein response and/or endoplasmic reticulum stress are accepted to be the first steps which should be completed via protein degradation. In this direction, proteasomal system and autophagy play important role as the degradation pathways and controlled via complex mechanisms. Amyotrophic lateral sclerosis is a multifactorial neurodegenerative disease which is also known as the most catastrophic one. Mutation of many different genes are involved in the pathogenesis such as superoxide dismutase 1, chromosome 9 open reading frame 72 and ubiquilin 2. These genes are mainly related to the antioxidant defense systems, endoplasmic reticulum stress related proteins and also protein aggregation, degradation pathways and therefore mutation of these genes cause related disorders.This review focused on the role of protein processing via endoplasmic reticulum and proteasomal system in amyotrophic lateral sclerosis which are the main players in the pathology. In this direction, dysfunction of endoplasmic reticulum associated degradation and related cell death mechanisms that are autophagy/apoptosis have been detailed.

  1. Nerve Transfers in Birth Related Brachial Plexus Injuries: Where Do We Stand?

    PubMed

    Davidge, Kristen M; Clarke, Howard M; Borschel, Gregory H

    2016-05-01

    This article reviews the assessment and management of obstetrical brachial plexus palsy. The potential role of distal nerve transfers in the treatment of infants with Erb's palsy is discussed. Current evidence for motor outcomes after traditional reconstruction via interpositional nerve grafting and extraplexal nerve transfers is reviewed and compared with the recent literature on intraplexal distal nerve transfers in obstetrical brachial plexus injury. PMID:27094890

  2. Association of hemoglobin with ankle-brachial index in general population

    PubMed Central

    Chenglong, Zhang; Jing, Lei; Xia, Ke; Yang, Tianlun

    2016-01-01

    OBJECTIVES: Previous studies have demonstrated that both low and high hemoglobin concentrations are predictive of adverse cardiovascular outcomes in various populations. However, an association of hemoglobin with the ankle-brachial index, which is widely used as a screening test for peripheral arterial disease, has not yet been identified. METHODS: We examined 786 subjects (236 women and 550 men) who received routine physical check-ups. The ankle-brachial index and several hematological parameters, including the hemoglobin level, hematocrit and red blood cell count and other demographic and biochemical characteristics were collected. Univariate and multivariate linear regression analyses were performed to assess the relationships between the ankle-brachial index and the independent determinants. Receiver operating characteristic curve analysis was conducted to calculate the cut-off level of hemoglobin for a relatively low ankle-brachial index (less than 20% of all subjects, which was 1.02). RESULTS: The hemoglobin level, hematocrit and red blood cell count were correlated with the ankle-brachial index in the males (r=-0.274, r=-0.224 and r=-0.273, respectively, p<0.001 for all), but these associations were not significant in the females. Multivariate linear regression analysis revealed that the independent determinants of the ankle-brachial index included age, total cholesterol, high-density lipoprotein cholesterol and the white blood cell count for the females and age, hypertension, total cholesterol and hemoglobin (β=-0.001, p<0.001) for the males after adjusting for confounding factors. Receiver operating characteristic curve analysis revealed that the cut-off level of hemoglobin for predicting a low ankle-brachial index was 156.5 g/L in the males. CONCLUSIONS: A high hemoglobin concentration was independently correlated with a low ankle-brachial index in the healthy males, indicating that an elevation in this level may be associated with an increased

  3. Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

    PubMed

    Saccon, Rachele A; Bunton-Stasyshyn, Rosie K A; Fisher, Elizabeth M C; Fratta, Pietro

    2013-08-01

    Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations were identified they were postulated to give rise to amyotrophic lateral sclerosis through a loss of function mechanism, but experimental data soon showed that the disease arises from a--still unknown--toxic gain of function, and the possibility that loss of function plays a role in amyotrophic lateral sclerosis pathogenesis was abandoned. Although loss of function is not causative for amyotrophic lateral sclerosis, here we re-examine two decades of evidence regarding whether loss of function may play a modifying role in SOD1-amyotrophic lateral sclerosis. From analysing published data from patients with SOD1-amyotrophic lateral sclerosis, we find a marked loss of SOD1 enzyme activity arising from almost all mutations. We continue to examine functional data from all Sod1 knockout mice and we find obvious detrimental effects within the nervous system with, interestingly, some specificity for the motor system. Here, we bring together historical and recent experimental findings to conclude that there is a possibility that SOD1 loss of function may play a modifying role in amyotrophic lateral sclerosis. This likelihood has implications for some current therapies aimed at knocking down the level of mutant protein in patients with SOD1-amyotrophic lateral sclerosis. Finally, the wide-ranging phenotypes that result from loss of function indicate that SOD1 gene sequences should be screened in diseases other than amyotrophic lateral sclerosis.

  4. Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity.

    PubMed

    Dentel, Christel; Palamiuc, Lavinia; Henriques, Alexandre; Lannes, Béatrice; Spreux-Varoquaux, Odile; Gutknecht, Lise; René, Frédérique; Echaniz-Laguna, Andoni; Gonzalez de Aguilar, Jose-Luis; Lesch, Klaus Peter; Meininger, Vincent; Loeffler, Jean-Philippe; Dupuis, Luc

    2013-02-01

    Spasticity is a common and disabling symptom observed in patients with central nervous system diseases, including amyotrophic lateral sclerosis, a disease affecting both upper and lower motor neurons. In amyotrophic lateral sclerosis, spasticity is traditionally thought to be the result of degeneration of the upper motor neurons in the cerebral cortex, although degeneration of other neuronal types, in particular serotonergic neurons, might also represent a cause of spasticity. We performed a pathology study in seven patients with amyotrophic lateral sclerosis and six control subjects and observed that central serotonergic neurons suffer from a degenerative process with prominent neuritic degeneration, and sometimes loss of cell bodies in patients with amyotrophic lateral sclerosis. Moreover, distal serotonergic projections to spinal cord motor neurons and hippocampus systematically degenerated in patients with amyotrophic lateral sclerosis. In SOD1 (G86R) mice, a transgenic model of amyotrophic lateral sclerosis, serotonin levels were decreased in brainstem and spinal cord before onset of motor symptoms. Furthermore, there was noticeable atrophy of serotonin neuronal cell bodies along with neuritic degeneration at disease onset. We hypothesized that degeneration of serotonergic neurons could underlie spasticity in amyotrophic lateral sclerosis and investigated this hypothesis in vivo using tail muscle spastic-like contractions in response to mechanical stimulation as a measure of spasticity. In SOD1 (G86R) mice, tail muscle spastic-like contractions were observed at end-stage. Importantly, they were abolished by 5-hydroxytryptamine-2b/c receptors inverse agonists. In line with this, 5-hydroxytryptamine-2b receptor expression was strongly increased at disease onset. In all, we show that serotonergic neurons degenerate during amyotrophic lateral sclerosis, and that this might underlie spasticity in mice. Further research is needed to determine whether inverse

  5. Some Properties of Fuzzy Soft Proximity Spaces

    PubMed Central

    Demir, İzzettin; Özbakır, Oya Bedre

    2015-01-01

    We study the fuzzy soft proximity spaces in Katsaras's sense. First, we show how a fuzzy soft topology is derived from a fuzzy soft proximity. Also, we define the notion of fuzzy soft δ-neighborhood in the fuzzy soft proximity space which offers an alternative approach to the study of fuzzy soft proximity spaces. Later, we obtain the initial fuzzy soft proximity determined by a family of fuzzy soft proximities. Finally, we investigate relationship between fuzzy soft proximities and proximities. PMID:25793224

  6. Arteriovenous graft with outflow in the proximal axillary vein.

    PubMed

    Teruya, Theodore H; Schaeffer, David; Abou-Zamzam, Ahmed M; Bianchi, Christian

    2009-01-01

    Arteriovenous access can result in complications including extremity ischemia and swelling. Use of the nondominant upper extremity is preferred because complications will result in less severe disability. The distal axillary vein in the axilla is usually considered to be the end point for arteriovenous access in the upper extremity. Vascular surgeons are familiar with exposure of the proximal axillary artery via an infraclavicular incision. The axillary vein is also easily exposed through this technique. Use of this vein for arteriovenous graft outflow can preserve the dominant arm for future use. Nine patients with arteriovenous grafts with venous outflow in the proximal arm for future use. All patients had exposure to the proximal axillary vein via an infraclavicular incision. There were six women and three men. All patients had multiple failed access in the ipsilateral extremity. One patient had a loop configuration graft, while the six others had a straight graft with arterial inflow via the brachial artery. One patient had a bovine mesenteric vein graft, while the remaining six had expanded polytetrafluoroethylene grafts. Six of the seven patients had ambulatory surgery, while one patient was admitted postoperatively with mental status changes. Patency rates were 78%, with mean follow-up of 16 months. One patient had early failure due to steal and one patient failed at 22 months. Six of seven patients are alive at current follow-up. Three patients required secondary procedures including venous angioplasty (n=2) and subclavian artery stenting (n=1). The infraclavicular axillary vein can be used as an effective outflow for arteriovenous grafts. This procedure can be done as an outpatient surgery with a low complication rate. This procedure can preserve the dominant arm for future access and provides a possible alternative to surgery on another extremity.

  7. Analysis of the neurofilament heavy subunit (NFH) gene in familial amyotrophic lateral sclerosis

    SciTech Connect

    Rooke, K.; Rouleau, G.A.; Figlewicz, D.A.

    1994-09-01

    Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset, degenerative disorder of the motor neurons in the cortex, brainstem and spinal cord. Approximately 10% of ALS cases are familial (FALS) and are inherited as an age-dependent autosomal dominant trait. Mutations in the Cu/Zn superoxide dismutase (SOD-1) gene on chromosome 21 have been found in a subset of cases. However, for the remaining FALS cases, the etiology is unknown. The abnormal accumulation of neurofilaments in the cell body and proximal axon of motor neurons is a characteristic pathological finding in ALS. Furthermore, aberrant neuronal swellings that closely resemble those found in ALS have been reported in transgenic mice overexpressing NFH. The C-terminal region of NFH contains a unique functional domain with multiple repeats of the amino acids (Lys-Ser-Pro) (KSP) and forms the side-arms which appear, at the level of electron microscopy, to cross-link neurofilaments. Recently, deletions in the DSP repeat domain have been identified in five ALS patients diagnosed as sporadic cases of the disease. Based on these findings, we propose to analyze all 4 exons of the NFH gene for variation in FALS. DNA from 110 FALS cases has been amplified by the polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP) analysis. Exon 2, exon 3 and the KSP repeat domain (part of exon 4) appear normal in all our FALS individuals under several different SSCP conditions. The analysis of exon 1 and the remainder of exon 4 has yet to be completed.

  8. The use of the phrenic nerve communicating branch to the fifth cervical root for nerve transfer to the suprascapular nerve in infants with obstetric brachial plexus palsy.

    PubMed

    Al-Qattan, M M; El-Sayed, A A F

    2014-01-01

    Traditionally, suprascapular nerve reconstruction in obstetric brachial plexus palsy is done using either the proximal C5 root stump or the spinal accessory nerve. This paper introduces another potential donor nerve for neurotizing the suprascapular nerve: the phrenic nerve communicating branch to the C5 root. The prevalence of this communicating branch ranges from 23% to 62% in various anatomical dissections. Over the last two decades, the phrenic communicating branch was used to reconstruct the suprascapular nerve in 15 infants. Another 15 infants in whom the accessory nerve was used to reconstruct the suprascapular nerve were selected to match the former 15 cases with regard to age at the time of surgery, type of palsy, and number of avulsed roots. The results showed that there is no significant difference between the two groups with regard to recovery of external rotation of the shoulder. It was concluded that the phrenic nerve communicating branch may be considered as another option to neurotize the suprascapular nerve.

  9. Brachial Plexus Block for Cancer-Related Pain: A Case Series.

    PubMed

    Zinboonyahgoon, Nantthasorn; Vlassakov, Kamen; Abrecht, Christ R; Srinivasan, Suresh; Narang, Sanjeet

    2015-01-01

    Neoplastic brachial plexopathy (NBP) is caused by a cancerous infiltration into the brachial plexus, presenting often as severe pain in the affected upper extremity. Such pain can be resistant to medical treatment. Invasive interventions such as brachial plexus neurolysis with phenol or cordotomy may result in severe complications including permanent neurological damage and death. Continuous brachial plexus and paravertebral block with local anesthetic have been reported to successfully control pain from NBP, but these techniques are logistically challenging and frequently have catheter-related complications. We report a series of patients who received single-shot brachial plexus blocks with a mixture of local anesthetic and corticosteroid (bupivacaine 0.25% with methyl-prednisolone 20-120 mg) for the treatment of refractory cancer-related pain in the brachial plexus territory, mostly from NBP. Theoretically, such blocks could provide immediate analgesia from the local anesthetic and a longer-lasting analgesia from the slow-release steroids. Responders reported a sustained decrease in their pain (lasting from 2 weeks to 10 months), a significant decrease in their opioid and non-opioid (ketamine, gabapentin) consumption, overall satisfaction with the block, and unchanged or improved function of their limb. The ideal candidate for this procedure is a patient who has pain that is predominantly neuropathic from a lesion within the brachial plexus and with anatomy amenable to ultrasound-guided nerve block. Our case series suggests that, in the appropriately selected patient, this technique can safely and effectively alleviate pain from NBP. The procedure is simple, spares limb function, and can be diagnostic, predicting response to more complex procedures. To the best of our knowledge, this is the first report using this technique for NBP.

  10. Postfixed Brachial Plexus Radiculopathy Due to Thoracic Disc Herniation in a Collegiate Wrestler: A Case Report

    PubMed Central

    Kuzma, Scott A.; Doberstein, Scott T.; Rushlow, David R.

    2013-01-01

    Objective: To present the unique case of a collegiate wrestler with C7 neurologic symptoms due to T1–T2 disc herniation. Background: A 23-year-old male collegiate wrestler injured his neck in a wrestling tournament match and experienced pain, weakness, and numbness in his left upper extremity. He completed that match and 1 additional match that day with mild symptoms. Evaluation by a certified athletic trainer 6 days postinjury showed radiculopathy in the C7 distribution of his left upper extremity. He was evaluated further by the team physician, a primary care physician, and a neurosurgeon. Differential Diagnosis: Cervical spine injury, stinger/burner, peripheral nerve injury, spinal cord injury, thoracic outlet syndrome, brachial plexus radiculopathy. Treatment: The patient initially underwent nonoperative management with ice, heat, massage, electrical stimulation, shortwave diathermy, and nonsteroidal anti-inflammatory drugs without symptom resolution. Cervical spine radiographs were negative for bony pathologic conditions. Magnetic resonance imaging showed evidence of T1–T2 disc herniation. The patient underwent surgery to resolve the symptoms and enable him to participate for the remainder of the wrestling season. Uniqueness: Whereas brachial plexus radiculopathy commonly is seen in collision sports, a postfixed brachial plexus in which the T2 nerve root has substantial contribution to the innervation of the upper extremity is a rare anatomic variation with which many health care providers are unfamiliar. Conclusions: The injury sustained by the wrestler appeared to be C7 radiculopathy due to a brachial plexus traction injury. However, it ultimately was diagnosed as radiculopathy due to a T1–T2 thoracic intervertebral disc herniation causing impingement of a postfixed brachial plexus and required surgical intervention. Athletic trainers and physicians need to be aware of the anatomic variations of the brachial plexus when evaluating and caring for

  11. Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

    PubMed

    Ghezzi, Serena; Del Bo, Roberto; Scarlato, Marina; Nardini, Martina; Carlesi, Cecilia; Prelle, Alessandro; Corti, Stefania; Mancuso, Michelangelo; Briani, Chiara; Siciliano, Gabriele; Murri, Luigi; Bresolin, Nereo; Comi, Giacomo Pietro

    2009-05-01

    To investigate the role of erythropoietin (EPO) as genetic determinant in the susceptibility to sporadic amyotrophic lateral sclerosis (SALS). We sequenced a 259-bp region spanning the 3'hypoxia-responsive element of the EPO gene in 222 Italian SALS patients and 204 healthy subjects, matched for age and ethnic origin. No potentially causative variation was detected in SALS subjects; in addition, two polymorphic variants (namely C3434T and G3544T) showed the same genotype and haplotype frequencies in patients and controls. Conversely, a weak but significant association between G3544T and age of disease onset was observed (p=0.04). Overall, our data argue against the hypothesis of EPO as a genetic risk factor for motor neuron dysfunction, at least in Italian population. However, further studies on larger cohort of patients are needed to confirm the evidence of EPO gene as modifier factor. PMID:17888545

  12. Strategies for clinical approach to neurodegeneration in Amyotrophic lateral sclerosis.

    PubMed

    Carlesi, Cecilia; Pasquali, Livia; Piazza, Selina; Lo Gerfo, Annalisa; Caldarazzo Ienco, Elena; Alessi, Rosaria; Fornai, Francesco; Siciliano, Gabriele

    2011-03-01

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and ultimately fatal neurodegenerative disorder of unknown aetiology that involves the loss of upper and lower motor neurons in the cerebral cortex, brainstem and spinal cord. Significant progress in understanding the cellular mechanisms of motor neuron degeneration in ALS has not been matched with the development of therapeutic strategies to prevent disease progression, and riluzole remains the only available therapy, with only marginal effects on disease survival. More recently alterations of mRNA processing in genetically defined forms of ALS, as those related to TDP-43 and FUS-TLS gene mutations have provided important insights into the molecular networks implicated in the disease pathogenesis. Here we review some of the recent progress in promoting therapeutic strategies for neurodegeneration. PMID:21412722

  13. Projected increase in amyotrophic lateral sclerosis from 2015 to 2040

    PubMed Central

    Arthur, Karissa C.; Calvo, Andrea; Price, T. Ryan; Geiger, Joshua T.; Chiò, Adriano; Traynor, Bryan J.

    2016-01-01

    Although amyotrophic lateral sclerosis (ALS) is relatively rare, the socioeconomic significance of the disease is extensive. It is therefore vital to project the epidemiologic trend of ALS. To date, there have been few published studies attempting to estimate the number and distribution of ALS cases in the upcoming years. Here we show that the number of ALS cases across the globe will increase from 222,801 in 2015 to 376,674 in 2040, representing an increase of 69%. This increase is predominantly due to ageing of the population, particularly among developing nations. This projection is likely an underestimate due to improving healthcare and economic conditions. The results should be used to inform healthcare policy to more efficiently allocate healthcare resources. PMID:27510634

  14. Age, gender, kinship and caregiver burden in amyotrophic lateral sclerosis.

    PubMed

    Tramonti, Francesco; Bongioanni, Paolo; Leotta, Rebecca; Puppi, Irene; Rossi, Bruno

    2015-01-01

    Amyotrophic lateral sclerosis is a neurodegenerative disease that affects the motor neurons and causes progressive physical impairment. Also, other functions, such as breathing, swallowing and speech are compromised, and the loss of independence makes caregiver burden extremely high. The present study aimed at evaluating the differences in the caregiver burden due to age, gender and kinship. Women reported a higher physical and social burden than men, and partners scored higher in several dimensions of the caregiver burden when compared to sons and daughters. With respect to adult child caregivers, daughters reported higher levels of developmental burden than sons. Age has a significant impact on the caregiver burden, especially for the time dedicated to assistance and physical burden; disease severity is significantly related to the physical burden as well, and also with the developmental burden. PMID:24588639

  15. Amyotrophic Lateral Sclerosis: A Focus on Disease Progression

    PubMed Central

    Calvo, Ana C.; Manzano, Raquel; Mendonça, Deise M. F.; Muñoz, María J.; Zaragoza, Pilar

    2014-01-01

    Since amyotrophic lateral sclerosis (ALS) was discovered and described in 1869 as a neurodegenerative disease in which motor neuron death is induced, a wide range of biomarkers have been selected to identify therapeutic targets. ALS shares altered molecular pathways with other neurodegenerative diseases, such as Alzheimer's, Huntington's, and Parkinson's diseases. However, the molecular targets that directly influence its aggressive nature remain unknown. What is the first link in the neurodegenerative chain of ALS that makes this disease so peculiar? In this review, we will discuss the progression of the disease from the viewpoint of the potential biomarkers described to date in human and animal model samples. Finally, we will consider potential therapeutic strategies for ALS treatment and future, innovative perspectives. PMID:25157374

  16. Amyotrophic Lateral Sclerosis and Metabolomics: Clinical Implication and Therapeutic Approach

    PubMed Central

    Kumar, Alok; Ghosh, Devlina; Singh, R. L.

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is one of the most common motor neurodegenerative disorders, primarily affecting upper and lower motor neurons in the brain, brainstem, and spinal cord, resulting in paralysis due to muscle weakness and atrophy. The majority of patients die within 3–5 years of symptom onset as a consequence of respiratory failure. Due to relatively fast progression of the disease, early diagnosis is essential. Metabolomics offer a unique opportunity to understand the spatiotemporal metabolic crosstalks through the assessment of body fluids and tissue. So far, one of the most challenging issues related to ALS is to understand the variation of metabolites in body fluids and CNS with the progression of disease. In this paper we will review the changes in metabolic profile in response to disease progression condition and also see the therapeutic implication of various drugs in ALS patients. PMID:26317018

  17. Comprehensive care of amyotrophic lateral sclerosis patients: a care model.

    PubMed

    Güell, Maria Rosa; Antón, Antonio; Rojas-García, Ricardo; Puy, Carmen; Pradas, Jesus

    2013-12-01

    Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that presents with muscle weakness, causing progressive difficulty in movement, communication, eating and ultimately, breathing, creating a growing dependence on family members and other carers. The ideal way to address the problems associated with the disease, and the decisions that must be taken, is through multidisciplinary teams. The key objectives of these teams are to optimise medical care, facilitate communication between team members, and thus to improve the quality of care. In our centre, we have extensive experience in the care of patients with ALS through an interdisciplinary team whose aim is to ensure proper patient care from the hospital to the home setting. In this article, we describe the components of the team, their roles and our way of working.

  18. Amyotrophic lateral sclerosis: increased solubility of skin collagen

    NASA Technical Reports Server (NTRS)

    Ono, S.; Yamauchi, M.

    1992-01-01

    We studied the solubility of skin collagen from six patients with amyotrophic lateral sclerosis (ALS) and six controls. The amount of collagen extracted with neutral salt solution was significantly greater in patients with ALS than in controls. In addition, there was a statistically significant increase in the proportion of collagen extracted from ALS patients with increased duration of illness. The collagen solubilized by pepsin and cyanogen bromide treatments was significantly higher in ALS patients than in controls, and its proportion was positively and significantly associated with duration of illness in ALS patients. These results indicate that the metabolism of skin collagen may be affected in the disease process of ALS, causing an increase in immature soluble collagen in the tissue, which is the opposite to that which occurs in the normal aging process.

  19. Amyotrophic Lateral Sclerosis with an Acute Hypertensive Crises

    PubMed Central

    Lee, Ha Lim

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder involving the systemic motor neurons, but autonomic nervous function is relatively well preserved. A few studies related to autonomic dysfunction have been reported, but autonomic dysfunction is rare in ALS. Moreover, dysautonomia symptoms are not prominent in patients with ALS. We present a 55-year-old male patient with ALS, who had acute severe hypertension and tachycardia crises, as well as sudden falls in his blood pressure. After he was diagnosed with ALS, he suddenly collapsed and was placed under mechanical ventilation. Several hypertensive attacks and dysautonomic signs then occurred. We successfully controlled the dysautonomia using diazepam and doxazocin mesylate, an alpha receptor antagonist. PMID:22837981

  20. Survey of cannabis use in patients with amyotrophic lateral sclerosis.

    PubMed

    Amtmann, Dagmar; Weydt, Patrick; Johnson, Kurt L; Jensen, Mark P; Carter, Gregory T

    2004-01-01

    Cannabis (marijuana) has been proposed as treatment for a widening spectrum of medical conditions and has many properties that may be applicable to the management of amyotrophic lateral sclerosis (ALS). This study is the first, anonymous survey of persons with ALS regarding the use of cannabis. There were 131 respondents, 13 of whom reported using cannabis in the last 12 months. Although the small number of people with ALS that reported using cannabis limits the interpretation of the survey findings, the results indicate that cannabis may be moderately effective at reducing symptoms of appetite loss, depression, pain, spasticity, and drooling. Cannabis was reported ineffective in reducing difficulties with speech and swallowing, and sexual dysfunction. The longest relief was reported for depression (approximately two to three hours). PMID:15055508

  1. Current Therapy of Drugs in Amyotrophic Lateral Sclerosis

    PubMed Central

    Lu, Haiyan; Le, Wei Dong; Xie, Ya-Ying; Wang, Xiao-Ping

    2016-01-01

    Amyotrophic lateral sclerosis (ALS), commonly termed as motor neuron disease (MND) in UK, is a chronically lethal disorder among the neurodegenerative diseases, meanwhile. ALS is basically irreversible and progressive deterioration of upper and lower motor neurons in the motor cortex, brain stem and medulla spinalis. Riluzole, used for the treatment of ALS, was demonstrated to slightly delay the initiation of respiratory dysfunction and extend the median survival of patients by a few months. In this study, the key biochemical defects were discussed, such as: mutant Cu/Zn superoxide dismutase, mitochondrial protectants, and anti-excitotoxic/ anti-oxidative / anti-inflammatory/ anti-apoptotic agents, so the related drug candidates that have been studied in ALS models would possibly be further used in ALS patients. PMID:26786249

  2. REHABILITATION IN AMYOTROPHIC LATERAL SCLEROSIS: WHY IT MATTERS

    PubMed Central

    MAJMUDAR, SALONY; WU, JASON; PAGANONI, SABRINA

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results in a constellation of problematic symptoms and a high patient and caregiver burden. Multidisciplinary care includes rehabilitation interventions that have the goal of assisting people to teach their fullest potential despite the presence of a disabling disease. Given the progressive nature of ALS, the clinician must be aware of the expected disease trajectory and apply appropriate interventions at each stage. This review will present rehabilitation strategies that can be utilized to maximize patient independence, function, safety, and quality of life, and to minimize disease-related symptoms. The role of bracing, exercise, assistive devices, and adaptive equipment will be discussed. At each disease stage, an experienced rehabilitation team is well positioned to make a significant impact on the life of ALS patients. PMID:24510737

  3. Transcranial magnetic stimulation in amyotrophic and primary lateral sclerosis.

    PubMed

    Cruz Martínez, A; Trejo, J M

    1999-01-01

    Conduction of the central motor pathways after transcranial magnetic stimulation (TMS) was investigated in 7 patients with amyotrophic lateral sclerosis (ALS) and 1 case with primary lateral sclerosis (PLS). Threshold intensity, central motor conduction time (CMCT) and amplitude of the motor evoked potentials (MEPs) were evaluated. Threshold was abnormal in 85% of tested limbs, and CMCT prolonged and amplitude of the MEPs attenuated in 28.5% of patients with ALS. Abnormal CMCT was asymmetric and related to clinical score. MEPs were absent in lower limbs in PLS, with prolonged or attenuated amplitude of the MEPs in upper limbs. EMG showed widespread signs of lower motor neuron involvement in ALS, but not in PLS. Cranial MRI showed frontoparietal cortical atrophy, more marked in pre-central gyrus, and SPECT there was lower tracer uptake in the perirolandic area in the PLS patient. EMG examination, TMS, cranial MRI and SPECT can help in the diagnosis of PLS.

  4. Valosin-containing protein mutations in sporadic amyotrophic lateral sclerosis

    PubMed Central

    Abramzon, Yevgeniya; Johnson, Janel O.; Scholz, Sonja W.; Taylor, J. Paul; Brunetti, Maura; Calvo, Andrea; Mandrioli, Jessica; Benatar, Michael; Mora, Gabriele; Restagno, Gabriella; Chiò, Adriano; Traynor, Bryan J.

    2012-01-01

    We recently reported that mutations in the VCP gene are a cause of 1–2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of VCP in 701 sporadic ALS cases. Three pathogenic variants (p.Arg159Cys, p.Asn387Thr, and p.R662C) were found in three US cases, each of whom presented with progressive upper and lower motor neuron signs consistent with definite ALS by El Escorial diagnostic criteria. Our data indicate that VCP mutations may underlie apparently sporadic ALS, but account for less than 1% of this form of disease. PMID:22572540

  5. Comprehensive care of amyotrophic lateral sclerosis patients: a care model.

    PubMed

    Güell, Maria Rosa; Antón, Antonio; Rojas-García, Ricardo; Puy, Carmen; Pradas, Jesus

    2013-12-01

    Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that presents with muscle weakness, causing progressive difficulty in movement, communication, eating and ultimately, breathing, creating a growing dependence on family members and other carers. The ideal way to address the problems associated with the disease, and the decisions that must be taken, is through multidisciplinary teams. The key objectives of these teams are to optimise medical care, facilitate communication between team members, and thus to improve the quality of care. In our centre, we have extensive experience in the care of patients with ALS through an interdisciplinary team whose aim is to ensure proper patient care from the hospital to the home setting. In this article, we describe the components of the team, their roles and our way of working. PMID:23540596

  6. Progressive hemiparesis (Mills syndrome) with aphasia in amyotrophic lateral sclerosis.

    PubMed

    Bäumer, Dirk; Butterworth, Richard; Menke, Ricarda A L; Talbot, Kevin; Hofer, Monika; Turner, Martin R

    2014-02-01

    The onset of motor symptoms in amyotrophic lateral sclerosis (ALS) is strikingly focal. In three-quarters of cases, weakness emerges unilaterally in one limb, typically spreading contiguously over months to become bilateral.(1) An extremely rare clinical syndrome of upper motor neuron-predominant, progressive hemiparesis was first described by American neurologist Charles Karsner Mills (1845-1930).(2) More typical ALS shares a common histopathologic signature with frontotemporal dementia (FTD), consisting of ubiquitinated neuronal and glial inclusions containing the DNA and RNA binding protein, TDP-43. Cognitive impairment may be detected in at least one-third of ALS cases and involves mainly deficits in language, executive function, and fluency, with variable levels of behavioral impairments that all have overlap with the purer FTD syndromes. Frank FTD is seen in up to 15% of patients with ALS, in whom it typically occurs before or soon after the development of motor symptoms, and is associated with a more rapid disease progression.(3.)

  7. Projected increase in amyotrophic lateral sclerosis from 2015 to 2040.

    PubMed

    Arthur, Karissa C; Calvo, Andrea; Price, T Ryan; Geiger, Joshua T; Chiò, Adriano; Traynor, Bryan J

    2016-01-01

    Although amyotrophic lateral sclerosis (ALS) is relatively rare, the socioeconomic significance of the disease is extensive. It is therefore vital to project the epidemiologic trend of ALS. To date, there have been few published studies attempting to estimate the number and distribution of ALS cases in the upcoming years. Here we show that the number of ALS cases across the globe will increase from 222,801 in 2015 to 376,674 in 2040, representing an increase of 69%. This increase is predominantly due to ageing of the population, particularly among developing nations. This projection is likely an underestimate due to improving healthcare and economic conditions. The results should be used to inform healthcare policy to more efficiently allocate healthcare resources. PMID:27510634

  8. Extrapyramidal involvement in amyotrophic lateral sclerosis: backward falls and retropulsion

    PubMed Central

    Desai, J.; Swash, M.

    1999-01-01

    Three patients with sporadic amyotrophic lateral sclerosis (ALS) presented with a history of backward falls. Impaired postural reflexes and retropulsion accompanied clinical features of ALS. Hypokinesia, decreased arm swing, and a positive glabellar tap were noted in two of these three patients. Cognitive impairment, tremor, axial rigidity, sphincter dysfunction, nuchal dystonia, dysautonomia, and oculomotor dysfunction were absent. Brain MRI disclosed bilateral T2 weighted hyperintensities in the internal capsule and globus pallidus in one patient. Necropsy studies performed late in the course of ALS have shown degeneration in extrapyramidal sites—for example, the globus pallidus, thalamus, and substantia nigra. Clinically, backward falls and retropulsion may occur early in ALS. This may reflect extrapyramidal involvement.

 PMID:10406993

  9. Case of Young-Onset Sporadic Amyotrophic Lateral Sclerosis.

    PubMed

    Artemiadis, Artemios K; Peppas, Christos; Giannopoulos, Sotiris; Zouvelou, Vasiliki; Triantafyllou, Nikos

    2016-06-01

    Amyotrophic lateral sclerosis (ALS) constitutes the main type of motor neuron disease. Familial ALS is characterized by the presence of positive family history and accounts for 10% of ALS cases. Although familial ALS is the main culprit for early-onset disease, there are rare cases of early- or young-onset ALS with negative family history or sporadic ALS. We describe a 23-year-old man with clinical and electrophysiological evidence of probable sporadic ALS according to the revised EI Escorial criteria. Interestingly, brain neuroimaging revealed bilaterally increased T2 signals across corona radiata, posterior limb of the internal capsule, and descending motor tracts in the brainstem and hypointensity rim of the motor cortex on T2-weighted images. Young-onset sporadic ALS may be a distinct nosological entity. The topic is shortly discussed in the light of its genetic and clinical characteristics.

  10. Microstructural Correlates of Emotional Attribution Impairment in Non-Demented Patients with Amyotrophic Lateral Sclerosis

    PubMed Central

    Cerami, Chiara; Dodich, Alessandra; Canessa, Nicola; Iannaccone, Sandro; Corbo, Massimo; Lunetta, Christian; Falini, Andrea; Cappa, Stefano F.

    2016-01-01

    Impairments in the ability to recognize and attribute emotional states to others have been described in amyotrophic lateral sclerosis patients and linked to the dysfunction of key nodes of the emotional empathy network. Microstructural correlates of such disorders are still unexplored. We investigated the white-matter substrates of emotional attribution deficits in a sample of amyotrophic lateral sclerosis patients without cognitive decline. Thirteen individuals with either probable or definite amyotrophic lateral sclerosis and 14 healthy controls were enrolled in a Diffusion Tensor Imaging study and administered the Story-based Empathy Task, assessing the ability to attribute mental states to others (i.e., Intention and Emotion attribution conditions). As already reported, a significant global reduction of empathic skills, mainly driven by a failure in Emotion Attribution condition, was found in amyotrophic lateral sclerosis patients compared to healthy subjects. The severity of this deficit was significantly correlated with fractional anisotropy along the forceps minor, genu of corpus callosum, right uncinate and inferior fronto-occipital fasciculi. The involvement of frontal commissural fiber tracts and right ventral associative fronto-limbic pathways is the microstructural hallmark of the impairment of high-order processing of socio-emotional stimuli in amyotrophic lateral sclerosis. These results support the notion of the neurofunctional and neuroanatomical continuum between amyotrophic lateral sclerosis and frontotemporal dementia. PMID:27513746

  11. Neuron-specific antioxidant OXR1 extends survival of a mouse model of amyotrophic lateral sclerosis

    PubMed Central

    Liu, Kevin X.; Edwards, Benjamin; Lee, Sheena; Finelli, Mattéa J.; Davies, Ben

    2015-01-01

    Amyotrophic lateral sclerosis is a devastating neurodegenerative disorder characterized by the progressive loss of spinal motor neurons. While the aetiological mechanisms underlying the disease remain poorly understood, oxidative stress is a central component of amyotrophic lateral sclerosis and contributes to motor neuron injury. Recently, oxidation resistance 1 (OXR1) has emerged as a critical regulator of neuronal survival in response to oxidative stress, and is upregulated in the spinal cord of patients with amyotrophic lateral sclerosis. Here, we tested the hypothesis that OXR1 is a key neuroprotective factor during amyotrophic lateral sclerosis pathogenesis by crossing a new transgenic mouse line that overexpresses OXR1 in neurons with the SOD1G93A mouse model of amyotrophic lateral sclerosis. Interestingly, we report that overexpression of OXR1 significantly extends survival, improves motor deficits, and delays pathology in the spinal cord and in muscles of SOD1G93A mice. Furthermore, we find that overexpression of OXR1 in neurons significantly delays non-cell-autonomous neuroinflammatory response, classic complement system activation, and STAT3 activation through transcriptomic analysis of spinal cords of SOD1G93A mice. Taken together, these data identify OXR1 as the first neuron-specific antioxidant modulator of pathogenesis and disease progression in SOD1-mediated amyotrophic lateral sclerosis, and suggest that OXR1 may serve as a novel target for future therapeutic strategies. PMID:25753484

  12. Microstructural Correlates of Emotional Attribution Impairment in Non-Demented Patients with Amyotrophic Lateral Sclerosis.

    PubMed

    Crespi, Chiara; Cerami, Chiara; Dodich, Alessandra; Canessa, Nicola; Iannaccone, Sandro; Corbo, Massimo; Lunetta, Christian; Falini, Andrea; Cappa, Stefano F

    2016-01-01

    Impairments in the ability to recognize and attribute emotional states to others have been described in amyotrophic lateral sclerosis patients and linked to the dysfunction of key nodes of the emotional empathy network. Microstructural correlates of such disorders are still unexplored. We investigated the white-matter substrates of emotional attribution deficits in a sample of amyotrophic lateral sclerosis patients without cognitive decline. Thirteen individuals with either probable or definite amyotrophic lateral sclerosis and 14 healthy controls were enrolled in a Diffusion Tensor Imaging study and administered the Story-based Empathy Task, assessing the ability to attribute mental states to others (i.e., Intention and Emotion attribution conditions). As already reported, a significant global reduction of empathic skills, mainly driven by a failure in Emotion Attribution condition, was found in amyotrophic lateral sclerosis patients compared to healthy subjects. The severity of this deficit was significantly correlated with fractional anisotropy along the forceps minor, genu of corpus callosum, right uncinate and inferior fronto-occipital fasciculi. The involvement of frontal commissural fiber tracts and right ventral associative fronto-limbic pathways is the microstructural hallmark of the impairment of high-order processing of socio-emotional stimuli in amyotrophic lateral sclerosis. These results support the notion of the neurofunctional and neuroanatomical continuum between amyotrophic lateral sclerosis and frontotemporal dementia.

  13. Neuron-specific antioxidant OXR1 extends survival of a mouse model of amyotrophic lateral sclerosis.

    PubMed

    Liu, Kevin X; Edwards, Benjamin; Lee, Sheena; Finelli, Mattéa J; Davies, Ben; Davies, Kay E; Oliver, Peter L

    2015-05-01

    Amyotrophic lateral sclerosis is a devastating neurodegenerative disorder characterized by the progressive loss of spinal motor neurons. While the aetiological mechanisms underlying the disease remain poorly understood, oxidative stress is a central component of amyotrophic lateral sclerosis and contributes to motor neuron injury. Recently, oxidation resistance 1 (OXR1) has emerged as a critical regulator of neuronal survival in response to oxidative stress, and is upregulated in the spinal cord of patients with amyotrophic lateral sclerosis. Here, we tested the hypothesis that OXR1 is a key neuroprotective factor during amyotrophic lateral sclerosis pathogenesis by crossing a new transgenic mouse line that overexpresses OXR1 in neurons with the SOD1(G93A) mouse model of amyotrophic lateral sclerosis. Interestingly, we report that overexpression of OXR1 significantly extends survival, improves motor deficits, and delays pathology in the spinal cord and in muscles of SOD1(G93A) mice. Furthermore, we find that overexpression of OXR1 in neurons significantly delays non-cell-autonomous neuroinflammatory response, classic complement system activation, and STAT3 activation through transcriptomic analysis of spinal cords of SOD1(G93A) mice. Taken together, these data identify OXR1 as the first neuron-specific antioxidant modulator of pathogenesis and disease progression in SOD1-mediated amyotrophic lateral sclerosis, and suggest that OXR1 may serve as a novel target for future therapeutic strategies.

  14. Clinical usefulness of ankle brachial index and brachial-ankle pulse wave velocity in patients with ischemic stroke

    PubMed Central

    Lee, Hyung-Suk; Lee, Hye Lim; Han, Ho-seong; Yeo, Minju; Kim, Ji Seon; Lee, Sung-Hyun; Lee, Sang-Soo; Shin, Dong-Ick

    2016-01-01

    Abstract Ankle brachial index (ABI) and brachial-ankle pulse wave velocity (baPWV) are widely used noninvasive modalities to evaluate atherosclerosis. Recently, evidence has increased supporting the use of ABI and baPWV as markers of cerebrovascular disease. This study sought to examine the relationship between ABI and baPWV with ischemic stroke. This study also aimed to determine which pathogenic mechanism, large artery disease (LAD) or small vessel disease (SVD), is related to ABI or baPWV. Retrospectively, 121 patients with ischemic stroke and 38 subjects with no obvious ischemic stroke history were recruited. First, ABI and baPWV were compared between the groups. Then, within the stroke group, the relevance of ABI and baPWV with regard to SVD and LAD, which were classified by brain magnetic resonance image (MRI) and magnetic resonance angiography (MRA) or computed tomography angiography (CTA) findings, was assessed. The baPWV was higher in the stroke group than non-stroke group (1,944.18±416.6 cm/s vs. 1,749.76±669.6 cm/s, P<0.01). Regarding LAD, we found that mean ABI value was lower in the group with extracranial large artery stenosis (P<0.01), and there was an inverse linear correlation between ABI and the grade of extracranial large artery stenosis (P<0.01). For SVD, there was a significant correlation between SVD and baPWV (2,057.6±456.57 cm/s in the SVD (+) group vs. 1,491±271.62 cm/s in the SVD (-) group; P<0.01). However, the grade of abnormalities detected in SVD did not correlate linearly with baPWV. These findings show that baPWV is a reliable surrogate marker of ischemic stroke. Furthermore, baPWV and ABI can be used to indicate the presence of small vessel disease and large arterial disease, respectively. PMID:27533937

  15. A case of relapsing-remitting facial palsy and ipsilateral brachial plexopathy caused by HSV-1.

    PubMed

    Alstadhaug, Karl B; Kvarenes, Hanne W; Prytz, Jan; Vedeler, Christian

    2016-05-01

    The etiologies of Bell's palsy and brachial neuritis remain uncertain, and the conditions rarely co-occur or reoccur. Here we present a woman in her twenties who had several relapsing-remitting episodes with left-sided facial palsy and brachial neuropathy. The episodes always started with painful left-sided oral blisters. Repeat PCRs HSV-1 DNA from oral vesicular lesions were positive. Extensive screening did not reveal any other underlying cause. Findings on MRI T2-weighted brachial plexus STIR images, using a 3.0-Tesla scanner during an episode, were compatible with brachial plexus neuritis. Except a mannose-binding lectin deficiency, a congenital complement deficiency that is frequently found in the general Caucasian population, no other immunodeficiency was demonstrated in our patient. In vitro resistance to acyclovir was tested negative, but despite prophylactic treatment with the drug in high doses, relapses recurred. To our knowledge, this is the first ever reported documentation of relapsing-remitting facial and brachial plexus neuritis caused by HSV-1. PMID:26991053

  16. Above Elbow Amputation Under Brachial Plexus Block at Supraclavicular and Interscalene Levels

    PubMed Central

    Ahmad, Hassan; Yadagiri, Manjula; Macrosson, Duncan; Majeed, Amer

    2015-01-01

    Introduction: The brachial plexus block is a commonly performed procedure in the anesthetic practice today. It is performed for analgesia as well as anesthesia for upper limb procedures. It has been used for amputation and replantation surgeries of the upper limb. Case presentation: We present the case of a 68-year-old gentleman who had brachial plexus block at supraclavicular and interscalene levels as the sole anesthetic for undergoing above elbow amputation. He was deemed to be very high risk for a general anesthetic as he suffered from severe chronic obstructive pulmonary disease (COPD) and a very poor exercise tolerance (NYHA Class III). The supraclavicular brachial plexus block was supplemented with an interscalene brachial plexus block due to inadequate surgical anesthesia encountered with the former. The procedure was successfully completed under regional anesthesia. Conclusions: The brachial plexus block can be performed at different levels in the same patient to achieve desired results, while employing sound anatomical knowledge and adhering to the maximum safe dose limit of the local anesthetic. PMID:26705518

  17. Comparision of nerve stimulator and ultrasonography as the techniques applied for brachial plexus anesthesia

    PubMed Central

    2011-01-01

    Background Brachial plexus block is useful for upper extremity surgery, and many techniques are available. The aim of our study was to compare the efficacy of axillary brachial plexus block using an ultrasound technique to the peripheral nerve stimulation technique. Methods 60 patients scheduled for surgery of the forearm or hand were randomly allocated into two groups (n = 30 per group). For Group 1; US, and for Group 2 PNS was applied. The quality and the onset of the sensorial and motor blockade were assessed. The sensorial blockade, motor blockade time and quality of blockade were compared among the cases. Results The time needed to perform the axillary brachial plexus block averaged is similar in both groups (p > 0.05). Although not significant statistically, it was observed that the sensory block had formed earlier in Group 1 (p > 0.05). But the degree of motor blockade was intenser in Group 1 than in Group 2 (p < 0.05). Conclusions Ultrasound offers a new possibility for identifiying the nerves of the brachial plexus for regional anesthesia. The ultrasound-guided axillary brachial plexus block is a safe method with faster onset time and better quality of motor blockade compared to peripheral nerve stimulation technique. PMID:21255404

  18. Hand Function in Children with an Upper Brachial Plexus Birth Injury: Results of the Nine-Hole Peg Test

    ERIC Educational Resources Information Center

    Immerman, Igor; Alfonso, Daniel T.; Ramos, Lorna E.; Grossman, Leslie A.; Alfonso, Israel; Ditaranto, Patricia; Grossman, John A. I.

    2012-01-01

    Aim: The aim of this study was to evaluate hand function in children with Erb upper brachial plexus palsy. Method: Hand function was evaluated in 25 children (eight males; 17 females) with a diagnosed upper (C5/C6) brachial plexus birth injury. Of these children, 22 had undergone primary nerve reconstruction and 13 of the 25 had undergone…

  19. Constraint-Induced Movement Therapy for Children with Obstetric Brachial Plexus Palsy: Two Single-Case Series

    ERIC Educational Resources Information Center

    Buesch, Francisca Eugster

    2010-01-01

    The objective of this pilot study was to investigate the feasibility of constraint-induced movement therapy (CIMT) in children with obstetric brachial plexus palsy and receive preliminary information about functional improvements. Two patients (age 12 years) with obstetric brachial plexus palsy were included for a 126-h home-based CIMT…

  20. Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers.

    PubMed

    Kim, Kyoung-Eun

    2014-11-15

    A brachial plexus lesion is not common in hereditary neuropathy with liability to pressure palsy (HNPP). We report the clinical and electrodiagnostic features of young soldiers with HNPP presenting with brachial plexopathy. By reviewing 2year medical records from Korean military hospitals, we identified soldiers with brachial plexus lesions. Among them, patients diagnosed with HNPP were determined and clinical and electrophysiological findings were compared between HNPP and non-HNPP patients with a brachial plexus lesion. Thirteen patients (6.8%) were diagnosed with HNPP among 189 patients with a brachial plexus lesion. Push-ups, as either a punishment or an exercise, was the most frequent preceding event in HNPP patients (76.9%), whereas it was rare in non-HNPP patients. The distal motor latency of the median nerve showed the highest sensitivity (90.9%) and specificity (100%) for HNPP in patients with a brachial plexus lesion. In conclusion, HNPP should be suspected in patients with brachial plexopathy if brachial plexopathy develops after push-ups or if the distal motor latency of median nerves is prolonged.

  1. Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers.

    PubMed

    Kim, Kyoung-Eun

    2014-11-15

    A brachial plexus lesion is not common in hereditary neuropathy with liability to pressure palsy (HNPP). We report the clinical and electrodiagnostic features of young soldiers with HNPP presenting with brachial plexopathy. By reviewing 2year medical records from Korean military hospitals, we identified soldiers with brachial plexus lesions. Among them, patients diagnosed with HNPP were determined and clinical and electrophysiological findings were compared between HNPP and non-HNPP patients with a brachial plexus lesion. Thirteen patients (6.8%) were diagnosed with HNPP among 189 patients with a brachial plexus lesion. Push-ups, as either a punishment or an exercise, was the most frequent preceding event in HNPP patients (76.9%), whereas it was rare in non-HNPP patients. The distal motor latency of the median nerve showed the highest sensitivity (90.9%) and specificity (100%) for HNPP in patients with a brachial plexus lesion. In conclusion, HNPP should be suspected in patients with brachial plexopathy if brachial plexopathy develops after push-ups or if the distal motor latency of median nerves is prolonged. PMID:25175852

  2. Hirayama Disease with Proximal Involvement.

    PubMed

    Kim, Jinil; Kim, Yuntae; Kim, Sooa; Oh, Kiyoung

    2016-10-01

    Hirayama disease is a slowly progressing benign motor neuron disease that affects the distal upper limb. A 29-year-old man visited the hospital with a 1-year history of weakened left proximal upper limb. He was diagnosed with Hirayama disease 9 years ago, while there was no further progression of the muscle weakness afterward. Atrophy and weakness was detected in proximal upper limb muscles. Magnetic resonance imaging and somatosensory evoked potentials were normal. Needle electromyography showed abnormal findings in proximal upper limb muscles. Our patient had Hirayama disease involving the proximal portion through secondary progression. Clinical manifestation and accurate electromyography may be useful for diagnosis. Rare cases with progression patterns as described here are helpful and have clinical meaning for clinicians. PMID:27550499

  3. Hirayama Disease with Proximal Involvement

    PubMed Central

    2016-01-01

    Hirayama disease is a slowly progressing benign motor neuron disease that affects the distal upper limb. A 29-year-old man visited the hospital with a 1-year history of weakened left proximal upper limb. He was diagnosed with Hirayama disease 9 years ago, while there was no further progression of the muscle weakness afterward. Atrophy and weakness was detected in proximal upper limb muscles. Magnetic resonance imaging and somatosensory evoked potentials were normal. Needle electromyography showed abnormal findings in proximal upper limb muscles. Our patient had Hirayama disease involving the proximal portion through secondary progression. Clinical manifestation and accurate electromyography may be useful for diagnosis. Rare cases with progression patterns as described here are helpful and have clinical meaning for clinicians. PMID:27550499

  4. Tools for proximal soil sensing

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Proximal soil sensing (i.e. near-surface geophysical methods) are used to study soil phenomena across spatial scales. Geophysical methods exploit contrasts in physical properties (dielectric permittivity, apparent electrical conductivity or resistivity, magnetic susceptibility) to indirectly measur...

  5. Reversal of phantom pain and hand-to-face remapping after brachial plexus avulsion.

    PubMed

    Tsao, Jack W; Finn, Sacha B; Miller, Matthew E

    2016-06-01

    Following left brachial plexus avulsion, a 20-year-old man had phantom limb pain and remapping of sensation from his paralyzed hand onto his face. Mirror therapy (15 min daily, 5 days/week) led immediately to good movement of the phantom limb with decreased pain. Within 2 weeks following nerve graft surgery, remapping of hand sensation onto the face disappeared along with resolution of phantom limb pain. Mirror therapy coupled with nerve grafting may relieve phantom limb pain due to brachial plexus avulsion and reverse hand-to-face remapping, suggesting that both peripheral and central mechanisms mediate development of phantom limb pain and cortical reorganization/neuroplasticity after brachial plexus avulsion. PMID:27547774

  6. A new rat model of neuropathic pain: complete brachial plexus avulsion.

    PubMed

    Wang, Le; Yuzhou, Liu; Yingjie, Zhou; Jie, Lao; Xin, Zhao

    2015-03-01

    Brachial plexus avulsion (BPA) is one of the major injuries in motor vehicle accidents and may result in neuropathic pain. Accumulating evidence suggests that 30-80% of BPA developed neuropathic pain in human. In our study, complete brachial plexus avulsion (C5-T1) rats model leads to the results that 37.5% of rats had long-lasting (up to 6 months) mechanical allodynia and cold allodynia. We observed the activation of astrocyte and microglial in cervical spinal cord after BPA. Complete brachial plexus avulsion mimics human nerve root traction injury following traffic accidents. The complete BPA rat model approach human injuries and can be used for further investigations. PMID:25596440

  7. Does C5 or C6 Radiculopathy Affect the Signal Intensity of the Brachial Plexus on Magnetic Resonance Neurography?

    PubMed

    Seo, Tae Gyu; Kim, Du Hwan; Kim, In-Soo; Son, Eun Seok

    2016-04-01

    Patients with C5 or C6 radiculopathy complain of shoulder area pain or shoulder girdle weakness. Typical idiopathic neuralgic amyotrophy (INA) is also characterized by severe shoulder pain, followed by paresis of shoulder girdle muscles. Recent studies have demonstrated that magnetic resonance neurography (MRN) of the brachial plexus and magnetic resonance imaging (MRI) of the shoulder in patients with INA show high signal intensity (HSI) or thickening of the brachial plexus and changes in intramuscular denervation of the shoulder girdle. We evaluated the value of brachial plexus MRN and shoulder MRI in four patients with typical C5 or C6 radiculopathy. HSI of the brachial plexus was noted in all patients and intramuscular changes were observed in two patients who had symptoms over 4 weeks. Our results suggest that HSI or thickening of the brachial plexus and changes in intramuscular denervation of the shoulder girdle on MRN and MRI may not be specific for INA. PMID:27152289

  8. Does C5 or C6 Radiculopathy Affect the Signal Intensity of the Brachial Plexus on Magnetic Resonance Neurography?

    PubMed Central

    Seo, Tae Gyu; Kim, In-Soo; Son, Eun Seok

    2016-01-01

    Patients with C5 or C6 radiculopathy complain of shoulder area pain or shoulder girdle weakness. Typical idiopathic neuralgic amyotrophy (INA) is also characterized by severe shoulder pain, followed by paresis of shoulder girdle muscles. Recent studies have demonstrated that magnetic resonance neurography (MRN) of the brachial plexus and magnetic resonance imaging (MRI) of the shoulder in patients with INA show high signal intensity (HSI) or thickening of the brachial plexus and changes in intramuscular denervation of the shoulder girdle. We evaluated the value of brachial plexus MRN and shoulder MRI in four patients with typical C5 or C6 radiculopathy. HSI of the brachial plexus was noted in all patients and intramuscular changes were observed in two patients who had symptoms over 4 weeks. Our results suggest that HSI or thickening of the brachial plexus and changes in intramuscular denervation of the shoulder girdle on MRN and MRI may not be specific for INA. PMID:27152289

  9. Outcome in adolescence of brachial plexus birth palsy

    PubMed Central

    Hulleberg, Gunn; Elvrum, Ann-Kristin G; Brandal, Merethe; Vik, Torstein

    2014-01-01

    Background and purpose — The frequency and severity of a permanent lesion after brachial plexus birth palsy (BPBP) and its impact on activities of daily living are not well documented. We therefore investigated the outcome of BPBP in adolescents, regarding arm function and consequences for activity and participation. Participants and methods — Of 30,574 babies born at St. Olavs University Hospital in 1991–2000, 91 had BPBP (prevalence 3 per 1,000), and 69 of these individuals were examined at a median age of 14 (10–20) years. The examination included the modified Mallet classification, range of motion, shoulder rotation and grip strength, Assisting Hand Assessment, and Canadian Occupational Performance Measure. Of the 22 subjects who were not examined, 3 could not be traced and 19 reported having no problems in the affected arm. Results — At follow-up, 17 adolescents had a permanent lesion (i.e. individual Mallet subscore below 4) with a median Mallet total score of 15 (9–19), while 52 had good or normal shoulder function (median Mallet total score 25 (23–25)). All participants with a permanent lesion had reduced active shoulder rotation (≤ 15°), 16 had elbow extension deficit, and 10 had subnormal grip strength. External rotation was considerably weaker in the affected shoulder. In addition, they had ineffective use of the affected arm in bimanual activities. Even so, all except 1 were independent in activities of daily living, although 15 experienced minor difficulties. Interpretation — Every fourth to fifth child with BPBP had a permanent lesion as an adolescent. External rotation was the most impaired movement. Despite ineffective use of the affected arm in bimanual activities, all of the participants except one were independent in activities of daily living. PMID:25238434

  10. Iatrogenic brachial artery injury during pinning of supracondylar fracture of humerus: A rare injury.

    PubMed

    Vishal, Kumar; Arjun, R H H; Sameer, Aggarwal; Rakesh, John; Rama, Kishan

    2015-01-01

    Complications following supracondylar fracture of humerus are well-known. Pre- and post-operative complications have been documented in the literature. Neurovascular injury due to fracture fragments following this type of fracture is described. Iatrogenic brachial artery during surgical treatment of this fracture is unknown to the literature. So we report a rare case of iatrogenic brachial artery injury during pinning of supracondylar fracture of humerus and try to create awareness to the surgeons that such injuries can occur with improper operative techniques. PMID:26777716

  11. Brachial Artery Aneurysm in a 7-Month-Old Infant: Case Report and Literature Review

    PubMed Central

    Gangopadhyay, Noopur; Chong, Tae; Chhabra, Avneesh

    2016-01-01

    Summary: Congenital upper extremity aneurysms are very rare and can be challenging to diagnose and treat. Although they can present as an isolated finding, they are often associated with other systemic conditions. We present a rare case of brachial artery aneurysm in a 7-month-old boy. The patient was evaluated with ultrasound, magnetic resonance angiography, and vein mapping before surgical reconstruction. After excision of the aneurysm, the brachial artery was reconstructed with an interposition saphenous vein graft. Because of potentially associated diagnoses and the possibility of concurrent aneurysms, this condition requires multidisciplinary management. PMID:27014554

  12. Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy

    PubMed Central

    Wedderburn, Sarah; Pateria, Puraskar; Panegyres, Peter K.

    2014-01-01

    It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painless flail upper limb with a clinical diagnosis of a brachial plexopathy after his partner slept on his arm – a PMP22 deletion was found. His father, who had a symmetrical polyneuropathy without recurrent mononeuropathies, shared the PMP22 deletion. PMID:25685136

  13. Riluzole exerts central and peripheral modulating effects in amyotrophic lateral sclerosis.

    PubMed

    Vucic, Steve; Lin, Cindy Shin-Yi; Cheah, Benjamin C; Murray, Jenna; Menon, Parvathi; Krishnan, Arun V; Kiernan, Matthew C

    2013-05-01

    Riluzole, a benzothiazole derivative, has been shown to be effective in prolonging survival in amyotrophic lateral sclerosis. The mechanisms by which riluzole exerts neuroprotective effects in amyotrophic lateral sclerosis remains to be fully elucidated, although inhibition of glutamatergic transmission and modulation of Na+ channel function have been proposed. In an attempt to determine the mechanisms by which riluzole exerts neuroprotective effects, in particular to dissect the relative contributions of inhibition of glutamatergic transmission and Na+ channel modulation, the present study utilized a combination of cortical and peripheral axonal excitability approaches to monitor changes in excitability and function in patients with amyotrophic lateral sclerosis. Cortical assessment was undertaken by utilising the threshold tracking transcranial magnetic stimulation (TMS) technique and combined with peripheral axonal excitability studies in 25 patients with amyotrophic lateral sclerosis. Studies were performed at baseline and repeated when patients were receiving riluzole 100 mg/day. At the time of second testing all patients were tolerating the medication well. Motor evoked potential and compound muscle action potential responses were recorded over the abductor pollicis brevis muscle. At baseline, features of cortical hyperexcitability were evident in patients with amyotrophic lateral sclerosis, indicated by marked reduction in short interval intracortical inhibition (P < 0.001) and cortical silent period duration (P < 0.001), as well as an increase in the motor evoked potential amplitude (P < 0.01). Riluzole therapy partially normalized cortical excitability by significantly increasing short interval intracortical inhibition (short interval intracortical inhibitionbaseline 0.5 ± 1.8%; short interval intracortical inhibitionON riluzole 7.9 ± 1.7%, P < 0.01). In contrast, riluzole did not exert any modulating effect on cortical silent period duration (P = 0

  14. Lockhart Clarke’s contribution to the description of amyotrophic lateral sclerosis

    PubMed Central

    Turner, Martin R.; Swash, Michael; Ebers, George C.

    2011-01-01

    The definition of the clinicopathological entity of amyotrophic lateral sclerosis evolved over half a century. Although the definitive term amyotrophic lateral sclerosis that acknowledged both upper and lower motor neuron involvement was attributed to Jean-Martin Charcot in 1874, his initial case was published nearly a decade earlier; and it is accepted that, from at least the 1830s, several others (including Charles Bell, François-Amilcar Aran and Jean Cruveilhier) had already recognized a progressive lower motor neuron-only syndrome within a broader, clinically-defined group of disorders, termed progressive muscular atrophy. Although William Gowers first grouped the three phenotypes of amyotrophic lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy together as part of the same syndrome, the term motor neuron disease, as an over-arching label, was not suggested until nearly a century later by W. Russell Brain. Augustus Jacob Lockhart Clarke (1817–80) is best known for his descriptions of spinal cord anatomy. However, in two detailed case reports from the 1860s, he carried out rigorous post-mortem neuropathological studies of what appear to be classical cases of amyotrophic lateral sclerosis. Furthermore, he recognized the additional involvement of the corticospinal tracts that distinguished this from progressive muscular atrophy. Several aspects of the exquisite clinical histories documented as part of both studies, one by Charles Bland Radcliffe, resonate with contemporary debates concerning the evolution of disease in amyotrophic lateral sclerosis. These ‘past masters’ still have much to teach us. PMID:20576696

  15. Exposing asymmetric gray matter vulnerability in amyotrophic lateral sclerosis

    PubMed Central

    Devine, Matthew S.; Pannek, Kerstin; Coulthard, Alan; McCombe, Pamela A.; Rose, Stephen E.; Henderson, Robert D.

    2015-01-01

    Limb weakness in amyotrophic lateral sclerosis (ALS) is typically asymmetric. Previous studies have identified an effect of limb dominance on onset and spread of weakness, however relative atrophy of dominant and non-dominant brain regions has not been investigated. Our objective was to use voxel-based morphometry (VBM) to explore gray matter (GM) asymmetry in ALS, in the context of limb dominance. 30 ALS subjects were matched with 17 healthy controls. All subjects were right-handed. Each underwent a structural MRI sequence, from which GM segmentations were generated. Patterns of GM atrophy were assessed in ALS subjects with first weakness in a right-sided limb (n = 15) or left-sided limb (n = 15). Within each group, a voxelwise comparison was also performed between native and mirror GM images, to identify regions of hemispheric GM asymmetry. Subjects with ALS showed disproportionate atrophy of the dominant (left) motor cortex hand area, irrespective of the side of first limb weakness (p < 0.01). Asymmetric atrophy of the left somatosensory cortex and temporal gyri was only observed in ALS subjects with right-sided onset of limb weakness. Our VBM protocol, contrasting native and mirror images, was able to more sensitively detect asymmetric GM pathology in a small cohort, compared with standard methods. These findings indicate particular vulnerability of dominant upper limb representation in ALS, supporting previous clinical studies, and with implications for cortical organisation and selective vulnerability. PMID:25844330

  16. Exposing asymmetric gray matter vulnerability in amyotrophic lateral sclerosis.

    PubMed

    Devine, Matthew S; Pannek, Kerstin; Coulthard, Alan; McCombe, Pamela A; Rose, Stephen E; Henderson, Robert D

    2015-01-01

    Limb weakness in amyotrophic lateral sclerosis (ALS) is typically asymmetric. Previous studies have identified an effect of limb dominance on onset and spread of weakness, however relative atrophy of dominant and non-dominant brain regions has not been investigated. Our objective was to use voxel-based morphometry (VBM) to explore gray matter (GM) asymmetry in ALS, in the context of limb dominance. 30 ALS subjects were matched with 17 healthy controls. All subjects were right-handed. Each underwent a structural MRI sequence, from which GM segmentations were generated. Patterns of GM atrophy were assessed in ALS subjects with first weakness in a right-sided limb (n = 15) or left-sided limb (n = 15). Within each group, a voxelwise comparison was also performed between native and mirror GM images, to identify regions of hemispheric GM asymmetry. Subjects with ALS showed disproportionate atrophy of the dominant (left) motor cortex hand area, irrespective of the side of first limb weakness (p < 0.01). Asymmetric atrophy of the left somatosensory cortex and temporal gyri was only observed in ALS subjects with right-sided onset of limb weakness. Our VBM protocol, contrasting native and mirror images, was able to more sensitively detect asymmetric GM pathology in a small cohort, compared with standard methods. These findings indicate particular vulnerability of dominant upper limb representation in ALS, supporting previous clinical studies, and with implications for cortical organisation and selective vulnerability. PMID:25844330

  17. Endocannabinoids in Multiple Sclerosis and Amyotrophic Lateral Sclerosis.

    PubMed

    Pryce, Gareth; Baker, David

    2015-01-01

    There are numerous reports that people with multiple sclerosis (MS) have for many years been self-medicating with illegal street cannabis or more recently medicinal cannabis to alleviate the symptoms associated with MS and also amyotrophic lateral sclerosis (ALS). These anecdotal reports have been confirmed by data from animal models and more recently clinical trials on the ability of cannabinoids to alleviate limb spasticity, a common feature of progressive MS (and also ALS) and neurodegeneration. Experimental studies into the biology of the endocannabinoid system have revealed that cannabinoids have efficacy, not only in symptom relief but also as neuroprotective agents which may slow disease progression and thus delay the onset of symptoms. This review discusses what we now know about the endocannabinoid system as it relates to MS and ALS and also the therapeutic potential of cannabinoid therapeutics as disease-modifying or symptom control agents, as well as future therapeutic strategies including the potential for slowing disease progression in MS and ALS. PMID:26408162

  18. Impaired Perception of Emotional Expression in Amyotrophic Lateral Sclerosis

    PubMed Central

    Oh, Seong-il; Oh, Ki-Wook; Kim, Hee-Jin; Park, Jin-Seok

    2016-01-01

    Background and Purpose The increasing recognition that deficits in social emotions occur in amyotrophic lateral sclerosis (ALS) is helping to explain the spectrum of neuropsychological dysfunctions, thus supporting the view of ALS as a multisystem disorder involving neuropsychological deficits as well as motor deficits. The aim of this study was to characterize the emotion perception abilities of Korean patients with ALS based on the recognition of facial expressions. Methods Twenty-four patients with ALS and 24 age- and sex-matched healthy controls completed neuropsychological tests and facial emotion recognition tasks [ChaeLee Korean Facial Expressions of Emotions (ChaeLee-E)]. The ChaeLee-E test includes facial expressions for seven emotions: happiness, sadness, anger, disgust, fear, surprise, and neutral. Results The ability to perceive facial emotions was significantly worse among ALS patients performed than among healthy controls [65.2±18.0% vs. 77.1±6.6% (mean±SD), p=0.009]. Eight of the 24 patients (33%) scored below the 5th percentile score of controls for recognizing facial emotions. Conclusions Emotion perception deficits occur in Korean ALS patients, particularly regarding facial expressions of emotion. These findings expand the spectrum of cognitive and behavioral dysfunction associated with ALS into emotion processing dysfunction. PMID:27095526

  19. Communication and pragmatic breakdowns in amyotrophic lateral sclerosis patients.

    PubMed

    Bambini, Valentina; Arcara, Giorgio; Martinelli, Ilaria; Bernini, Sara; Alvisi, Elena; Moro, Andrea; Cappa, Stefano F; Ceroni, Mauro

    2016-02-01

    While there is increasing attention toward cognitive changes in amyotrophic lateral sclerosis (ALS), the domain of pragmatics, defined as the ability to integrate language and context to engage in successful communication, remains unexplored. Here we tested pragmatic abilities in 33 non-demented ALS patients and 33 healthy controls matched for age and education through 6 different tasks, ranging from discourse organization to the comprehension of figurative language, further grouped in three composite measures for pragmatic production, pragmatic comprehension and global pragmatic abilities. For a subgroup of patients, assessment included executive functions and social cognition skills. ALS patients were impaired on all pragmatic tasks relative to controls, with 45% of the patients performing below cut-off in at least one pragmatic task, and 36% impaired on the global pragmatic score. Pragmatic breakdowns were more common than executive deficit as defined by the consensus criteria, and approximately as prevalent as deficits in social cognition. Multiple regression analyses support the idea of an interplay of executive and social cognition abilities in determining the pragmatic performance, although all these domains show some degree of independence. These findings shed light on pragmatic impairment as a relevant dimension of ALS, which deserves further consideration in defining the cognitive profile of the disease, given its vital role for communication and social interaction in daily life. PMID:26799425

  20. Dynamic markers of altered gait rhythm in amyotrophic lateral sclerosis

    NASA Technical Reports Server (NTRS)

    Hausdorff, J. M.; Lertratanakul, A.; Cudkowicz, M. E.; Peterson, A. L.; Kaliton, D.; Goldberger, A. L.

    2000-01-01

    Amyotrophic lateral sclerosis (ALS) is a disorder marked by loss of motoneurons. We hypothesized that subjects with ALS would have an altered gait rhythm, with an increase in both the magnitude of the stride-to-stride fluctuations and perturbations in the fluctuation dynamics. To test for this locomotor instability, we quantitatively compared the gait rhythm of subjects with ALS with that of normal controls and with that of subjects with Parkinson's disease (PD) and Huntington's disease (HD), pathologies of the basal ganglia. Subjects walked for 5 min at their usual pace wearing an ankle-worn recorder that enabled determination of the duration of each stride and of stride-to-stride fluctuations. We found that the gait of patients with ALS is less steady and more temporally disorganized compared with that of healthy controls. In addition, advanced ALS, HD, and PD were associated with certain common, as well as apparently distinct, features of altered stride dynamics. Thus stride-to-stride control of gait rhythm is apparently compromised with ALS. Moreover, a matrix of markers based on gait dynamics may be useful in characterizing certain pathologies of motor control and, possibly, in quantitatively monitoring disease progression and evaluating therapeutic interventions.

  1. Communication and pragmatic breakdowns in amyotrophic lateral sclerosis patients.

    PubMed

    Bambini, Valentina; Arcara, Giorgio; Martinelli, Ilaria; Bernini, Sara; Alvisi, Elena; Moro, Andrea; Cappa, Stefano F; Ceroni, Mauro

    2016-02-01

    While there is increasing attention toward cognitive changes in amyotrophic lateral sclerosis (ALS), the domain of pragmatics, defined as the ability to integrate language and context to engage in successful communication, remains unexplored. Here we tested pragmatic abilities in 33 non-demented ALS patients and 33 healthy controls matched for age and education through 6 different tasks, ranging from discourse organization to the comprehension of figurative language, further grouped in three composite measures for pragmatic production, pragmatic comprehension and global pragmatic abilities. For a subgroup of patients, assessment included executive functions and social cognition skills. ALS patients were impaired on all pragmatic tasks relative to controls, with 45% of the patients performing below cut-off in at least one pragmatic task, and 36% impaired on the global pragmatic score. Pragmatic breakdowns were more common than executive deficit as defined by the consensus criteria, and approximately as prevalent as deficits in social cognition. Multiple regression analyses support the idea of an interplay of executive and social cognition abilities in determining the pragmatic performance, although all these domains show some degree of independence. These findings shed light on pragmatic impairment as a relevant dimension of ALS, which deserves further consideration in defining the cognitive profile of the disease, given its vital role for communication and social interaction in daily life.

  2. Socioeconomic costs of amyotrophic lateral sclerosis according to staging system.

    PubMed

    Oh, Juyeon; An, Ji Won; Oh, Seong-Il; Oh, Ki Wook; Kim, Jung A; Lee, Jeong Seop; Kim, Seung Hyun

    2015-06-01

    The objective of this study was to compare the cost of illness of amyotrophic lateral sclerosis (ALS) in the Korean population based on the staging system for ALS from the perspective of both patients and the government. Direct medical costs, care-related costs, and loss of productivity in patients with ALS were measured based on medical records and face-to-face interviews. The patients were divided into groups according to the staging system for ALS, and the cost of illness was analysed. A total of 151 patients with ALS were enrolled in the study. The mean monthly cost of ALS was US $7902 per patient and increased according to the disease stage (stage 2, US $5181; stage 3, US $7089; stage 4, US $10,557). Of direct medical costs (US $3436), 44.8% of the cost burden was carried by patients, and the remaining costs were paid by the government. In conclusion, although the current coverage rate of the National Health Insurance (NHI) system for rare and intractable diseases including ALS is 90%, the rate of direct medical costs paid by patients and out-of-pocket costs remain high. Moreover, coverage rates and cost of illness are closely related with disease severity. PMID:25646865

  3. Vitamin D as a potential therapy in amyotrophic lateral sclerosis.

    PubMed

    Gianforcaro, Alexandro; Hamadeh, Mazen J

    2014-02-01

    Vitamin D has been demonstrated to influence multiple aspects of amyotrophic lateral sclerosis (ALS) pathology. Both human and rodent central nervous systems express the vitamin D receptor (VDR) and/or its enzymatic machinery needed to fully activate the hormone. Clinical research suggests that vitamin D treatment can improve compromised human muscular ability and increase muscle size, supported by loss of motor function and muscle mass in animals following VDR knockout, as well as increased muscle protein synthesis and ATP production following vitamin D supplementation. Vitamin D has also been shown to reduce the expression of biomarkers associated with oxidative stress and inflammation in patients with multiple sclerosis, rheumatoid arthritis, congestive heart failure, Parkinson's disease and Alzheimer's disease; diseases that share common pathophysiologies with ALS. Furthermore, vitamin D treatment greatly attenuates hypoxic brain damage in vivo and reduces neuronal lethality of glutamate insult in vitro; a hallmark trait of ALS glutamate excitotoxicity. We have recently shown that high-dose vitamin D3 supplementation improved, whereas vitamin D3 restriction worsened, functional capacity in the G93A mouse model of ALS. In sum, evidence demonstrates that vitamin D, unlike the antiglutamatergic agent Riluzole, affects multiple aspects of ALS pathophysiology and could provide a greater cumulative effect. PMID:24428861

  4. Black hairy tongue in a patient with amyotrophic lateral sclerosis

    PubMed Central

    Erriu, Matteo; Pili, Francesca Maria Giovanna; Denotti, Gloria; Garau, Valentino

    2016-01-01

    Black hairy tongue (BHT) is a condition characterized by the elongation of filiform papillae associated with a marked discoloration, from yellowish-brown to black, and a thick lingual coating. BHT is usually observed in the elderly and in patients with limited self-sufficiency, as a consequence of poor oral hygiene. In this perspective, the patients affected by amyotrophic lateral sclerosis (ALS) represent a high-risk category for the occurrence of BHT. The fast and inexorable loss of their self-sufficiency due to progressive muscle atrophy as well as the impropriate education of healthcare assistants have demonstrated to have significant reflection on the maintenance of an adequate standard of oral hygiene. This paper firstly described a case of BHT in a patient affected by ALS. A case of BHT in a patient (Caucasic, male, 63 years old) affected by ALS was described. The primary goal of the work was to teach and motivate the patient to the use of the tongue cleaner in association with the local application of chlorexidine 0.20%. Furthermore, in order to support the patient with accurate domiciliary oral hygiene, a proper training for his health-care assistant was provided. The maintenance of the oral health of ALS patient is fundamental to prevent systemic complications that could jeopardize the already fragile physical balance of these patients. The dedicated monitoring by a dentist or a dental hygienist would seem essential in order to achieve this objective. PMID:27011938

  5. Dissociated lower limb muscle involvement in amyotrophic lateral sclerosis.

    PubMed

    Simon, Neil G; Lee, Michael; Bae, Jong Seok; Mioshi, Eneida; Lin, Cindy S-Y; Pfluger, Casey M; Henderson, Robert D; Vucic, Steve; Swash, Michael; Burke, David; Kiernan, Matthew C

    2015-06-01

    It has been suggested that corticomotoneuronal drive to ankle dorsiflexors is greater than to ankle plantar flexor muscles, despite the finding that plantar flexors are no less active than TA during walking and standing. The present study was undertaken to determine whether there was differential involvement of distal lower limb muscles in amyotrophic lateral sclerosis (ALS), to elucidate pathophysiological mechanisms of selective muscle involvement. Prospective studies were undertaken in 52 ALS patients, including clinical assessment, disease staging (revised ALS functional rating scale), Medical Research Council sum score, and a scale of upper motor neurone (UMN) dysfunction. Motor unit number estimates (MUNE) and compound muscle action potentials (CMAP) from ankle dorsiflexors and plantar flexors were used to provide objective measures. A novel 'split leg index' was calculated as follows: SLI = CMAPDF ÷ CMAPPF. In ALS, there was significantly greater reduction of MUNE and CMAP amplitude recorded from plantar flexors when compared to dorsiflexors, suggesting preferential involvement of plantar flexor muscles, underpinning a 'split leg' appearance. The SLI correlated with clinical plantar flexor strength (R= -0.56, p < 0.001). In no patient did the SLI suggest preferential dorsiflexor involvement. In subgroup analyses, mean SLI was greatest in lower limb-onset ALS. In conclusion, the present study has established dissociated involvement of muscles acting around the ankle in ALS. We suggest this reflects underlying differences in cortical, descending or local spinal modulation of these muscles. PMID:25845764

  6. Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis.

    PubMed

    Shang, Yulei; Huang, Eric J

    2016-09-15

    Recent advances in the genetics of amyotrophic lateral sclerosis (ALS) have provided key mechanistic insights to the pathogenesis of this devastating neurodegenerative disease. Among many etiologies for ALS, the identification of mutations and proteinopathies in two RNA binding proteins, TDP-43 (TARDBP or TAR DNA binding protein 43) and its closely related RNA/DNA binding protein FUS (fused in sarcoma), raises the intriguing possibility that perturbations to the RNA homeostasis and metabolism in neurons may contribute to the pathogenesis of these diseases. Although the similarities between TDP-43 and FUS suggest that mutations and proteinopathy involving these two proteins may converge on the same mechanisms leading to neurodegeneration, there is increasing evidence that FUS mutations target distinct mechanisms to cause early disease onset and aggressive progression of disease. This review focuses on the recent advances on the molecular, cellular and genetic approaches to uncover the mechanisms of wild type and mutant FUS proteins during development and in neurodegeneration. These findings provide important insights to understand how FUS mutations may perturb the maintenance of dendrites through fundamental processes in RNA splicing, RNA transport and DNA damage response/repair. These results contribute to the understanding of phenotypic manifestations in neurodegeneration related to FUS mutations, and to identify important directions for future investigations. This article is part of a Special Issue entitled SI:RNA Metabolism in Disease.

  7. Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset.

    PubMed

    Finsterer, Josef; Zarrouk-Mahjoub, Sinda

    2016-02-01

    Similarities between a mitochondrial disorder (MID) and amyotrophic lateral sclerosis (ALS) fade with disease progression and the development of mitochondrial multiple organ dysfunction syndrome (MIMODS). However, with mild MIMODS, a MID may still be misinterpreted as ALS. We report a 48-year-old male who presented to the Neurological Hospital Rosenhügel, Vienna, Austria, in February 2001 with slowly progressive weakness, wasting and left upper limb fasciculations which spread to the shoulder girdle and lower limbs. Additionally, he developed tetraspasticity and bulbar involvement. He had been diagnosed with ALS a year previously due to electrophysiological investigations indicative of a chronic neurogenic lesion. However, a muscle biopsy revealed morphological features of a MID and a combined complex-II/III defect. Nerve conduction studies were performed over subsequent years until February 2011. This case demonstrates that MIDs may mimic ALS at onset and begin as a mono-organ disorder but develop into a multi-organ disease with long-term progression. A combined complex II/III defect may manifest with bulbar involvement. PMID:26909222

  8. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

    PubMed

    Williams, Kelly L; Topp, Simon; Yang, Shu; Smith, Bradley; Fifita, Jennifer A; Warraich, Sadaf T; Zhang, Katharine Y; Farrawell, Natalie; Vance, Caroline; Hu, Xun; Chesi, Alessandra; Leblond, Claire S; Lee, Albert; Rayner, Stephanie L; Sundaramoorthy, Vinod; Dobson-Stone, Carol; Molloy, Mark P; van Blitterswijk, Marka; Dickson, Dennis W; Petersen, Ronald C; Graff-Radford, Neill R; Boeve, Bradley F; Murray, Melissa E; Pottier, Cyril; Don, Emily; Winnick, Claire; McCann, Emily P; Hogan, Alison; Daoud, Hussein; Levert, Annie; Dion, Patrick A; Mitsui, Jun; Ishiura, Hiroyuki; Takahashi, Yuji; Goto, Jun; Kost, Jason; Gellera, Cinzia; Gkazi, Athina Soragia; Miller, Jack; Stockton, Joanne; Brooks, William S; Boundy, Karyn; Polak, Meraida; Muñoz-Blanco, José Luis; Esteban-Pérez, Jesús; Rábano, Alberto; Hardiman, Orla; Morrison, Karen E; Ticozzi, Nicola; Silani, Vincenzo; de Belleroche, Jacqueline; Glass, Jonathan D; Kwok, John B J; Guillemin, Gilles J; Chung, Roger S; Tsuji, Shoji; Brown, Robert H; García-Redondo, Alberto; Rademakers, Rosa; Landers, John E; Gitler, Aaron D; Rouleau, Guy A; Cole, Nicholas J; Yerbury, Justin J; Atkin, Julie D; Shaw, Christopher E; Nicholson, Garth A; Blair, Ian P

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquitinated protein aggregates, of which TDP-43 is a major component, are a characteristic pathological feature of most ALS and FTD patients. Here we use genome-wide linkage analysis in a large ALS/FTD kindred to identify a novel disease locus on chromosome 16p13.3. Whole-exome sequencing identified a CCNF missense mutation at this locus. Interrogation of international cohorts identified additional novel CCNF variants in familial and sporadic ALS and FTD. Enrichment of rare protein-altering CCNF variants was evident in a large sporadic ALS replication cohort. CCNF encodes cyclin F, a component of an E3 ubiquitin-protein ligase complex (SCF(Cyclin F)). Expression of mutant CCNF in neuronal cells caused abnormal ubiquitination and accumulation of ubiquitinated proteins, including TDP-43 and a SCF(Cyclin F) substrate. This implicates common mechanisms, linked to protein homeostasis, underlying neuronal degeneration. PMID:27080313

  9. Infrastructure resources for clinical research in amyotrophic lateral sclerosis.

    PubMed

    Sherman, Alexander V; Gubitz, Amelie K; Al-Chalabi, Ammar; Bedlack, Richard; Berry, James; Conwit, Robin; Harris, Brent T; Horton, D Kevin; Kaufmann, Petra; Leitner, Melanie L; Miller, Robert; Shefner, Jeremy; Vonsattel, Jean Paul; Mitsumoto, Hiroshi

    2013-05-01

    Clinical trial networks, shared clinical databases, and human biospecimen repositories are examples of infrastructure resources aimed at enhancing and expediting clinical and/or patient oriented research to uncover the etiology and pathogenesis of amyotrophic lateral sclerosis (ALS), a rapidly progressive neurodegenerative disease that leads to the paralysis of voluntary muscles. The current status of such infrastructure resources, as well as opportunities and impediments, were discussed at the second Tarrytown ALS meeting held in September 2011. The discussion focused on resources developed and maintained by ALS clinics and centers in North America and Europe, various clinical trial networks, U.S. government federal agencies including the National Institutes of Health (NIH), the Agency for Toxic Substances and Disease Registry (ATSDR) and the Centers for Disease Control and Prevention (CDC), and several voluntary disease organizations that support ALS research activities. Key recommendations included 1) the establishment of shared databases among individual ALS clinics to enhance the coordination of resources and data analyses; 2) the expansion of quality-controlled human biospecimen banks; and 3) the adoption of uniform data standards, such as the recently developed Common Data Elements (CDEs) for ALS clinical research. The value of clinical trial networks such as the Northeast ALS (NEALS) Consortium and the Western ALS (WALS) Consortium was recognized, and strategies to further enhance and complement these networks and their research resources were discussed.

  10. Black hairy tongue in a patient with amyotrophic lateral sclerosis.

    PubMed

    Erriu, Matteo; Pili, Francesca Maria Giovanna; Denotti, Gloria; Garau, Valentino

    2016-01-01

    Black hairy tongue (BHT) is a condition characterized by the elongation of filiform papillae associated with a marked discoloration, from yellowish-brown to black, and a thick lingual coating. BHT is usually observed in the elderly and in patients with limited self-sufficiency, as a consequence of poor oral hygiene. In this perspective, the patients affected by amyotrophic lateral sclerosis (ALS) represent a high-risk category for the occurrence of BHT. The fast and inexorable loss of their self-sufficiency due to progressive muscle atrophy as well as the impropriate education of healthcare assistants have demonstrated to have significant reflection on the maintenance of an adequate standard of oral hygiene. This paper firstly described a case of BHT in a patient affected by ALS. A case of BHT in a patient (Caucasic, male, 63 years old) affected by ALS was described. The primary goal of the work was to teach and motivate the patient to the use of the tongue cleaner in association with the local application of chlorexidine 0.20%. Furthermore, in order to support the patient with accurate domiciliary oral hygiene, a proper training for his health-care assistant was provided. The maintenance of the oral health of ALS patient is fundamental to prevent systemic complications that could jeopardize the already fragile physical balance of these patients. The dedicated monitoring by a dentist or a dental hygienist would seem essential in order to achieve this objective. PMID:27011938

  11. Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis

    PubMed Central

    Daneshjou, Roxana; Gitler, Aaron D.

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in progressive degeneration of motor neurons, ultimately leading to paralysis and death. Approximately 10% of ALS cases are familial, with the remaining 90% of cases being sporadic. Genetic studies in familial cases of ALS have been extremely informative in determining the causative mutations behind ALS, especially as the same mutations identified in familial ALS can also cause sporadic disease. However, the cause of ALS in approximately 30% of familial cases and in the majority of sporadic cases remains unknown. Sporadic ALS cases represent an underutilized resource for genetic information about ALS; therefore, we undertook a targeted sequencing approach of 169 known and candidate ALS disease genes in 242 sporadic ALS cases and 129 matched controls to try to identify novel variants linked to ALS. We found a significant enrichment in novel and rare variants in cases versus controls, indicating that we are likely identifying disease associated mutations. This study highlights the utility of next generation sequencing techniques combined with functional studies and rare variant analysis tools to provide insight into the genetic etiology of a heterogeneous sporadic disease. PMID:25299611

  12. The split hand syndrome in amyotrophic lateral sclerosis.

    PubMed

    Eisen, Andrew; Kuwabara, Satoshi

    2012-04-01

    In amyotrophic lateral sclerosis (ALS), hand muscle wasting preferentially affects the 'thenar (lateral) hand', including the abductor pollicis brevis (APB) and first dorsal interosseous (FDI) muscles, with relative sparing of the hypothenar muscles (the abductor digiti minimi (ADM)). This peculiar pattern of dissociated atrophy of the intrinsic hand muscles is termed the 'split hand' and is rarely seen in diseases other than ALS. The muscles involved in the split hand are innervated through the same spinal segments (C8 and T1), and FDI and ADM, which are differentially affected, are both ulnar nerve innervated. The physiological mechanisms underlying the split hand in ALS are incompletely understood but both cortical and spinal/peripheral mechanisms are probably involved. Motor potentials evoked by magnetic stimulation are significantly smaller when recorded from the thenar complex, compared with the hypothenar muscles, supporting a cortical mechanism. But peripheral axonal excitability studies have suggested that APB/FDI motor axons have more prominent persistent sodium currents than ADM axons, leading to higher axonal excitability and thereby more ready degeneration. Pincer or precision grip is vital to human hand function, and frequent use of thenar complex muscles may lead to greater oxidative stress and metabolic demands at both upper and lower motoneurons innervating the APB and FDI. The split hand is a useful diagnostic sign in early ALS, and recent objective studies indicate that the sign has a high degree of specificity.

  13. Progress in therapy development for amyotrophic lateral sclerosis.

    PubMed

    Venkova-Hristova, Kalina; Christov, Alexandar; Kamaluddin, Zarine; Kobalka, Peter; Hensley, Kenneth

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that cannot be slowed substantially using any currently-available clinical tools. Through decades of studying sporadic and familial ALS (SALS and FALS), researchers are coming to understand ALS as a complex syndrome with diverse genetic and environmental etiologies. It is know appreciated that motor neuron degeneration in ALS requires active (gain of function) and passive (loss of function) events to occur in non-neuronal cells, especially astrocytes and microglia. These neuroinflammatory processes produce paracrine factors that detrimentally affect motor neurons, precipitating protein aggregation and compromising cytoskeletal integrity. The result is a loss of neuronal homeostasis and progressive die-back of motor axons culminating in death of the afflicted motor neurons. This review will discuss experimental therapeutics that have been tested in murine ALS models, with an emphasis on those that have progressed to human clinical trials. Reasons will be considered for the frequent failure of preclinical successes to translate into positive clinical outcomes. Finally, this review will explore current trends in experimental therapeutics for ALS with emphasis on the emerging interest in axon guidance signaling pathways as novel targets for pharmacological support of neural cytoskeletal structure and function in order to slow ALS.

  14. Progress in Therapy Development for Amyotrophic Lateral Sclerosis

    PubMed Central

    Venkova-Hristova, Kalina; Christov, Alexandar; Kamaluddin, Zarine; Kobalka, Peter; Hensley, Kenneth

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that cannot be slowed substantially using any currently-available clinical tools. Through decades of studying sporadic and familial ALS (SALS and FALS), researchers are coming to understand ALS as a complex syndrome with diverse genetic and environmental etiologies. It is know appreciated that motor neuron degeneration in ALS requires active (gain of function) and passive (loss of function) events to occur in non-neuronal cells, especially astrocytes and microglia. These neuroinflammatory processes produce paracrine factors that detrimentally affect motor neurons, precipitating protein aggregation and compromising cytoskeletal integrity. The result is a loss of neuronal homeostasis and progressive die-back of motor axons culminating in death of the afflicted motor neurons. This review will discuss experimental therapeutics that have been tested in murine ALS models, with an emphasis on those that have progressed to human clinical trials. Reasons will be considered for the frequent failure of preclinical successes to translate into positive clinical outcomes. Finally, this review will explore current trends in experimental therapeutics for ALS with emphasis on the emerging interest in axon guidance signaling pathways as novel targets for pharmacological support of neural cytoskeletal structure and function in order to slow ALS. PMID:22830014

  15. TDP-43 plasma levels are higher in amyotrophic lateral sclerosis.

    PubMed

    Verstraete, Esther; Kuiperij, H Bea; van Blitterswijk, Marka M; Veldink, Jan H; Schelhaas, H Jurgen; van den Berg, Leonard H; Verbeek, Marcel M

    2012-09-01

    Our objective was to investigate TDP-43 plasma levels in patients with amyotrophic lateral sclerosis (ALS). TDP-43 has been identified as a major component of protein inclusions in the brain of patients with ALS; mutations in the corresponding gene (TARDBP) have also been identified. Although increased TDP-43 levels have been reported in the cerebrospinal fluid, plasma levels have not yet been assessed in patients with ALS. TDP-43 levels were quantified by sandwich ELISA in plasma of 219 patients and 100 controls. In addition, we sequenced exon 6 of TARDBP, and performed longitudinal TDP-43 plasma measurements in a subset of patients. Results showed that TDP-43 plasma levels were significantly increased in patients with ALS (p=0.023) and we found a positive correlation with age in patients and controls. Longitudinal measurements of TDP-43 plasma levels showed an increase in only one patient, with stable levels in five others. Three TARDBP variations were identified in the ALS group (1.7%), but the association with TDP-43 plasma levels was ambiguous. In conclusion, our data indicate that TDP-43 plasma levels may have potential as a marker for ALS. A genotype-phenotype relationship could not, however, be established in this cohort.

  16. [New biological and radiological markers in amyotrophic lateral sclerosis].

    PubMed

    Pradat, Pierre-François

    2009-12-01

    The only specific marker of sporadic amyotrophic lateral sclerosis (ALS), that represent about 90% of all cases, is neuropathological and based on the demonstration of motoneuronal degeneration associated with typical inclusions positive for ubiquitine and TDP-43. The gene encoding the superoxide dismutase 1 (SOD1) is implicated in about 10-20% of familial ALS. A mutation in the SOD1 gene can be considered as a genetic marker of ALS, and not a polymorphism, if the mutation has been shown to be pathogenic or to segregate to the disease in familial cases. Studies in blood or cerebral spinal fluid have shown biological changes involving different physiopathological pathways (oxidative stress, inflammation, excitotoxicity...). These abnormalities are neither sensitive nor specific enough to provide a diagnostic tool. The ectopic expression of Nogo-A in muscle biopsy is a promising marker but further studies are needed to demonstrate its value as a diagnostic tool in ALS. Studies in series of ALS patients have shown that MR-spectroscopy and diffusion tensor imaging can detect cortico-spinal degeneration. However, because of an overlap between patients and normal subjects, spectroscopic and DTI-parameters cannot be used as diagnostic tool in individual patients. In the future, a combination of biological, radiological and electrophysiological markers, rather than a single marker, may provide diagnostic tool for the diagnosis and follow-up of ALS patients.

  17. Biomarkers in amyotrophic lateral sclerosis: facts and future horizons.

    PubMed

    Pradat, Pierre-François; Dib, Michel

    2009-01-01

    The only specific marker of sporadic amyotrophic lateral sclerosis (ALS) is neuropathologic, namely the presence of inclusions staining positively for ubiquitin and TAR DNA-binding protein (TARDBP, also known as TDP-43) in degenerating motor neurons. Abnormalities in various physiopathologic pathways associated with ALS, such as oxidative stress, inflammation, and excitotoxicity, have been reported in blood, cerebrospinal fluid, and muscle biopsies. A number of studies in ALS patients have indicated that nuclear magnetic resonance (NMR) spectroscopy and diffusion tensor magnetic resonance imaging (MRI) can detect corticospinal lesions. However, because of their relative lack of sensitivity and specificity, these techniques are currently inadequate for use as diagnostic tools in individual patients. Recently, there has been much interest in the use of high-throughput techniques such as transcriptomics, proteomics, and metabolomics for the detection of biomarkers. In the future, a combination of biologic, radiologic, and electrophysiologic markers, rather than a single marker, may prove a useful tool for the diagnosis and follow-up of ALS patients. This article provides an overview of recently described biologic and radiologic markers of the disease.

  18. The pre-clinical discovery of Amyotrophic Lateral Sclerosis Drugs

    PubMed Central

    Glicksman, Marcie A.

    2012-01-01

    Introduction Amyotrophic Lateral Sclerosis, also referred to as Lou Gehrig’s disease is characterized by the progressive loss of cells in the brain and spinal cord that leads to debilitation and death in 3–5 years. Only one therapeutic drug, Riluzole, has been approved for ALS and that drug improves survival by 2–3 months. The need for new therapeutics, either that can postpone or slow the progression of the motor deficits and prolong survival, is still a strong unmet medical need. Areas Covered Although there are a number of drugs currently in clinical trials for ALS, this review provides an overview of the most promising biological targets and preclinical strategies that are currently being developed and deployed. The list of targets for ALS was compiled from a variety of websites including: individual companies that have ALS programs, and the author’s experience. Expert Opinion Progress is being made in the identification of possible new therapeutics for ALS with recent efforts in: understanding the genetic causes of the disease, susceptibility factors, and the development of additional preclinical animal models. However, many challenges remain in the identification of new ALS therapeutics including: the use of relevant biomarkers, the need for earlier diagnosis of the disease, and additional animal models. Multiple strategies need to be tested, in the clinic, in order to determine what will be effective in patients. PMID:22646982

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

    PubMed Central

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

    2015-01-01

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

  20. Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.

    PubMed

    Piaceri, I; Del Mastio, M; Tedde, A; Bagnoli, S; Latorraca, S; Massaro, F; Paganini, M; Corrado, A; Sorbi, S; Nacmias, B

    2012-07-01

    Amyotrophic lateral sclerosis (ALS) is a rare and devastating neurodegenerative disorder. The majority of cases are sporadic ALS (SALS), with 5-10% being familial ALS (FALS), and are inherited mostly as autosomal dominant. Mutations in Cu/Zn superoxide dismutase (SOD1) and the TAR DNA-binding protein (TARDBP) gene are the most commonly known cause of ALS. We analyzed these genes in 61 Italian ALS patients using high-resolution melting analysis to confirm the role of SOD1 and TARDBP in the physiopathology of ALS. The screenings showed a single mutation in SOD1 (Asp109Tyr) and three in TARBDP (Ala382Thr, Gly295Ser, Gly294Val) in five unrelated ALS patients. This report enlarges the spectrum of clinical phenotypes associated with genetic mutations in SOD1 and TARDBP genes confirming the variability of phenotypes associated with the same mutation and emphasizes the importance of genetic analysis. The different genotype-phenotype correlations suggest the implication of other factors possibly influencing clinical manifestation of the disease, such as an epigenetic or epistatic effect with other genes not yet identified. PMID:21651514

  1. Roles of Vascular Endothelial Growth Factor in Amyotrophic Lateral Sclerosis

    PubMed Central

    Pronto-Laborinho, Ana Catarina; Pinto, Susana; de Carvalho, Mamede

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal devastating neurodegenerative disorder, involving progressive degeneration of motor neurons in spinal cord, brainstem, and motor cortex. Riluzole is the only drug approved in ALS but it only confers a modest improvement in survival. In spite of a high number of clinical trials no other drug has proved effectiveness. Recent studies support that vascular endothelial growth factor (VEGF), originally described as a key angiogenic factor, also plays a key role in the nervous system, including neurogenesis, neuronal survival, neuronal migration, and axon guidance. VEGF has been used in exploratory clinical studies with promising results in ALS and other neurological disorders. Although VEGF is a very promising compound, translating the basic science breakthroughs into clinical practice is the major challenge ahead. VEGF-B, presenting a single safety profile, protects motor neurons from degeneration in ALS animal models and, therefore, it will be particularly interesting to test its effects in ALS patients. In the present paper the authors make a brief description of the molecular properties of VEGF and its receptors and review its different features and therapeutic potential in the nervous system/neurodegenerative disease, particularly in ALS. PMID:24987705

  2. Roles of vascular endothelial growth factor in amyotrophic lateral sclerosis.

    PubMed

    Pronto-Laborinho, Ana Catarina; Pinto, Susana; de Carvalho, Mamede

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal devastating neurodegenerative disorder, involving progressive degeneration of motor neurons in spinal cord, brainstem, and motor cortex. Riluzole is the only drug approved in ALS but it only confers a modest improvement in survival. In spite of a high number of clinical trials no other drug has proved effectiveness. Recent studies support that vascular endothelial growth factor (VEGF), originally described as a key angiogenic factor, also plays a key role in the nervous system, including neurogenesis, neuronal survival, neuronal migration, and axon guidance. VEGF has been used in exploratory clinical studies with promising results in ALS and other neurological disorders. Although VEGF is a very promising compound, translating the basic science breakthroughs into clinical practice is the major challenge ahead. VEGF-B, presenting a single safety profile, protects motor neurons from degeneration in ALS animal models and, therefore, it will be particularly interesting to test its effects in ALS patients. In the present paper the authors make a brief description of the molecular properties of VEGF and its receptors and review its different features and therapeutic potential in the nervous system/neurodegenerative disease, particularly in ALS. PMID:24987705

  3. Action verb comprehension in amyotrophic lateral sclerosis and Parkinson's disease.

    PubMed

    York, Collin; Olm, Christopher; Boller, Ashley; McCluskey, Leo; Elman, Lauren; Haley, Jenna; Seltzer, Emily; Chahine, Lama; Woo, John; Rascovsky, Katya; McMillan, Corey; Grossman, Murray

    2014-06-01

    Patients with amyotrophic lateral sclerosis (ALS) have a motor disorder and cognitive difficulties, including difficulty with action verbs. However, the basis for the action verb impairment is unknown. Thirty-six participants with ALS and 22 with Parkinson's disease (PD) were assessed on a simple, two-alternative forced-choice associativity judgment task, where performance was untimed and did not depend on motor functioning. We probed 120 frequency-matched action verbs, cognition verbs, concrete nouns and abstract nouns. Performance was related to T1 MRI imaging of gray matter atrophy. Patients with ALS were significantly impaired relative to healthy senior control participants only for action verbs. Patients with PD did not differ from controls for all word categories. Regression analyses related action verb performance in ALS to motor-associated cortices, but action verb judgments in PD were not related to cortical atrophy. These findings are consistent with the hypothesis that action verb difficulty in ALS is related in part to the degradation of action-related conceptual knowledge represented in motor-associated cortex. PMID:24676939

  4. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

    PubMed

    Kenna, Kevin P; van Doormaal, Perry T C; Dekker, Annelot M; Ticozzi, Nicola; Kenna, Brendan J; Diekstra, Frank P; van Rheenen, Wouter; van Eijk, Kristel R; Jones, Ashley R; Keagle, Pamela; Shatunov, Aleksey; Sproviero, William; Smith, Bradley N; van Es, Michael A; Topp, Simon D; Kenna, Aoife; Miller, Jack W; Fallini, Claudia; Tiloca, Cinzia; McLaughlin, Russell L; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; Mora, Gabriele; Calvo, Andrea; Verde, Federico; Al-Sarraj, Safa; King, Andrew; Calini, Daniela; de Belleroche, Jacqueline; Baas, Frank; van der Kooi, Anneke J; de Visser, Marianne; Ten Asbroek, Anneloor L M A; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Muñoz-Blanco, José Luis; Strom, Tim M; Meitinger, Thomas; Morrison, Karen E; Lauria, Giuseppe; Williams, Kelly L; Leigh, P Nigel; Nicholson, Garth A; Blair, Ian P; Leblond, Claire S; Dion, Patrick A; Rouleau, Guy A; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Esteban-Pérez, Jesús; García-Redondo, Alberto; Van Damme, Phillip; Robberecht, Wim; Chio, Adriano; Gellera, Cinzia; Drepper, Carsten; Sendtner, Michael; Ratti, Antonia; Glass, Jonathan D; Mora, Jesús S; Basak, Nazli A; Hardiman, Orla; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Brown, Robert H; Al-Chalabi, Ammar; Silani, Vincenzo; Shaw, Christopher E; van den Berg, Leonard H; Veldink, Jan H; Landers, John E

    2016-09-01

    To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology. PMID:27455347

  5. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    PubMed Central

    Williams, Kelly L.; Topp, Simon; Yang, Shu; Smith, Bradley; Fifita, Jennifer A.; Warraich, Sadaf T.; Zhang, Katharine Y.; Farrawell, Natalie; Vance, Caroline; Hu, Xun; Chesi, Alessandra; Leblond, Claire S.; Lee, Albert; Rayner, Stephanie L.; Sundaramoorthy, Vinod; Dobson-Stone, Carol; Molloy, Mark P.; van Blitterswijk, Marka; Dickson, Dennis W.; Petersen, Ronald C.; Graff-Radford, Neill R.; Boeve, Bradley F.; Murray, Melissa E.; Pottier, Cyril; Don, Emily; Winnick, Claire; McCann, Emily P.; Hogan, Alison; Daoud, Hussein; Levert, Annie; Dion, Patrick A.; Mitsui, Jun; Ishiura, Hiroyuki; Takahashi, Yuji; Goto, Jun; Kost, Jason; Gellera, Cinzia; Gkazi, Athina Soragia; Miller, Jack; Stockton, Joanne; Brooks, William S.; Boundy, Karyn; Polak, Meraida; Muñoz-Blanco, José Luis; Esteban-Pérez, Jesús; Rábano, Alberto; Hardiman, Orla; Morrison, Karen E.; Ticozzi, Nicola; Silani, Vincenzo; de Belleroche, Jacqueline; Glass, Jonathan D.; Kwok, John B. J.; Guillemin, Gilles J.; Chung, Roger S.; Tsuji, Shoji; Brown, Robert H.; García-Redondo, Alberto; Rademakers, Rosa; Landers, John E.; Gitler, Aaron D.; Rouleau, Guy A.; Cole, Nicholas J.; Yerbury, Justin J.; Atkin, Julie D.; Shaw, Christopher E.; Nicholson, Garth A.; Blair, Ian P.

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquitinated protein aggregates, of which TDP-43 is a major component, are a characteristic pathological feature of most ALS and FTD patients. Here we use genome-wide linkage analysis in a large ALS/FTD kindred to identify a novel disease locus on chromosome 16p13.3. Whole-exome sequencing identified a CCNF missense mutation at this locus. Interrogation of international cohorts identified additional novel CCNF variants in familial and sporadic ALS and FTD. Enrichment of rare protein-altering CCNF variants was evident in a large sporadic ALS replication cohort. CCNF encodes cyclin F, a component of an E3 ubiquitin–protein ligase complex (SCFCyclin F). Expression of mutant CCNF in neuronal cells caused abnormal ubiquitination and accumulation of ubiquitinated proteins, including TDP-43 and a SCFCyclin F substrate. This implicates common mechanisms, linked to protein homeostasis, underlying neuronal degeneration. PMID:27080313

  6. Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis.

    PubMed

    Manfredi, Giovanni; Kawamata, Hibiki

    2016-06-01

    Physical and functional interactions between mitochondria and the endoplasmic reticulum (ER) are crucial for cell life. These two organelles are intimately connected and collaborate to essential processes, such as calcium homeostasis and phospholipid biosynthesis. The connections between mitochondria and endoplasmic reticulum occur through structures named mitochondria associated membranes (MAMs), which contain lipid rafts and a large number of proteins, many of which serve multiple functions at different cellular sites. Growing evidence strongly suggests that alterations of ER-mitochondria interactions are involved in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), a devastating and rapidly fatal motor neuron disease. Mutations in proteins that participate in ER-mitochondria interactions and MAM functions are increasingly being associated with genetic forms of ALS and other neurodegenerative diseases. This evidence strongly suggests that, rather than considering the two organelles separately, a better understanding of the disease process can derive from studying the alterations in their crosstalk. In this review we discuss normal and pathological ER-mitochondria interactions and the evidence that link them to ALS.

  7. 25 years of neuroimaging in amyotrophic lateral sclerosis

    PubMed Central

    Foerster, Bradley R.; Welsh, Robert C.; Feldman, Eva L.

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease for which a precise cause has not yet been identified. Standard CT or MRI evaluation does not demonstrate gross structural nervous system changes in ALS, so conventional neuroimaging techniques have provided little insight into the pathophysiology of this disease. Advanced neuroimaging techniques—such as structural MRI, diffusion tensor imaging and proton magnetic resonance spectroscopy—allow evaluation of alterations of the nervous system in ALS. These alterations include focal loss of grey and white matter and reductions in white matter tract integrity, as well as changes in neural networks and in the chemistry, metabolism and receptor distribution in the brain. Given their potential for investigation of both brain structure and function, advanced neuroimaging methods offer important opportunities to improve diagnosis, guide prognosis, and direct future treatment strategies in ALS. In this article, we review the contributions made by various advanced neuroimaging techniques to our understanding of the impact of ALS on different brain regions, and the potential role of such measures in biomarker development. PMID:23917850

  8. Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

    PubMed Central

    Finsterer, Josef; Zarrouk-Mahjoub, Sinda

    2016-01-01

    Similarities between a mitochondrial disorder (MID) and amyotrophic lateral sclerosis (ALS) fade with disease progression and the development of mitochondrial multiple organ dysfunction syndrome (MIMODS). However, with mild MIMODS, a MID may still be misinterpreted as ALS. We report a 48-year-old male who presented to the Neurological Hospital Rosenhügel, Vienna, Austria, in February 2001 with slowly progressive weakness, wasting and left upper limb fasciculations which spread to the shoulder girdle and lower limbs. Additionally, he developed tetraspasticity and bulbar involvement. He had been diagnosed with ALS a year previously due to electrophysiological investigations indicative of a chronic neurogenic lesion. However, a muscle biopsy revealed morphological features of a MID and a combined complex-II/III defect. Nerve conduction studies were performed over subsequent years until February 2011. This case demonstrates that MIDs may mimic ALS at onset and begin as a mono-organ disorder but develop into a multi-organ disease with long-term progression. A combined complex II/III defect may manifest with bulbar involvement. PMID:26909222

  9. Redox Modifier Genes and Pathways in Amyotrophic Lateral Sclerosis

    PubMed Central

    Carter, Barrie J.; Anklesaria, Pervin; Choi, Stephanie

    2009-01-01

    Abstract Enhanced redox-stress caused by neuroinflammation, mitochondria, and NADPH oxidases has been hypothesized to play critical roles in disease progression of amyotrophic lateral sclerosis (ALS). However, distinguishing whether the redox-stress observed in ALS is due to a primary defect in cellular reactive oxygen species metabolism/catabolism, or is a secondary consequence of neuroinflammation, has been difficult and the issue remains a matter of debate. Emerging evidence suggests that defects in genes that regulate NADPH oxidases may account for at least some forms of ALS. NADPH oxidases are key signaling complexes that influence cellular responses to growth factors and cytokines. In this context, NADPH oxidase-derived reactive oxygen species exert spatial control over the redox-dependent activation of certain pro-inflammatory receptors. Understanding the biology of how NADPH oxidases control cell signaling may help to clarify how genetic determinants of ALS lead to dysregulated pro-inflammatory signaling. This review provides a framework for understanding endosomal signaling through NADPH oxidases and potential mechanisms whereby gene defects in various forms of ALS may influence this cellular process and lead to motor neuron degeneration. Lastly, this review discusses past and current efforts to treat ALS using antioxidant therapies, as well as the limitations and advantages of each of these approaches. Antioxid. Redox Signal. 11, 1569–1586. PMID:19187001

  10. Dissection of genetic factors associated with amyotrophic lateral sclerosis.

    PubMed

    Leblond, Claire S; Kaneb, Hannah M; Dion, Patrick A; Rouleau, Guy A

    2014-12-01

    Amyotrophic lateral sclerosis (ALS) is a fatal late onset neurological disorder characterized by motor neuron degeneration in the primary motor cortex, brainstem and spinal cord. The majority of cases are sporadic (SALS) and only 5-10% have a family history (FALS). FALS cases show a high heritability and this has enabled the identification of several genetic triggers, of which mutations in SOD1, FUS, TARDBP and C9ORF72 are the most frequent. While such advances have contributed to our current understanding of the causes of most cases of FALS and their underlying pathophysiological consequences, they only explain a small fraction of SALS with the etiology of most SALS cases remaining unexplained. Here, we review past and current methods used for the identification of FALS and SALS associated genes and propose a risk-based classification for these. We also discuss how the growing number of whole exome/genome sequencing datasets prepared from SALS cases, and control individuals, may reveal novel insights into the genetic etiology of SALS; for instance through revealing increased mutation burden rates across genes or genomic regions that were not previously associated with ALS or through allowing the examination of a potential "oligogenic" mechanism of the disease. Finally we summarize the three most recently discovered 'high risk' genes in ALS.

  11. Biomarkers in amyotrophic lateral sclerosis: facts and future horizons.

    PubMed

    Pradat, Pierre-François; Dib, Michel

    2009-01-01

    The only specific marker of sporadic amyotrophic lateral sclerosis (ALS) is neuropathologic, namely the presence of inclusions staining positively for ubiquitin and TAR DNA-binding protein (TARDBP, also known as TDP-43) in degenerating motor neurons. Abnormalities in various physiopathologic pathways associated with ALS, such as oxidative stress, inflammation, and excitotoxicity, have been reported in blood, cerebrospinal fluid, and muscle biopsies. A number of studies in ALS patients have indicated that nuclear magnetic resonance (NMR) spectroscopy and diffusion tensor magnetic resonance imaging (MRI) can detect corticospinal lesions. However, because of their relative lack of sensitivity and specificity, these techniques are currently inadequate for use as diagnostic tools in individual patients. Recently, there has been much interest in the use of high-throughput techniques such as transcriptomics, proteomics, and metabolomics for the detection of biomarkers. In the future, a combination of biologic, radiologic, and electrophysiologic markers, rather than a single marker, may prove a useful tool for the diagnosis and follow-up of ALS patients. This article provides an overview of recently described biologic and radiologic markers of the disease. PMID:19537846

  12. Longitudinal changes in discourse production in amyotrophic lateral sclerosis.

    PubMed

    Roberts-South, Angela; Findlater, Kate; Strong, Michael J; Orange, J B

    2012-02-01

    Amyotrophic lateral sclerosis (ALS) is a multisystem disease that significantly impacts communication as a function of changes in motor speech, cognition, and language skills. Although discourse tasks have been used to assess language in a variety of acquired disorders, little work to date has been published on changes in discourse in ALS and even less work has evaluated these changes with disease progression. In the present study, discourse samples (gained from a picture description task) as well as standardized language test measures obtained from 16 individuals with ALS without dementia and 12 healthy controls (collected over a duration of 24 months). Discourse samples were analyzed for both productivity and content. Results indicate that there were no differences for ALS versus controls for any of the standardized language tests. However, findings suggest that discourse analysis methods may be more sensitive for identifying subtle language deficits in ALS. Overall, discourse productivity appears less impaired than discourse content for individuals with ALS. Although there was a general trend for decline in language performance over the study duration, there was the suggestion of subgroups of language performance among ALS participants. The results suggest that subtle cognitive language deficits that affect discourse emerge early in ALS and progress with disease progression.

  13. Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights.

    PubMed

    Vucic, Steve; Ziemann, Ulf; Eisen, Andrew; Hallett, Mark; Kiernan, Matthew C

    2013-10-01

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder of the motor neurons in the motor cortex, brainstem and spinal cord. A combination of upper and lower motor neuron dysfunction comprises the clinical ALS phenotype. Although the ALS phenotype was first observed by Charcot over 100 years ago, the site of ALS onset and the pathophysiological mechanisms underlying the development of motor neuron degeneration remain to be elucidated. Transcranial magnetic stimulation (TMS) enables non-invasive assessment of the functional integrity of the motor cortex and its corticomotoneuronal projections. To date, TMS studies have established motor cortical and corticospinal dysfunction in ALS, with cortical hyperexcitability being an early feature in sporadic forms of ALS and preceding the clinical onset of familial ALS. Taken together, a central origin of ALS is supported by TMS studies, with an anterograde transsynaptic mechanism implicated in ALS pathogenesis. Of further relevance, TMS techniques reliably distinguish ALS from mimic disorders, despite a compatible peripheral disease burden, thereby suggesting a potential diagnostic utility of TMS in ALS. This review will focus on the mechanisms underlying the generation of TMS measures used in assessment of cortical excitability, the contribution of TMS in enhancing the understanding of ALS pathophysiology and the potential diagnostic utility of TMS techniques in ALS. PMID:23264687

  14. A(a)LS: Ammonia-induced amyotrophic lateral sclerosis

    PubMed Central

    Parekh, Bhavin

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a dreadful, devastating and incurable motor neuron disease. Aetiologically, it is a multigenic, multifactorial and multiorgan disease. Despite intense research, ALS pathology remains unexplained. Following extensive literature review, this paper posits a new integrative explanation. This framework proposes that ammonia neurotoxicity is a main player in ALS pathogenesis. According to this explanation, a combination of impaired ammonia removal— mainly because of impaired hepatic urea cycle dysfunction—and increased ammoniagenesis— mainly because of impaired glycolytic metabolism in fast twitch skeletal muscle—causes chronic hyperammonia in ALS. In the absence of neuroprotective calcium binding proteins (calbindin, calreticulin and parvalbumin), elevated ammonia—a neurotoxin—damages motor neurons. Ammonia-induced motor neuron damage occurs through multiple mechanisms such as macroautophagy-endolysosomal impairment, endoplasmic reticulum (ER) stress, CDK5 activation, oxidative/nitrosative stress, neuronal hyperexcitability and neuroinflammation. Furthermore, the regional pattern of calcium binding proteins’ loss, owing to either ER stress and/or impaired oxidative metabolism, determines clinical variability of ALS. Most importantly, this new framework can be generalised to explain other neurodegenerative disorders such as Huntington’s disease and Parkinsonism.

  15. Amyotrophic lateral sclerosis: moving towards a new classification system.

    PubMed

    Al-Chalabi, Ammar; Hardiman, Orla; Kiernan, Matthew C; Chiò, Adriano; Rix-Brooks, Benjamin; van den Berg, Leonard H

    2016-10-01

    Amyotrophic lateral sclerosis is a progressive adult-onset neurodegenerative disease that primarily affects upper and lower motor neurons, but also frontotemporal and other regions of the brain. The extent to which each neuronal population is affected varies between individuals. The subsequent patterns of disease progression form the basis of diagnostic criteria and phenotypic classification systems, with considerable overlap in the clinical terms used. This overlap can lead to confusion between diagnosis and phenotype. Formal classification systems such as the El Escorial criteria and the International Classification of Diseases are systematic approaches but they omit features that are important in clinical management, such as rate of progression, genetic basis, or functional effect. Therefore, many neurologists use informal classification approaches that might not be systematic, and could include, for example, anatomical descriptions such as flail-arm syndrome. A new strategy is needed to combine the benefits of a systematic approach to classification with the rich and varied phenotypic descriptions used in clinical practice. PMID:27647646

  16. The Puzzling Case of Hyperexcitability in Amyotrophic Lateral Sclerosis

    PubMed Central

    Bae, Jong Seok; Simon, Neil G.; Menon, Parvathi; Vucic, Steve

    2013-01-01

    The development of hyperexcitability in amyotrophic lateral sclerosis (ALS) is a well-known phenomenon. Despite controversy as to the underlying mechanisms, cortical hyperexcitability appears to be closely related to the interplay between excitatory corticomotoneurons and inhibitory interneurons. Hyperexcitability is not a static phenomenon but rather shows a pattern of progression in a spatiotemporal aspect. Cortical hyperexcitability may serve as a trigger to the development of anterior horn cell degeneration through a 'dying forward' process. Hyperexcitability appears to develop during the early disease stages and gradually disappears in the advanced stages of the disease, linked to the destruction of corticomotorneuronal pathways. As such, a more precise interpretation of these unique processes may provide new insight regarding the pathophysiology of ALS and its clinical features. Recently developed technologies such as threshold tracking transcranial magnetic stimulation and automated nerve excitability tests have provided some clues about underlying pathophysiological processes linked to hyperexcitability. Additionally, these novel techniques have enabled clinicians to use the specific finding of hyperexcitability as a useful diagnostic biomarker, enabling clarification of various ALS-mimic syndromes, and the prediction of disease development in pre-symptomatic carriers of familial ALS. In terms of nerve excitability tests for peripheral nerves, an increase in persistent Na+ conductances has been identified as a major determinant of peripheral hyperexcitability in ALS, inversely correlated with the survival in ALS. As such, the present Review will focus primarily on the puzzling theory of hyperexcitability in ALS and summarize clinical and pathophysiological implications for current and future ALS research. PMID:23626643

  17. Therapeutic progress in amyotrophic lateral sclerosis-beginning to learning.

    PubMed

    Kumar, Vijay; Islam, Asimul; Hassan, Md Imtaiyaz; Ahmad, Faizan

    2016-10-01

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with motor neuron degeneration, muscle weakness, paralysis and finally death. The proposed mechanisms of ALS include glutamate excitotoxicity, oxidative stress, inflammation, mitochondrial dysfunction, apoptosis and proteasomal dysfunction. Although numerous pathological mechanisms have been explained, ALS remains incurable disease because of failure of clinical trials and lack of any effective therapy. The rapid advancement in genetic discoveries in ALS emphasizes the point that ALS is a multi-subtype syndrome rather than a single disease. This can be argued as one of the single reason why many previous therapeutic drug trials have failed. Efforts to develop novel ALS treatments which target specific pathomechanisms are currently being pursued. Herein, we review the recent discovery and preclinical characterization of neuroprotective compounds and compare their effects on disease onset, duration and survival. Furthermore, the structure-activity relationships of these agents are analyzed with the overall goal of developing a screening strategy for future clinical applications. PMID:27372371

  18. Acceptance of brain-computer interfaces in amyotrophic lateral sclerosis.

    PubMed

    Geronimo, Andrew; Stephens, Helen E; Schiff, Steven J; Simmons, Zachary

    2015-06-01

    Brain-computer interfaces (BCI) have the potential to permit patients with amyotrophic lateral sclerosis (ALS) to communicate even when locked in. Although as many as half of patients with ALS develop cognitive or behavioral dysfunction, the impact of these factors on acceptance of and ability to use a BCI has not been studied. We surveyed patients with ALS and their caregivers about BCIs used as assistive communication tools. The survey focused on the features of a BCI system, the desired end-use functions, and requirements. Functional, cognitive, and behavioral data were collected from patients and analyzed for their influence over decisions about BCI device use. Results showed that behavioral impairment was associated with decreased receptivity to the use of BCI technology. In addition, the operation of a BCI system during a pilot study altered patients' opinions of the utility of the system, generally in line with their perceived performance at controlling the device. In conclusion, these two findings have implications for the engineering design and clinical care phases of assistive device deployment.

  19. Identification of new mutations in familial amyotrophic lateral sclerosis

    SciTech Connect

    Siddique, T.; Deng, H.X.; Hentati, A.

    1994-09-01

    Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disease due to motor neuron death in the cortex, brain stem and spinal cord. Ten percent of ALS cases are familial (FALS). Previously a subset of FALS families have been mapped to chromosome 21 and mutations in the Cu,Zn superoxide dismutase gene have been identified in those families. Nineteen different mutations at 16 distinct codons have been documented, of which 12 different mutations were identified in our 29 FALS families. These mutations account for about twenty percent of all FALS families screened. The mutations identified in our FALS families are A4V, A4T, G37R, G41D, H43R, G85R, G93A, E100G, L106V, I113T, L144F, and V148G. Mutation A4V is the most frequent one which occurred in 14 out of our 29 FALS families. In further screening of our FALS families, two new mutations, V14M and L84V, have been identified. Thus a total of 21 different mutations at 18 distinct codon sites have been identified in SOD1.

  20. Endocannabinoids in Multiple Sclerosis and Amyotrophic Lateral Sclerosis.

    PubMed

    Pryce, Gareth; Baker, David

    2015-01-01

    There are numerous reports that people with multiple sclerosis (MS) have for many years been self-medicating with illegal street cannabis or more recently medicinal cannabis to alleviate the symptoms associated with MS and also amyotrophic lateral sclerosis (ALS). These anecdotal reports have been confirmed by data from animal models and more recently clinical trials on the ability of cannabinoids to alleviate limb spasticity, a common feature of progressive MS (and also ALS) and neurodegeneration. Experimental studies into the biology of the endocannabinoid system have revealed that cannabinoids have efficacy, not only in symptom relief but also as neuroprotective agents which may slow disease progression and thus delay the onset of symptoms. This review discusses what we now know about the endocannabinoid system as it relates to MS and ALS and also the therapeutic potential of cannabinoid therapeutics as disease-modifying or symptom control agents, as well as future therapeutic strategies including the potential for slowing disease progression in MS and ALS.

  1. Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis.

    PubMed

    Nardone, Raffaele; Höller, Yvonne; Taylor, Alexandra C; Lochner, Piergiorgio; Tezzon, Frediano; Golaszewski, Stefan; Brigo, Francesco; Trinka, Eugen

    2016-02-01

    Canine degenerative myelopathy (CDM) represents a unique naturally occurring animal model for human amyotrophic lateral sclerosis (ALS) because of similar clinical signs, neuropathologic findings, and involvement of the superoxide dismutase 1 (SOD1) mutation. A definitive diagnosis can only be made postmortem through microscopic detection of axonal degeneration, demyelination and astroglial proliferation, which is more severe in the dorsal columns of the thoracic spinal cord and in the dorsal portion of the lateral funiculus. Interestingly, the muscle acetylcholine receptor complexes are intact in CDM prior to functional impairment, thus suggesting that muscle atrophy in CDM does not result from physical denervation. Moreover, since sensory involvement seems to play an important role in CDM progression, a more careful investigation of the sensory pathology in ALS is also warranted. The importance of SOD1 expression remains unclear, while oxidative stress and denatured ubiquinated proteins appear to play a crucial role in the pathogenesis of CDM. In this updated narrative review we performed a systematic search of the published studies on CDM that may shed light on the pathophysiological mechanisms of human ALS. A better understanding of the factors that determine the disease progression in CDM may be beneficial for the development of effective treatments for ALS.

  2. Ethical considerations in the management of amyotrophic lateral sclerosis.

    PubMed

    Eisen, Andrew; Krieger, Charles

    2013-11-01

    This article examines some of the ethical concerns relevant for the management of amyotrophic lateral sclerosis (ALS). We emphasize the importance for providing a competent assessment of the clinical deficit to correctly identify the disease and to avoid incorrect diagnoses. Conveying the diagnosis to the patient and their family requires empathy and it is important to remain supportive and positive, even in the face of this incurable disease. The essence of care in ALS is to permit the patient to have optimal function for their level of ability. This may require the use of gastrostomy and non-invasive or permanent ventilation. Employment of a multi-disciplinary team will permit optimization of patient care to achieve a good quality of life for as long as possible. The patient should also be informed of the risks associated with unproven therapies and the risks and potential benefits of therapeutic trials. The wishes of patients in regard to gastrostomy, long-term ventilation and end-of life decisions must be considered in an unbiased fashion. Recent advances in the genetics of familial ALS (FALS) have demonstrated some overlap between FALS, sporadic ALS and fronto-temporal lobar dementia (FTLD). The interpretation and dissemination of the results of genetic testing although important can induce confusion, considerable anxiety and guilt in patients and their families and proper counseling is imperative.

  3. The predictors of survival in Chinese amyotrophic lateral sclerosis patients.

    PubMed

    Wei, Qianqian; Chen, Xueping; Zheng, Zhenzhen; Guo, Xiaoyan; Huang, Rui; Cao, Bei; Zeng, Yan; Shang, Huifang

    2015-06-01

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease, so it is important to explore the survival factors for ALS. Our aim was to evaluate the predictors of survival in Chinese ALS patients. A total of 1049 sporadic ALS patients were enrolled. Kaplan-Meier curves were used to compare survival time. Cox proportional hazards function and the hazard ratio were used to identify adjusted prognostic predictors. Results showed that the mean age of onset was 52.6 ± 12.0 years. During follow-up, 155 patients (14.8%) were lost and 378 patients were deceased. Median survival was 33 months for the deceased patients. In the adjusted Cox proportional hazard model, age of onset, diagnosis delay, rate of disease progression, and non-invasive positive pressure ventilation (NIPPV) treatment had an effect on survival in ALS. In conclusion, our study provides information on survival factors for Chinese ALS patients. Although the onset age of Chinese ALS patients is earlier than that of Caucasian patients, survival factors, including the age of onset, diagnostic delay, rate of disease progression, and NIPPV treatment, are similar.

  4. Role of autophagy in the pathogenesis of amyotrophic lateral sclerosis.

    PubMed

    Lee, Jae Keun; Shin, Jin Hee; Lee, Ji Eun; Choi, Eui-Ju

    2015-11-01

    Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disease characterized by the selective degeneration of upper and lower motor neurons associated with the abnormal aggregation of ubiquitinated proteins. The molecular mechanisms underlying the pathogenesis of ALS remain unclear, however. Autophagy is a major pathway for the elimination of protein aggregates and damaged organelles and therefore contributes to cellular homeostasis. This catabolic process begins with the formation of the double membrane-bound autophagosome that engulfs portions of the cytoplasm and subsequently fuses with a lysosome to form an autolysosome, in which lysosomal enzymes digest autophagic substrates. Defects at various stages of autophagy have been associated with pathological mutations of several ALS-linked genes including SOD1, p62, TDP-43, and optineurin, suggesting that such defects may play a causative role in the pathogenesis of this condition. In this review, we summarize the dysregulation of autophagy associated with ALS as well as potential therapeutic strategies based on modulation of the autophagic process. PMID:26264610

  5. Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers.

    PubMed

    Freischmidt, Axel; Müller, Kathrin; Zondler, Lisa; Weydt, Patrick; Volk, Alexander E; Božič, Anže Lošdorfer; Walter, Michael; Bonin, Michael; Mayer, Benjamin; von Arnim, Christine A F; Otto, Markus; Dieterich, Christoph; Holzmann, Karlheinz; Andersen, Peter M; Ludolph, Albert C; Danzer, Karin M; Weishaupt, Jochen H

    2014-11-01

    Knowledge about the nature of pathomolecular alterations preceding onset of symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave the way for the discovery of valuable therapeutic targets but might also govern future concepts of pre-manifest disease modifying treatments. MicroRNAs are central regulators of transcriptome plasticity and participate in pathogenic cascades and/or mirror cellular adaptation to insults. We obtained comprehensive expression profiles of microRNAs in the serum of patients with familial amyotrophic lateral sclerosis, asymptomatic mutation carriers and healthy control subjects. We observed a strikingly homogenous microRNA profile in patients with familial amyotrophic lateral sclerosis that was largely independent from the underlying disease gene. Moreover, we identified 24 significantly downregulated microRNAs in pre-manifest amyotrophic lateral sclerosis mutation carriers up to two decades or more before the estimated time window of disease onset; 91.7% of the downregulated microRNAs in mutation carriers overlapped with the patients with familial amyotrophic lateral sclerosis. Bioinformatic analysis revealed a consensus sequence motif present in the vast majority of downregulated microRNAs identified in this study. Our data thus suggest specific common denominators regarding molecular pathogenesis of different amyotrophic lateral sclerosis genes. We describe the earliest pathomolecular alterations in amyotrophic lateral sclerosis mutation carriers known to date, which provide a basis for the discovery of novel therapeutic targets and strongly argue for studies evaluating presymptomatic disease-modifying treatment in amyotrophic lateral sclerosis.

  6. Assessment of variation in depth of brachial plexus using ultrasound for supraclavicular brachial plexus block in patients undergoing elective upper limb surgery

    PubMed Central

    Mistry, Tuhin; Mangal, Vandana; Sharma, Gaurav; Agrawal, Aachu

    2016-01-01

    Background and Aims: Supraclavicular approach to the brachial plexus may be associated with complications such as pneumothorax, inadvertent vascular puncture, inter-scalene block and neurovascular injuries. The present study was conceived to find out the variation in depth of brachial plexus to suggest the minimum length of needle required to effectively perform the block, thus preventing possible complications. Methods: After approval from our Institutional Ethical Committee, informed and written consent was obtained from each of the ninety American Society of Anesthesiologists Physical Status I and II patients recruited, of either sex in the age group of 20–50 years. Supraclavicular fossa was scanned using a high-frequency linear probe, and the distances (shortest distance [SD] from skin to the most superficial neural element and longest distance [LD] from skin to the most deep neural element) were measured using on-screen callipers on optimal frozen image. Pearson correlation was used to find out the relation between these two distances and demographic parameters. Results: Mean SD was 0.60 ± 0.262 cm, and mean LD was found to be 1.34 ± 0.385 cm. We observed significant correlation between these two distances with weight and body mass index (BMI). Conclusion: Significant correlation was observed between SD and LD with weight and BMI. We suggest that a needle with a shaft length of 3 cm will be sufficient to reach the sheath of the brachial plexus during performance of the block. PMID:27330200

  7. [Management of proximal ureteral stones].

    PubMed

    Lechevallier, E; Taxer, O; Saussine, C

    2008-12-01

    Proximal ureteral stone less than 4-6mm may initially be treated by surveillance. Generally, extracorporeal shockwave lithotripsy (ESWL) is the first line treatment for proximal ureteral stones, specially for stones less than 1cm. For stones greater than 1cm, the results of ureteroscopy (URS) are better than the results of ESWL and in these cases URS may be an option. In case of failure of ESWL, URS can be proposed. URS can be the first line treatment in case of severe ureteral obstruction with no urinary infection. Proximal ureteroscopy must be careful because severe complications are not infrequent. Open surgery has very rare indication. Metabolic check-up and annually follow-up with at least a renal imaging at three months are recommended.

  8. Cubesat Proximity Operations Demonstration (CPOD)

    NASA Technical Reports Server (NTRS)

    Villa, Marco; Martinez, Andres; Petro, Andrew

    2015-01-01

    The CubeSat Proximity Operations Demonstration (CPOD) project will demonstrate rendezvous, proximity operations and docking (RPOD) using two 3-unit (3U) CubeSats. Each CubeSat is a satellite with the dimensions 4 inches x 4 inches x 13 inches (10 centimeters x 10 centimeters x 33 centimeters) and weighing approximately 11 pounds (5 kilograms). This flight demonstration will validate and characterize many new miniature low-power proximity operations technologies applicable to future missions. This mission will advance the state of the art in nanosatellite attitude determination,navigation and control systems, in addition to demonstrating relative navigation capabilities.The two CPOD satellites are scheduled to be launched together to low-Earth orbit no earlier than Dec. 1, 2015.

  9. Discrepancy between simultaneous digital skin microvascular and brachial artery macrovascular post-occlusive hyperemia in systemic sclerosis

    PubMed Central

    Roustit, Matthieu; Simmons, Grant H.; Baguet, Jean-Philippe; Carpentier, Patrick H.; Cracowski, Jean-Luc

    2008-01-01

    Objective Vascular impairment, a main feature of the pathogenesis of systemic sclerosis (SSc), involves both the macro- and the microvasculature. We compared and correlated simultaneously measured skin microvascular and brachial artery macrovascular post-occlusive hyperemia in 3 groups: patients with SSc, patients with primary Raynaud’s phenomenon (RP), and healthy volunteers. Methods Thirty-three healthy volunteers, 36 patients with primary RP, and 42 patients with SSc were enrolled. For each subject, brachial artery flow-mediated dilation (FMD) and cutaneous post-occlusive reactive hyperemia (PORH) were simultaneously recorded after 5-minute occlusion of the brachial artery. Local thermal hyperemia, nitroglycerin-mediated dilation (NMD), intima-media thickness (IMT), and pulse wave velocity (PWV) were also assessed. Results Digital cutaneous peak PORH was altered in patients with primary RP and SSc compared to healthy controls, whereas FMD was not significantly different among all groups. We observed a correlation between digital peak cutaneous vascular conductance and brachial FMD in healthy controls (r = 0.49; p = 0.004), but not in patients with primary RP or SSc. Thermal hyperemia was altered only in patients with SSc. Brachial NMD, IMT, and PWV were not different among all groups. Conclusion We observed a loss of the correlation between brachial FMD and digital cutaneous PORH in patients with SSc and primary RP. Microvascular function is impaired in SSc, whereas brachial artery endothelial function is normal. (J Rheumatol First Release June 15 2008) PMID:18597404

  10. Radiation-induced brachial plexopathy: Neurological follow-up in 161 recurrence-free breast cancer patients

    SciTech Connect

    Olsen, N.K.; Pfeiffer, P.; Johannsen, L.; Schroder, H.; Rose, C. )

    1993-04-30

    The purpose was to assess the incidence and clinical manifestations of radiation-induced brachial plexopathy in breast cancer patients, treated according to the Danish Breast Cancer Cooperative Group protocols. One hundred and sixty-one recurrence-free breast cancer patients were examined for radiation-induced brachial plexopathy after a median follow-up period of 50 months (13-99 months). After total mastectomy and axillary node sampling, high-risk patients were randomized to adjuvant therapy. One hundred twenty-eight patients were treated with postoperative radiotherapy with 50 Gy in 25 daily fractions over 5 weeks. In addition, 82 of these patients received cytotoxic therapy (cyclophosphamide, methotrexate, and 5-fluorouracil) and 46 received tamoxifen. Five percent and 9% of the patients receiving radiotherapy had disabling and mild radiation-induced brachial plexopathy, respectively. Radiation-induced brachial plexopathy was more frequent in patients receiving cytotoxic therapy (p = 0.04) and in younger patients (p = 0.04). The clinical manifestations were paraesthesia (100%), hypaesthesia (74%), weakness (58%), decreased muscle stretch reflexes (47%), and pain (47%). The brachial plexus is more vulnerable to large fraction size. Fractions of 2 Gy or less are advisable. Cytotoxic therapy adds to the damaging effect of radiotherapy. Peripheral nerves in younger patients seems more vulnerable. Radiation-induced brachial plexopathy occurs mainly as diffuse damage to the brachial plexus. 24 refs., 9 tabs.

  11. Proximal Rectus Femoris Avulsion Repair.

    PubMed

    Dean, Chase S; Arbeloa-Gutierrez, Lucas; Chahla, Jorge; Pascual-Garrido, Cecilia

    2016-06-01

    Proximal rectus femoris tendon avulsions are rare and occur mostly in male athletes. Currently, the standard of care for complete tendinous avulsions of the direct arm of the rectus femoris is nonoperative treatment. However, surgical repair may be considered in high-level athletes who have a high demand for repetitive hip flexion performed in an explosive manner or in patients in whom nonoperative treatment has failed. The purpose of this technical note is to describe the method for surgical repair of the proximal direct arm of the rectus femoris to its origin at the anterior inferior iliac spine using suture anchors. PMID:27656376

  12. Luxation de l’épaule compliquée de paralysie du plexus brachial

    PubMed Central

    Lukulunga, Loubet Unyendje; Moussa, Abdou Kadri; Mahfoud, Mustapha; EL Bardouni, Ahmed; Berrada, Mohamed Saleh; El Yaacoubi, Moradh

    2014-01-01

    Les auteurs rapportent l'observation d'une paralysie totale du plexus brachial survenue trois mois après un épisode de luxation antéro-interne sous coracoïdienne associée à une fracture du trochiter chez une patiente âgée de 88 ans. PMID:25426187

  13. Bilateral transit time assessment of upper and lower limbs as a surrogate ankle brachial index marker.

    PubMed

    Foo, Jong Yong Abdiel

    2008-01-01

    Ankle brachial index is useful in monitoring the pathogenesis of peripheral arterial occlusive diseases. Sphygmomanometer is the standard instrument widely used but frequent prolonged monitoring can be less comfortable for patients. Pulse transit time is known to be inversely correlated with blood pressure and a ratio-based pulse transit time measurement has been proposed as a surrogate ankle brachial index marker. In this study, 17 normotensive adults (9 men; aged 25.4 +/- 3.9 years) were recruited. Two postural change test activities were performed to induce changes in the stiffness of the arterial wall of the moved periphery. Results showed that only readings from the limbs that adopted a new posture registered significant blood pressure and pulse transit time changes (P < .05). Furthermore, there was significant correlation between the ankle brachial index and pulse transit time ratio measure for both test activities (R(2) > or = 0.704). The findings herein suggest that pulse transit time ratio is a surrogate and accommodating ankle brachial index marker. PMID:18480079

  14. Valproic acid protection against the brachial plexus root avulsion-induced death of motoneurons in rats.

    PubMed

    Wu, Dianxiu; Li, Qiang; Zhu, Xiaojuan; Wu, Guangzhi; Cui, Shusen

    2013-10-01

    In this study, the role of valproic acid (VPA) in protecting motoneuron after brachial plexus root avulsion was investigated in adult rats. Sixty rats were used in this study, and underwent the brachial plexus root avulsion injury, which was created by using a micro-hemostat forceps to pull out brachial plexus root from the intervertebral foramen. The animals were divided into two groups, VPA group administered with VPA dissolved in drinking water (300 mg/kg) daily, and control group had drinking water every day. The spinal cords (C5-T1) were harvested at day 1, 2, 3, 7, 14, and 28 for immunohistochemistry analysis, TUNEL staining, Nissl staining, and electron microscopy, respectively. The results showed that with VPA administration, the survival of motoneurons was promoted and the cell apoptosis was inhibited. The number of c-Jun and Bcl-2 positive motoneurons was increased immediately after avulsion both in control and VPA group, however, the percent of c-Jun positive motoneurons was decreased and the percent of Bcl-2 positive motoneurons was increased by VPA treatment significantly. Our results indicated that motoneurons were protected by VPA against cell death induced by brachial plexus root avulsion through c-Jun inhibition and Bcl-2 induction. PMID:23843283

  15. Brachial plexus injury management in military casualties: who, what, when, why, and how.

    PubMed

    Chambers, James A; Hiles, Claire L; Keene, Brian P

    2014-06-01

    The Global War on Terrorism has achieved an unprecedented 90% casualty survival rate because of far forward surgical support, rapid transport, and body armor. Despite the remarkable protection body armor affords, peripheral nerve injuries continue to occur. The brachial plexus in particular is still susceptible to penetrating trauma through the axilla as well as blunt mechanisms. We report 1,818 individuals with reported cases of peripheral nerve injury, 97 of which had brachial plexus injury incident from Operation Iraqi Freedom and Operation Enduring Freedom. We suspect that true prevalence is higher as initial focus on vascular and orthopedic reconstruction in complex shoulder injuries may overlook brachial plexus lesions. Accordingly, emergency physicians, general and orthopedic trauma surgeons, and vascular surgeons should all consider the possibility of brachial plexus and other peripheral nerve injury for early and appropriate referral to surgeons (plastic, orthopedic, or neurosurgical) for further evaluation and reconstruction. The latter group should be familiar with appropriate modern diagnostic and initial as well as salvage therapeutic options.

  16. Cost analysis of brachial plexus injuries: variability of compensation by insurance companies before and after surgery.

    PubMed

    Felici, N; Zaami, S; Ciancolini, G; Marinelli, E; Tagliente, D; Cannatà, C

    2014-04-01

    Traumatic paralysis of the brachial plexus is an extremely disabling pathology. The type of trauma most frequently suffered by this group of patients is due to motorcycle injuries. It therefore affects a population of young patients. In the majority of cases, these patients receive compensation for permanent damage from insurance companies. Surgery of the brachial plexus enables various forms of functional recovery, depending on the number of roots of the brachial plexus involved in the injury. The aim of this study is to compare the functional deficit and the extent of the related compensation before and after surgical intervention, and to evaluate the saving in economic terms (understood as the cost of compensation paid by insurance companies) obtainable through surgical intervention. The authors analysed the functional recovery obtained through surgery in 134 patients divided into 4 groups on the basis of the number of injured roots. The levels of compensation payable to the patient before surgical intervention, and 3 years after, were then compared. The results showed that the saving obtainable through surgical treatment of brachial plexus injuries may exceed 65% of the economic value of the compensation that would have been attributable to the same patients if they had not undergone surgical treatment.

  17. Valproic acid protects neurons and promotes neuronal regeneration after brachial plexus avulsion

    PubMed Central

    Li, Qiang; Wu, Dianxiu; Li, Rui; Zhu, Xiaojuan; Cui, Shusen

    2013-01-01

    Valproic acid has been shown to exert neuroprotective effects and promote neurite outgrowth in several peripheral nerve injury models. However, whether valproic acid can exert its beneficial effect on neurons after brachial plexus avulsion injury is currently unknown. In this study, brachial plexus root avulsion models, established in Wistar rats, were administered daily with valproic acid dissolved in drinking water (300 mg/kg) or normal water. On days 1, 2, 3, 7, 14 and 28 after avulsion injury, tissues of the C5–T1 spinal cord segments of the avulsion injured side were harvested to investigate the expression of Bcl-2, c-Jun and growth associated protein 43 by real-time PCR and western blot assay. Results showed that valproic acid significantly increased the expression of Bcl-2 and growth associated protein 43, and reduced the c-Jun expression after brachial plexus avulsion. Our findings indicate that valproic acid can protect neurons in the spinal cord and enhance neuronal regeneration following brachial plexus root avulsion. PMID:25206605

  18. Digital infarction in a hemodialysis patient due to embolism from a thrombosed brachial arteriovenous fistula.

    PubMed

    Yj, Anupama

    2015-10-01

    Acute onset of digital ischemia and infarction is an unusual complication in patients undergoing hemodialysis. This is a report of a patient on regular hemodialysis who presented with acute distal extremity ischemia, progressing to digital infarction and on evaluation was found to have thrombosis of brachial arteriovenous fistula with embolization to the distal arteries causing digital artery occlusion.

  19. A young man with intimomedial mucoid degeneration of the brachial artery.

    PubMed

    Raber, Menno H; Meerwaldt, Robbert; van Det, Rob J

    2011-03-01

    Intimomedial mucoid degeneration is a rare disorder and has been described as a distinctly different entity from Erdheim's cystic medial necrosis. Most studies show a strong predominance in African American females with hypertension. In our case report, we describe the presence of a large brachial aneurysm in a young white male with intimomedial mucoid degeneration. PMID:21215586

  20. Unusual clinic presentation of polyarteritis nodosa: involvement of axillary and brachial artery.

    PubMed

    Kocyigit, Ismail; Koyuncu, Sumeyra; Mavili, Ertugrul; Unal, Aydin; Tokmak, Turgut Tursem; Cilan, Havva; Kavuncuoglu, Feridun; Oymak, Oktay; Utas, Cengiz

    2011-01-01

    Polyarteritis nodosa (PAN) is a necrotizing inflammatory vasculitis of small- and medium-sized muscular arteries. Multiple organs, especially the kidney, skin, peripheric nerves, striated muscles, and intestine, are affected. In this case report, a patient with renal and hepatic involvement and axillary and brachial artery aneurysm resulting in shoulder hematoma and pain due to underlying PAN is presented.

  1. Constraining the brachial plexus does not compromise regional control in oropharyngeal carcinoma

    PubMed Central

    2013-01-01

    Background Accumulating evidence suggests that brachial plexopathy following head and neck cancer radiotherapy may be underreported and that this toxicity is associated with a dose–response. Our purpose was to determine whether the dose to the brachial plexus (BP) can be constrained, without compromising regional control. Methods The radiation plans of 324 patients with oropharyngeal carcinoma (OPC) treated with intensity-modulated radiation therapy (IMRT) were reviewed. We identified 42 patients (13%) with gross nodal disease <1 cm from the BP. Normal tissue constraints included a maximum dose of 66 Gy and a D05 of 60 Gy for the BP. These criteria took precedence over planning target volume (PTV) coverage of nodal disease near the BP. Results There was only one regional failure in the vicinity of the BP, salvaged with neck dissection (ND) and regional re-irradiation. There have been no reported episodes of brachial plexopathy to date. Conclusions In combined-modality therapy, including ND as salvage, regional control did not appear to be compromised by constraining the dose to the BP. This approach may improve the therapeutic ratio by reducing the long-term risk of brachial plexopathy. PMID:23835205

  2. A young man with intimomedial mucoid degeneration of the brachial artery.

    PubMed

    Raber, Menno H; Meerwaldt, Robbert; van Det, Rob J

    2011-03-01

    Intimomedial mucoid degeneration is a rare disorder and has been described as a distinctly different entity from Erdheim's cystic medial necrosis. Most studies show a strong predominance in African American females with hypertension. In our case report, we describe the presence of a large brachial aneurysm in a young white male with intimomedial mucoid degeneration.

  3. The Association of Homocysteine and Related Factors to Brachial Artery Diameter and Flow-Mediated Dilation

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Brachial artery flow-mediated dilation (BAFMD) has been proposed as a measurement of the degree and severity of cardiovascular disease. The purpose of this study was to (1) evaluate the associations between BAFMD and homocysteine, folate, vitamin B12, vitamin B6, (2) examine the influence of 5,10-me...

  4. Bilateral brachial plexus blocks in a patient of hypertrophic obstructive cardiomyopathy with hypertensive crisis.

    PubMed

    Pai, Rohini V Bhat; Hegde, Harihar V; Santhosh, McB; Roopa, S; Deshpande, Shrinivas S; Rao, P Raghavendra

    2013-01-01

    Hypertrophic obstructive cardiomyopathy (HOCM) is a challenge to anesthesiologists due to the complex pathophysiology involved and various perioperative complications associated with it. We present a 50-year-old man, a known case of HOCM, who successfully underwent emergency haemostasis, and debridement of the traumatically amputated right upper limb and the contused lacerated wound on the left forearm under bilateral brachial plexus blocks. His co-morbidities included hypertension (in hypertensive crisis) and diabetes mellitus. He was full stomach and also had an anticipated difficult airway. The management included invasive pressure monitoring and labetalol infusion for emergent control of blood pressure. The regional anaesthesia technique required careful consideration to the dosage of local anaesthetics and staggered performance of brachial plexus blocks on each of the upper limbs to avoid local anaesthetic toxicity. Even though bilateral brachial plexus blocks are rarely indicated, it seemed to be the most appropriate anaesthetic technique in our patient. With careful consideration of the local anaesthetic toxicity and meticulous technique, bilateral brachial plexus blocks can be successfully performed in those patients where general anaesthesia is deemed to be associated with higher risk.

  5. The extracellular domain of neurotrophin receptor p75 as a candidate biomarker for amyotrophic lateral sclerosis.

    PubMed

    Shepheard, Stephanie R; Chataway, Tim; Schultz, David W; Rush, Robert A; Rogers, Mary-Louise

    2014-01-01

    Objective biomarkers for amyotrophic lateral sclerosis would facilitate the discovery of new treatments. The common neurotrophin receptor p75 is up regulated and the extracellular domain cleaved from injured neurons and peripheral glia in amyotrophic lateral sclerosis. We have tested the hypothesis that urinary levels of extracellular neurotrophin receptor p75 serve as a biomarker for both human motor amyotrophic lateral sclerosis and the SOD1(G93A) mouse model of the disease. The extracellular domain of neurotrophin receptor p75 was identified in the urine of amyotrophic lateral sclerosis patients by an immuno-precipitation/western blot procedure and confirmed by mass spectrometry. An ELISA was established to measure urinary extracellular neurotrophin receptor p75. The mean value for urinary extracellular neurotrophin receptor p75 from 28 amyotrophic lateral sclerosis patients measured by ELISA was 7.9±0.5 ng/mg creatinine and this was significantly higher (p<0.001) than 12 controls (2.6±0.2 ng/mg creatinine) and 19 patients with other neurological disease (Parkinson's disease and Multiple Sclerosis; 4.1±0.2 ng/mg creatinine). Pilot data of disease progression rates in 14 MND patients indicates that p75NTR(ECD) levels were significantly higher (p = 0.0041) in 7 rapidly progressing patients as compared to 7 with slowly progressing disease. Extracellular neurotrophin receptor p75 was also readily detected in SOD1(G93A) mice by immuno-precipitation/western blot before the onset of clinical symptoms. These findings indicate a significant relation between urinary extracellular neurotrophin receptor p75 levels and disease progression and suggests that it may be a useful marker of disease activity and progression in amyotrophic lateral sclerosis.

  6. Combined Spinal Cord Stimulation and Peripheral Nerve Stimulation for Brachial Plexopathy: A Case Report.

    PubMed

    Choi, Ji Hye; Choi, Shu Chung; Kim, Dong Kyu; Sung, Choon Ho; Chon, Jin Young; Hong, Sung Jin; Lee, Ji Young; Moon, Ho Sik

    2016-03-01

    Brachial plexopathy usually results from an iatrogenic brachial plexus injury and can sometimes cause severe chronic pain and disability. There are a number of possible treatments for this condition, including medication, physical therapy, nerve blocks, and neuromodulation, but they are not always successful. Recently, combined spinal cord stimulation (SCS) and peripheral nerve stimulation (PNS) have been tried for various chronic pain diseases because of their different mechanisms of action.Here, we describe the case of a 54-year-old man who was diagnosed with brachial plexopathy 8 years ago. He underwent video-assisted thoracoscopic surgery to remove a superior mediastinal mass. However, his brachial plexus was damaged during the surgery. Although he had received various treatments, the pain did not improve. For the management of intractable severe pain, he underwent SCS 2 years ago, which initially reduced his pain from numeric rating scale (NRS) 10/10 to NRS 4 - 5/10, but the pain then gradually increased, reaching NRS 8/10, 6 months ago. At that time, he was refractory to other treatments, and we therefore applied PNS in combination with SCS. The PNS electrode was positioned on the radial nerve under ultrasound guidance. After combined PNS and SCS, his background pain disappeared, although a breakthrough pain (NRS 3 - 4/10) was caused intermittently by light touch. Furthermore, the patient's need for analgesics decreased, and he was satisfied with the outcome of this combined treatment. We concluded that combined SCS and PNS is a very useful treatment modality, which can stimulate the target nerve both directly and indirectly, and hence, relieve pain from brachial plexopathy. PMID:27008302

  7. Driven shielding capacitive proximity sensor

    NASA Technical Reports Server (NTRS)

    Vranish, John M. (Inventor); McConnell, Robert L. (Inventor)

    2000-01-01

    A capacitive proximity sensing element, backed by a reflector driven at the same voltage as and in phase with the sensor, is used to reflect the field lines away from a grounded robot arm towards an intruding object, thus dramatically increasing the sensor's range and sensitivity.

  8. Geographic Proximity and Enrollment Competition.

    ERIC Educational Resources Information Center

    Zammuto, Raymond F.

    The use of a measure of geographic proximity to help explain enrollment competition among postsecondary institutions was investigated. The measure, the number of miles between institutions, was obtained by determining the longitude and latitude coordinates for about 99% of the schools in the Higher Education General Information System universe.…

  9. Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis

    PubMed Central

    Lu, Ching-Hua; Allen, Kezia; Oei, Felicia; Leoni, Emanuela; Kuhle, Jens; Tree, Timothy; Fratta, Pietro; Sharma, Nikhil; Sidle, Katie; Howard, Robin; Orrell, Richard; Fish, Mark; Greensmith, Linda; Pearce, Neil; Gallo, Valentina

    2016-01-01

    Objective: To evaluate the combined blood expression of neuromuscular and inflammatory biomarkers as predictors of disease progression and prognosis in amyotrophic lateral sclerosis (ALS). Methods: Logistic regression adjusted for markers of the systemic inflammatory state and principal component analysis were carried out on plasma levels of creatine kinase (CK), ferritin, and 11 cytokines measured in 95 patients with ALS and 88 healthy controls. Levels of circulating biomarkers were used to study survival by Cox regression analysis and correlated with disease progression and neurofilament light chain (NfL) levels available from a previous study. Cytokines expression was also tested in blood samples longitudinally collected for up to 4 years from 59 patients with ALS. Results: Significantly higher levels of CK, ferritin, tumor necrosis factor (TNF)–α, and interleukin (IL)–1β, IL-2, IL-8, IL-12p70, IL-4, IL-5, IL-10, and IL-13 and lower levels of interferon (IFN)–γ were found in plasma samples from patients with ALS compared to controls. IL-6, TNF-α, and IFN-γ were the most highly regulated markers when all explanatory variables were jointly analyzed. High ferritin and IL-2 levels were predictors of poor survival. IL-5 levels were positively correlated with CK, as was TNF-α with NfL. IL-6 was strongly associated with CRP levels and was the only marker showing increasing expression towards end-stage disease in the longitudinal analysis. Conclusions: Neuromuscular pathology in ALS involves the systemic regulation of inflammatory markers mostly active on T-cell immune responses. Disease stratification based on the prognostic value of circulating inflammatory markers could improve clinical trials design in ALS. PMID:27308305

  10. Cytoskeletal abnormalities in amyotrophic lateral sclerosis: beneficial or detrimental effects?

    PubMed

    Julien, J P; Beaulieu, J M

    2000-11-01

    Cytoskeletal abnormalities have been reported in cases of amyotrophic lateral sclerosis (ALS) including abnormal inclusions containing neurofilaments (NFs) and/or peripherin, reduced mRNA levels for the NF light (NF-L) protein and mutations in the NF heavy (NF-H) gene. Recently, transgenic mouse approaches have been used to address whether cytoskeletal changes may contribute to motor neuron disease. Mice lacking one of the three NF subunits are viable and do not develop motor neuron disease. Nonetheless, mice with null mutations for NF-L or for both NF-M and NF-H genes developed severe atrophy of ventral and dorsal root axons. The atrophic process is associated with hind limb paralysis during aging in mice deficient for both NF-M and NF-H proteins. The overexpression in mice of transgenes coding for wild-type or mutant NF proteins can provoke abnormal NF accumulations, axonal atrophy and sometimes motor dysfunction. However, the perikaryal NF accumulations are generally well tolerated by motor neurons and, except for expression of a mutant NF-L transgene, they did not provoke massive motor neuron death. Increasing the levels of perikaryal NF proteins may even confer protection in motor neuron disease caused by ALS-linked mutations in the superoxide dismutase (SOD1). In contrast, the overexpression of wild-type peripherin, a type of IF gene upregulated by inflammatory cytokines, provoked the formation of toxic IF inclusions with the high-molecular-weight NF proteins resulting in the death of motor neurons during aging. These results together with the detection of peripherin inclusions at early stage of disease in mice expressing mutant SOD1 suggest that IF inclusions containing peripherin may play a contributory role in ALS pathogenesis.

  11. Angiogenin Loss-of-Function Mutations in Amyotrophic Lateral Sclerosis

    PubMed Central

    Wu, David; Yu, Wenhao; Kishikawa, Hiroko; Folkerth, Rebecca D.; Iafrate, A. John; Shen, Yiping; Xin, Winnie; Sims, Katherine; Hu, Guo-fu

    2009-01-01

    Objective Heterozygous missense mutations in the coding region of angiogenin (ANG), an angiogenic ribonuclease, have been reported in amyotrophic lateral sclerosis (ALS) patients. However, the role of ANG in motor neuron physiology and the functional consequences of these mutations are unknown. We searched for new mutations and sought to define the functional consequences of these mutations. Methods We sequenced the coding region of ANG in an independent cohort of North American ALS patients. Identified ANG mutations were then characterized using functional assays of angiogenesis, ribonucleolysis, and nuclear translocation. We also examined expression of ANG in normal human fetal and adult spinal cords. Results We identified four mutations in the coding region of ANG from 298 ALS patients. Three of these mutations are present in the mature protein. Among the four mutations, P(-4)S, S28N, and P112L are novel, and K17I has been reported previously. Functional assays show that these ANG mutations result in complete loss of function. The mutant ANG proteins are unable to induce angiogenesis because of a deficiency in ribonuclease activity, nuclear translocation, or both. As a correlate, we demonstrate strong ANG expression in both endothelial cells and motor neurons of normal human spinal cords from the developing fetus and adult. Interpretation We provide the first evidence that ANG mutations, identified in ALS patients, are associated with functional loss of ANG activity. Moreover, strong ANG expression, in normal human fetal and adult spinal cord neurons and endothelial cells, confirms the plausibility of ANG dysfunction being relevant to the pathogenesis of ALS. PMID:17886298

  12. Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis.

    PubMed

    D'Amico, Emanuele; Factor-Litvak, Pam; Santella, Regina M; Mitsumoto, Hiroshi

    2013-12-01

    Sporadic amyotrophic lateral sclerosis (ALS) is one of the most devastating neurological diseases; most patients die within 3 to 4 years after symptom onset. Oxidative stress is a disturbance in the pro-oxidative/antioxidative balance favoring the pro-oxidative state. Autopsy and laboratory studies in ALS indicate that oxidative stress plays a major role in motor neuron degeneration and astrocyte dysfunction. Oxidative stress biomarkers in cerebrospinal fluid, plasma, and urine are elevated, suggesting that abnormal oxidative stress is generated outside of the central nervous system. Our review indicates that agricultural chemicals, heavy metals, military service, professional sports, excessive physical exertion, chronic head trauma, and certain foods might be modestly associated with ALS risk, with a stronger association between risk and smoking. At the cellular level, these factors are all involved in generating oxidative stress. Experimental studies indicate that a combination of insults that induce modest oxidative stress can exert additive deleterious effects on motor neurons, suggesting that multiple exposures in real-world environments are important. As the disease progresses, nutritional deficiency, cachexia, psychological stress, and impending respiratory failure may further increase oxidative stress. Moreover, accumulating evidence suggests that ALS is possibly a systemic disease. Laboratory, pathologic, and epidemiologic evidence clearly supports the hypothesis that oxidative stress is central in the pathogenic process, particularly in genetically susceptive individuals. If we are to improve ALS treatment, well-designed biochemical and genetic epidemiological studies, combined with a multidisciplinary research approach, are needed and will provide knowledge crucial to our understanding of ALS etiology, pathophysiology, and prognosis. PMID:23797033

  13. Axonal Dysfunction Precedes Motor Neuronal Death in Amyotrophic Lateral Sclerosis.

    PubMed

    Iwai, Yuta; Shibuya, Kazumoto; Misawa, Sonoko; Sekiguchi, Yukari; Watanabe, Keisuke; Amino, Hiroshi; Kuwabara, Satoshi

    2016-01-01

    Wide-spread fasciculations are a characteristic feature in amyotrophic lateral sclerosis (ALS), suggesting motor axonal hyperexcitability. Previous excitability studies have shown increased nodal persistent sodium conductances and decreased potassium currents in motor axons of ALS patients, both of the changes inducing hyperexcitability. Altered axonal excitability potentially contributes to motor neuron death in ALS, but the relationship of the extent of motor neuronal death and abnormal excitability has not been fully elucidated. We performed multiple nerve excitability measurements in the median nerve at the wrist of 140 ALS patients and analyzed the relationship of compound muscle action potential (CMAP) amplitude (index of motor neuronal loss) and excitability indices, such as strength-duration time constant, threshold electrotonus, recovery cycle and current-threshold relationships. Compared to age-matched normal controls (n = 44), ALS patients (n = 140) had longer strength-duration time constant (SDTC: a measure of nodal persistent sodium current; p < 0.05), greater threshold changes in depolarizing threshold electrotonus (p < 0.05) and depolarizing current threshold relationship (i.e. less accommodation; (p < 0.05), greater superexcitability (a measure of fast potassium current; p < 0.05) and reduced late subexcitability (a measure of slow potassium current; p < 0.05), suggesting increased persistent sodium currents and decreased potassium currents. The reduced potassium currents were found even in the patient subgroups with normal CMAP (> 5mV). Regression analyses showed that SDTC (R = -0.22) and depolarizing threshold electrotonus (R = -0.22) increased with CMAP decline. These findings suggest that motor nerve hyperexcitability occurs in the early stage of the disease, and precedes motor neuronal loss in ALS. Modulation of altered ion channel function could be a treatment option for ALS. PMID:27383069

  14. Alzheimer disease and amyotrophic lateral sclerosis: An etiopathogenic connection

    PubMed Central

    Wang, Xiaochuan; Blanchard, Julie; Grundke-Iqbal, Inge; Wegiel, Jerzy; Deng, Han-Xiang; Siddique, Teepu; Iqbal, Khalid

    2013-01-01

    The etiopathogenesis of neither the sporadic form of Alzheimer disease (AD) nor of amyotrophic lateral sclerosis (ALS) are well understood. The activity of protein phosphatase-2A (PP2A), which regulates the phosphorylation of tau and neurofilaments, is negatively regulated by the myeloid leukemia-associated protein SET, also known as inhibitor-2 of PP2A, I2PP2A. In AD brain PP2A activity is compromised, probably because I2PP2A is overexpressed and is selectively cleaved at asparagine 175 into an N-terminal fragment, I2NTF, and a C-terminal fragment, I2CTF, and both fragments inhibit PP2A. Here we analyzed the spinal cords from ALS and control cases for I2PP2A cleavage and PP2A activity. As observed in AD brain, we found a selective increase in the cleavage of I2PP2A into I2NTF and I2CTF and inhibition of the activity and not the expression of PP2A in the spinal cords of ALS cases. To test the hypothesis that both AD and ALS could be triggered by I2CTF, a cleavage product of I2PP2A, we transduced by intracerebroventricular injections newborn rats with adeno-associated virus serotype 1 (AAV1) containing human I2CTF. AAV1- I2CTF produced reference memory impairment and tau pathology, and intraneuronal accumulation of Aβ by 5–8 months, and motor deficit and hyperphosphorylation and proliferation of neurofilaments, tau and TDP-43 pathologies, degeneration and loss of motor neurons and axons in the spinal cord by 10–14 months in rats. These findings suggest a previously undiscovered etiopathogenic relationship between sporadic forms of AD and ALS that is linked to I2PP2A and the potential of I2PP2A-based therapeutics for these diseases. PMID:24136402

  15. Amyotrophic lateral sclerosis: cell vulnerability or system vulnerability?

    PubMed Central

    Talbot, Kevin

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease with clinical, pathological and genetic overlap with frontotemporal dementia (FTD). No longer viewed as one disease with a single unified cause, ALS is now considered to be a clinicopathological syndrome resulting from a complex convergence of genetic susceptibility, age-related loss of cellular homeostasis, and possible environmental influences. The rapid increase in recent years of the number of genes in which mutations have been associated with ALS has led to in vitro and in vivo models that have generated a wealth of data indicating disruption of specific biochemical pathways and sub-cellular compartments. Data implicating pathways including protein misfolding, mRNA splicing, oxidative stress, proteosome and mitochondrial dysfunction in the pathogenesis of ALS reinforce a disease model based on selective age-dependent vulnerability of a specific population of cells. To the clinical neurologist, however, ALS presents as a disease of focal onset and contiguous spread. Characteristic regional patterns of involvement and progression suggest that the disease does not proceed randomly but via a restricted number of anatomical pathways. These clinical observations combined with electrophysiological and brain-imaging studies underpin the concept of ALS at the macroscopic level as a ‘system degeneration’. This dichotomy between cellular and systems neurobiology raises the fundamental questions of what initiates the disease process in a specific anatomical site and how the disease is propagated. Is the essence of ALS a cell-to-cell transmission of pathology with, for example, a ‘prion-like’ mechanism, or does the cellular pathology follow degeneration of specific synaptic networks? Elucidating the interaction between cellular degeneration and system level degeneration will aid modeling of the disease in the earliest phases, improve the development of sensitive markers of disease

  16. Axonal Dysfunction Precedes Motor Neuronal Death in Amyotrophic Lateral Sclerosis

    PubMed Central

    Iwai, Yuta; Shibuya, Kazumoto; Misawa, Sonoko; Sekiguchi, Yukari; Watanabe, Keisuke; Amino, Hiroshi; Kuwabara, Satoshi

    2016-01-01

    Wide-spread fasciculations are a characteristic feature in amyotrophic lateral sclerosis (ALS), suggesting motor axonal hyperexcitability. Previous excitability studies have shown increased nodal persistent sodium conductances and decreased potassium currents in motor axons of ALS patients, both of the changes inducing hyperexcitability. Altered axonal excitability potentially contributes to motor neuron death in ALS, but the relationship of the extent of motor neuronal death and abnormal excitability has not been fully elucidated. We performed multiple nerve excitability measurements in the median nerve at the wrist of 140 ALS patients and analyzed the relationship of compound muscle action potential (CMAP) amplitude (index of motor neuronal loss) and excitability indices, such as strength-duration time constant, threshold electrotonus, recovery cycle and current-threshold relationships. Compared to age-matched normal controls (n = 44), ALS patients (n = 140) had longer strength-duration time constant (SDTC: a measure of nodal persistent sodium current; p < 0.05), greater threshold changes in depolarizing threshold electrotonus (p < 0.05) and depolarizing current threshold relationship (i.e. less accommodation; (p < 0.05), greater superexcitability (a measure of fast potassium current; p < 0.05) and reduced late subexcitability (a measure of slow potassium current; p < 0.05), suggesting increased persistent sodium currents and decreased potassium currents. The reduced potassium currents were found even in the patient subgroups with normal CMAP (> 5mV). Regression analyses showed that SDTC (R = -0.22) and depolarizing threshold electrotonus (R = -0.22) increased with CMAP decline. These findings suggest that motor nerve hyperexcitability occurs in the early stage of the disease, and precedes motor neuronal loss in ALS. Modulation of altered ion channel function could be a treatment option for ALS. PMID:27383069

  17. Amyotrophic lateral sclerosis among cross-country skiers in Sweden.

    PubMed

    Fang, Fang; Hållmarker, Ulf; James, Stefan; Ingre, Caroline; Michaëlsson, Karl; Ahlbom, Anders; Feychting, Maria

    2016-03-01

    A highly increased risk of amyotrophic lateral sclerosis (ALS) has been suggested among professional athletes. We aimed to examine whether long distance cross-country skiers have also a higher risk of ALS and whether the increased risk was modified by skiing performance. We followed 212,246 cross-country skiers in the Swedish Vasaloppet cohort and a random selection of 508,176 general Swedes not participating in the Vasaloppet during 1989-2010. The associations between cross-country skiing as well as skiing performance (i.e., type of race, finishing time and number of races) and the consequent risk of ALS were estimated through hazard ratios (HRs) derived from Cox model. During the study, 39 cases of ALS were ascertained among the skiers. The fastest skiers (100-150% of winner time) had more than fourfold risk of ALS (HR 4.31, 95% confidence interval [CI] 1.78-10.4), as compared to skiers that finished at >180% of winner time. Skiers who participated >4 races during this period had also a higher risk (HR 3.13, 95% CI 1.37-7.17) than those participated only one race. When compared to the non-skiers, the fastest skiers still had a higher risk (HR 2.08, 95% CI 1.12-3.84), as skiers who had >4 races (HR 1.88, 95% CI 1.05-3.35), but those finishing at >180% of winner time had a lower risk (HR 0.46, 95% CI 0.24-0.87). In conclusion, long distance cross-country skiing is associated with a higher risk of ALS, but only among the best skiers; recreational skiers appear to have a largely reduced risk.

  18. Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis.

    PubMed

    Kaur, Simran J; McKeown, Stephanie R; Rashid, Shazia

    2016-02-15

    Amyotrophic lateral sclerosis (ALS) is a neural disorder that causes death of the motor neurons in the brain and spinal cord; this affects the voluntary muscles and gradually leads to paralysis of the whole body. Most ALS cases are sporadic, though about 5-10% are familial. ALS is caused by multiple factors including mutation in any one of a number of specific genes, one of the most frequently affected is superoxide dismutase (SOD) 1. Alterations in SOD 1 have been linked with several variants of familial ALS. SOD 1 is a powerful antioxidant enzyme that protects cells from the damaging effects of superoxide radicals. The enzyme binds both copper and zinc ions that are directly involved in the deactivation of toxic superoxide radicals. Mutated SOD1 gene can acquire both gain and loss of function mutations. The most commonly identified mutations in SOD1 that affect protein activity are D90A, A4V and G93A. Deleterious mutations have been shown to modify SOD1 activity, which leads to the accumulation of highly toxic hydroxyl radicals. Accumulation of these free radicals causes degradation of both nuclear and mitochondrial DNA and protein misfolding, features which can be used as pathological indicators associated with ALS. Numerous clinical trials have been carried out over last few years with limited success. In some patients advanced techniques like gene and stem cell therapy have been trialed. However no definitive treatment option can provide a cure and currently ALS is managed by drugs and other supportive therapies. Consequently there is a need to identify new approaches for treatment of this ultimately fatal disease.

  19. Wnt and Extraocular Muscle Sparing in Amyotrophic Lateral Sclerosis

    PubMed Central

    McLoon, Linda K.; Harandi, Vahid M.; Brännström, Thomas; Andersen, Peter M.; Liu, Jing-Xia

    2014-01-01

    Purpose. The extraocular muscles (EOM) and their motor neurons are spared in amyotrophic lateral sclerosis (ALS). In limb muscle, axon retraction from the neuromuscular junctions occurs early in the disease. Wnts, a conserved family of secreted signaling molecules, play a critical role in neuromuscular junction formation. This is the first study to examine Wnt signaling for its potential involvement in maintenance of normal morphology in EOM in ALS. Methods. Extraocular muscle and limb muscle axons, neuromuscular junctions, and myofibers from control, aging, and ALS subjects and the SOD1G93A mouse model of ALS were quantified for their expression of Wnt1, Wnt3a, Wnt5a, Wnt7a, and β-catenin. Results. All four Wnt isoforms were expressed in most axon profiles in all human EOM. Significantly fewer were positive for Wnt1, Wnt3a, and Wnt7a in the human limb muscles. Similar differential patterns in Wnt myofiber expression were also seen except in the case of Wnt7a, where expression was elevated. In the SOD1G93A mouse, all four Wnt isoforms were significantly decreased in the neuromuscular junctions at the terminal stage compared to values in age-matched controls. β-Catenin was activated in a subset of myofibers in EOM and limb muscle in all subjects. Conclusions. The differences in expression of Wnts in EOM and limb muscle, particularly at the neuromuscular junction level, suggest that they play a role in the pathophysiology of ALS. Collectively, the data support a role for signaling of Wnts in the preservation of the EOM in ALS and their dysregulation and the subsequent development of pathology in the ALS limb muscles. PMID:25125606

  20. Diagnostic Value and Surgical Implications of the 3D DW-SSFP MRI On the Management of Patients with Brachial Plexus Injuries

    PubMed Central

    Qin, Ben-Gang; Yang, Jian-Tao; Yang, Yi; Wang, Hong-Gang; Fu, Guo; Gu, Li-Qiang; Li, Ping; Zhu, Qing-Tang; Liu, Xiao-Lin; Zhu, Jia-Kai

    2016-01-01

    Three-dimensional diffusion-weighted steady-state free precession (3D DW-SSFP) of high-resolution magnetic resonance has emerged as a promising method to visualize the peripheral nerves. In this study, the application value of 3D DW-SSFP brachial plexus imaging in the diagnosis of brachial plexus injury (BPI) was investigated. 33 patients with BPI were prospectively examined using 3D DW-SSFP MR neurography (MRN) of brachial plexus. Results of 3D DW-SSFP MRN were compared with intraoperative findings and measurements of electromyogram (EMG) or somatosensory evoked potentials (SEP) for each injured nerve root. 3D DW-SSFP MRN of brachial plexus has enabled good visualization of the small components of the brachial plexus. The postganglionic section of the brachial plexus was clearly visible in 26 patients, while the preganglionic section of the brachial plexus was clearly visible in 22 patients. Pseudomeningoceles were commonly observed in 23 patients. Others finding of MRN of brachial plexus included spinal cord offset (in 16 patients) and spinal cord deformation (in 6 patients). As for the 3D DW-SSFP MRN diagnosis of preganglionic BPI, the sensitivity, the specificity and the accuracy were respectively 96.8%, 90.29%, and 94.18%. 3D DW-SSFP MRN of brachial plexus improve visualization of brachial plexus and benefit to determine the extent of injury. PMID:27782162

  1. Venous thrombosis in subclavian, axillary, brachial veins with extension to internal jugular vein, right sigmoid sinus and simultaneous pulmonary embolism

    PubMed Central

    Tamizifar, Babak; Beigi, Arash; Rismankarzadeh, Maryam

    2013-01-01

    We present a rare case of Venous Thrombosis in Subclavian, Axillary, Brachial Veins with extension to Internal Jugular vein, right sigmoid sinus and simultaneous Pulmonary embolism during the treatment with low molecular weight heparin. PMID:23901341

  2. 76 FR 78823 - Schedule for Rating Disabilities; Evaluation of Amyotrophic Lateral Sclerosis

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-20

    ... Sclerosis AGENCY: Department of Veterans Affairs. ACTION: Final rule. SUMMARY: The Department of Veterans... criterion provided for amyotrophic lateral sclerosis (ALS) to provide an evaluation of 100 percent for any... INFORMATION: On June 23, 2010, VA published in the Federal Register (75 FR 35711) a proposed rule that...

  3. Methods of Communication at End of Life for the Person with Amyotrophic Lateral Sclerosis

    ERIC Educational Resources Information Center

    Brownlee, Alisa; Bruening, Lisa M.

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results in loss of most motor functions by the time of death. Most persons with ALS experience a dysarthria that eventually renders oral/vocal communication unintelligible. This article reviews the communication needs of persons with ALS and the range of communication…

  4. Is There a Role for Exercise in the Management of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis?

    ERIC Educational Resources Information Center

    Plowman, Emily K.

    2015-01-01

    Purpose: The role of exercise in the management of people with amyotrophic lateral sclerosis (PALS) is controversial and currently unclear. The purpose of this review article is to review literature examining the impact of limb, respiratory, and oral motor exercise on function, disease progression, and survival in PALS and the transgenic ALS…

  5. Ethnic and demographic incidence of amyotrophic lateral sclerosis (ALS) in Brazil: A population based study.

    PubMed

    Moura, Mirian Conceicao; Casulari, Luiz Augusto; Carvalho Garbi Novaes, Maria Rita

    2016-01-01

    Our objectives were to examine demographic and ethnic factors associated with amyotrophic lateral sclerosis in Brazil. The method used was a retrospective study of death certificates performed in June 2015, identifying the incidence of amyotrophic lateral sclerosis over 10 years, from January 2004 to December 2013, related to gender, age and race. Results revealed 8942 death certificates with 8152 as the underlying cause and 790 as a secondary cause. The average age was 62.7 ± 13.2 years, with a predominance of males (1·3:1). The adjusted mortality rate over 20 years was 0.61 to 0.89/100,000 person-years, and over 45 years was 1.77 to 2.3/100,000 person-years. There was a predominance of amyotrophic lateral sclerosis in Caucasians compared to the general population above 20 years (2010 Census), with an odds ratio (OR) of 2.92 (95% CI 2.78-3.07). The OR in blacks was 0.04 (95% CI: 0.03-0.04), in mestizos was 0.05 (0.04-0.07), and in Indians was 0.02 (0.01-0.04). The mean age was lower than in European populations (48.5 ± 12.3 years) (p < 0.0001). In conclusion, the incidence of amyotrophic lateral sclerosis in Brazil is close to other Latin American populations, with a lower age at death and clear predominance in Caucasians.

  6. Against All Odds: Positive Life Experiences of People with Advanced Amyotrophic Lateral Sclerosis.

    ERIC Educational Resources Information Center

    Young, Jenny M.; McNicoll, Paule

    1998-01-01

    Describes the nature of positive life experiences of 13 people coping exceptionally well while living with advanced amyotrophic lateral sclerosis (ALS), or Lou Gehrig's, disease and the resulting significant physical disabilities. Emerging themes were the use of cognitive reappraisal, reframing, and intellectual stimulation as coping mechanisms;…

  7. Characteristics of Speaking Rate in the Dysarthria Associated with Amyotrophic Lateral Sclerosis.

    ERIC Educational Resources Information Center

    Turner, Greg S.; Weismer, Gary

    1993-01-01

    The ability to alter speaking rate was studied in nine adult subjects with amyotrophic lateral sclerosis and nine control subjects. Results suggest that the relationship between speaking rate, articulation rate, pause duration, and pause frequency remained largely intact for the dysarthric speakers. Data showed greater dependence on pausing by the…

  8. Speech Intelligibility and Marital Communication in Amyotrophic Lateral Sclerosis: An Exploratory Study

    ERIC Educational Resources Information Center

    Joubert, Karin; Bornman, Juan; Alant, Erna

    2011-01-01

    Amyotrophic lateral sclerosis (ALS), a rapidly progressive neuromuscular disease, has a devastating impact not only on individuals diagnosed with ALS but also their spouses. Speech intelligibility, often compromised as a result of dysarthria, affects the couple's ability to maintain effective, intimate communication. The purpose of this…

  9. Foot anomalies and proximal symphalangism.

    PubMed

    Shaw, Lauren; McCaul, Janet; Irwin, Greg J; Huntley, James S

    2012-09-01

    We report the case of a 2-week-old girl born at term (by vaginal delivery and without antenatal or perinatal events) who was referred as having "bilateral talipes and bilateral proximal symphalangism of little and ring fingers." The "talipes" was atypical with marked equinus and varus, but no cavus or adductus of the midfoot. Her mother had both symphalangism (absence of proximal interphalangeal joints) of middle, ring, and little fingers bilaterally and fixed pes planus with a rigid fixed hindfoot-and these deformities had also been present from birth. The maternal grandmother was similarly affected. However, the neonatal subject has an unaffected older sibling; maternal siblings are also unaffected. The three affected people did not have other obvious musculoskeletal abnormalities. Because of the coalitions, the child's atypical talipes was managed by a modified Kite's procedure. Symphalangism-coalition syndromes may be associated with conductive deafness because of fusion of the auditory ossicles.

  10. Fractures of the proximal humerus.

    PubMed

    Brorson, Stig

    2013-10-01

    Fractures of the proximal humerus have been diagnosed and managed since the earliest known surgical texts. For more than four millennia the preferred treatment was forceful traction, closed reduction, and immobilization with linen soaked in combinations of oil, honey, alum, wine, or cerate. The bandages were further supported by splints made of wood or coarse grass. Healing was expected in forty days. Different fracture patterns have been discussed and classified since Ancient Greece. Current classification of proximal humeral fractures mainly relies on the classifications proposed by Charles Neer and the AO/OTA classification. Since the late 1980's it has been known that intra- and inter-observer variation was high within the two systems. I conducted a series of observer studies to qualify the disagreement further and to study to what extent improvement of agreement could be obtained. No clinically significant differences in observer agreement were found at different levels of clinical experience, by reducing the number of categories, or by adding high quality radiographs, CT or 3D CT scans. A consistently low agreement on the Neer classification within and between untrained orthopaedic doctors was found. However, we also found that inter-observer agreement on treatment recommendation was higher than the agreement on the Neer classification. In a randomized trial we found that agreement could improve significantly by training of doctors, especially among specialists. However, classification of proximal humeral fractures remains a challenge for the conduct, reporting, and interpretation of clinical trials. The evidence for the benefits of surgery in complex fractures of the proximal humerus is weak. In three systematic reviews I studied the outcome after locking plate osteosynthesis or reverse arthroplasty in complex fractures patterns. No randomized trials or well-conducted comparative studies were identified. High failure rates suggest that the use of these

  11. Micropower RF material proximity sensor

    DOEpatents

    McEwan, Thomas E.

    1998-01-01

    A level detector or proximity detector for materials capable of sensing through plastic container walls or encapsulating materials is of the sensor. Thus, it can be used in corrosive environments, as well as in a wide variety of applications. An antenna has a characteristic impedance which depends on the materials in proximity to the antenna. An RF oscillator, which includes the antenna and is based on a single transistor in a Colpitt's configuration, produces an oscillating signal. A detector is coupled to the oscillator which signals changes in the oscillating signal caused by changes in the materials in proximity to the antenna. The oscillator is turned on and off at a pulse repetition frequency with a low duty cycle to conserve power. The antenna consists of a straight monopole about one-quarter wavelength long at the nominal frequency of the oscillator. The antenna may be horizontally disposed on a container and very accurately detects the fill level within the container as the material inside the container reaches the level of the antenna.

  12. Micropower RF material proximity sensor

    DOEpatents

    McEwan, T.E.

    1998-11-10

    A level detector or proximity detector for materials capable of sensing through plastic container walls or encapsulating materials is disclosed. Thus, it can be used in corrosive environments, as well as in a wide variety of applications. An antenna has a characteristic impedance which depends on the materials in proximity to the antenna. An RF oscillator, which includes the antenna and is based on a single transistor in a Colpitt`s configuration, produces an oscillating signal. A detector is coupled to the oscillator which signals changes in the oscillating signal caused by changes in the materials in proximity to the antenna. The oscillator is turned on and off at a pulse repetition frequency with a low duty cycle to conserve power. The antenna consists of a straight monopole about one-quarter wavelength long at the nominal frequency of the oscillator. The antenna may be horizontally disposed on a container and very accurately detects the fill level within the container as the material inside the container reaches the level of the antenna. 5 figs.

  13. Plating of proximal humeral fractures.

    PubMed

    Martetschläger, Frank; Siebenlist, Sebastian; Weier, Michael; Sandmann, Gunther; Ahrens, Philipp; Braun, Karl; Elser, Florian; Stöckle, Ulrich; Freude, Thomas

    2012-11-01

    The optimal treatment for proximal humeral fractures is controversial. Few data exist concerning the influence of the surgical approach on the outcome. The purpose of this study was to evaluate the clinical and radiological outcomes of proximal humeral fractures treated with locking plate fixation through a deltopectoral vs an anterolateral deltoid-splitting approach. Of 86 patients who met the inclusion criteria, 70 were available for follow-up examination. Thirty-three patients were treated through a deltopectoral approach and 37 through an anterolateral deltoid-splitting approach. In all cases, open reduction and internal fixation with a PHILOS locking plate (Synthes, Umkirch, Germany) was performed. Clinical follow-up included evaluation of pain, shoulder mobility, and strength. Constant score and Disabilities of the Arm, Shoulder and Hand (DASH) score were assessed. A clinical neurological examination of the axillary nerve was also performed. Consolidation, reduction, and appearance of head necrosis were evaluated radiographically. After a mean follow-up of 33 months, Constant scores, DASH scores, and American Shoulder and Elbow Surgeons scores showed no significant differences between the groups. Clinical neurologic examination of the axillary nerve revealed no obvious damage to the nerve in either group. Deltopectoral and anterolateral detoid-splitting approaches for plate fixation of proximal humeral fractures are safe and provide similar clinical outcomes. The results of this study suggest that the approach can be chosen according to surgeon preference.

  14. Antecedent Disease and Amyotrophic Lateral Sclerosis: What Is Protecting Whom?

    PubMed

    Hollinger, Sabrina K; Okosun, Ike S; Mitchell, Cassie S

    2016-01-01

    Multiple studies have shown that antecedent diseases are less prevalent in amyotrophic lateral sclerosis (ALS) patients than the general age-matched population, which suggests possible neuroprotection. Antecedent disease could be protective against ALS or, conversely, the asymptomatic early physiological underpinnings of ALS could be protective against other antecedent disease. Elucidating the impact of antecedent disease on ALS is critical for assessing diagnostic risk factors, prognostic outcomes, and intervention timing. The objective of this study was to examine the relationship between antecedent conditions and ALS onset age and disease duration (i.e. survival). Medical history surveys for 1439 Emory ALS Clinic patients (Atlanta, GA, USA) were assessed for antecedent hypertension, hyperlipidemia, diabetes, obesity, asthma, arthritis, chronic obstructive pulmonary disease (COPD), thyroid, kidney, liver, and other non-ALS neurological diseases. The ALS onset age and disease duration are compared between the antecedent and non-antecedent populations using chi square, Kaplan-Meier, and ordinal logistic regression. When controlled for confounders, antecedent hypertension (high blood pressure), hyperlipidemia (high cholesterol), arthritis, COPD, thyroid disease, and non-ALS neurological disease are found to be statistically associated with a delayed ALS onset age, whereas antecedent obesity [body mass index (BMI) > 30] was correlated to earlier ALS onset age. With the potential exceptions of liver disease and diabetes (the latter without other common comorbid conditions), antecedent disease is associated with overall shorter ALS disease duration. The unique potential relationship between antecedent liver disease and longer ALS disease duration warrants further investigation, especially given liver disease was found to be a factor of 4-7 times less prevalent in ALS. Notably, most conditions associated with delayed ALS onset are also associated with shorter

  15. Proteomic analysis of cerebrospinal fluid in amyotrophic lateral sclerosis

    PubMed Central

    CHEN, YAN; LIU, XIAO-HUI; WU, JIAN-JUN; REN, HUI-MING; WANG, JIAN; DING, ZHENG-TONG; JIANG, YU-PING

    2016-01-01

    The present study used comparative proteomic analysis of cerebrospinal fluid (CSF) in amyotrophic lateral sclerosis (ALS) patients in order to identify proteins that may act as diagnostic biomarkers and indicators of the pathogenesis of ALS. This analysis was performed using isobaric tags for relative and absolute quantitation (iTRAQ) technology, coupled with 2-dimensional liquid chromatography/mass spectrometry. Database for Annotation, Visualization and Integrated Discovery software was utilized for bioinformatic analysis of the data. Following this, western blotting was performed in order to examine the expression of 3 candidate proteins in ALS patients compared with healthy individuals [as a normal control (NC) group] or patients with other neurological disease (OND); these proteins were insulin-like growth factor II (IGF-2), glutamate receptor 4 (GRIA4) and leucine-rich α-2-glycoprotein 1 (LRG1). Clinical data, including gender, age, disease duration and ALS functional rating scale (ALSFRS-R) score, were also collected in the ALS patients. Multiple linear regression analysis was performed between the clinical data and the results of western blot analysis. A total of 248 distinct proteins were identified in the ALS and NC groups, amongst which a significant difference could be identified in 35 proteins; of these, 21 proteins were downregulated and 14 were upregulated. These differentially-expressed proteins were thus revealed to be associated with ALS. The western blot analysis confirmed a proportion of the data attained in the iTRAQ analysis, revealing the differential protein expression of IGF-2 and GRIA4 between the ALS and NC groups. IGF-2 was significantly downregulated in ALS patients (P=0.017) and GRIA4 was significantly upregulated (P=0.016). These results were subsequently validated in the 35-patient ALS and OND groups (P=0.002), but no significant difference was identified in LRG1 expression between these groups. GRIA4 protein expression was higher

  16. Antecedent Disease and Amyotrophic Lateral Sclerosis: What Is Protecting Whom?

    PubMed Central

    Hollinger, Sabrina K.; Okosun, Ike S.; Mitchell, Cassie S.

    2016-01-01

    Multiple studies have shown that antecedent diseases are less prevalent in amyotrophic lateral sclerosis (ALS) patients than the general age-matched population, which suggests possible neuroprotection. Antecedent disease could be protective against ALS or, conversely, the asymptomatic early physiological underpinnings of ALS could be protective against other antecedent disease. Elucidating the impact of antecedent disease on ALS is critical for assessing diagnostic risk factors, prognostic outcomes, and intervention timing. The objective of this study was to examine the relationship between antecedent conditions and ALS onset age and disease duration (i.e. survival). Medical history surveys for 1439 Emory ALS Clinic patients (Atlanta, GA, USA) were assessed for antecedent hypertension, hyperlipidemia, diabetes, obesity, asthma, arthritis, chronic obstructive pulmonary disease (COPD), thyroid, kidney, liver, and other non-ALS neurological diseases. The ALS onset age and disease duration are compared between the antecedent and non-antecedent populations using chi square, Kaplan–Meier, and ordinal logistic regression. When controlled for confounders, antecedent hypertension (high blood pressure), hyperlipidemia (high cholesterol), arthritis, COPD, thyroid disease, and non-ALS neurological disease are found to be statistically associated with a delayed ALS onset age, whereas antecedent obesity [body mass index (BMI) > 30] was correlated to earlier ALS onset age. With the potential exceptions of liver disease and diabetes (the latter without other common comorbid conditions), antecedent disease is associated with overall shorter ALS disease duration. The unique potential relationship between antecedent liver disease and longer ALS disease duration warrants further investigation, especially given liver disease was found to be a factor of 4–7 times less prevalent in ALS. Notably, most conditions associated with delayed ALS onset are also associated with shorter

  17. Amyotrophic lateral sclerosis and occupational exposure to electromagnetic fields

    SciTech Connect

    Davanipour, Z.; Sobel, E.; Bowman, J.D.; Qian, Z.; Will, A.D.

    1997-03-01

    In an hypothesis-generating case-control study of amyotrophic lateral sclerosis, lifetime occupational histories were obtained. The patients (n = 28) were clinic based. The occupational exposure of interest in this report is electromagnetic fields (EMFs). This is the first and so far the only exposure analyzed in this study. Occupational exposure up to 2 years prior to estimated disease symptom onset was used for construction of exposure indices for cases. Controls (n = 32) were blood and nonblood relatives of cases. Occupational exposure for controls was through the same age as exposure for the corresponding cases. Twenty (71%) cases and 28 (88%) controls had at least 20 years of work experience covering the exposure period. The occupational history and task data were used to classify blindly each occupation for each subject as having high, medium/high, medium, medium/low, or low EMF exposure, based primarily on data from an earlier and unrelated study designed to obtain occupational EMF exposure information on workers in ``electrical`` and ``nonelectrical`` jobs. By using the length of time each subject spent in each occupation through the exposure period, two indices of exposure were constructed: total occupational exposure (E{sub 1}) and average occupational exposure (E{sub 2}). For cases and controls with at least 20 years of work experience, the odds ratio (OR) for exposure at the 75th percentile of the E{sub 1} case exposure data relative to minimum exposure was 7.5 (P < 0.02; 95% CI, 1.4--38.1) and the corresponding OR for E{sub 2} was 5.5 (P < 0.02; 95% CI, 1.3--22.5). For all cases and controls, the ORs were 2.5 (P < 0.1; 95% CI, 0.9--8.1) for E{sub 1} and 2.3 (P = 0.12; 95% CI, 0.8--6.6) for E{sub 2}. This study should be considered an hypothesis-generating study. Larger studies, using incident cases and improved exposure assessment, should be undertaken.

  18. Proximate and polyphenolic characterization of cranberry pomace

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The proximate composition and identification and quantification of polyphenolic compounds in dried cranberry pomace were determined. Proximate analysis was conducted based on AOAC methods for moisture, protein, fat, and ash. Total carbohydrates were determined by the difference method. Polyphenolic ...

  19. Brachial approach to NOGA-guided procedures: electromechanical mapping and transendocardial stem-cell injections.

    PubMed

    Banovic, Marko; Ostojic, Miodrag C; Bartunek, Jozef; Nedeljkovic, Milan; Beleslin, Branko; Terzic, Andre

    2011-01-01

    Several methods are available for delivering stem cells to the heart. Recent studies have highlighted the advantages of injecting the cells directly into the myocardium in order to increase myocardial retention of cells. A particular focus has been on percutaneous transendocardial injection, facilitated by electromechanical mapping.The NOGA XP Cardiac Navigation System has a multicomponent catheter that is designed to guide and deliver transendocardial injections via a transfemoral approach, without a guidewire. However, this method may not be feasible in some patients who have peripheral vascular disease. Herein, we describe the case of a 68-year-old man whose tortuous, sharply angled iliac arteries precluded a femoral approach to transendocardial injection. To overcome the anatomic and mechanical challenges, we used a brachial approach. We believe that this is the 1st report of using the brachial route for transendocardial injection, and that it can be a viable alternative to the transfemoral approach in selected patients.

  20. Prolonged hemidiaphragmatic paresis following continuous interscalene brachial plexus block: A case report.

    PubMed

    Shinn, Helen Ki; Kim, Byung-Gun; Jung, Jong Kwon; Kwon, Hee Uk; Yang, Chunwoo; Won, Jonghun

    2016-06-01

    Interscalene brachial plexus block provides effective anesthesia and analgesia for shoulder surgery. One of the disadvantages of this technique is the risk of hemidiaphragmatic paresis, which can occur as a result of phrenic nerve block and can cause a decrease in the pulmonary function, limiting the use of the block in patients with reduced functional residual capacity or a preexisting pulmonary disease. However, it is generally transient and is resolved over the duration of the local anesthetic's action.We present a case of a patient who experienced prolonged hemidiaphragmatic paresis following a continuous interscalene brachial plexus block for the postoperative pain management of shoulder surgery, and suggest a mechanism that may have led to this adverse effect.Nerve injuries associated with peripheral nerve blocks may be caused by several mechanisms. Our findings suggest that perioperative nerve injuries can occur as a result of combined mechanical and chemical injuries. PMID:27310984

  1. Brachial vs. central systolic pressure and pulse wave transmission indicators: a critical analysis.

    PubMed

    Izzo, Joseph L

    2014-12-01

    This critique is intended to provide background for the reader to evaluate the relative clinical utilities of brachial cuff systolic blood pressure (SBP) and its derivatives, including pulse pressure, central systolic pressure, central augmentation index (AI), and pulse pressure amplification (PPA). The critical question is whether the newer indicators add sufficient information to justify replacing or augmenting brachial cuff blood pressure (BP) data in research and patient care. Historical context, pathophysiology of variations in pulse wave transmission and reflection, issues related to measurement and model errors, statistical limitations, and clinical correlations are presented, along with new comparative data. Based on this overview, there is no compelling scientific or practical reason to replace cuff SBP with any of the newer indicators in the vast majority of clinical situations. Supplemental value for central SBP may exist in defining patients with exaggerated PPA ("spurious systolic hypertension"), managing cardiac and aortic diseases, and in studies of cardiovascular drugs, but there are no current standards for these possibilities.

  2. Multiple unilateral variations in medial and lateral cords of brachial plexus and their branches

    PubMed Central

    Goel, Shivi; Kumar, Ashwani; Mehta, Vandana; Suri, Rajesh Kumar

    2014-01-01

    During routine dissection of the upper extremity of an adult male cadaver, multiple variations in branches of medial and lateral cords of brachial plexus were encountered. Three unique findings were observed. First, intercordal neural communications between the lateral and medial cords were observed. Second, two lateral pectoral nerves and one medial pectoral nerve were seen to arise from the lateral and medial cord respectively. The musculocutaneous nerve did not pierce the coracobrachialis. Finally, the ulnar nerve arose by two roots from the medial cord. Knowledge of such variations is of interest to anatomists, radiologists, neurologists, anesthesiologists, and surgeons. The aim of our study is to provide additional information about abnormal brachial plexus and its clinical implications. PMID:24693486

  3. Multiple unilateral variations in medial and lateral cords of brachial plexus and their branches.

    PubMed

    Goel, Shivi; Rustagi, Shaifaly Madan; Kumar, Ashwani; Mehta, Vandana; Suri, Rajesh Kumar

    2014-03-01

    During routine dissection of the upper extremity of an adult male cadaver, multiple variations in branches of medial and lateral cords of brachial plexus were encountered. Three unique findings were observed. First, intercordal neural communications between the lateral and medial cords were observed. Second, two lateral pectoral nerves and one medial pectoral nerve were seen to arise from the lateral and medial cord respectively. The musculocutaneous nerve did not pierce the coracobrachialis. Finally, the ulnar nerve arose by two roots from the medial cord. Knowledge of such variations is of interest to anatomists, radiologists, neurologists, anesthesiologists, and surgeons. The aim of our study is to provide additional information about abnormal brachial plexus and its clinical implications.

  4. Clinico-embryological perspective of a rare accessory brachial muscle with possible musculocutaneous nerve compression.

    PubMed

    Mehta, V; Yadav, Y; Arora, Jyoti; Kumar, H; Suri, R K; Rath, G

    2009-03-01

    Both brachialis and biceps brachii are primary flexors of the arm and elbow from the biomechanical perspective. Numerous reports exist in anatomical literature regarding accessory heads of biceps brachii, although such accessory bellies in relation to brachialis muscle are less frequently elucidated. We report a unilateral case of a rare accessory muscle interposed between the biceps brachii and brachialis, having the musculocutaneous nerve (MCN) entrapped between the two. Furthermore, the muscle divided into two slips, upper slip was attached to biceps brachii and the other gained insertion to the brachial fascia. Innervation to this accessory muscle was derived from MCN. The embryological basis for such supernumerary muscle is discussed. Additionally, the case is considered under surgical and clinical perspective, highlighting the importance of familiarity with such variations. Anatomical variations of the brachial musculature may cause diagnostic perplexities while interpreting MRI or CT scans.

  5. Iatrogenic brachial artery injury during anterolateral plating of humeral shaft fracture.

    PubMed

    Kumar, Vishal; Behera, Prateek; Aggarwal, Sameer; Meena, Umesh Kumar

    2013-01-01

    There are several well defined indications for surgical management of humeral shaft fractures. Operative procedures on the humerus are associated with their own complications. Iatrogenic brachial artery injury as a complication of humeral shaft plating has not been reported previously. We report a case of a 48 years old female, who received operation at a district hospital and was referred to us when the surgeon could not palpate the pulse. CT angiogram showed that there was segmental non-opacification of the brachial artery. There was distal reformation and the thrombosis was decided to be managed conservatively. We believe that the arterial injury was a result of improper surgical technique and the segmental block might be due to improper use of plate holding forceps. This case report makes us aware of a rare complication of operative management of humeral shaft fractures and that basic principles of surgery must be always followed to prevent such injuries. PMID:24295587

  6. Brachial plexus injury with emphasis on axillary nerve paralysis after thoracoscopic sympathicotomy for axillary hyperhidrosis.

    PubMed

    Chon, Soon-Ho; Suk Choi, Matthew Seung

    2006-12-01

    Thoracic sympathicotomy for the treatment of axillary hyperhidrosis with the use of 2 mm thoracoscope and instruments is a simple and safe procedure. Nerve paralysis of any type after thoracic sympathicotomy is an extremely rare event. We report a 44-year-old woman who developed brachial plexus injury of her left arm after thoracoscopic sympathicotomy for axillary hyperhidrosis. The lesion involved the whole arm. All nerves of the brachial plexus except the axillary nerve recovered quickly. An axillary nerve type lesion was observed for 7 weeks, until the patient fully recovered all functions of her arm. The mechanism is believed not to be caused by the procedure itself, but by dorsal overextension of the abducted arm during the operation. PMID:17277662

  7. Endovascular Treatment of Infected Brachial Pseudoaneurysm in an Intravenous Drug Abuser: A Case Report.

    PubMed

    Boieru, Raluca; Georg, Yannick; Ramlugun, Dharmesh; Martinot, Martin; Camin, Amelie; Matysiak, Lucien; Kretz, Benjamin

    2015-10-01

    We report the case of a 36-year-old male, admitted in the emergency room with a nonruptured brachial pseudoaneurysm after buprenorphine injection, with no signs of distal acute ischemia. After endovascular treatment with a nitinol covered stent associated with adapted antibiotherapy and 35 days of hospitalizations, the patient was discharged with good short results but stent need to be removed at 6 months for thrombosis and partial exposure through the wound. PMID:26142880

  8. Perspectives on glenohumeral joint contractures and shoulder dysfunction in children with perinatal brachial plexus palsy.

    PubMed

    Gharbaoui, Idris S; Gogola, Gloria R; Aaron, Dorit H; Kozin, Scott H

    2015-01-01

    Shoulder joint deformities continue to be a challenging aspect of treating upper plexus lesions in children with perinatal brachial plexus palsy (PBPP). It is increasingly recognized that PBPP affects the glenohumeral joint specifically, and that abnormal scapulothoracic movements are a compensatory development. The pathophysiology and assessment of glenohumeral joint contractures, the progression of scapular dyskinesia and skeletal dysplasia, and current shoulder imaging techniques are reviewed. PMID:25835253

  9. Combined Intrauterine Vascular Insufficiency and Brachial Plexus Palsy: A Case Report

    PubMed Central

    Sinclair, Catherine; Terkonda, Sarvam P.

    2007-01-01

    A unique case of combined intrauterine vascular insufficiency and complete brachial plexus palsy is described in a newborn delivered by cesarean section. Intrauterine vascular insufficiency resulted in a right below elbow amputation at 3 weeks of age. Amputation length was preserved after a pedicled thoracoabdominal flap. Function of the C5, C6, and C7 nerve roots returned to normal by 3 months of age. PMID:18780089

  10. Body vectoring technique with Radiesse® for tightening of the abdomen, thighs, and brachial zone

    PubMed Central

    Cogorno Wasylkowski, Valeria

    2015-01-01

    Background The objective of this study was to investigate the efficacy, safety, and subject satisfaction of the calcium hydroxylapatite-based dermal filler Radiesse® in a novel body vectoring technique to correct skin flaccidity in the thighs, abdomen, and brachial zones. Methods Female subjects with self-evaluated flaccidity scores ≥3 on a 6-point scale (0, no flaccidity; 5, very severe flaccidity) in the zones of interest were included. Radiesse was injected according to predesigned vector maps (3 mL per thigh, 1.5 mL per hemiabdomen or brachial zone). Clinical assessments (skin density and thickness) were made by an independent reviewer at an exact position before and 5 weeks after treatment using a cutometer and an ultrascan. Subjects rated skin flaccidity before and 5 weeks after treatment on the 6-point scale and performed a pinch test to self-assess changes in skin thickness. All adverse events were recorded. Results Twenty females (aged 28–67 years) were enrolled, contributing 36 treatment zones. Across all zones, 78% of flaccidity measurements improved after treatment. Improvements in skin flaccidity were most common in the thighs (82% of cases). An improvement in skin density versus baseline was observed in the majority across all zones, most frequently in the abdomen (88% of cases). Skin thickness in each zone also improved versus baseline for the majority, most frequently in the thighs (88% of cases). Mean self-assessed flaccidity scores at baseline were 3.6 (thighs), 3.7 (abdomen), and 3.8 (brachial zone), and 2.6, 2.7, and 3.0, respectively, posttreatment. All subjects reported a positive pinch test. In total, 47.0% of subjects had bruising after treatment, which resolved within a week. No serious adverse events were reported. Conclusion Using this novel technique, Radiesse had notable results on skin flaccidity, density and thickness in the thighs, abdomen, and brachial zones, and was well tolerated. PMID:26056483

  11. Radiation-induced brachial plexopathy in patients with nasopharyngeal carcinoma: a retrospective study

    PubMed Central

    Fu, Ruying; Rong, Xiaoming; Wu, Rong; Cheng, Jinping; Huang, Xiaolong; Luo, Jinjun; Tang, Yamei

    2016-01-01

    Radiation-induced brachial plexopathy (RIBP) is one of the late complications in nasopharyngeal carcinoma (NPC) patients who received radiotherapy. We conducted a retrospective study to investigate its clinical characteristics and risk factors. Thirty-onepatients with RIBP after radiotherapy for NPC were enrolled. Clinical manifestations of RIBP, electrophysiologic data, magnetic resonance imaging (MRI), and the correlation between irradiation strategy and incidence of RIBP were evaluated. The mean latency at the onset of RIBP was 4.26 years. Of the symptoms, paraesthesia usually presented first (51.6%), followed by pain (22.6%) and weakness (22.6%). The major symptoms included paraesthesia (90.3%), pain (54.8%), weakness (48.4%), fasciculation (19.3%) and muscle atrophy (9.7%). Nerve conduction velocity (NCV) and electromyography (EMG) disclosed that pathological changes of brachial plexus involved predominantly in the upper and middle trunks in distribution. MRI of the brachial plexus showed hyper-intensity on T1, T2, post-contrast T1 and diffusion weighted whole body imaging with background body signal suppression (DWIBS) images in lower cervical nerves. Radiotherapy with Gross Tumor volume (GTVnd) and therapeutic dose (mean 66.8±2.8Gy) for patients with lower cervical lymph node metastasis was related to a significantly higher incidence of RIBP (P<0.001). Thus, RIBP is a severe and progressive complication of NPC after radiotherapy. The clinical symptoms are predominantly involved in upper and middle trunk of the brachial plexus in distribution. Lower cervical lymph node metastasis and corresponding radiotherapy might cause a significant increase of the RIBP incidence. PMID:26934119

  12. Automated edge detection versus manual edge measurement in analysis of brachial artery reactivity: a comparison study.

    PubMed

    Williamson, Eric B; Bronas, Ulf G; Dengel, Donald R

    2008-09-01

    High resolution ultrasound, combined with computer imaging technology, is commonly used to measure changes in brachial artery diameter for the determination of endothelial-dependent vasodilation (EDD) and endothelial independent-vasodilation (EID). Currently, two methods of computerized edge-detection systems are in use to measure changes in artery diameter. One system involves the sonographer manually tracking the artery walls while the second system involves a computer automated edge-detection system that automatically tracks the artery wall. The purpose of this study was to compare the two types of computerized edge-detection systems for measuring vascular function and structure. One hundred fifty (female = 70, male = 80) participants agreed to participate. Baseline brachial diameter, carotid intima-medial thickness (cIMT), EDD and EID were measured by the two computerized edge-detection systems utilizing the same ultrasound B-mode image. Mean values (+/-standard error) for baseline diameter, cIMT, EDD and EID were 3.53 (+/-0.10) mm, 0.43 (+/-0.01) mm, 5.72 (+/-0.20)% and 22.17 (+/-0.60)%, respectively for the manual edge-detection software system. Mean values for baseline diameter, cIMT, EDD and EID were 3.59 (+/-0.10) mm, 0.44 (+/-0.01) mm, 7.33 (+/-0.30)% and 25.77 (+/-0.60)%, respectively for the automated edge-detection software system. Bland-Altman plots displayed large variations between the two edge-detection methods for assessing cIMT and changes in artery diameter following brachial EDD and EID. The results of the study demonstrate that manual and automated computerized edge-detection systems track dynamic changes in brachial artery diameter and cIMT measures differently. Therefore, caution should be used when comparing research utilizing different computerized edge-detection systems for measuring vascular function and structure.

  13. A Case of Suspected Breast Cancer Metastasis to Brachial Plexus Detected by Magnetic Resonance Neurography

    PubMed Central

    Mizuma, Atsushi; Kijima, Chikage; Nagata, Eiichiro; Takizawa, Shunya

    2016-01-01

    Metastasis of breast cancer is often detected through a long-term course and difficult to diagnose. We report a case of brachial plexopathy suspected to be the initial lesion of breast cancer metastasis, which was only detected by magnetic resonance (MR) neurography. A 61-year-old woman was admitted to our hospital within 2 years after operation for breast cancer because of progressive dysesthesia and motor weakness initially in the upper limb on the affected side and subsequently on the contralateral side. Enhanced computed tomography, axillary lymph node echo, gallium scintigraphy, and short tau inversion recovery MR images showed no abnormalities. MR neurography revealed a swollen region in the left brachial plexus. We suspected neuralgic amyotrophy and initiated treatment with intravenous immunoglobulin therapy and steroid therapy. However, there was no improvement, and the progression of motor weakness in the bilateral lower limbs appeared over 4 years. Concomitant elevation of carbohydrate antigen 15-3 level (58.9 U/ml) led us to suspect breast cancer metastasis, which was associated with the worsening of neurological findings, although gallium scintigraphy and bone scintigraphy showed no inflammatory and metastatic lesions. Swelling of the cauda equina in enhanced lumbar MR imaging and abnormal accumulation at the brachial plexus and cervical spinal cord in positron-emission tomography were newly detected contrary to the normal findings on the gallium scintigraphy, which suggested cerebrospinal fluid seeding. We suspected breast cancer metastasis about the initial brachial plexopathy based on the clinical course. MR neurography may be a helpful tool to detect metastatic lesion, especially in nerve roots. PMID:27721757

  14. Sensory Evaluation of the Hands in Children with Brachial Plexus Birth Injury

    ERIC Educational Resources Information Center

    Palmgren, Tove; Peltonen, Jari; Linder, Tove; Rautakorpi, Sanna; Nietosvaara, Yrjana

    2007-01-01

    The aim of this study was to examine sensory changes of the hand in brachial plexus birth injury (BPBI). Ninety-five patients (43 females, 52 males) comprising two age groups, 6 to 8 years (mean age 7y 6mo) and 12 to 14 years (mean age 13y 2mo), were included. Sixty-four had upper (cervical [C] 5-6), 19 upper and middle (C5-7), and 12 had total…

  15. Phrenic Nerve Transfer for Reconstruction of Elbow Extension in Severe Brachial Plexus Injuries.

    PubMed

    Flores, Leandro P; Socolovsky, Mariano

    2016-09-01

    Background Restoring elbow extension is an important objective to pursue when repairing the brachial plexus in patients with a flail arm. Based upon the good results obtained using the phrenic nerve to restore elbow flexion and shoulder stability, we hypothesized that this nerve could also be employed to reconstruct elbow extension in patients with severe brachial plexus injuries. Methods A retrospective study of 10 patients in which the phrenic nerve targeted the radial nerve (7 patients) or the branch to the long head of the triceps (3 patients) as a surgical strategy for reconstruction of the brachial plexus. Results The mean postoperative follow-up time was 34 months. At final follow-up, elbow extension graded as M4 was measured in three patients, Medical Research Council MRC M3 in five patients, and M2 in one patient, while one patient experienced no measurable recovery (M0). No patient complained or demonstrated any signs of respiratory insufficiency postoperatively. Conclusions The phrenic nerve is a reliable donor for reanimation of elbow extension in such cases, and the branch to the long head of the triceps should be considered as a better target for the nerve transfer. PMID:27144951

  16. [Transradial percutaneous approach for cardiac catheterization in patients with previous brachial artery cutdown].

    PubMed

    Magariños, Eduardo; Solioz, Germán; Cermesoni, Gabriel; Koretzky, Martín; Carnevalini, Mariana; González, Daniel

    2013-01-01

    The percutaneous punction of the radial artery for catheterization procedures has gained acceptance lately. This was a consequence of achieving results similar to the femoral approach, with the benefits of a lower rate of complications and increased comfort for the patients post procedure. Recently it has gained an additional impulse with the better prognosis obtained in acute coronary syndromes. In this trial we have evaluated if the feasibility, results and advantages related with the use of the radial artery percutaneous approach to perform catheterization procedures, continues when used in patients who have had a previous brachial artery cutdown. Out of a total of 1356 percutaneous radial accesses, 53 were in patients with previous brachial artery cutdown. Through this access 71 catheterization procedures were performed, achieving access success in 96.2% (51/53) of the punctions. Once the access success was obtained, 93.6% (44/47) of the diagnostic procedures and 100% (24/24) of the therapeutics procedures were successful. During hospitalization, in this group of patients, no major adverse cardiac events occurred and there was a 1.4% (1/71) rate of minor events. At seven days follow up, no new complications were recorded. Although this is a small group, we believe that it is enough to show that percutaneous punctions of the radial artery to perform catheterization procedures, in patients with previous brachial artery cutdown, are feasible, allowing high access and procedure success rates, with a low frequency of complications.

  17. Does retraction of the sternum during median sternotomy result in brachial plexus injuries?

    PubMed

    Healey, Scott; O'Neill, Bridie; Bilal, Haris; Waterworth, Paul

    2013-07-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was 'does retraction of the sternum during median sternotomy result in brachial plexus injuries or peripheral neuropathies?' Altogether 58 papers were found using the reported search, of which 12 represented the best evidence to answer the question. The authors, date, journal and country of publication, patient group studied, study type, relevant outcomes and results of these papers were tabulated. Caudal placement of the retractor or relieving the pressure superiorly by removing the upper blades of a retractor (P = 0.02) and use of a caudally placed symmetrical retractor has been shown to reduce neuropathy. Positioning of the patient with 'hands up' positioning showed significant reduction in the incidence of brachial plexus injuries. Furthermore, how wide the retractor is opened and use of an asymmetrical retractor for internal mammary artery (IMA) harvesting are also important factors in quantifying risk of postoperative neuropathy. Wider sternal retraction and longer bypass time did increase the risk of developing postoperative neuropathy. Three asymmetrical retractors were looked at that demonstrates the Delacroix-Chevalier to be the safest (P < 0.05). We conclude that median sternotomy risks brachial plexus injury and where possible the sternum should be opened as small a distance as possible with symmetrical retractor and using a caudally placed retractor.

  18. Gross anatomy of the brachial plexus in the giant Anteater (Myrmecophaga tridactyla).

    PubMed

    Souza, P R; Cardoso, J R; Araujo, L B M; Moreira, P C; Cruz, V S; Araujo, E G

    2014-10-01

    Ten forelimbs of five Myrmecophaga tridactyla were examined to study the anatomy of the brachial plexus. The brachial plexuses of the M. tridactyla observed in the present study were formed by the ventral rami of the last four cervical spinal nerves, C5 through C8, and the first thoracic spinal nerve, T1. These primary roots joined to form two trunks: a cranial trunk comprising ventral rami from C5-C7 and a caudal trunk receiving ventral rami from C8-T1. The nerves originated from these trunks and their most constant arrangement were as follows: suprascapular (C5-C7), subscapular (C5-C7), cranial pectoral (C5-C8), caudal pectoral (C8-T1), axillary (C5-C7), musculocutaneous (C5-C7), radial (C5-T1), median (C5-T1), ulnar (C5-T1), thoracodorsal (C5-C8), lateral thoracic (C7-T1) and long thoracic (C6-C7). In general, the brachial plexus in the M. tridactyla is similar to the plexuses in mammals, but the number of rami contributing to the formation of each nerve in the M. tridactyla was found to be larger than those of most mammals. This feature may be related to the very distinctive anatomical specializations of the forelimb of the anteaters.

  19. Phrenic Nerve Transfer for Reconstruction of Elbow Extension in Severe Brachial Plexus Injuries.

    PubMed

    Flores, Leandro P; Socolovsky, Mariano

    2016-09-01

    Background Restoring elbow extension is an important objective to pursue when repairing the brachial plexus in patients with a flail arm. Based upon the good results obtained using the phrenic nerve to restore elbow flexion and shoulder stability, we hypothesized that this nerve could also be employed to reconstruct elbow extension in patients with severe brachial plexus injuries. Methods A retrospective study of 10 patients in which the phrenic nerve targeted the radial nerve (7 patients) or the branch to the long head of the triceps (3 patients) as a surgical strategy for reconstruction of the brachial plexus. Results The mean postoperative follow-up time was 34 months. At final follow-up, elbow extension graded as M4 was measured in three patients, Medical Research Council MRC M3 in five patients, and M2 in one patient, while one patient experienced no measurable recovery (M0). No patient complained or demonstrated any signs of respiratory insufficiency postoperatively. Conclusions The phrenic nerve is a reliable donor for reanimation of elbow extension in such cases, and the branch to the long head of the triceps should be considered as a better target for the nerve transfer.

  20. Proximal Biceps in Overhead Athletes.

    PubMed

    Chalmers, Peter N; Verma, Nikhil N

    2016-01-01

    The proximal long head of the biceps tendon and its attachment at the superior glenoid tubercle and labrum are subject to a spectrum of disorders in overhead athletes. Biceps disorders are commonly characterized by intermittent anterior or deep-seated shoulder pain exacerbated by activity. Diagnosis is reached via various physical examination maneuvers; MRI can be uncertain. Nonsteroidal anti-inflammatory medications, targeted ultrasound-guided corticosteroid injections, and supervised physical therapy are the mainstays of nonoperative treatment. Operative treatment, which remains controversial, provides reliable pain relief, restoration of function for activities of daily living, and low complication rates, but return to play can be unpredictable.

  1. Biomass proximate analysis using thermogravimetry.

    PubMed

    García, Roberto; Pizarro, Consuelo; Lavín, Antonio G; Bueno, Julio L

    2013-07-01

    This work proposes a 25 min-last thermogravimetric method as a tool to determine biomass sample's proximate analysis data (moisture, ash, volatile matter and fixed carbon contents) just by direct measure of weight changes on each sample's TG chart. Compared with international standards commonly used to that aim, TG is a faster and easier to develop technique. Obtained results were satisfactory, with AEE under 6% for moisture and volatile matter, close to 10% for fixed carbon determination and AAD of 1.6 points for ash content.

  2. The HTV Proximity Communication System

    NASA Astrophysics Data System (ADS)

    Harada, Motoyuki; Takahashi, Tetsuo; Tanaka, Tetsuo

    2002-01-01

    National Space Development Agency of Japan (NASDA) is developing the H-II Transfer Vehicle (HTV) as an unmanned logistic support vehicle for the International Space Station (ISS). The HTV, which is launched by the H-IIA rocket, transports both pressurized and un-pressurized cargoes to the ISS, reloads disposal items from the ISS and performs destructive reentry over ocean area. NASDA plans the first flight of HTV in 2005 for demonstration. The HTV will contribute the ISS assembly and logistic re-supply operations with international commonality. For unmanned vehicle operation, communication link is critical with commanding and control, especially in proximity region to the ISS. As for the HTV operation, NASDA is developing dedicated communication system installed on the Japanese Experiment Module (JEM) of the ISS, which is called the Proximity Communication System (PROX). The HTV receives commands and transmits telemetry data through the PROX in its proximity operation to the ISS. To achieve this, the PROX can communicate with the HTV on its nominal trajectory within 23km of the ISS. Especially within 3km of the ISS, the PROX has capability to perform omni-directional communication to the HTV. The PROX also has GPS receiver and send GPS data to the HTV to support the HTV navigation for relative GPS navigation used in "far" range (500m away from the ISS). In addition to the above fundamental functions, the PROX has a capability of range and range-rate measurement between the ISS and the HTV by the pseudo noise (PN) code epoch and the Doppler shift frequency. This provides a reference data independent of "main" navigation methods (rendezvous sensor navigation or GPS navigation) of the HTV. The PROX also assists the ISS crew with its commanding device, called the Hardware Command Panel (HCP), to issue time-dependent safety-related critical commands for HTV berthing/un-berthing operation. When a failure occurs somewhere on "communication path" from the PROX Base Band

  3. Central blood pressure estimation by using N-point moving average method in the brachial pulse wave.

    PubMed

    Sugawara, Rie; Horinaka, Shigeo; Yagi, Hiroshi; Ishimura, Kimihiko; Honda, Takeharu

    2015-05-01

    Recently, a method of estimating the central systolic blood pressure (C-SBP) using an N-point moving average method in the radial or brachial artery waveform has been reported. Then, we investigated the relationship between the C-SBP estimated from the brachial artery pressure waveform using the N-point moving average method and the C-SBP measured invasively using a catheter. C-SBP using a N/6 moving average method from the scaled right brachial artery pressure waveforms using VaSera VS-1500 was calculated. This estimated C-SBP was compared with the invasively measured C-SBP within a few minutes. In 41 patients who underwent cardiac catheterization (mean age: 65 years), invasively measured C-SBP was significantly lower than right cuff-based brachial BP (138.2 ± 26.3 vs 141.0 ± 24.9 mm Hg, difference -2.78 ± 1.36 mm Hg, P = 0.048). The cuff-based SBP was significantly higher than invasive measured C-SBP in subjects with younger than 60 years old. However, the estimated C-SBP using a N/6 moving average method from the scaled right brachial artery pressure waveforms and the invasively measured C-SBP did not significantly differ (137.8 ± 24.2 vs 138.2 ± 26.3 mm Hg, difference -0.49 ± 1.39, P = 0.73). N/6-point moving average method using the non-invasively acquired brachial artery waveform calibrated by the cuff-based brachial SBP was an accurate, convenient and useful method for estimating C-SBP. Thus, C-SBP can be estimated simply by applying a regular arm cuff, which is greatly feasible in the practical medicine.

  4. The ratio of N-acetyl aspartate to glutamate correlates with disease duration of amyotrophic lateral sclerosis.

    PubMed

    Sako, Wataru; Abe, Takashi; Izumi, Yuishin; Harada, Masafumi; Kaji, Ryuji

    2016-05-01

    Glutamate (Glu)-induced excitotoxicity has been implicated in the neuronal loss of amyotrophic lateral sclerosis. To test the hypothesis that Glu in the primary motor cortex contributes to disease severity and/or duration, the Glu level was investigated using MR spectroscopy. Seventeen patients with amyotrophic lateral sclerosis were diagnosed according to the El Escorial criteria for suspected, possible, probable or definite amyotrophic lateral sclerosis, and enrolled in this cross-sectional study. We measured metabolite concentrations, including N-acetyl aspartate (NAA), creatine, choline, inositol, Glu and glutamine, and performed partial correlation between each metabolite concentration or NAA/Glu ratio and disease severity or duration using age as a covariate. Considering our hypothesis that Glu is associated with neuronal cell death in amyotrophic lateral sclerosis, we investigated the ratio of NAA to Glu, and found a significant correlation between NAA/Glu and disease duration (r=-0.574, p=0.02). The "suspected" amyotrophic lateral sclerosis patients showed the same tendency as possible, probable and definite amyotrophic lateral sclerosis patients in regard to correlation of NAA/Glu ratio with disease duration. The other metabolites showed no significant correlation. Our findings suggested that glutamatergic neurons are less vulnerable compared to other neurons and this may be because inhibitory receptors are mainly located presynaptically, which supports the notion of Glu-induced excitotoxicity.

  5. Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

    PubMed Central

    Al-Chalabi, Ammar; Calvo, Andrea; Chio, Adriano; Colville, Shuna; Ellis, Cathy M; Hardiman, Orla; Heverin, Mark; Howard, Robin S; Huisman, Mark H B; Keren, Noa; Leigh, P Nigel; Mazzini, Letizia; Mora, Gabriele; Orrell, Richard W; Rooney, James; Scott, Kirsten M; Scotton, William J; Seelen, Meinie; Shaw, Christopher E; Sidle, Katie S; Swingler, Robert; Tsuda, Miho; Veldink, Jan H; Visser, Anne E; van den Berg, Leonard H; Pearce, Neil

    2014-01-01

    Summary Background Amyotrophic lateral sclerosis shares characteristics with some cancers, such as onset being more common in later life, progression usually being rapid, the disease affecting a particular cell type, and showing complex inheritance. We used a model originally applied to cancer epidemiology to investigate the hypothesis that amyotrophic lateral sclerosis is a multistep process. Methods We generated incidence data by age and sex from amyotrophic lateral sclerosis population registers in Ireland (registration dates 1995–2012), the Netherlands (2006–12), Italy (1995–2004), Scotland (1989–98), and England (2002–09), and calculated age and sex-adjusted incidences for each register. We regressed the log of age-specific incidence against the log of age with least squares regression. We did the analyses within each register, and also did a combined analysis, adjusting for register. Findings We identified 6274 cases of amyotrophic lateral sclerosis from a catchment population of about 34 million people. We noted a linear relationship between log incidence and log age in all five registers: England r2=0·95, Ireland r2=0·99, Italy r2=0·95, the Netherlands r2=0·99, and Scotland r2=0·97; overall r2=0·99. All five registers gave similar estimates of the linear slope ranging from 4·5 to 5·1, with overlapping confidence intervals. The combination of all five registers gave an overall slope of 4·8 (95% CI 4·5–5·0), with similar estimates for men (4·6, 4·3–4·9) and women (5·0, 4·5–5·5). Interpretation A linear relationship between the log incidence and log age of onset of amyotrophic lateral sclerosis is consistent with a multistage model of disease. The slope estimate suggests that amyotrophic lateral sclerosis is a six-step process. Identification of these steps could lead to preventive and therapeutic avenues. Funding UK Medical Research Council; UK Economic and Social Research Council; Ireland Health Research Board; The

  6. Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43

    PubMed Central

    Uchida, Azusa; Sasaguri, Hiroki; Kimura, Nobuyuki; Tajiri, Mio; Ohkubo, Takuya; Ono, Fumiko; Sakaue, Fumika; Kanai, Kazuaki; Hirai, Takashi; Sano, Tatsuhiko; Shibuya, Kazumoto; Kobayashi, Masaki; Yamamoto, Mariko; Yokota, Shigefumi; Kubodera, Takayuki; Tomori, Masaki; Sakaki, Kyohei; Enomoto, Mitsuhiro; Hirai, Yukihiko; Kumagai, Jiro; Yasutomi, Yasuhiro; Mochizuki, Hideki; Kuwabara, Satoshi; Uchihara, Toshiki; Mizusawa, Hidehiro

    2012-01-01

    Amyotrophic lateral sclerosis is a fatal neurodegenerative disease characterized by progressive motoneuron loss. Redistribution of transactive response deoxyribonucleic acid-binding protein 43 from the nucleus to the cytoplasm and the presence of cystatin C-positive Bunina bodies are considered pathological hallmarks of amyotrophic lateral sclerosis, but their significance has not been fully elucidated. Since all reported rodent transgenic models using wild-type transactive response deoxyribonucleic acid-binding protein 43 failed to recapitulate these features, we expected a species difference and aimed to make a non-human primate model of amyotrophic lateral sclerosis. We overexpressed wild-type human transactive response deoxyribonucleic acid-binding protein 43 in spinal cords of cynomolgus monkeys and rats by injecting adeno-associated virus vector into the cervical cord, and examined the phenotype using behavioural, electrophysiological, neuropathological and biochemical analyses. These monkeys developed progressive motor weakness and muscle atrophy with fasciculation in distal hand muscles first. They also showed regional cytoplasmic transactive response deoxyribonucleic acid-binding protein 43 mislocalization with loss of nuclear transactive response deoxyribonucleic acid-binding protein 43 staining in the lateral nuclear group of spinal cord innervating distal hand muscles and cystatin C-positive cytoplasmic aggregates, reminiscent of the spinal cord pathology of patients with amyotrophic lateral sclerosis. Transactive response deoxyribonucleic acid-binding protein 43 mislocalization was an early or presymptomatic event and was later associated with neuron loss. These findings suggest that the transactive response deoxyribonucleic acid-binding protein 43 mislocalization leads to α-motoneuron degeneration. Furthermore, truncation of transactive response deoxyribonucleic acid-binding protein 43 was not a prerequisite for motoneuronal degeneration, and

  7. Widespread grey matter pathology dominates the longitudinal cerebral MRI and clinical landscape of amyotrophic lateral sclerosis.

    PubMed

    Menke, Ricarda A L; Körner, Sonja; Filippini, Nicola; Douaud, Gwenaëlle; Knight, Steven; Talbot, Kevin; Turner, Martin R

    2014-09-01

    Diagnosis, stratification and monitoring of disease progression in amyotrophic lateral sclerosis currently rely on clinical history and examination. The phenotypic heterogeneity of amyotrophic lateral sclerosis, including extramotor cognitive impairments is now well recognized. Candidate biomarkers have shown variable sensitivity and specificity, and studies have been mainly undertaken only cross-sectionally. Sixty patients with sporadic amyotrophic lateral sclerosis (without a family history of amyotrophic lateral sclerosis or dementia) underwent baseline multimodal magnetic resonance imaging at 3 T. Grey matter pathology was identified through analysis of T1-weighted images using voxel-based morphometry. White matter pathology was assessed using tract-based spatial statistics analysis of indices derived from diffusion tensor imaging. Cross-sectional analyses included group comparison with a group of healthy controls (n = 36) and correlations with clinical features, including regional disability, clinical upper motor neuron signs and cognitive impairment. Patients were offered 6-monthly follow-up MRI, and the last available scan was used for a separate longitudinal analysis (n = 27). In cross-sectional study, the core signature of white matter pathology was confirmed within the corticospinal tract and callosal body, and linked strongly to clinical upper motor neuron burden, but also to limb disability subscore and progression rate. Localized grey matter abnormalities were detected in a topographically appropriate region of the left motor cortex in relation to bulbar disability, and in Broca's area and its homologue in relation to verbal fluency. Longitudinal analysis revealed progressive and widespread changes in the grey matter, notably including the basal ganglia. In contrast there was limited white matter pathology progression, in keeping with a previously unrecognized limited change in individual clinical upper motor neuron scores, despite advancing disability

  8. MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.

    PubMed

    MacNair, Laura; Xiao, Shangxi; Miletic, Denise; Ghani, Mahdi; Julien, Jean-Pierre; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Robertson, Janice

    2016-01-01

    Tar DNA-binding protein 43 (TDP-43) is an RNA-binding protein normally localized to the nucleus of cells, where it elicits functions related to RNA metabolism such as transcriptional regulation and alternative splicing. In amyotrophic lateral sclerosis, TDP-43 is mislocalized from the nucleus to the cytoplasm of diseased motor neurons, forming ubiquitinated inclusions. Although mutations in the gene encoding TDP-43, TARDBP, are found in amyotrophic lateral sclerosis, these are rare. However, TDP-43 pathology is common to over 95% of amyotrophic lateral sclerosis cases, suggesting that abnormalities of TDP-43 play an active role in disease pathogenesis. It is our hypothesis that a loss of TDP-43 from the nucleus of affected motor neurons in amyotrophic lateral sclerosis will lead to changes in RNA processing and expression. Identifying these changes could uncover molecular pathways that underpin motor neuron degeneration. Here we have used translating ribosome affinity purification coupled with microarray analysis to identify the mRNAs being actively translated in motor neurons of mutant TDP-43(A315T) mice compared to age-matched non-transgenic littermates. No significant changes were found at 5 months (presymptomatic) of age, but at 10 months (symptomatic) the translational profile revealed significant changes in genes involved in RNA metabolic process, immune response and cell cycle regulation. Of 28 differentially expressed genes, seven had a ≥ 2-fold change; four were validated by immunofluorescence labelling of motor neurons in TDP-43(A315T) mice, and two of these were confirmed by immunohistochemistry in amyotrophic lateral sclerosis cases. Both of these identified genes, DDX58 and MTHFSD, are RNA-binding proteins, and we show that TDP-43 binds to their respective mRNAs and we identify MTHFSD as a novel component of stress granules. This discovery-based approach has for the first time revealed translational changes in motor neurons of a TDP-43 mouse model

  9. Executive deficits, not processing speed relates to abnormalities in distinct prefrontal tracts in amyotrophic lateral sclerosis.

    PubMed

    Pettit, Lewis D; Bastin, Mark E; Smith, Colin; Bak, Thomas H; Gillingwater, Thomas H; Abrahams, Sharon

    2013-11-01

    Cognitive impairment in amyotrophic lateral sclerosis is characterized by deficits on tests of executive function; however, the contribution of abnormal processing speed is unknown. Methods are confounded by tasks that depend on motor speed in patients with physical disability. Structural and functional magnetic resonance imaging studies have revealed multi-system cerebral involvement, with evidence of reduced white matter volume and integrity in predominant frontotemporal regions. The current study has two aims. First, to investigate whether cognitive impairments in amyotrophic lateral sclerosis are due to executive dysfunction or slowed processing speed using methodology that accommodates motor disability. This is achieved using a dual-task paradigm and tasks that manipulate stimulus presentation times and do not rely on response motor speed. Second, to identify relationships between specific cognitive impairments and the integrity of distinct white matter tracts. Thirty patients with amyotrophic lateral sclerosis and 30 age- and education-matched control subjects were administered an experimental dual-task procedure that combined a visual inspection time task and digit recall. In addition, measures of executive function (including letter fluency) and processing speed (visual inspection time and rapid serial letter identification) were administered. Integrity of white matter tracts was determined using region of interest analyses of diffusion tensor magnetic resonance imaging data. Patients with amyotrophic lateral sclerosis did not show impairments on tests of processing speed, but executive deficits were revealed once visual inspection time was combined with digit recall (dual-task) and in letter fluency. In addition to the corticospinal tracts, significant differences in fractional anisotropy and mean diffusivity were found between groups in a number of prefrontal and temporal white matter tracts including the anterior cingulate, anterior thalamic radiation

  10. Proximal bodies in hypersonic flow

    SciTech Connect

    Deiterding, Ralf; Laurence, Stuart J; Hornung, Hans G

    2007-01-01

    Hypersonic flows involving two or more bodies travelling in close proximity to one another are encountered in several important situations, both natural and man-made. The present work seeks to investigate one aspect of the resulting flow problem by exploring the forces experienced by a secondary body when it is within the domain of influence of a primary body travelling at hypersonic speeds. An analytical methodology based on the blast wave analogy is developed and used to predict the secondary force coefficients for simple geometries in both two and three dimensions. When the secondary body is entirely inside the primary shocked region, the nature of the lateral force coefficient is found to depend strongly on the relative size of the two bodies. For two spheres, the methodology predicts that the secondary body will experience an exclusively attractive lateral force if the secondary diameter is larger than one-sixth the primary diameter. The analytical results are compared with those from numerical simulations and reasonable agreement is observed if an appropriate normalization for the lateral displacement is used. Results from a series of experiments in the T5 hypervelocity shock tunnel are also presented and compared with perfect-gas numerical simulations, with good agreement. A new force-measurement technique for short-duration hypersonic facilities, enabling the experimental simulation of the proximal bodies problem, is described. This technique provides two independent means of measurement, and the agreement observed between the two gives a further degree of confidence in the results obtained.

  11. Protein Neighbors and Proximity Proteomics*

    PubMed Central

    Rees, Johanna S.; Li, Xue-Wen; Perrett, Sarah; Lilley, Kathryn S.; Jackson, Antony P.

    2015-01-01

    Within cells, proteins can co-assemble into functionally integrated and spatially restricted multicomponent complexes. Often, the affinities between individual proteins are relatively weak, and proteins within such clusters may interact only indirectly with many of their other protein neighbors. This makes proteomic characterization difficult using methods such as immunoprecipitation or cross-linking. Recently, several groups have described the use of enzyme-catalyzed proximity labeling reagents that covalently tag the neighbors of a targeted protein with a small molecule such as fluorescein or biotin. The modified proteins can then be isolated by standard pulldown methods and identified by mass spectrometry. Here we will describe the techniques as well as their similarities and differences. We discuss their applications both to study protein assemblies and to provide a new way for characterizing organelle proteomes. We stress the importance of proteomic quantitation and independent target validation in such experiments. Furthermore, we suggest that there are biophysical and cell-biological principles that dictate the appropriateness of enzyme-catalyzed proximity labeling methods to address particular biological questions of interest. PMID:26355100

  12. Ash Aggregates in Proximal Settings

    NASA Astrophysics Data System (ADS)

    Porritt, L. A.; Russell, K.

    2012-12-01

    Ash aggregates are thought to have formed within and been deposited by the eruption column and plume and dilute density currents and their associated ash clouds. Moist, turbulent ash clouds are considered critical to ash aggregate formation by facilitating both collision and adhesion of particles. Consequently, they are most commonly found in distal deposits. Proximal deposits containing ash aggregates are less commonly observed but do occur. Here we describe two occurrences of vent proximal ash aggregate-rich deposits; the first within a kimberlite pipe where coated ash pellets and accretionary lapilli are found within the intra-vent sequence; and the second in a glaciovolcanic setting where cored pellets (armoured lapilli) occur within <1 km of the vent. The deposits within the A418 pipe, Diavik Diamond Mine, Canada, are the residual deposits within the conduit and vent of the volcano and are characterised by an abundance of ash aggregates. Coated ash pellets are dominant but are followed in abundance by ash pellets, accretionary lapilli and rare cored pellets. The coated ash pellets typically range from 1 - 5 mm in diameter and have core to rim ratios of approximately 10:1. The formation and preservation of these aggregates elucidates the style and nature of the explosive phase of kimberlite eruption at A418 (and other pipes?). First, these pyroclasts dictate the intensity of the kimberlite eruption; it must be energetic enough to cause intense fragmentation of the kimberlite to produce a substantial volume of very fine ash (<62 μm). Secondly, the ash aggregates indicate the involvement of moisture coupled with the presence of dilute expanded eruption clouds. The structure and distribution of these deposits throughout the kimberlite conduit demand that aggregation and deposition operate entirely within the confines of the vent; this indicates that aggregation is a rapid process. Ash aggregates within glaciovolcanic sequences are also rarely documented. The

  13. Quantification of the Interrelationship between Brachial-Ankle and Carotid-Femoral Pulse Wave Velocity in a Workplace Population

    PubMed Central

    Cheng, Yi-Bang; Li, Yan; Sheng, Chang-Sheng; Huang, Qi-Fang; Wang, Ji-Guang

    2016-01-01

    Background Brachial-ankle pulse wave velocity (PWV) is increasingly used for the measurement of arterial stiffness. In the present study, we quantified the interrelationship between brachial-ankle and carotid-femoral PWV in a workplace population, and investigated the associations with cardiovascular risk factors and carotid intima-media thickness (IMT). Methods Brachial-ankle and carotid-femoral PWV were measured using the Omron-Colin VP1000 and SphygmoCor devices, respectively. We investigated the interrelationship by the Pearson's correlation analysis and Bland-Altman plot, and performed sensitivity and specificity analyses. Results The 954 participants (mean ± standard deviation age 42.6 ± 14.2 years) included 630 (66.0%) men and 203 (21.3%) hypertensive patients. Brachial-ankle (13.4 ± 2.7 m/s) and carotid-femoral PWV (7.3 ± 1.6 m/s) were significantly correlated in all subjects (r = 0.75) as well as in men (r = 0.72) and women (r = 0.80) separately. For arterial stiffness defined as a carotid-femoral PWV of 10 m/s or higher, the sensitivity and specificity of brachial-ankle PWV of 16.7 m/s or higher were 72 and 94%, respectively. The area under the receiver operating characteristic curve was 0.953. In multiple stepwise regression, brachial-ankle and carotid-femoral PWV were significantly (p < 0.001) associated with age (partial r = 0.33 and 0.34, respectively) and systolic blood pressure (partial r = 0.71 and 0.66, respectively). In addition, brachial-ankle and carotid-femoral PWV were significantly (p < 0.001) associated with carotid IMT (r = 0.57 and 0.55, respectively) in unadjusted analysis, but not in analysis adjusted for cardiovascular risk factors (p ≥ 0.08). Conclusions Brachial-ankle and carotid-femoral PWV were closely correlated, and had similar determinants. Brachial-ankle PWV can behave as an ease-of-use alternative measure of arterial stiffness for assessing cardiovascular risk. PMID:27195246

  14. De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.

    PubMed

    Leblond, Claire S; Webber, Alina; Gan-Or, Ziv; Moore, Fraser; Dagher, Alain; Dion, Patrick A; Rouleau, Guy A

    2016-04-01

    Juvenile amyotrophic lateral sclerosis (jALS) is characterized by progressive upper and lower motor neuron degeneration leading to facial muscle spasticity, spastic dysarthria, and spastic gait with an early onset (before 25 years old). Unlike adult-onset amyotrophic lateral sclerosis (ALS), patients with jALS tend to have slower progression of motor neuron disease and prolonged survival to a normal life expectancy. Mutations in FUS gene have been reported in jALS,(1) including p.P525L mutation that has been consistently associated with early onset and aggressive presentation.(2) Here, we report a patient carrying p.P525L FUS mutation and experiencing an aggressive course of ALS presenting with dysphonia and diplopia. PMID:27123482

  15. Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease.

    PubMed

    Ahuja, Anami; Dev, Kapil; Tanwar, Ranjeet S; Selwal, Krishan K; Tyagi, Pankaj K

    2015-01-01

    Copper (Cu) is a vital redox dynamic metal that is possibly poisonous in superfluous. Metals can traditionally or intricately cause propagation in reactive oxygen species (ROS) accretion in cells and this may effect in programmed cell death. Accumulation of Cu causes necrosis that looks to be facilitated by DNA damage, followed by activation of P53. Cu dyshomeostasis has also been concerned in neurodegenerative disorders such as Alzheimer, Amyotrophic lateral sclerosis (ALS) or Menkes disease and is directly related to neurodegenerative syndrome that usually produces senile dementia. These mortal syndromes are closely related with an immense damage of neurons and synaptic failure in the brain. This review focuses on copper mediated neurological disorders with insights into amyotrophic lateral sclerosis, Alzheimer and Menkes disease.

  16. [Diagnostic Criteria for Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex in the Kii Peninsula, Japan].

    PubMed

    Kokubo, Yasumasa

    2015-07-01

    The diagnostic criteria for amyotrophic lateral sclerosis/parkinsonism-dementia complex in the Kii peninsula of Japan (Kii ALS/PDC) have been proposed. Muro disease has been considered an endemic neurodegenerative disease in the southern part of the Kii peninsula. Recent intensive and comprehensive research has revealed it to be a complex and genetically heterogeneous disease. At present, there are four subtypes of Muro disease: sporadic amyotrophic lateral sclerosis (ALS), Kii ALS/PDC with tauopathy, ALS with C9orf72 gene mutation, and ALS with optineurin gene mutation. The present criteria are applicable to only one of these subtypes, Kii ALS/PDC with tauopathy, which is quite similar to ALS/PDC in Guam.

  17. Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease.

    PubMed

    Ahuja, Anami; Dev, Kapil; Tanwar, Ranjeet S; Selwal, Krishan K; Tyagi, Pankaj K

    2015-01-01

    Copper (Cu) is a vital redox dynamic metal that is possibly poisonous in superfluous. Metals can traditionally or intricately cause propagation in reactive oxygen species (ROS) accretion in cells and this may effect in programmed cell death. Accumulation of Cu causes necrosis that looks to be facilitated by DNA damage, followed by activation of P53. Cu dyshomeostasis has also been concerned in neurodegenerative disorders such as Alzheimer, Amyotrophic lateral sclerosis (ALS) or Menkes disease and is directly related to neurodegenerative syndrome that usually produces senile dementia. These mortal syndromes are closely related with an immense damage of neurons and synaptic failure in the brain. This review focuses on copper mediated neurological disorders with insights into amyotrophic lateral sclerosis, Alzheimer and Menkes disease. PMID:24975171

  18. Blockade of the brachial plexus abolishes activation of specific brain regions by electroacupuncture at LI4: a functional MRI study

    PubMed Central

    Gu, Weidong; Jiang, Wei; He, Jingwei; Liu, Songbin; Wang, Zhaoxin

    2015-01-01

    Objective Our aim was to test the hypothesis that electroacupuncture (EA) at acupuncture point LI4 activates specific brain regions by nerve stimulation that is mediatied through a pathway involving the brachial plexus. Methods Twelve acupuncture naive right-handed volunteers were allocated to receive three sessions of EA at LI4 in a random different order (crossover): (1) EA alone (EA); EA after injection of local anaesthetics into the deltoid muscle (EA+LA); and (3) EA after blockade of the brachial plexus (EA+NB). During each session, participants were imaged in a 3 T MRI scanner. Brain regions showing change in blood oxygen level-dependent (BOLD) signal (activation) were identified. Subjective acupuncture sensation was quantified after functional MRI scanning was completed. Results were compared between the three sessions for each individual, and averaged. Results Blockade of the brachial plexus inhibited acupuncture sensation during EA. EA and EA+LA activated the bilateral thalamus, basal ganglia, cerebellum and left putamen, whilst no significant activation was observed during EA+NB. The BOLD signal of the thalamus correlated significantly with acupuncture sensation score during EA. Conclusions Blockade of the brachial plexus completely abolishes patterns of brain activation induced by EA at LI4. The results suggest that EA activates specific brain regions through stimulation of the local nerves supplying the tissues at LI4, which transmit sensory information via the brachial plexus. Trial registration number ChiCTR-OO-13003389. PMID:26464415

  19. Proximity effect correction sensitivity analysis

    NASA Astrophysics Data System (ADS)

    Zepka, Alex; Zimmermann, Rainer; Hoppe, Wolfgang; Schulz, Martin

    2010-05-01

    Determining the quality of a proximity effect correction (PEC) is often done via 1-dimensional measurements such as: CD deviations from target, corner rounding, or line-end shortening. An alternative approach would compare the entire perimeter of the exposed shape and its original design. Unfortunately, this is not a viable solution as there is a practical limit to the number of metrology measurements that can be done in a reasonable amount of time. In this paper we make use of simulated results and introduce a method which may be considered complementary to the standard way of PEC qualification. It compares simulated contours with the target layout via a Boolean XOR operation with the area of the XOR differences providing a direct measure of how close a corrected layout approximates the target.

  20. Proximity and emergency department use

    PubMed Central

    Bergeron, Patrick; Courteau, Josiane; Vanasse, Alain

    2015-01-01

    Abstract Objective To determine if geographic proximity to an emergency department (ED) is related to ED use in a metropolitan population of patients with cardiovascular risk factors. Design Population-based, retrospective cohort study. Setting The census metropolitan area of Montreal, Que. Participants Cohort of 99 400 patients with diabetes, hypertension, or dyslipidemia in 2007 without a history of cardiovascular disease. Each patient was spatially referred to 1 of 5857 dissemination areas (DAs). Main outcome measures Annual number of visits to an ED with respect to the distance between the centroid of a patient’s DA and the closest ED, controlling for age, sex, comorbidities, and neighbourhood immigration, social, and material characteristics. Multilevel logistic and negative binomial regressions were used to determine if the proximity to the closest ED was related to ED use, frequent ED use (≥ 4 visits in a year), and number of ED visits. Results A total of 25 889 (26.0%) patients in the cohort visited an ED at least once during a 1-year period, among which 4563 (4.6%) were frequent users with at least 4 visits. These frequent users were responsible for 28 249 (45.5%) of all 62 021 visits to EDs. The distance between a DA and its closest ED was significantly and negatively correlated with ED use (P < .001), even after controlling for confounding variables. Patients living in a DA close to an ED were also more likely to be frequent users, but the extent of use among them (range from 4 to 82 ED visits) was not related to the distance to the closest ED. Conclusion These results suggest that patients at risk of cardiovascular disease living in a metropolitan area are more likely to seek a medical encounter at the ED if they live closer to it. PMID:26505061

  1. Cognitive and behavioural deficits associated with the orbitomedial prefrontal cortex in amyotrophic lateral sclerosis.

    PubMed

    Meier, Sandra L; Charleston, Alison J; Tippett, Lynette J

    2010-11-01

    Amyotrophic lateral sclerosis, a progressive disease affecting motor neurons, may variably affect cognition and behaviour. We tested the hypothesis that functions associated with orbitomedial prefrontal cortex are affected by evaluating the behavioural and cognitive performance of 18 participants with amyotrophic lateral sclerosis without dementia and 18 healthy, matched controls. We measured Theory of Mind (Faux Pas Task), emotional prosody recognition (Aprosodia Battery), reversal of behaviour in response to changes in reward (Probabilistic Reversal Learning Task), decision making without risk (Holiday Apartment Task) and aberrant behaviour (Neuropsychiatric Inventory). We also assessed dorsolateral prefrontal function, using verbal and written fluency and planning (One-touch Stockings of Cambridge), to determine whether impairments in tasks sensitive to these two prefrontal regions co-occur. The patient group was significantly impaired at identifying social faux pas, recognizing emotions and decision-making, indicating mild, but consistent impairment on most measures sensitive to orbitomedial prefrontal cortex. Significant levels of aberrant behaviour were present in 50% of patients. Patients were also impaired on verbal fluency and planning. Individual subject analyses involved computing classical dissociations between tasks sensitive to different prefrontal regions. These revealed heterogeneous patterns of impaired and spared cognitive abilities: 33% of participants had classical dissociations involving orbitomedial prefrontal tasks, 17% had classical dissociations involving dorsolateral prefrontal tasks, 22% had classical dissociations between tasks of both regions, and 28% had no classical dissociations. These data indicate subtle changes in behaviour, emotional processing, decision-making and altered social awareness, associated with orbitomedial prefrontal cortex, may be present in a significant proportion of individuals with amyotrophic lateral sclerosis

  2. An Overview of Potential Targets for Treating Amyotrophic Lateral Sclerosis and Huntington's Disease

    PubMed Central

    de Paula, Caroline Zocatelli; Gonçalves, Bruno Daniel Correia; Vieira, Luciene Bruno

    2015-01-01

    Neurodegenerative diseases affect millions of people worldwide. Progressive damage or loss of neurons, neurodegeneration, has severe consequences on the mental and physical health of a patient. Despite all efforts by scientific community, there is currently no cure or manner to slow degeneration progression. We review some treatments that attempt to prevent the progress of some of major neurodegenerative diseases: Amyotrophic Lateral Sclerosis and Huntington's disease. PMID:26295035

  3. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

    PubMed Central

    Feit, Howard; Renton, Alan E.; Pliner, Hannah A.; Abramzon, Yevgeniya; Marangi, Giuseppe; Winborn, Brett J.; Gibbs, J Raphael; Nalls, Michael A.; Morgan, Sarah; Shoai, Maryam; Hardy, John; Pittman, Alan; Orrell, Richard W.; Malaspina, Andrea; Sidle, Katie C.; Fratta, Pietro; Harms, Matthew B.; Baloh, Robert H.; Pestronk, Alan; Weihl, Conrad C.; Rogaeva, Ekaterina; Zinman, Lorne; Drory, Vivian E.; Borghero, Giuseppe; Mora, Gabriele; Calvo, Andrea; Rothstein, Jeffrey D.; Drepper, Carsten; Sendtner, Michael; Singleton, Andrew B.; Taylor, J. Paul; Cookson, Mark R.

    2014-01-01

    MATR3 is an RNA/DNA binding protein that interacts with TDP-43, a major disease protein linked to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in the spinal cords of ALS cases with and without MATR3 mutations. Our data provide additional evidence supporting the role of aberrant RNA processing in motor neuron degeneration. PMID:24686783

  4. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

    PubMed

    Bannwarth, Sylvie; Ait-El-Mkadem, Samira; Chaussenot, Annabelle; Genin, Emmanuelle C; Lacas-Gervais, Sandra; Fragaki, Konstantina; Berg-Alonso, Laetitia; Kageyama, Yusuke; Serre, Valérie; Moore, David G; Verschueren, Annie; Rouzier, Cécile; Le Ber, Isabelle; Augé, Gaëlle; Cochaud, Charlotte; Lespinasse, Françoise; N'Guyen, Karine; de Septenville, Anne; Brice, Alexis; Yu-Wai-Man, Patrick; Sesaki, Hiromi; Pouget, Jean; Paquis-Flucklinger, Véronique

    2014-08-01

    Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and myopathy. In all patients, muscle biopsy showed ragged-red and cytochrome c oxidase-negative fibres with combined respiratory chain deficiency and abnormal assembly of complex V. The multiple mitochondrial DNA deletions found in skeletal muscle revealed a mitochondrial DNA instability disorder. Patient fibroblasts present with respiratory chain deficiency, mitochondrial ultrastructural alterations and fragmentation of the mitochondrial network. Interestingly, expression of matrix-targeted photoactivatable GFP showed that mitochondrial fusion was not inhibited in patient fibroblasts. Using whole-exome sequencing we identified a missense mutation (c.176C>T; p.Ser59Leu) in the CHCHD10 gene that encodes a coiled-coil helix coiled-coil helix protein, whose function is unknown. We show that CHCHD10 is a mitochondrial protein located in the intermembrane space and enriched at cristae junctions. Overexpression of a CHCHD10 mutant allele in HeLa cells led to fragmentation of the mitochondrial network and ultrastructural major abnormalities including loss, disorganization and dilatation of cristae. The observation of a frontotemporal dementia-amyotrophic lateral sclerosis phenotype in a mitochondrial disease led us to analyse CHCHD10 in a cohort of 21 families with pathologically proven frontotemporal dementia-amyotrophic lateral sclerosis. We identified the same missense p.Ser59Leu mutation in one of these families. This work opens a novel field to explore the pathogenesis of the frontotemporal dementia-amyotrophic lateral sclerosis clinical spectrum by showing that mitochondrial disease may be at the origin of some of these

  5. Novel Neuroprotective Multicomponent Therapy for Amyotrophic Lateral Sclerosis Designed by Networked Systems

    PubMed Central

    Herrando-Grabulosa, Mireia; Mulet, Roger; Pujol, Albert; Mas, José Manuel; Navarro, Xavier; Aloy, Patrick; Coma, Mireia; Casas, Caty

    2016-01-01

    Amyotrophic Lateral Sclerosis is a fatal, progressive neurodegenerative disease characterized by loss of motor neuron function for which there is no effective treatment. One of the main difficulties in developing new therapies lies on the multiple events that contribute to motor neuron death in amyotrophic lateral sclerosis. Several pathological mechanisms have been identified as underlying events of the disease process, including excitotoxicity, mitochondrial dysfunction, oxidative stress, altered axonal transport, proteasome dysfunction, synaptic deficits, glial cell contribution, and disrupted clearance of misfolded proteins. Our approach in this study was based on a holistic vision of these mechanisms and the use of computational tools to identify polypharmacology for targeting multiple etiopathogenic pathways. By using a repositioning analysis based on systems biology approach (TPMS technology), we identified and validated the neuroprotective potential of two new drug combinations: Aliretinoin and Pranlukast, and Aliretinoin and Mefloquine. In addition, we estimated their molecular mechanisms of action in silico and validated some of these results in a well-established in vitro model of amyotrophic lateral sclerosis based on cultured spinal cord slices. The results verified that Aliretinoin and Pranlukast, and Aliretinoin and Mefloquine promote neuroprotection of motor neurons and reduce microgliosis. PMID:26807587

  6. Brachial-ankle pulse wave velocity as a predictor of mortality in elderly Chinese.

    PubMed

    Sheng, Chang-Sheng; Li, Yan; Li, Li-Hua; Huang, Qi-Fang; Zeng, Wei-Fang; Kang, Yuan-Yuan; Zhang, Lu; Liu, Ming; Wei, Fang-Fei; Li, Ge-Le; Song, Jie; Wang, Shuai; Wang, Ji-Guang

    2014-11-01

    Pulse wave velocity (PWV) is a measure of arterial stiffness and predicts cardiovascular events and mortality in the general population and various patient populations. In the present study, we investigated the predictive value of brachial-ankle PWV for mortality in an elderly Chinese population. Our study subjects were older (≥60 years) persons living in a suburban town of Shanghai. We measured brachial-ankle PWV using an automated cuff device at baseline and collected vital information till June 30, 2013, during follow-up. The 3876 participants (1713 [44.2%] men; mean [±SD] age, 68.1±7.3 years) included 2292 (59.1%) hypertensive patients. PWV was on average 17.8 (±4.0) m/s and was significantly (P<0.0001) associated with age (r=0.48) and in unadjusted analysis with all-cause (n=316), cardiovascular (n=148), stroke (n=46), and noncardiovascular mortality (n=168) during a median follow-up of 5.9 years. In further adjusted analysis, we studied the risk of mortality according to the decile distributions of PWV. Only the subjects in the top decile (23.3-39.3 m/s) had a significantly (P≤0.003) higher risk of all-cause mortality (hazard ratio relative to the whole study population, 1.56; 95% confidence interval, 1.16-2.08), especially in hypertensive patients (hazard ratio, 1.86; 95% confidence interval, 1.31-2.64; P=0.02 for the interaction between PWV and hypertension). Similar trends were observed for cardiovascular, stroke, and noncardiovascular mortality, although statistical significance was not reached (P≥0.08). In conclusion, brachial-ankle PWV predicts mortality in elderly Chinese on the conditions of markedly increased PWV and hypertension.

  7. Brachial plexus block using lidocaine/epinephrine or lidocaine/xylazine in fat-tailed sheep.

    PubMed

    Ghadirian, Safoura; Vesal, Nasser

    2013-01-01

    This blinded, randomized experimental study was designed to evaluate the analgesic effects of adding epinephrine or xylazine to lidocaine solution for brachial plexus block (BPB) in sheep. Nine healthy, fat-tailed female lambs (26.6 ± 1.5 kg) were randomly allocated into three groups: lidocaine 2%, 5 mg kg(-1) (LID, n = 6), lidocaine (5 mg kg(-1)) with epinephrine 5 µg mL(-1) (LIDEP, n = 6) or lidocaine (5 mg kg(-1)) with xylazine 0.05 mg kg(-1) (LIDXY, n = 6). Each animal was tested twice. The sheep received a total volume of 0.25 mL kg(-1) for BPB. A nerve stimulator was used to locate the nerves of the brachial plexus. Onset and duration of analgesia of the forelimb were evaluated using superficial and deep pin prick and pinching of skin with a hemostat clamp. Heart and respiratory rates, and rectal temperature were recorded before and at predetermined intervals following the completion of the block. Brachial administration of LID, LIDEP or LIDXY produced forelimb analgesia within 11.3, 11.0 and 7.0 minutes, respectively. The mean duration of analgesia was 100.0 min in LID and 133.2 min in LIDEP group. The mean duration of analgesia in LIDXY group (186.8 min) was significantly longer compared with LID group. In LIDEP group a significant increase in heart rate occurred 5 min after drug administration. Heart rate decreased from 35 to 80 min in sheep received LIDXY. In conclusion, the addition of xylazine to lidocaine solution for BBP provided a prolonged duration of action without any adverse effects in fat-tailed sheep. PMID:25653791

  8. Brachial plexus block using lidocaine/epinephrine or lidocaine/xylazine in fat-tailed sheep.

    PubMed

    Ghadirian, Safoura; Vesal, Nasser

    2013-01-01

    This blinded, randomized experimental study was designed to evaluate the analgesic effects of adding epinephrine or xylazine to lidocaine solution for brachial plexus block (BPB) in sheep. Nine healthy, fat-tailed female lambs (26.6 ± 1.5 kg) were randomly allocated into three groups: lidocaine 2%, 5 mg kg(-1) (LID, n = 6), lidocaine (5 mg kg(-1)) with epinephrine 5 µg mL(-1) (LIDEP, n = 6) or lidocaine (5 mg kg(-1)) with xylazine 0.05 mg kg(-1) (LIDXY, n = 6). Each animal was tested twice. The sheep received a total volume of 0.25 mL kg(-1) for BPB. A nerve stimulator was used to locate the nerves of the brachial plexus. Onset and duration of analgesia of the forelimb were evaluated using superficial and deep pin prick and pinching of skin with a hemostat clamp. Heart and respiratory rates, and rectal temperature were recorded before and at predetermined intervals following the completion of the block. Brachial administration of LID, LIDEP or LIDXY produced forelimb analgesia within 11.3, 11.0 and 7.0 minutes, respectively. The mean duration of analgesia was 100.0 min in LID and 133.2 min in LIDEP group. The mean duration of analgesia in LIDXY group (186.8 min) was significantly longer compared with LID group. In LIDEP group a significant increase in heart rate occurred 5 min after drug administration. Heart rate decreased from 35 to 80 min in sheep received LIDXY. In conclusion, the addition of xylazine to lidocaine solution for BBP provided a prolonged duration of action without any adverse effects in fat-tailed sheep.

  9. Range of motion and strength after surgery for brachial plexus birth palsy

    PubMed Central

    2011-01-01

    Background There is little information about the range of motion (ROM) and strength of the affected upper limbs of patients with permanent brachial plexus birth palsy. Patients and methods 107 patients who had brachial plexus surgery in Finland between 1971 and 1998 were investigated in this population-based, cross-sectional, 12-year follow-up study. During the follow-up, 59 patients underwent secondary procedures. ROM and isometric strength of the shoulders, elbows, wrists, and thumbs were measured. Ratios for ROM and strength between the affected and unaffected sides were calculated. Results 61 patients (57%) had no active shoulder external rotation (median 0° (-75–90)). Median active abduction was 90° (1–170). Shoulder external rotation strength of the affected side was diminished (median ratio 28% (0–83)). Active elbow extension deficiency was recorded in 82 patients (median 25° (5–80)). Elbow flexion strength of the affected side was uniformly impaired (median ratio 43% (0–79)). Median active extension of the wrist was 55° (-70–90). The median ratio of grip strength for the affected side vs. the unaffected side was 68% (0–121). Patients with total injury had poorer ROM and strength than those with C5–6 injury. Incongruity of the radiohumeral joint and avulsion were associated with poor strength values. Interpretation ROM and strength of affected upper limbs of patients with surgically treated brachial plexus birth palsy were reduced. Patients with avulsion injuries and/or consequent joint deformities fared worst. PMID:21142823

  10. Axillary brachial plexus block--an underused technique in the accident and emergency department.

    PubMed Central

    Mackay, C A; Bowden, D F

    1997-01-01

    OBJECTIVE: To compare axillary brachial plexus block and Bier's block as methods of providing upper limb anaesthesia. METHODS: Axillary brachial plexus or Bier's blocks were performed on all patients requiring upper limb anaesthesia in a three month period. For Bier's block, a single cuff tourniquet and 3 mg/kg 0.5% prilocaine were used. For axillary plexus block, 40 ml 1% lignocaine with adrenaline (1:200,000) were used, given by perivascular or transarterial technique. Prospective analysis was made of time to complete limb anaesthesia, type of procedure performed, and duration of limb anaesthesia. Patient perception of analgesia and satisfaction with the method of anaesthesia was assessed using a 10 point visual analogue scale. RESULTS: 75 patients underwent procedures requiring upper limb anaesthesia; 39 received axillary plexus block and 36 Bier's block. 72% of Bier's blocks and 77% of axillary plexus provided complete anaesthesia without the need for supplemental analgesia. The median time to onset of anaesthesia was 10 min for Bier's block and 32.5 min for axillary block (P < 0.001). The median duration of anaesthesia was 15 min for Bier's block and 240 min for axillary block (P < 0.001). Mean scores for analgesia were 9.7 for axillary blocks and 8.8 for Bier's block (P < 0.001). 87% of the axillary block group were completely satisfied with the method of anaesthesia, compared with 56% of the Bier's block group. CONCLUSIONS: Brachial plexus blocks are an alternative form of providing upper limb anaesthesia in the accident and emergency department. They are relatively simple to perform, well tolerated by patients, and have the advantage of providing prolonged analgesia without the need for additional medication. Images Figure 1 Figure 2 Figure 3 PMID:9248910

  11. Post-Exercise Ankle-Brachial Pressure Index Demonstrates Altered Endothelial Function in the Elderly

    PubMed Central

    Sato, Shinji; Masami, Kozue; Otsuki, Shingo; Tanaka, Shiro; Nakayama, Noriko; Makita, Shigeru; Koshiyama, Hiroyuki; Nohara, Ryuji

    2011-01-01

    Background: The ankle-brachial pressure index (ABI), the ratio of the systolic blood pressure of the ankle to the systolic brachial pressure, is commonly measured at rest, but ABI values post-exercise enhance the sensitivity of the test and can be used to identify atherosclerotic vascular damage. However, it has not been established whether or not enhanced post-exercise ABI is also associated with endothelial dysfunction. We hypothesized that a decrease in post-exercise ABI is related to impaired endothelial function. Purpose: To investigate alterations in post-exercise ABI values and endothelial dysfunction in the elderly. Methods: The study population comprised 35 men and women aged 51–77 years (mean age: 66 years). Patients with peripheral arterial disease or a history of heart failure were excluded. The ABI was estimated at rest and immediately after exercise. The exercise protocol comprised 2.5 min of active pedal flexion exercises at a speed of 60 times/min. Endothelial function was assessed by measuring flow-mediated vasodilation (FMD) in the brachial artery using ultrasound imaging. Results: No correlation was found between FMD and the ABI at rest. However, a weak correlation was found between FMD and post-exercise ABI (r = 0.46, P = 0.06). A strong correlation was observed between FMD and a decrease in post-exercise ABI compared to baseline readings (r = −0.52, P = 0.01). Multiple linear regression analysis was used to generate a prediction equation for FMD using the percentage decrease in post-exercise ABI. Significant correlations were observed between the ultrasound imaging-measured FMD and the predicted FMD (R2 = 0.27, P = 0.001). Conclusions: Post-exercise ABI appears to be a simple surrogate marker for endothelial function in the elderly, although larger studies are required for validation. PMID:23885186

  12. Décompression chirurgicale du syndrome de défilé thoraco-brachial

    PubMed Central

    Lukulunga, Loubet Unyendje; Moussa, Abdou Kadri; Mahfoud, Mustapha; Ismael, Farid; Berrada, Mohamed Saleh; El Yaacoubi, Moradh

    2014-01-01

    Le syndrome de défilé thoraco-brachial est une pathologie souvent méconnue à cause de diagnostic difficile par manque des signes pathognomoniques conduisant souvent à des errances. Les manifestations cliniques dépendent selon qu'il s'agit d'une compression nerveuse, vasculaire ou vasculo-nerveuse. Le but de cette étude est de décrire certains aspects cliniques particuliers et évaluer le résultat fonctionnel après la décompression chirurgicale du paquet vasculo-nerveux. Notre étude rétrospective a porté sur l'analyse des données cliniques, radiologiques, IRM et EMG sur les patients opérés entre janvier 2010 et juillet 2013 du syndrome de défilé thoraco-brachial dans le service de traumatologie orthopédie de l'hôpital Ibn Sina de Rabat. 15 cas ont été colligés: 12 cas post traumatiques (fracture de la clavicule) et 3 cas d'origines congénitales, dont l’âge moyen était 35 ans (20 à 50 ans) avec 9 femmes et 6 hommes. A la fin du traitement, le score de Dash est passé de 109 (46% Normal=0) à 70 (20%), et le stress test de Roos était de 70/100 à 80/100. Le résultat était excellent dans 12 cas soit (80%) et moins bon dans dans 3 cas (20%). En définitive, la résection de malformations osseuses, l'excision des brides et la neurolyse du plexus brachial suivie de la rééducation a donné une bonne évolution fonctionnelle. PMID:25709735

  13. Estimation of central aortic pressure waveform features derived from the brachial cuff volume displacement waveform.

    PubMed

    Butlin, Mark; Qasem, Ahmad; Avolio, Alberto P

    2012-01-01

    There is increasing interest in non-invasive estimation of central aortic waveform parameters in the clinical setting. However, controversy has arisen around radial tonometric based systems due to the requirement of a trained operator or lack of ease of use, especially in the clinical environment. A recently developed device utilizes a novel algorithm for brachial cuff based assessment of aortic pressure values and waveform (SphygmoCor XCEL, AtCor Medical). The cuff was inflated to 10 mmHg below an individual's diastolic blood pressure and the brachial volume displacement waveform recorded. The aortic waveform was derived using proprietary digital signal processing and transfer function applied to the recorded waveform. The aortic waveform was also estimated using a validated technique (radial tonometry based assessment, SphygmoCor, AtCor Medical). Measurements were taken in triplicate with each device in 30 people (17 female) aged 22 to 79 years of age. An average for each device for each individual was calculated, and the results from the two devices were compared using regression and Bland-Altman analysis. A high correlation was found between the devices for measures of aortic systolic (R(2)=0.99) and diastolic (R(2)=0.98) pressure. Augmentation index and subendocardial viability ratio both had a between device R(2) value of 0.82. The difference between devices for measured aortic systolic pressure was 0.5±1.8 mmHg, and for augmentation index, 1.8±7.0%. The brachial cuff based approach, with an individualized sub-diastolic cuff pressure, provides an operator independent method of assessing not only systolic pressure, but also aortic waveform features, comparable to existing validated tonometric-based methods.

  14. Brachial Plexopathy in Apical Non-Small Cell Lung Cancer Treated With Definitive Radiation: Dosimetric Analysis and Clinical Implications

    SciTech Connect

    Eblan, Michael J.; Corradetti, Michael N.; Lukens, J. Nicholas; Xanthopoulos, Eric; Mitra, Nandita; Christodouleas, John P.; Grover, Surbhi; Fernandes, Annemarie T.; Langer, Corey J.; Evans, Tracey L.; Stevenson, James; Rengan, Ramesh; Apisarnthanarax, Smith

    2013-01-01

    Purpose: Data are limited on the clinical significance of brachial plexopathy in patients with apical non-small cell lung cancers (NSCLC) treated with definitive radiation therapy. We report the rates of radiation-induced brachial plexopathy (RIBP) and tumor-related brachial plexopathy (TRBP) and associated dosimetric parameters in apical NSCLC patients. Methods and Materials: Charts of NSCLC patients with primary upper lobe or superiorly located nodal disease who received {>=}50 Gy of definitive conventionally fractionated radiation or chemoradiation were retrospectively reviewed for evidence of brachial plexopathy and categorized as RIBP, TRBP, or trauma-related. Dosimetric data were gathered on ipsilateral brachial plexuses (IBP) contoured according to Radiation Therapy Oncology Group atlas guidelines. Results: Eighty patients were identified with a median follow-up and survival time of 17.2 and 17.7 months, respectively. The median prescribed dose was 66.6 Gy (range, 50.4-84.0), and 71% of patients received concurrent chemotherapy. RIBP occurred in 5 patients with an estimated 3-year rate of 12% when accounting for competing risk of death. Seven patients developed TRBP (estimated 3-year rate of 13%), comprising 24% of patients who developed locoregional failures. Grade 3 brachial plexopathy was more common in patients who experienced TRBP than RIBP (57% vs 20%). No patient who received {<=}78 Gy to the IBP developed RIBP. On multivariable competing risk analysis, IBP V76 receiving {>=}1 cc, and primary tumor failure had the highest hazard ratios for developing RIBP and TRBP, respectively. Conclusions: RIBP is a relatively uncommon complication in patients with apical NSCLC tumors receiving definitive doses of radiation, while patients who develop primary tumor failures are at high risk for developing morbid TRBP. These findings suggest that the importance of primary tumor control with adequate doses of radiation outweigh the risk of RIBP in this population of

  15. Humeral rotational osteotomy for shoulder deformity in obstetric brachial plexus palsy: which direction should I rotate?

    PubMed

    Abdelgawad, Amr A; Pirela-Cruz, Miguel A

    2014-01-01

    Shoulder internal rotation contracture is the most common deformity affecting the shoulder in patients with Obstetric Brachial Plexus Palsy. With progression of the deformity, the glenohumeral joint starts to subluxate and then dislocates. This is accompanied with bony changes of both the humerus and the glenoid. Two opposite direction humeral osteotomies have been proposed for this condition (internal rotation osteotomy (IRO) and external rotation osteotomy (ERO)). This fact of different direction osteotomies has not adequately been explained in the literature. Most orthopedic surgeons may not be able to fully differentiate between these two osteotomies regarding the indications, outcomes and effects on the joint. This review explains these differences in details.

  16. Dorsal root entry zone lesions (Nashold's procedure) for pain relief following brachial plexus avulsion.

    PubMed Central

    Thomas, D G; Sheehy, J P

    1983-01-01

    Brachial plexus avulsion is an important cause of severe intractable pain, particularly in young motor cyclists. The pain usually develops soon after the injury. In a minority of cases severe pain persists and is refractory to management. Nineteen patients are reviewed in whom dorsal root entry zone lesions have been produced for pain relief. The operative technique is described. Early post-operative motor or sensory disturbance in the ipsilateral leg have been temporary side effects, with mild persisting deficits in a minority. Sixteen cases have had significant persisting pain relief. The maximum follow-up period is 2 1/2 years. Images PMID:6644316

  17. Arthroscopic Release of Adhesive Capsulitis of the Shoulder Complicated With Shoulder Dislocation and Brachial Plexus Injury.

    PubMed

    Nunez, Fiesky A; Papadonikolakis, Anastasios; Li, Zhongyu

    2016-01-01

    The incidence of brachial plexus injury after shoulder dislocation or arthroscopic shoulder surgery is low. Complex regional pain syndrome (CRPS) is an uncommon but painful condition that can develop after nerve injury. Historically, CRPS has been difficult to treat and therapeutic efforts are sometimes limited to ameliorating symptoms. However, if a dystrophic focus can be identified, the condition can be addressed with surgical exploration for potential neurolysis or nerve repair. The present article reports on a case of type II CRPS that developed in the postoperative setting of arthroscopic shoulder surgery complicated with simple shoulder dislocation. PMID:27518297

  18. Brachial artery injury due to closed posterior elbow dislocation: case report☆

    PubMed Central

    Miyazaki, Alberto Naoki; Fregoneze, Marcelo; Santos, Pedro Doneux; do Val Sella, Guilherme; Checchia, Caio Santos; Checchia, Sergio Luiz

    2016-01-01

    An association between closed posterior elbow dislocation and traumatic brachial artery injury is rare. Absence of radial pulse on palpation is an important warning sign and arteriography is the gold-standard diagnostic test. Early diagnosis is essential for appropriate treatment to be provided. This consists of joint reduction and immobilization, along with urgent surgical restoration of arterial flow. Here, a case (novel to the Brazilian literature) of an association between these injuries (and the treatment implemented) in a 27-year-old male patient is reported. These injuries were sustained through physical assault. PMID:27069896

  19. Thrombin Injection for Treatment of Brachial Artery Pseudoaneurysm at the Site of a Hemodialysis Fistula: Report of Two Patients

    SciTech Connect

    Clark, Timothy W.I.; Abraham, Robert J.

    2000-09-15

    We report two patients with arteriovenous hemodialysis fistulas that were complicated by brachial artery pseudoaneurysms. Each pseudoanerysm was percutaneously thrombosed with an injection of thrombin, using techniques to prevent escape of thrombin into the native brachial artery. In one patient, an angioplasty balloon was inflated across the neck of the aneurysm during thrombin injection. In the second patient, thrombin was injected during ultrasound-guided compression of the neck of the pseudoaneurysm. Complete thrombosis of each pseudoaneurysm was achieved within 30 sec. No ischemic or embolic events occurred. This technique may be useful in treating pseudoaneurysms of smaller peripheral arteries.

  20. Brachial blood pressure-independent relations between radial late systolic shoulder-derived aortic pressures and target organ changes.

    PubMed

    Norton, Gavin R; Majane, Olebogeng H I; Maseko, Muzi J; Libhaber, Carlos; Redelinghuys, Michelle; Kruger, Deirdre; Veller, Martin; Sareli, Pinhas; Woodiwiss, Angela J

    2012-04-01

    Central aortic blood pressure (BP; BPc) predicts outcomes beyond brachial BP. In this regard, the application of a generalized transfer function (GTF) to radial pulse waves for the derivation of BPc is an easy and reproducible measurement technique. However, the use of the GTF may not be appropriate in all circumstances. Although the peak of the second shoulder of the radial waveform (P2) is closely associated with BPc, and, hence, BPc may be assessed without the need for a GTF, whether P2-derived BPc is associated with adverse cardiovascular changes independent of brachial BP is uncertain. Thus, P2- and GTF-derived aortic BPs were assessed using applanation tonometry and SphygmoCor software. Left ventricular mass was indexed for height(1.7) (n=678) and carotid intima-media thickness (IMT; n=462) was determined using echocardiography and vascular ultrasound. With adjustments for nurse-derived brachial pulse pressure (PP), P2-derived central PP was independently associated with left ventricular mass indexed for height(1.7) (partial r=0.18; P<0.0001) and IMT (partial r=0.40; P<0.0001). These relations were similar to nurse-derived brachial PP-independent relations between GTF-derived central PP and target organ changes (left ventricular mass indexed for height(1.7): partial r=0.17, P<0.0001; IMT: partial r=0.37, P<0.0001). In contrast, with adjustments for central PP, nurse-derived brachial PP-target organ relations were eliminated (partial r=-0.21 to 0.05). Twenty-four-hour, day, and night PP-target organ relations did not survive adjustments for nurse-derived brachial BP. In conclusion, central PP derived from P2, which does not require a GTF, is associated with cardiovascular target organ changes independent of brachial BP. Thus, when assessing adverse cardiovascular effects of aortic BP independent of brachial BP, P2-derived measures may complement GTF-derived measures of aortic BP.

  1. Range gated strip proximity sensor

    DOEpatents

    McEwan, Thomas E.

    1996-01-01

    A range gated strip proximity sensor uses one set of sensor electronics and a distributed antenna or strip which extends along the perimeter to be sensed. A micro-power RF transmitter is coupled to the first end of the strip and transmits a sequence of RF pulses on the strip to produce a sensor field along the strip. A receiver is coupled to the second end of the strip, and generates a field reference signal in response to the sequence of pulse on the line combined with received electromagnetic energy from reflections in the field. The sensor signals comprise pulses of radio frequency signals having a duration of less than 10 nanoseconds, and a pulse repetition rate on the order of 1 to 10 MegaHertz or less. The duration of the radio frequency pulses is adjusted to control the range of the sensor. An RF detector feeds a filter capacitor in response to received pulses on the strip line to produce a field reference signal representing the average amplitude of the received pulses. When a received pulse is mixed with a received echo, the mixing causes a fluctuation in the amplitude of the field reference signal, providing a range-limited Doppler type signature of a field disturbance.

  2. Range gated strip proximity sensor

    DOEpatents

    McEwan, T.E.

    1996-12-03

    A range gated strip proximity sensor uses one set of sensor electronics and a distributed antenna or strip which extends along the perimeter to be sensed. A micro-power RF transmitter is coupled to the first end of the strip and transmits a sequence of RF pulses on the strip to produce a sensor field along the strip. A receiver is coupled to the second end of the strip, and generates a field reference signal in response to the sequence of pulse on the line combined with received electromagnetic energy from reflections in the field. The sensor signals comprise pulses of radio frequency signals having a duration of less than 10 nanoseconds, and a pulse repetition rate on the order of 1 to 10 MegaHertz or less. The duration of the radio frequency pulses is adjusted to control the range of the sensor. An RF detector feeds a filter capacitor in response to received pulses on the strip line to produce a field reference signal representing the average amplitude of the received pulses. When a received pulse is mixed with a received echo, the mixing causes a fluctuation in the amplitude of the field reference signal, providing a range-limited Doppler type signature of a field disturbance. 6 figs.

  3. Proximal Priority Laser Therapy: PPLT

    NASA Astrophysics Data System (ADS)

    Ohshiro, Toshio

    2004-09-01

    The author has, in the past, classified treatment methods for pain geometrically as point, line, two-dimensional, three-dimensional treatment and has used these over the years. However as a practitioner of western medicine, the author originally treated pain only directed at the painful site, and encountered cases where local treatment did not suffice. The author proved with SPECT and the Rand Phantom that treating the neck which is the midpoint of the brain, the center of the nervous system and the heart, the center of circulation, increased cerebral blood flow and also that laser emitted to neck will reach the spinal chord no matter from where on the neck the laser is emitted. From such research and 25 years of clinical experience, the author has created an anatomy based, systemic treatment method called the Proximal Priority Laser Therapy (PPLT) where not only the cerebral cortex, spinal chord and peripheral nerves are treated but also the tracts of blood vessels and lymph ducts are treated as well. Treatment method and cases are presented herein.

  4. System xC- is a mediator of microglial function and its deletion slows symptoms in amyotrophic lateral sclerosis mice.

    PubMed

    Mesci, Pinar; Zaïdi, Sakina; Lobsiger, Christian S; Millecamps, Stéphanie; Escartin, Carole; Seilhean, Danielle; Sato, Hideyo; Mallat, Michel; Boillée, Séverine

    2015-01-01

    Amyotrophic lateral sclerosis is the most common adult-onset motor neuron disease and evidence from mice expressing amyotrophic lateral sclerosis-causing SOD1 mutations suggest that neurodegeneration is a non-cell autonomous process where microglial cells influence disease progression. However, microglial-derived neurotoxic factors still remain largely unidentified in amyotrophic lateral sclerosis. With excitotoxicity being a major mechanism proposed to cause motor neuron death in amyotrophic lateral sclerosis, our hypothesis was that excessive glutamate release by activated microglia through their system [Formula: see text] (a cystine/glutamate antiporter with the specific subunit xCT/Slc7a11) could contribute to neurodegeneration. Here we show that xCT expression is enriched in microglia compared to total mouse spinal cord and absent from motor neurons. Activated microglia induced xCT expression and during disease, xCT levels were increased in both spinal cord and isolated microglia from mutant SOD1 amyotrophic lateral sclerosis mice. Expression of xCT was also detectable in spinal cord post-mortem tissues of patients with amyotrophic lateral sclerosis and correlated with increased inflammation. Genetic deletion of xCT in mice demonstrated that activated microglia released glutamate mainly through system [Formula: see text]. Interestingly, xCT deletion also led to decreased production of specific microglial pro-inflammatory/neurotoxic factors including nitric oxide, TNFa and IL6, whereas expression of anti-inflammatory/neuroprotective markers such as Ym1/Chil3 were increased, indicating that xCT regulates microglial functions. In amyotrophic lateral sclerosis mice, xCT deletion surprisingly led to earlier symptom onset but, importantly, this was followed by a significantly slowed progressive disease phase, which resulted in more surviving motor neurons. These results are consistent with a deleterious contribution of microglial-derived glutamate during symptomatic

  5. Proximal Participation: A Pathway into Work

    ERIC Educational Resources Information Center

    Chan, Selena

    2013-01-01

    In a longitudinal case study of apprentices, the term proximal participation was coined to describe the entry process of young people, with unclear career destinations, into the trade of baking. This article unravels the significance of proximal participation in the decision-making processes of young people who enter a trade through initial…

  6. Grouping by proximity in haptic contour detection.

    PubMed

    Overvliet, Krista E; Krampe, Ralf Th; Wagemans, Johan

    2013-01-01

    We investigated the applicability of the Gestalt principle of perceptual grouping by proximity in the haptic modality. To do so, we investigated the influence of element proximity on haptic contour detection. In the course of four sessions ten participants performed a haptic contour detection task in which they freely explored a haptic random dot display that contained a contour in 50% of the trials. A contour was defined by a higher density of elements (raised dots), relative to the background surface. Proximity of the contour elements as well as the average proximity of background elements was systematically varied. We hypothesized that if proximity of contour elements influences haptic contour detection, detection will be more likely when contour elements are in closer proximity. This should be irrespective of the ratio with the proximity of the background elements. Results showed indeed that the closer the contour elements were, the higher the detection rates. Moreover, this was the case independent of the contour/background ratio. We conclude that the Gestalt law of proximity applies to haptic contour detection.

  7. Proximate Sources of Collective Teacher Efficacy

    ERIC Educational Resources Information Center

    Adams, Curt M.; Forsyth, Patrick B.

    2006-01-01

    Purpose: Recent scholarship has augmented Bandura's theory underlying efficacy formation by pointing to more proximate sources of efficacy information involved in forming collective teacher efficacy. These proximate sources of efficacy information theoretically shape a teacher's perception of the teaching context, operationalizing the difficulty…

  8. [Robot-assisted coelioscopic proximal tubal reanastomosis].

    PubMed

    Carbonnel, M; Roulot, A; Fay, S; Ayoubi, J-M

    2013-01-01

    We report two cases of robot-assisted coelioscopic proximal tubal reanastomosis after proximal tubal ligature. Patients were aged 43 and 34 years respectively and had previously undergone proximal tubal ligation by coagulation section at 37 years of age for the first patient, and by Filshie clip at 24 years for the second one. Both had regular menstrual cycles and their ovarian reserve was good. Their partners were presenting with normal sperm criteria. Proximal tubal reanastomosis was carried out in September 2010 by robotic coelioscopy with five extramucous vicryl 5-0 stitches on each tube and positive blue testing. Total durations of the interventions were 200 and 220minutes respectively. Postoperative outcomes were simple and patients had spontaneous pregnancy at 4 and 2.5 months respectively. Both pregnancies show normal progress currently. This is a contribution to literature data meant to determine the role of robotics in proximal tubal reanastomosis. PMID:22521989

  9. [In search of unknown aetiopathogenesis: from Henry Louis ("Lou") Gehrig to Gianluca Signorini: history of the link between amyotrophic lateral sclerosis and sport].

    PubMed

    Cristani, Alessandro; Romagnoli, Elisa

    2006-01-01

    From "Lou" Gehirg to Gianluca Signorini: the history of almost 70 years of link between amyotrophic lateral sclerosis and sport. From first intuitions and assumptions to late epidemiological evidences supporting the possible relation between Italian soccer and amyotrophic lateral sclerosis; comparison among old and new aetiopathogenetic hypothesis.

  10. Brachial plexus birth palsy: Management during the first year of life.

    PubMed

    Abid, A

    2016-02-01

    Brachial plexus birth palsy (BPBP) is defined as an injury to any nerve root of the brachial plexus during difficult delivery. BPBP is relatively rare; its incidence has remained constant over the last few decades, mostly due to unpredictable risk factors, such as shoulder dystocia. Both diagnosis and assessment of spontaneous recovery is based on clinical examination. Electromyography is difficult to interpret in the newborn and is therefore not meaningful. MRI of the cervical spine requires sedation or general anesthesia. Searching for a pre-ganglion tear prior to surgery is indicted. Prognosis depends on the level of the injury (pre- or post-ganglion), size and severity of the post-ganglion tears, speed of recovery, and quality of initial management. Although spontaneous recovery is frequent, some children suffer various degrees of sequelae, up to complete loss of function of the affected upper limb. Recent publications have improved general knowledge and indications for surgery. However, some aspects, such as indication and timing of nerve repair continue to be debated. PMID:26774906

  11. Occult rib fractures and brachial plexus injury following median sternotomy for open-heart operations.

    PubMed

    Baisden, C E; Greenwald, L V; Symbas, P N

    1984-09-01

    The incidence and the sites of rib fractures during open-heart operations through a median sternotomy incision were studied in 36 consecutive patients divided into two groups. In Group 1 (24 patients), a conventional Ankeney retractor was used to expose the heart, and in Group 2 (12 patients), a similar retractor was used but with its uppermost pair of blades removed. Thorough physical examinations and preoperative and postoperative chest roentgenograms were obtained, and postoperative bone scans were done in all patients. No rib fractures were detected on the routine chest roentgenograms in patients in either group. Bone scans, however, showed 44 rib fractures (15 of the first rib, 13 of the second rib, 4 of the third rib, 6 of the fourth rib, 3 of the fifth rib, and 3 of the sixth rib) in 16 patients in Group 1. Six patients in Group 2 had 9 rib fractures (2 of the first rib, 4 of the second rib, and 1 each of the third, fifth, and sixth ribs). None of the patients in Group 2 had brachial plexus injury and neither of the first rib fractures in this group were located posteriorly, whereas 3 patients in Group 1 had both brachial plexus injury and posterior first rib fractures.

  12. Brachial Artery Conductance During Reactive Hyperemia is Increased in Women with Polycystic Ovary Syndrome

    PubMed Central

    Raja-Khan, Nazia; Shuja, Showieb A.; Kunselman, Allen R.; Hogeman, Cynthia S.; Demers, Laurence M.; Gnatuk, Carol L.; Legro, Richard S.

    2010-01-01

    Objective To examine changes in brachial artery conductance (BAC) during reactive hyperemia in women with polycystic ovary syndrome (PCOS) compared to controls. Study Design This is a pilot case-control study performed at a single academic medical center. Changes in BAC during reactive hyperemia were evaluated in 31 women with PCOS and 11 healthy control women. Fasting glucose, insulin, lipids and androgen levels were also determined. A mixed-effects model was used to compare the PCOS curve to the control curve for change in BAC from baseline during reactive hyperemia. Results Body mass index (BMI) and testosterone levels were significantly increased in the PCOS group compared to controls (P < 0.05). In addition, the PCOS group had higher total and LDL cholesterol levels (P = 0.05 and 0.09, respectively). Change in BAC from baseline during reactive hyperemia was significantly increased in the PCOS group compared to controls even after adjusting for age, BMI and LDL cholesterol levels (P < 0.0001). There were no significant differences between the two groups in age, blood pressure, or fasting glucose or insulin levels. Conclusions Brachial artery conductance during reactive hyperemia is significantly increased in women with PCOS compared to controls and may be a novel early indicator of increased cardiovascular risk in women with PCOS. PMID:21112136

  13. Brachial artery Doppler flux parameters before and after hot flush in Mexican postmenopausal women: preliminary report

    PubMed Central

    Rodríguez, Karina Vázquez; Ortiz, Sergio Rosales

    2016-01-01

    Objective To analyse brachial artery flux parameters in postmenopausal women before and after hot flush. Material and methods Two groups of postmenopausal women were studied: Group I, without vasomotor symptoms (n = 10) and Group II, with vasomotor symptoms (n = 10). In all them a brachial artery Doppler ultrasound was done, measuring before and after hyperaemic stimulus of the arterial diameter (AD), the pulsatility index (PI), and the resistive index (RI). In Group I, measurements were done at baseline and five minutes after. In Group II, measurements were at baseline, and one and five minutes after the hot-flush. Comparison between the groups was done with Mann-Whitney U test, and within the groups with Wilcoxon test. Results No differences were found among the groups in Doppler parameters. When comparing each group separately, in Group I, at baseline and at five minutes measurements, the AD was greater after the hyperaemic stimulus than before it. In group II at baseline, the PI was significantly greater after the hyperaemic stimulus than before to it. At the first and fifth minute, the AD was significantly greater after the hyperaemic stimulus than before to it. Conclusions No differences were found between those who did not have and those who had hot flushes. PMID:27095957

  14. Ankle Brachial Index: simple non-invasive estimation of peripheral artery disease

    NASA Astrophysics Data System (ADS)

    Pieniak, Marcin; Cieślicki, Krzysztof; Żyliński, Marek; Górski, Piotr; Murgrabia, Agnieszka; Cybulski, Gerard

    2014-11-01

    According to international guidelines, patients with Peripheral Artery Disease (PAD) are burdened with high cardiovascular risk. One of the simplest, non-invasive methods for PAD detection is the ankle-brachial index (ABI) measurement. The ABI is calculated as the ratio of systolic blood pressure at the ankle (pressure in the posterior tibial artery or the dorsal artery) to the systolic pressure in the arm (in the brachial artery) when the body is in a horizontal position. The physiological value of the ABI is assumed to be between 1 and 1.3; however, these limits vary from study to study. A value less than 0.9 indicates PAD. Some authors propose also measuring the ABI on both sides of the body to highlight possible differences in blood pressure between the opposite arterial segments. The aim of this study was to perform a meta-analysis of the ABI diagnostic criteria used in different publications. Additionally, ABI measurements were performed on 19 healthy patients in age ranged from 20 to 63 years. The results showed a slight dependence between age and the differences between the values obtained from left and right sides of the body.

  15. Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report.

    PubMed

    Bonda, Chaitanya; Kolikonda, Murali K; Brown, Martin E; Lippmann, Steven

    2016-01-01

    Amyotrophic lateral sclerosis and frontotemporal dementia are significant neurodegenerative illnesses with possible genetic predispositions. The C9orf72 gene and the GGGGCC repeat expansions of it are reported to have a causative role in the expression of these conditions. We report a case of a patient with autosomal dominant amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) in the presence of C9orf72 repeat expansion. We believe our case further supports the theory that the presence of C9orf72 repeat expansion in patients with a family history of amyotrophic lateral sclerosis and/or frontotemporal dementia significantly increases their risk of developing either or both diseases. The development of antisense oligonucleotides that might target GGGGCC RNA sequences theoretically may have a therapeutic role in mitigating the clinical expression of these illnesses.

  16. Group A Streptococcal Suppurative Arthritis and Osteomyelitis of the Shoulder With Brachial Plexus Palsy in a Newborn.

    PubMed

    Dierig, Alexa; Ritz, Nicole; Tacke, Uta; Heininger, Ulrich

    2016-10-01

    Osteoarticular infections in the newborn period are rare. A serious complication is paralysis of the affected extremity resulting from either pain or direct involvement of the nerve. We report a newborn with combined osteomyelitis and suppurative arthritis caused by Streptococcus pyogenes presenting with right brachial plexus palsy. PMID:27622687

  17. [Self-mutilation of the hand in a girl with total, persistent obstetric brachial plexus palsy--case report].

    PubMed

    Sibiński, Marcin; Dorman, Tomsz; Synder, Marek

    2008-01-01

    A case of hand self-mutilation in six years old girl with totals persistent obstetric brachial plexus palsy was presented. Self-mutilation involved biting the tips of the digits what lead to removal of nail of IV finger and partial V finger distal phalanx amputation. Furthermore, possible etiology, mechanism, evaluation of this behavior and literature was discussed in the text. PMID:18847017

  18. Endogenous testosterone and brachial artery endothelial function in middle-aged men with symptoms of late-onset hypogonadism.

    PubMed

    Mäkinen, Juuso I; Perheentupa, Antti; Irjala, Kerttu; Pöllänen, Pasi; Mäkinen, Juha; Huhtaniemi, Ilpo; Raitakari, Olli T

    2011-12-01

    In aging men, serum endogenous testosterone is inversely associated with common carotid intima-media thickness (IMT) and directly with beneficial plasma lipid levels; however, the relationship to endothelial function is poorly characterized. We examined the association between serum testosterone and endothelium-dependent brachial artery flow-mediated dilatation (FMD) in middle-aged to elderly men. A group of 83 men aged 40?69 years (mean 55.9 ± 7.5 [SD]) with andropausal symptoms were studied. We measured their serum lipids, testosterone, luteinizing hormone, mean carotid IMT and brachial artery FMD by high resolution B-mode ultrasound. Brachial FMD correlated inversely with vessel diameter (r = -0.38, p = 0.0004), alcohol consumption (r = -0.22, p = 0.047) and serum testosterone (r = -0.27, p = 0.01), but not with luteinizing hormone. In multivariate analysis, FMD was explained by testosterone (β = -0.17, p = 0.0226), high density lipoprotein cholesterol (β = 4.17, p = 0.0312) and vessel diameter (β = -4.37, p < 0.0001) when adjusted for age, body mass index, triglycerides, blood pressure, carotid IMT, smoking, alcohol consumption, cardiovascular diseases and use of lipid lowering medication (HMG-CoA reductase inhibitors). In middle-aged to elderly men, there is an inverse correlation between serum testosterone and brachial FMD. These data suggest that testosterone may have an adverse effect on systemic endothelial function.

  19. Tracheomegaly Secondary to Tracheotomy Tube Cuff in Amyotrophic Lateral Sclerosis: A Case Report.

    PubMed

    Lee, Dong Hoon; Yoon, Tae Mi; Lee, Joon Kyoo; Lim, Sang Chul

    2015-10-01

    Tracheomegaly has not been reported in amyotrophic lateral sclerosis (ALS). Herein, the authors report a case of tracheomegaly secondary to tracheotomy tube cuff in a patient with ALS. To our knowledge, this is the first report of an ALS patient with tracheomegaly and of tracheomegaly being associated with tracheotomy tube cuff and home tracheotomy mechanical ventilator.The clinician should consider the possibility of tracheomegaly in the differential diagnosis, if a patient with ALS develops repeat air leakage around the tracheotomy tube or rupture of tracheotomy tube cuff. PMID:26496301

  20. Symptom Management and End-of-Life Care in Amyotrophic Lateral Sclerosis.

    PubMed

    Jackson, Carlayne E; McVey, April L; Rudnicki, Stacy; Dimachkie, Mazen M; Barohn, Richard J

    2015-11-01

    The number of available symptomatic treatments has markedly enhanced the care of patients with amyotrophic lateral sclerosis (ALS). Once thought to be untreatable, patients with ALS today clearly benefit from multidisciplinary care. The impact of such care on the disease course, including rate of progression and mortality, has surpassed the treatment effects commonly sought in clinical drug trials. Unfortunately, there are few randomized controlled trials of medications or interventions addressing symptom management. In this review, the authors provide the level of evidence, when available, for each intervention that is currently considered standard of care by consensus opinion.

  1. Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient

    PubMed Central

    Salvado, Maria; Vargas, Victor; Vidal, Marta; Simon-Talero, Macarena; Camacho, Jessica; Gamez, Josep

    2015-01-01

    We report a case of acute severe hepatitis resulting from masitinib in a young amyotrophic lateral sclerosis patient. Hepatotoxicity induced by masitinib, a tyrosine kinase inhibitor, is usually transient with mild elevation of transaminases, although acute hepatitis has been not reported to date. The hepatitis was resolved after masitinib was discontinued and a combination of prednisone and azathioprine was started. The transaminases returned to baseline normal values five months later. This is the first case in the hepatitis literature associated with masitinib. The autoimmune role of this drug-induced liver injury is discussed. Physicians should be aware of this potential complication. PMID:26420975

  2. The expanding syndrome of amyotrophic lateral sclerosis: a clinical and molecular odyssey

    PubMed Central

    Turner, Martin R; Swash, Michael

    2015-01-01

    Recent advances in understanding amyotrophic lateral sclerosis (ALS) have delivered new questions. Disappointingly, the initial enthusiasm for transgenic mouse models of the disease has not been followed by rapid advances in therapy or prevention. Monogenic models may have inadvertently masked the true complexity of the human disease. ALS has evolved into a multisystem disorder, involving a final common pathway accessible via multiple upstream aetiological tributaries. Nonetheless, there is a common clinical core to ALS, as clear today as it was to Charcot and others. We stress the continuing relevance of clinical observations amid the increasing molecular complexity of ALS. PMID:25644224

  3. Cronobacter sakazakii DNA Detection in Cerebrospinal Fluid of a Patient with Amyotrophic Lateral Sclerosis Mimic Syndrome.

    PubMed

    Piombo, Marianna; Chiarello, Daniela; Corbetto, Marzia; Di Pino, Giovanni; Dicuonzo, Giordano; Angeletti, Silvia; Riva, Elisabetta; De Florio, Lucia; Capone, Fioravante; Di Lazzaro, Vincenzo

    2015-01-01

    A 45-year-old male noticed progressive weakness of the right lower limb with gait disturbance. Over the following months, motor deficits worsened, spreading to the right upper limb. Electromyography showed active denervation in the upper and lower limb muscles. A diagnosis of amyotrophic lateral sclerosis (ALS) was made. About 2 years after symptom onset, gradual improvement occurred. Cerebrospinal fluid analysis performed about 3 years after the beginning of symptoms identified Cronobacter sakazakii. Since no other possible causes were identified, we suggest that an almost completely reversible ALS-like syndrome had been triggered by Cronobacter infection in our immunocompetent patient. PMID:26955334

  4. Intraneuronal aluminum accumulation in amyotrophic lateral sclerosis and Parkinsonism-dementia of Guam

    SciTech Connect

    Perl, D.P.; Gajdusek, D.C.; Garruto, R.M.; Yanagihara, R.T.; Gibbs, C.J.

    1982-09-10

    Scanning electron microscopy with energy-dispersive x-ray spectrometry was used to analyze the elemental content of neurofibrillary tangle (NFT)-bearing and NFT-free neurons within the Sommer's sector (H1 region) of the hippocampus in Guamanian Chamorros with amyotrophic lateral sclerosis and parkinsonism-dementia and in neurologically normal controls. Preliminary data indicate prominent accumulation of aluminum within the nuclear region and perikaryal cytoplasm of NFT-bearing hippocampal neurons, regardless of the underlying neurological diagnosis. These findings further extend the association between intraneuronal aluminum and NFT formation and support the hypothesis that environmental factors are related to the neurodegenerative changes seen in the Chamorro population.

  5. Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient.

    PubMed

    Salvado, Maria; Vargas, Victor; Vidal, Marta; Simon-Talero, Macarena; Camacho, Jessica; Gamez, Josep

    2015-09-28

    We report a case of acute severe hepatitis resulting from masitinib in a young amyotrophic lateral sclerosis patient. Hepatotoxicity induced by masitinib, a tyrosine kinase inhibitor, is usually transient with mild elevation of transaminases, although acute hepatitis has been not reported to date. The hepatitis was resolved after masitinib was discontinued and a combination of prednisone and azathioprine was started. The transaminases returned to baseline normal values five months later. This is the first case in the hepatitis literature associated with masitinib. The autoimmune role of this drug-induced liver injury is discussed. Physicians should be aware of this potential complication.

  6. Juvenile amyotrophic lateral sclerosis: Classical wine glass sign on magnetic resonance imaging

    PubMed Central

    Kumar, Saurabh; Aga, Pallavi; Gupta, Aakansha; Kohli, Neera

    2016-01-01

    Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, is a chronic degenerative neurologic disease and is characterized by the selective involvement of the motor system. Usually, patients present with upper motor neuron (UMN) and lower motor neuron compromise. Degeneration of the UMN in the cerebral cortex is one of the main pathologic changes in ALS. These changes usually affect corticospinal tracts leading to degeneration of the fibers which show characteristic hyperintensities along the tracts leading to the “wine glass sign.” Patients with ALS usually present in the sixth decade of life; presentation in pediatric age in the form of juvenile ALS being rare. PMID:27195035

  7. Amyotrophic lateral sclerosis: Current perspectives from basic research to the clinic.

    PubMed

    Mancuso, Renzo; Navarro, Xavier

    2015-10-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of upper and lower motoneurons, leading to muscle weakness and paralysis, and finally death. Considerable recent advances have been made in basic research and preclinical therapeutic attempts using experimental models, leading to increasing clinical and translational research in the context of this disease. In this review we aim to summarize the most relevant findings from a variety of aspects about ALS, including evaluation methods, animal models, pathophysiology, and clinical findings, with particular emphasis in understanding the role of every contributing mechanism to the disease for elucidating the causes underlying degeneration of motoneurons and the development of new therapeutic strategies.

  8. Evidence for a dopaminergic deficit in sporadic amyotrophic lateral sclerosis on positron emission scanning

    SciTech Connect

    Takahashi, Hirohide; Snow, B.J.; Bhatt, M.H.; Peppard, R.; Eisen, A.; Calne, D.B. )

    1993-10-23

    Although rare, the chronic neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and idiopathic parkinsonism coexist to a greater degree than expected by chance. This suggests that patients with ALS may have subclinical lesions of the nigrostriatal dopaminergic pathway. To study this hypothesis, the authors did positron emission tomography with 6-fluorodopa on 16 patients with sporadic ALS and without extrapyramidal disease, and compared the results with age-matched controls. They found a significant progressive fall in 6-fluorodopa uptake with time since diagnosis, and reduced dopaminergic function in 3 patients with ALS of long duration. This supports the hypothesis that ALS and IP may share pathogenesis, and, perhaps, etiology.

  9. Different associations between beta-blockers and other antihypertensive medication combinations with brachial blood pressure and aortic waveform parameters

    PubMed Central

    Sluyter, John D.; Hughes, Alun D.; Lowe, Andrew; Parker, Kim H.; Camargo, Carlos A.; Hametner, Bernhard; Wassertheurer, Siegfried; Scragg, Robert K.R.

    2016-01-01

    Background Comparing the relationships of antihypertensive medications with brachial blood pressure (BP) and aortic waveform parameters may help clinicians to predict the effect on the latter in brachial BP-based antihypertensive therapy. We aimed to make such comparisons with new waveform measures and a wider range of antihypertensive regimens than examined previously. Methods Cross-sectional analysis of 2933 adults (61% male; aged 50–84 years): 1637 on antihypertensive treatment and 1296 untreated hypertensives. Sixteen medicine regimens of up to 4 combinations of drugs from 6 antihypertensive classes were analysed. Aortic systolic BP, augmentation index (AIx), excess pressure integral (EPI), backward pressure amplitude (Pb), reflection index (RI) and pulse wave velocity (PWV) were calculated from aortic pressure waveforms derived from suprasystolic brachial measurement. Results Forest plots of single-drug class comparisons across regimens with the same number of drugs (for between 1- and 3-drug regimens) revealed that AIx, Pb, RI and/or loge(EPI) were higher (maximum difference = 5.6%, 2.2 mm Hg, 0.0192 and 0.13 loge(mm Hg · s), respectively) with the use of a beta-blocker compared with vasodilators and diuretics, despite no brachial systolic and diastolic BP differences. These differences were reduced (by 34–57%) or eliminated after adjustment for heart rate, and similar effects occurred when controlling for systolic ejection period or diastolic duration. Conclusions Beta-blocker effects on brachial BP may overestimate effects on aortic waveform parameters. Compared to other antihypertensives, beta-blockers have weaker associations with wave reflection measures and EPI; this is predominantly due to influences on heart rate. PMID:27340919

  10. Comparison of the Supraclavicular, Infraclavicular and Axillary Approaches for Ultrasound-Guided Brachial Plexus Block for Surgical Anesthesia

    PubMed Central

    Stav, Anatoli; Reytman, Leonid; Stav, Michael-Yohay; Portnoy, Isaak; Kantarovsky, Alexander; Galili, Offer; Luboshitz, Shmuel; Sevi, Roger; Sternberg, Ahud

    2016-01-01

    Objective We hypothesized that ultrasound (US)-guided technique of the supra- and infraclavicular and axillary approaches of brachial plexus block (BPB) will produce a high quality of surgical anesthesia for operations below the shoulder independently of the approach and body mass index (BMI). Intercostobrachial and medial brachial cutaneous nerves will be blocked separately because they are not a part of the brachial plexus. Methods This is a prospective randomized observer-blinded study. The three approaches of the US-guided BPB without neurostimulation were compared for quality, performance time, and correlation between performance time and BMI. Intercostobrachial and medial brachial cutaneous nerve blocks were used in all patients. Results A total of 101 patients were randomized into three groups: SCL (supraclavicular), ICL (infraclavicular), and AX (axillary). Seven patients were excluded due to various factors. All three groups were similar in demographic data, M:F proportion, preoperative diagnosis and type of surgery, anesthesiologists who performed the block, and surgical staff that performed the surgical intervention. The time between the end of the block performance and the start of the operation was also similar. The quality of the surgical anesthesia and discomfort during the operation were identical following comparison between groups. No direct positive correlation was observed between BMI and the block performance time. The time for the axillary block was slightly longer than the time for the supra- and infraclavicular approaches, but it had no practical clinical significance. Transient Horner syndrome was observed in three patients in the SCL group. No other adverse effects or complications were observed. Conclusions All three approaches can be used for US-guided BPB with similar quality of surgical anesthesia for operations of below the shoulder. A block of the intercostobrachial and medial brachial cutaneous nerves is recommended. Obesity is not

  11. Brachial Plexus-Associated Neuropathy After High-Dose Radiation Therapy for Head-and-Neck Cancer

    SciTech Connect

    Chen, Allen M.; Hall, William H.; Li, Judy; Beckett, Laurel; Farwell, D. Gregory; Lau, Derick H.; Purdy, James A.

    2012-09-01

    Purpose: To identify clinical and treatment-related predictors of brachial plexus-associated neuropathies after radiation therapy for head-and-neck cancer. Methods and Materials: Three hundred thirty patients who had previously completed radiation therapy for head-and-neck cancer were prospectively screened using a standardized instrument for symptoms of neuropathy thought to be related to brachial plexus injury. All patients were disease-free at the time of screening. The median time from completion of radiation therapy was 56 months (range, 6-135 months). One-hundred fifty-five patients (47%) were treated by definitive radiation therapy, and 175 (53%) were treated postoperatively. Radiation doses ranged from 50 to 74 Gy (median, 66 Gy). Intensity-modulated radiation therapy was used in 62% of cases, and 133 patients (40%) received concurrent chemotherapy. Results: Forty patients (12%) reported neuropathic symptoms, with the most common being ipsilateral pain (50%), numbness/tingling (40%), motor weakness, and/or muscle atrophy (25%). When patients with <5 years of follow-up were excluded, the rate of positive symptoms increased to 22%. On univariate analysis, the following factors were significantly associated with brachial plexus symptoms: prior neck dissection (p = 0.01), concurrent chemotherapy (p = 0.01), and radiation maximum dose (p < 0.001). Cox regression analysis confirmed that both neck dissection (p < 0.001) and radiation maximum dose (p < 0.001) were independently predictive of symptoms. Conclusion: The incidence of brachial plexus-associated neuropathies after radiation therapy for head-and-neck cancer may be underreported. In view of the dose-response relationship identified, limiting radiation dose to the brachial plexus should be considered when possible.

  12. Promoting proximal formative assessment with relational discourse

    NASA Astrophysics Data System (ADS)

    Scherr, Rachel E.; Close, Hunter G.; McKagan, Sarah B.

    2012-02-01

    The practice of proximal formative assessment - the continual, responsive attention to students' developing understanding as it is expressed in real time - depends on students' sharing their ideas with instructors and on teachers' attending to them. Rogerian psychology presents an account of the conditions under which proximal formative assessment may be promoted or inhibited: (1) Normal classroom conditions, characterized by evaluation and attention to learning targets, may present threats to students' sense of their own competence and value, causing them to conceal their ideas and reducing the potential for proximal formative assessment. (2) In contrast, discourse patterns characterized by positive anticipation and attention to learner ideas increase the potential for proximal formative assessment and promote self-directed learning. We present an analysis methodology based on these principles and demonstrate its utility for understanding episodes of university physics instruction.

  13. Dexmedetomidine as an adjuvant to levobupivacaine in supraclavicular brachial plexus block: A novel anesthetic approach

    PubMed Central

    Singh, Arvinder Pal; Mahindra, Malika; Gupta, Ruchi; Bajwa, Sukhminder Jit Singh

    2016-01-01

    Aims and Objectives: Supplementation of dexmedetomidine produces a dose-dependent sedation, anxiolysis and analgesia without respiratory depression. This study was conducted to evaluate the possible effect of dexmedetomidine as an adjuvant to levobupivacaine for supraclavicular brachial plexus block in upper limb surgery. Settings and Design: Tertiary care institute, Department of Anaesthesiology and Intensive Care, a placebo-controlled study. Materials and Methods: After obtaining Ethical Committee approval, a randomized, double-blind, placebo-controlled study was conducted on sixty American Society of Anesthesiologists physical status I and II patients in the age group of 18–60 years, divided randomly into two groups, Group I received 30 ml of 0.5% levobupivacaine with 1 ml of isotonic sodium chloride solution and Group II received 30 ml of 0.5% levobupivacaine and 1 ml (100 mcg) of dexmedetomidine for supraclavicular brachial plexus block. The onset and duration of sensory and motor blockade, duration of analgesia (DOA) and any adverse effects were noted. At the end of the study, data were compiled and analyzed using appropriate statistical tests. The value of P < 0.05 was considered significant. Results: Demographic profile was comparable in both the groups. The time to onset of sensory and motor block was 10.54 ± 2.333 min and 12.21 ± 2.529 min in Group I while it was 3.24 ± 0.951 min and 2.83 ± 1.197 min in Group II, respectively. The duration of sensory and motor block was 7.79 ± 2.007 h and 9.18 ± 1.701 h in Group I, and it was 16.31 ± 2.606 h and 17.52 ± 2.098 h in Group II, respectively. The DOA was 678.68 ± 20.492 min in Group I and 1273.79 ± 83.139 min in Group II. On statistical comparison, these values were highly significant (P < 0.001). Side effects such as nausea, vomiting, hypoxemia, pruritis, or urinary retention were not observed in either of the groups. Conclusion: Dexmedetomidine shortens the onset time for sensory and motor block

  14. Outcome following spinal accessory to suprascapular (spinoscapular) nerve transfer in infants with brachial plexus birth injuries.

    PubMed

    Ruchelsman, David E; Ramos, Lorna E; Alfonso, Israel; Price, Andrew E; Grossman, Agatha; Grossman, John A I

    2010-06-01

    The purpose of this study is to evaluate the value of distal spinal accessory nerve (SAN) transfer to the suprascapular nerve (SSN) in children with brachial plexus birth injuries in order to better define the application and outcome of this transfer in these infants. Over a 3-year period, 34 infants with brachial plexus injuries underwent transfer of the SAN to the SSN as part of the primary surgical reconstruction. Twenty-five patients (direct repair, n = 20; interposition graft, n = 5) achieved a minimum follow-up of 24 months. Fourteen children underwent plexus reconstruction with SAN-to-SSN transfer at less than 9 months of age, and 11 underwent surgical reconstruction at the age of 9 months or older. Mean age at the time of nerve transfer was 11.6 months (range, 5-30 months). At latest follow-up, active shoulder external rotation was measured in the arm abducted position and confirmed by review of videos. The Gilbert and Miami shoulder classification scores were utilized to report shoulder-specific functional outcomes. The effects of patient age at the time of nerve transfer and the use of interpositional nerve graft were analyzed. Overall mean active external rotation measured 69.6°; mean Gilbert score was 4.1 and the mean Miami score was 7.1, corresponding to overall good shoulder functional outcomes. Similar clinical and shoulder-specific functional outcomes were obtained in patients undergoing early (<9 months of age, n = 14) and late (>9 months of age, n = 11) SAN-to-SSN transfer and primary plexus reconstruction. Nine patients (27%) were lost to follow-up and are not included in the analysis. Optimum results were achieved following direct transfer (n = 20). Results following the use of an interpositional graft (n = 5) were rated satisfactory. No patient required a secondary shoulder procedure during the study period. There were no postoperative complications. Distal SAN-to-SSN (spinoscapular) nerve transfer is a reliable

  15. Fast optical proximity correction: analytical method

    NASA Astrophysics Data System (ADS)

    Shioiri, Satomi; Tanabe, Hiroyoshi

    1995-05-01

    In automating optical proximity correction, calculation speed becomes important. In this paper we present a novel method for calculating proximity corrected features analytically. The calculation will take only several times the amount it takes to calculate intensity of one point on wafer. Therefore, the calculation will become extremely faster than conventional repetitive aerial image calculations. This method is applied to a simple periodic pattern. The simulated results show great improvement on linearity after correction and have proved the effectiveness of this analytical method.

  16. [Proximity, intimacy and promiscuity in care].

    PubMed

    Flicourt, Nadia

    2015-04-01

    Lying at the heart of the intimacy of the other person, the nature of care supposes that the caregiver identifies the components resulting from the proximity and the invasion of the patient's personal space, where perceptions and representations give rise to reactive emotions and behaviour. Between modesty and nudity, proximity and promiscuity, caregivers have to adjust their approach of proper care, limiting the risks of intrusion. PMID:26043630

  17. Proximity sensor system development. CRADA final report

    SciTech Connect

    Haley, D.C.; Pigoski, T.M.

    1998-01-01

    Lockheed Martin Energy Research Corporation (LMERC) and Merritt Systems, Inc. (MSI) entered into a Cooperative Research and Development Agreement (CRADA) for the development and demonstration of a compact, modular proximity sensing system suitable for application to a wide class of manipulator systems operated in support of environmental restoration and waste management activities. In teleoperated modes, proximity sensing provides the manipulator operator continuous information regarding the proximity of the manipulator to objects in the workspace. In teleoperated and robotic modes, proximity sensing provides added safety through the implementation of active whole arm collision avoidance capabilities. Oak Ridge National Laboratory (ORNL), managed by LMERC for the United States Department of Energy (DOE), has developed an application specific integrated circuit (ASIC) design for the electronics required to support a modular whole arm proximity sensing system based on the use of capacitive sensors developed at Sandia National Laboratories. The use of ASIC technology greatly reduces the size of the electronics required to support the selected sensor types allowing deployment of many small sensor nodes over a large area of the manipulator surface to provide maximum sensor coverage. The ASIC design also provides a communication interface to support sensor commands from and sensor data transmission to a distributed processing system which allows modular implementation and operation of the sensor system. MSI is a commercial small business specializing in proximity sensing systems based upon infrared and acoustic sensors.

  18. Locking plates in proximal humerus fractures.

    PubMed

    Strohm, P C; Helwig, P; Konrad, G; Südkamp, N P

    2007-12-01

    It is well known that proximal humerus fractures are among the three most frequent fracture types. Epidemiological invetsigations show that in people elder than 60 years the fracture of the proximal humerus is more frequent than fractures of the hip region (17). Over the last decades several techniques have been applied for treatment of proximal humerus fractures. Widely accepted is the initiation of a conservative treatment regimen for undisplaced fractures, however, the standard treatment for displaced fractures, especially three and four part fractures, is still the center of scientific debate. Many different implants have been tested and investigated, thus demonstrating lack of sufficient results. Over the last years the development of angle stable, locking implants started and clinical studies demonstrated encouraging results. In our clinic the locking proximal humerus plate and the PHILOS plate advanced to the implant of choice for treatment of displaced proximal humerus fractures. There are still cases of implant failure and humerus head necrosis, but most of these complications were caused by the fracture type and not an implant specific problem. However the overall results with these new implants are encouraging. Key words: locking plates, proximal humerus fracture, humerus, humerus fracture, PHILOS, PHP.

  19. Brachial plexopathy

    MedlinePlus

    ... include: Numbness of the shoulder, arm, or hand Shoulder pain Tingling, burning, pain, or abnormal sensations (location depends ... Call your health care provider if you experience pain, numbness, tingling, or weakness in the shoulder, arm, or hand.

  20. Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

    PubMed

    Denora, Paola S; Smets, Katrien; Zolfanelli, Federica; Ceuterick-de Groote, Chantal; Casali, Carlo; Deconinck, Tine; Sieben, Anne; Gonzales, Michael; Zuchner, Stephan; Darios, Frédéric; Peeters, Dirk; Brice, Alexis; Malandrini, Alessandro; De Jonghe, Peter; Santorelli, Filippo M; Stevanin, Giovanni; Martin, Jean-Jacques; El Hachimi, Khalid H

    2016-06-01

    The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mechanism of the encoded protein, spatacsin. The SPG11 phenotype is, in most cases, characterized by a progressive spasticity with neuropathy, cognitive impairment and a thin corpus callosum on brain MRI. Full neuropathological characterization has not been reported to date despite the description of >100 SPG11 mutations. We describe here the clinical and pathological features observed in two unrelated females, members of genetically ascertained SPG11 families originating from Belgium and Italy, respectively. We confirm the presence of lesions of motor tracts in medulla oblongata and spinal cord associated with other lesions of the central nervous system. Interestingly, we report for the first time pathological hallmarks of SPG11 in neurons that include intracytoplasmic granular lysosome-like structures mainly in supratentorial areas, and others in subtentorial areas that are partially reminiscent of those observed in amyotrophic lateral sclerosis, such as ubiquitin and p62 aggregates, except that they are never labelled with anti-TDP-43 or anti-cystatin C. The neuropathological overlap with amyotrophic lateral sclerosis, associated with some shared clinical manifestations, opens up new fields of investigation in the physiopathological continuum of motor neuron degeneration. PMID:27016404

  1. The Cyanobacteria Derived Toxin Beta-N-Methylamino-L-Alanine and Amyotrophic Lateral Sclerosis

    PubMed Central

    Banack, Sandra Anne; Caller, Tracie A.; Stommel, Elijah W.

    2010-01-01

    There is mounting evidence to suggest that environmental factors play a major role in the development of neurodegenerative diseases like ALS (Amyotrophic Lateral Sclerosis). The non-protein amino acid beta-N-methylamino-L-alanine (BMAA) was first associated with the high incidence of Amyotrophic Lateral Sclerosis/Parkinsonism Dementia Complex (ALS/PDC) in Guam, and has been implicated as a potential environmental factor in ALS, Alzheimer’s disease, and other neurodegenerative diseases. BMAA has a number of toxic effects on motor neurons including direct agonist action on NMDA and AMPA receptors, induction of oxidative stress, and depletion of glutathione. As a non-protein amino acid, there is also the strong possibility that BMAA could cause intraneuronal protein misfolding, the hallmark of neurodegeneration. While an animal model for BMAA-induced ALS is lacking, there is substantial evidence to support a link between this toxin and ALS. The ramifications of discovering an environmental trigger for ALS are enormous. In this article, we discuss the history, ecology, pharmacology and clinical ramifications of this ubiquitous, cyanobacteria-derived toxin. PMID:22069578

  2. A unifying hypothesis for the cause of amyotrophic lateral sclerosis, parkinsonism, and Alzheimer disease.

    PubMed

    Appel, S H

    1981-12-01

    The causes of amyotrophic lateral sclerosis, Parkinson disease, and Alzheimer disease are unknown. Furthermore, treatment for two of these conditions is almost totally lacking. The thesis is presented that each of these disorders is due to lack of a disorder-specific neurotrophic hormone. The hormone would be elaborated or stored in the target of the affected neurons. It would be released by the postsynaptic cell and then exert its effects in a retrograde fashion after being taken up by the presynaptic terminal. In the lower motor neuron syndromes of amyotrophic lateral sclerosis, failure of muscle cells to release the appropriate motor neurotrophic hormone would result in impaired function of anterior horn cells. In Parkinson disease, the neurotrophic failure would be characterized by inability of striatal cells to provide the required dopamine neurotrophic hormone with resulting impairment of substantia nigra cells. In Alzheimer disease, the abnormalities would lie in failure of the hippocampus and cortical cells to supply the relevant cholinergic neurotrophic hormone with resulting impairment of medial septal and nucleus basalis neurons. Central nervous system tissue culture provides a convenient system in which to assay these neurotrophic hormones and should permit a test of the hypothesis.

  3. Spatial Elucidation of Spinal Cord Lipid- and Metabolite- Regulations in Amyotrophic Lateral Sclerosis

    NASA Astrophysics Data System (ADS)

    Hanrieder, Jörg; Ewing, Andrew G.

    2014-06-01

    Amyotrophic lateral sclerosis (ALS) is a devastating, rapidly progressing disease of the central nervous system that is characterized by motor neuron degeneration in the brain stem and the spinal cord. We employed time of flight secondary ion mass spectrometry (ToF-SIMS) to profile spatial lipid- and metabolite- regulations in post mortem human spinal cord tissue from ALS patients to investigate chemical markers of ALS pathogenesis. ToF-SIMS scans and multivariate analysis of image and spectral data were performed on thoracic human spinal cord sections. Multivariate statistics of the image data allowed delineation of anatomical regions of interest based on their chemical identity. Spectral data extracted from these regions were compared using two different approaches for multivariate statistics, for investigating ALS related lipid and metabolite changes. The results show a significant decrease for cholesterol, triglycerides, and vitamin E in the ventral horn of ALS samples, which is presumably a consequence of motor neuron degeneration. Conversely, the biogenic mediator lipid lysophosphatidylcholine and its fragments were increased in ALS ventral spinal cord, pointing towards neuroinflammatory mechanisms associated with neuronal cell death. ToF-SIMS imaging is a promising approach for chemical histology and pathology for investigating the subcellular mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis.

  4. Military Service, Deployments, and Exposures in Relation to Amyotrophic Lateral Sclerosis Etiology and Survival

    PubMed Central

    Beard, John D.; Kamel, Freya

    2015-01-01

    Rates of amyotrophic lateral sclerosis (ALS) have been reported to be higher among US military veterans, who currently number more than 21 million, but the causal factor(s) has not been identified. We conducted a review to examine the weight of evidence for associations between military service, deployments, and exposures and ALS etiology and survival. Thirty articles or abstracts published through 2013 were reviewed. Although the current evidence suggests a positive association with ALS etiology, it is too limited to draw firm conclusions regarding associations between military service and ALS etiology or survival. Some evidence suggests that deployment to the 1990–1991 Persian Gulf War may be associated with ALS etiology, but there is currently no strong evidence that any particular military exposure is associated with ALS etiology. Future studies should address the limitations of previous ones, such as reliance on mortality as a surrogate for incidence, a dearth of survival analyses, lack of clinical data, low statistical power, and limited exposure assessment. The Genes and Environmental Exposures in Veterans with Amyotrophic Lateral Sclerosis (GENEVA) Study is one such study, but additional research is needed to determine whether military-related factors are associated with ALS and to assess potential prevention strategies. PMID:25365170

  5. Conformational Disorder of the Most Immature Cu, Zn-Superoxide Dismutase Leading to Amyotrophic Lateral Sclerosis.

    PubMed

    Furukawa, Yoshiaki; Anzai, Itsuki; Akiyama, Shuji; Imai, Mizue; Cruz, Fatima Joy C; Saio, Tomohide; Nagasawa, Kenichi; Nomura, Takao; Ishimori, Koichiro

    2016-02-19

    Misfolding of Cu,Zn-superoxide dismutase (SOD1) is a pathological change in the familial form of amyotrophic lateral sclerosis caused by mutations in the SOD1 gene. SOD1 is an enzyme that matures through the binding of copper and zinc ions and the formation of an intramolecular disulfide bond. Pathogenic mutations are proposed to retard the post-translational maturation, decrease the structural stability, and hence trigger the misfolding of SOD1 proteins. Despite this, a misfolded and potentially pathogenic conformation of immature SOD1 remains obscure. Here, we show significant and distinct conformational changes of apoSOD1 that occur only upon reduction of the intramolecular disulfide bond in solution. In particular, loop regions in SOD1 lose their restraint and become significantly disordered upon dissociation of metal ions and reduction of the disulfide bond. Such drastic changes in the solution structure of SOD1 may trigger misfolding and fibrillar aggregation observed as pathological changes in the familial form of amyotrophic lateral sclerosis.

  6. Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice.

    PubMed

    Shiihashi, Gen; Ito, Daisuke; Yagi, Takuya; Nihei, Yoshihiro; Ebine, Taeko; Suzuki, Norihiro

    2016-09-01

    Mutations in RNA-binding proteins, including fused in sarcoma (FUS) and TAR DNA-binding protein 43 (TDP-43, encoded by TARDBP), are associated with sporadic and familial amyotrophic lateral sclerosis. A major question is whether neuronal loss is caused by toxic gain-of-function cytoplasmic aggregates or loss of nuclear RNA-binding protein function. We generated a transgenic mouse overexpressing exogenous FUS without a nuclear localization signal (ΔNLS-FUS), which developed progressive spastic motor deficits and neuronal loss in the motor cortex. The ΔNLS-FUS protein was restricted to the cytoplasm and formed ubiquitin/p62-positive aggregates. Endogenous FUS expression, nuclear localization, and splicing activity were not altered, indicating that mislocated FUS is sufficient for proteinopathy. Crossing ΔNLS-FUS with wild-type human TDP-43 transgenic mice exacerbated pathological and behavioural phenotypes, suggesting that both proteins are involved in a common cascade. RNA-sequence analysis revealed specific transcriptome alterations, including genes regulating dynein-associated molecules and endoplasmic reticulum stress. ΔNLS-FUS mice are promising tools for understanding amyotrophic lateral sclerosis pathogenesis and testing new therapeutic approaches.

  7. A Bibliometric Assessment of Global Ice Bucket Challenge (Amyotrophic Lateral Sclerosis) Research

    PubMed Central

    Ram, Shri

    2016-01-01

    Background This study is a quantitative and qualitative assessment of the global research trends on amyotrophic lateral sclerosis (ALS) (popularly known as Ice Bucket Challenge), through related literatures retrieved from SCOPUS multidisciplinary database for the period 1974-2013. Purpose This study is aimed at analyzing the literature on ALS in terms of document type, language, annual growth, productive country, journal, authors, subject, and most cited articles. Methods The bibliographic data for this study was retrieved from the SCOPUS database using keywords ‘amyotrophic lateral sclerosis’, ‘motor neurone disease’, ‘Charcot disease’, ‘Lou Gehrig's disease’, ‘Ice Bucket Challenge’ available in title, abstract, and keyword fields of Scopus database from 1974 to 2013. Results The literature analysis included 21,750 articles during the period from 1974 to 2013 in different areas of ALS. USA was the most productive country in terms of literature produced, while Neurology was the most productive journal. Conclusion An intensive awareness created by ‘Ice Bucket Challenge’ has attracted masses, and an intensive growth of literature is pertinent on ALS. The results of this study are expressed in terms of growth of literature, output of individual countries, and authors, and will be helpful in collaborative research in future. PMID:27780988

  8. Military service, deployments, and exposures in relation to amyotrophic lateral sclerosis etiology and survival.

    PubMed

    Beard, John D; Kamel, Freya

    2015-01-01

    Rates of amyotrophic lateral sclerosis (ALS) have been reported to be higher among US military veterans, who currently number more than 21 million, but the causal factor(s) has not been identified. We conducted a review to examine the weight of evidence for associations between military service, deployments, and exposures and ALS etiology and survival. Thirty articles or abstracts published through 2013 were reviewed. Although the current evidence suggests a positive association with ALS etiology, it is too limited to draw firm conclusions regarding associations between military service and ALS etiology or survival. Some evidence suggests that deployment to the 1990-1991 Persian Gulf War may be associated with ALS etiology, but there is currently no strong evidence that any particular military exposure is associated with ALS etiology. Future studies should address the limitations of previous ones, such as reliance on mortality as a surrogate for incidence, a dearth of survival analyses, lack of clinical data, low statistical power, and limited exposure assessment. The Genes and Environmental Exposures in Veterans with Amyotrophic Lateral Sclerosis (GENEVA) Study is one such study, but additional research is needed to determine whether military-related factors are associated with ALS and to assess potential prevention strategies.

  9. Structures of the G85R Variant of SOD1 in Familial Amyotrophic Lateral Sclerosis

    SciTech Connect

    Cao, Xiaohang; Antonyuk, Svetlana V.; Seetharaman, Sai V.; Whitson, Lisa J.; Taylor, Alexander B.; Holloway, Stephen P.; Strange, Richard W.; Doucette, Peter A.; Valentine, Joan Selverstone; Tiwari, Ashutosh; Hayward, Lawrence J.; Padua, Shelby; Cohlberg, Jeffrey A.; Hasnain, S. Samar; Hart, P. John

    2008-07-21

    Mutations in the gene encoding human copper-zinc superoxide dismutase (SOD1) cause a dominant form of the progressive neurodegenerative disease amyotrophic lateral sclerosis. Transgenic mice expressing the human G85R SOD1 variant develop paralytic symptoms concomitant with the appearance of SOD1-enriched proteinaceous inclusions in their neural tissues. The process(es) through which misfolding or aggregation of G85R SOD1 induces motor neuron toxicity is not understood. Here we present structures of the human G85R SOD1 variant determined by single crystal x-ray diffraction. Alterations in structure of the metal-binding loop elements relative to the wild type enzyme suggest a molecular basis for the metal ion deficiency of the G85R SOD1 protein observed in the central nervous system of transgenic mice and in purified recombinant G85R SOD1. These findings support the notion that metal-deficient and/or disulfide-reduced mutant SOD1 species contribute to toxicity in SOD1-linked amyotrophic lateral sclerosis.

  10. Mutant SOD1 inhibits ER-Golgi transport in amyotrophic lateral sclerosis.

    PubMed

    Atkin, Julie D; Farg, Manal A; Soo, Kai Ying; Walker, Adam K; Halloran, Mark; Turner, Bradley J; Nagley, Phillip; Horne, Malcolm K

    2014-04-01

    Cu/Zn-superoxide dismutase is misfolded in familial and sporadic amyotrophic lateral sclerosis, but it is not clear how this triggers endoplasmic reticulum (ER) stress or other pathogenic processes. Here, we demonstrate that mutant SOD1 (mSOD1) is predominantly found in the cytoplasm in neuronal cells. Furthermore, we show that mSOD1 inhibits secretory protein transport from the ER to Golgi apparatus. ER-Golgi transport is linked to ER stress, Golgi fragmentation and axonal transport and we also show that inhibition of ER-Golgi trafficking preceded ER stress, Golgi fragmentation, protein aggregation and apoptosis in cells expressing mSOD1. Restoration of ER-Golgi transport by over-expression of coatomer coat protein II subunit Sar1 protected against inclusion formation and apoptosis, thus linking dysfunction in ER-Golgi transport to cellular pathology. These findings thus link several cellular events in amyotrophic lateral sclerosis into a single mechanism occurring early in mSOD1 expressing cells.

  11. [Brachial plexus compression from supraclavicular encapsulated fat necrosis. A case report].

    PubMed

    Domínguez-Páez, Miguel; de Miguel-Pueyo, Luis; Marín-Salido, Esteban José; Carrasco-Brenes, Antonio; Martín-Gallego, Alvaro; Arráez-Sánchez, Miguel Ángel

    2014-01-01

    We report the case of a 44-year-old male, lacking clinical history of previous illness, who had surgery at our hospital to treat a mass in the supraclavicular space. The patient presented with a 1-month progressive distal paresis of the left arm. The histo-pathological examination of the mass revealed an encapsulated fat necrosis. Fat necrosis is characterised by cystic architecture, encapsulation with fat necrosis within, and inflammatory infiltration of its walls. Neural structure compression secondary to this tumour mass is very rare. Fat necrosis is more frequent in the lower limbs, in areas exposed to trauma. This article is the first report of brachial plexus compression due to supraclavicular fat necrosis. PMID:24837841

  12. Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases.

    PubMed

    Rodríguez-Hornillo, M; de la Riva, M C; Ojeda, R

    2016-01-01

    Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed. PMID:26948383

  13. Axillary artery pseudoaneurysm resulting in brachial plexus injury in a patient taking new oral anticoagulants.

    PubMed

    Monem, Mohammed; Iskandarani, Mohamad Khalid; Gokaraju, Kishan

    2016-01-01

    We discuss the case of an independent 80-year-old Caucasian woman, being treated with new oral anticoagulants for a previous deep vein thrombosis, who had fallen on her right shoulder. She made a delayed presentation to the emergency department with a wrist drop in her right dominant hand. She had right arm bruising with good distal pulses but had a global neurological deficit in the hand. Plain radiographs of the shoulder, humerus, elbow, forearm and wrist demonstrated no fractures. MRI showed a significant right axillary lesion distorting the surrounding soft tissues, including the brachial plexus, and CT with contrast confirmed this to be a large axillary pseudoaneurysm. This was treated with an endovascular stent resulting in slightly improved motor function, but the significant residual deficit required subsequent rehabilitation to improve right upper limb function. PMID:27535738

  14. Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases.

    PubMed

    Rodríguez-Hornillo, M; de la Riva, M C; Ojeda, R

    2016-01-01

    Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed.

  15. [Ankle-brachial pressure index as a predictor of future cardiovascular outcomes].

    PubMed

    Topalusić, Iva; Valpotić, Ina; Marković, Asja Stipić

    2012-10-01

    Peripheral arterial occlusive disease is very common in the general population and it is mostly of atherosclerotic origin. About 50%-75% of patients are asymptomatic. Many studies have shown the ankle-brachial pressure index (ABPI) to be a simple and reliable test with high sensitivity (90%) and specificity (98%) in the diagnosis of hemodynamically relevant stenosis of an arterial segment and also in detection of asymptomatic patients. The values of ABPI < 0.90 suggest widespread atherosclerosis, while the ABPI > 1.40 is associated with arterial calcification and wall stiffening. This test is highly specific (92.7%) in predicting future cardiovascular and cerebrovascular risk and could provide a tool for more focused prevention strategies. PMID:23814974

  16. A correlation study between ankle brachial pressure index and the severity of coronary artery disease.

    PubMed

    Benyakorn, Thoetphum; Kuanprasert, Sarun; Rerkasem, Kittipan

    2012-06-01

    Previous studies have shown that there was a correlation between low ankle brachial pressure index (ABPI) and the presence of the coronary artery disease (CAD). However, few studies have investigated the correlation between ABPI and the severity of CAD by using a scoring system. The authors aimed to investigate this correlation by using ABPI and CAD diagnosed by coronary angiography (CAG). A total of 213 consecutive patients awaiting CAG in Maharaj Nakorn Chiang Mai Hospital from July 2009 to November 2009 were enrolled in this study. The ABPI was measured before CAG. The severity of CAD was graded on CAG by using SYNTAX scores. The authors found a significantly negative correlation between ABPI and SYNTAX scores (correlation coefficient = -.172, P = .01). The authors concluded that ABPI appeared to correlate negatively with the severity of CAD in the Thai population. PMID:22561522

  17. The prognostic value of concurrent Horner syndrome in extended Erb obstetric brachial plexus palsy.

    PubMed

    El-Sayed, Amel A F

    2014-10-01

    Horner syndrome may be seen in infants with extended Erb obstetric brachial plexus palsy. However, its prognostic value in these infants has not been previously investigated. A total of 220 infants with extended Erb palsy were included and divided into 2 groups: group I (n = 209) were infants with extended Erb palsy without Horner syndrome, and group II (n = 11) were infants with extended Erb palsy and concurrent Horner syndrome. The rate of good spontaneous recovery of elbow flexion was 59% in group I and 27% in group II, and the difference was significant (P = .038). The rate of good spontaneous recovery of wrist extension was 61% in group I and 0% in group II, and the difference as highly significant (P < .0001). Concurrent Horner syndrome in infants with extended Erb palsy may be considered as a poor prognostic sign for recovery of the sixth and seventh cervical roots.

  18. Maturation of rat proximal tubule chloride permeability.

    PubMed

    Baum, Michel; Quigley, Raymond

    2005-12-01

    We have previously shown that neonate rabbit tubules have a lower chloride permeability but comparable mannitol permeability compared with adult proximal tubules. The surprising finding of lower chloride permeability in neonate proximals compared with adults impacts net chloride transport in this segment, which reabsorbs 60% of the filtered chloride in adults. However, this maturational difference in chloride permeability may not be applicable to other species. The present in vitro microperfusion study directly examined the chloride and mannitol permeability using in vitro perfused rat proximal tubules during postnatal maturation. Whereas there was no maturational change in mannitol permeability, chloride permeability was 6.3 +/- 1.3 x 10(-5) cm/s in neonate rat proximal convoluted tubule and 16.1 +/- 2.3 x 10(-5) cm/s in adult rat proximal convoluted tubule (P < 0.01). There was also a maturational increase in chloride permeability in the rat proximal straight tubule (5.1 +/- 0.6 x 10(-5) cm/s vs. 9.3 +/- 0.6 x 10(-5) cm/s, P < 0.01). There was no maturational change in bicarbonate-to-chloride permeabilities (P(HCO3)/P(Cl)) in the rat proximal straight tubules (PST) and proximal convoluted tubules (PCT) or in the sodium-to-chloride permeability (P(Na)/P(Cl)) in the proximal straight tubule; however, there was a significant maturational decrease in proximal convoluted tubule P(Na)/P(Cl) with postnatal development (1.31 +/- 0.12 in neonates vs. 0.75 +/- 0.06 in adults, P < 0.001). There was no difference in the transepithelial resistance measured by current injection and cable analysis in the PCT, but there was a maturational decrease in the PST (7.2 +/- 0.8 vs. 4.6 +/- 0.1 ohms x cm2, P < 0.05). These studies demonstrate there are maturational changes in the rat paracellular pathway that impact net NaCl transport during development. PMID:16051720

  19. Morphological Assessment of Cadaveric Radial, Brachial and Subclavian Arteries: A Neurointerventional Approach

    PubMed Central

    Yilmaz, Ali; Ozkul, Ayca; Shin, Dong Seong; Im, Soo-Bin; Yoon, Seok-Mann

    2015-01-01

    Objective The transradial catheterization (TRC) is becoming widespread, primarily for neurointerventions. Therefore, the evaluation of radial artery puncture in clinical practice and a better understanding of the anatomy are important to improve the safety of neuroendovascular surgery. Methods Ten formalin-fixed adult Korean cadavers were dissected to expose radial artery (RA), brachial artery (BrA) and subclvian artery (ScA), bilaterally. Vessel lengths and diameters were meaured using a caliper and distance between the specific point of vessels and the anatomical landmarks including the radial styloid process, the medial epicondyle of the humerus, the sternoclavicular joint, and the vertebral artery orifice were also measured. Results The average length between the radial (RAPS) and the BrA puncture sites (BrAPS) and between the vertebral artery orifice (VAO) and the BrA bifurcation (BrAB) did not differ between sides (p>0.05). The average length between the radial styloid process (RSP) and the RAPS was 13.41±2.19 mm, and the RSP was 26.85±2.47 mm from the median nerve (MN). The mean length between the medial epicondyle (ME) and the BrAPS as 44.23±5.47 mm, whereas the distance between the ME and the MN was 42.23±4.77 mm. The average VAO-ScA angle was 70.94±6.12°, and the length between the ScA junction (SCJ) and the VAO was 60.30±8.48 mm. Conclusion This study provides basic anatomical information about the radial artery and the brachial route and can help improving new techniques, selection of size and shape of catheters for TRC. This can help neurointerventionists who adopt a transradial neuroendovascular approach and offers comprehensive and safe care to their patients. PMID:26819682

  20. Brachial artery vasomotion and transducer pressure effect on measurements by active contour segmentation on ultrasound

    SciTech Connect

    Cary, Theodore W.; Sultan, Laith R.; Sehgal, Chandra M.; Reamer, Courtney B.; Mohler, Emile R.

    2014-02-15

    Purpose: To use feed-forward active contours (snakes) to track and measure brachial artery vasomotion on ultrasound images recorded in both transverse and longitudinal views; and to compare the algorithm's performance in each view. Methods: Longitudinal and transverse view ultrasound image sequences of 45 brachial arteries were segmented by feed-forward active contour (FFAC). The segmented regions were used to measure vasomotion artery diameter, cross-sectional area, and distention both as peak-to-peak diameter and as area. ECG waveforms were also simultaneously extracted frame-by-frame by thresholding a running finite-difference image between consecutive images. The arterial and ECG waveforms were compared as they traced each phase of the cardiac cycle. Results: FFAC successfully segmented arteries in longitudinal and transverse views in all 45 cases. The automated analysis took significantly less time than manual tracing, but produced superior, well-behaved arterial waveforms. Automated arterial measurements also had lower interobserver variability as measured by correlation, difference in mean values, and coefficient of variation. Although FFAC successfully segmented both the longitudinal and transverse images, transverse measurements were less variable. The cross-sectional area computed from the longitudinal images was 27% lower than the area measured from transverse images, possibly due to the compression of the artery along the image depth by transducer pressure. Conclusions: FFAC is a robust and sensitive vasomotion segmentation algorithm in both transverse and longitudinal views. Transverse imaging may offer advantages over longitudinal imaging: transverse measurements are more consistent, possibly because the method is less sensitive to variations in transducer pressure during imaging.

  1. Anatomical variations in the brachial plexus roots: implications for diagnosis of neurogenic thoracic outlet syndrome.

    PubMed

    Leonhard, Vanessa; Smith, Riley; Caldwell, Gregory; Smith, Heather F

    2016-07-01

    Neurogenic thoracic outlet syndrome (NTOS) is the most common type of TOS. Typically it results from impingement of the neurovasculature as it passes between the anterior and middle scalene muscles; this classic anatomical relationship being the foundation of clinical diagnosis. Positional testing relies on vascular compromise occurring when the subclavian artery is compressed in this space. This study describes several anatomical variations observed in this relationship. Sixty-five cadavers (35m/30f) were assessed to determine the frequency and extent of brachial plexus branching variants. A total of thirty-one variations from "classic" anatomy were observed (47.7%). In two specimens (3.1%), the entire superior trunk coursed completely anterior to the anterior scalene in a position of relative vulnerability. In 27 instances, a portion of or the entire superior trunk pierced the anterior scalene muscle, and in two, the middle trunk also pierced the muscle belly. Interestingly, while two bilateral branching variations were observed, the majority occurred unilaterally, and almost exclusively on the left side. There were no sex differences in frequency. The high frequency of these variations and their potential to predispose patients to neurogenic TOS suggest that current diagnostic methods may be insufficient in clinical diagnosis. Due to lack of vascular compromise, patients with the piercing variant would not display positive signs on the traditional positional tests. The use of ultrasound to determine the route of the brachial plexus could determine whether this variation is present in patients who suffer from TOS symptoms but lack a diagnosis based on traditional positional testing. PMID:27133185

  2. Extended Long-Term (5 Years) Outcomes of Triangle Tilt Surgery in Obstetric Brachial Plexus Injury

    PubMed Central

    Nath, Rahul K; Somasundaram, Chandra

    2013-01-01

    Objective: We evaluated the "extended" long-term (5 years) functional outcomes in obstetric brachial plexus injury (OBPI) patients, who underwent triangle tilt surgery between February 2005 and January 2008. Methods: Twenty two children (9 girls and 13 boys, mean age at surgery was 5.8 years; ranging 2.1-11.8 years old), who initially presented with medial rotation contracture and scapula deformity secondary to obstetric brachial plexus injury were included in this study. Functional movements were evaluated pre-operatively, and 5 years following triangle tilt surgery by modified Mallet scale. Results: Here, we report long-term (5 years) follow-up of triangle tilt surgery for 22 OBPI patients. Upper extremity functional movements such as, external rotation (2.5±0.6 to 4.1±0.8, p<0.0001), hand-to-spine (2.6±0.6 to 3.4±1.1, p<0.005), hand-to-neck (2.7±0.7 to 4.3±0.7, p<0.0001), hand-to-mouth (2.3±0.9 (92º±33) to 4.2±0.5 (21º±16), p<0.0001), and supination (2.6±1.1 (-8.2º ±51) to 4.1±0.7 (61±32)) were significantly improved (p<0.0001), and maintained over the extended long-term (5 years). Total modified Mallet functional score was also shown to improve from 14.1±2.7 to 20.3±2.5. Conclusions: The triangle tilt surgery improved all shoulder functions significantly, and maintained over the extended long-term (5 years) in these patients. PMID:23730369

  3. Platelet to Lymphocyte Percentage Ratio Is Associated With Brachial-Ankle Pulse Wave Velocity in Hemodialysis.

    PubMed

    Chen, Szu-Chia; Lee, Mei-Yueh; Huang, Jiun-Chi; Tsai, Yi-Chun; Mai, Hsiu-Chin; Su, Ho-Ming; Chang, Jer-Ming; Chen, Hung-Chun

    2016-02-01

    Increased arterial stiffness in patients receiving hemodialysis (HD) is highly prevalent and is associated with cardiovascular morbidity and mortality. In HD, inflammation is one of the major causes of increased arterial stiffness. Activation of platelets and decreased lymphocyte percentage (LYMPH%) may exhibit inflammation. The aim of this study is to examine the relationship between platelet to LYMPH% ratio and arterial stiffness in HD patients.A total of 220 patients receiving HD were enrolled in this study. The brachial-ankle pulse wave velocity (baPWV) was measured using an ankle-brachial index form device. Multivariate linear regression analysis was performed to investigate the relations of the platelet to LYMPH% ratio and baPWV. The value of the platelet to LYMPH% ratio was 59.2 ± 33.3 (10 cells/L/%). After multivariate stepwise analysis, diabetes (β: 163.973, P = 0.02), high systolic blood pressure (per 1 mm Hg, β: 9.010, P < 0.001), high platelet to LYMPH% ratio (per 10 cells/L/%, β: 3.334, P < 0.01), and low albumin (per 0.1 mg/dL, β: -55.912, P < 0.001) were independently associated with an increased baPWV. Furthermore, high white blood cells (per 10 cells/L, β: 3.941, P < 0.001), high neutrophil percentage (per 1%, β: 1.144, P < 0.001), and high CRP (per 1 mg/L, β: 9.161, P = 0.03) were independently associated with an increased platelet to LYMPH% ratio.An increased platelet to LYMPH% ratio is associated with an increased baPWV in HD patients. An easy and inexpensive laboratory measure of platelet to LYMPH% ratio may provide an important information regarding arterial stiffness in patients with HD. PMID:26871812

  4. Comparative study of systemically and perineurally administered tramadol as an adjunct for supraclavicular brachial plexus block

    PubMed Central

    Nagpal, Vishal; Rana, Shelly; Singh, Jai; Chaudhary, Sudarshan Kumar

    2015-01-01

    Background and Aims: The study was designed to compare the effects of tramadol administered as an adjunct to bupivacaine in supraclavicular block to that of systemic administration, on postoperative analgesia and rescue analgesic requirement following upper limb surgeries. Material and Methods: A prospective, randomized, controlled, double-blind study was undertaken in patients scheduled for upper limb surgeries under supraclavicular block. All the three group patients received either of the following drugs mixtures: Group A — bupivacaine 0.5%-18 ml + normal saline-7 ml for block and normal saline-10 ml intravenously. Group B — bupivacaine 0.5%-18 ml + normal saline-7 ml mixture for block and tramadol (100 mg) diluted to 10 ml — intravenously. Group C — bupivacaine 0.5%-18 ml + tramadol (100 mg) + normal saline-5 ml mixture and normal saline 10 ml intravenously. The patients were observed for sensory, motor onset along with the duration of sensory and motor block. Patients were monitored for sedation and hemodynamic parameters during intra-operative and postoperative period. Pain-free period and demand for rescue analgesia was noted in all the patients. Results: The study demonstrates that the mixture of tramadol and bupivacaine injected perineurally for supraclavicular brachial plexus block hastens the onset of sensory block, motor block and provides a longer duration of motor blockade and demand for rescue analgesia as compared to other two groups. Conclusions: In conclusion, the addition of tramadol to bupivacaine mixtures as an adjunct for supraclavicular brachial plexus block provide better postoperative analgesia for orthopedic upper extremity surgery in comparison to control or systemic tramadol group without any side effects. PMID:25948899

  5. Characterizing Methods of Measuring Flow-Mediated Dilation in the Brachial Artery

    NASA Technical Reports Server (NTRS)

    Callender, Ariane R.

    2010-01-01

    Regulation of vascular tone is one of the many important functions of the vascular endothelium. Endothelial dysfunction is a critical early event in the pathogenesis of atherosclerosis and occurs in the absence of angiographic disease. Flow-Mediated Dilation (FMD) is a noninvasive technique commonly used to evaluate endothelium-dependent vasodilation in humans and gauge the health of the cardiovascular system. Reductions in brachial artery FMD have been strongly correlated with disease progression and are predictive of future cardiac events. The flow stimulus for brachial artery FMD occurs as a result of the increased shear stress following deflation of an occlusion cuff around the upper arm. Using 2-dimensional ultrasound, changes in arterial diameter up to 5-minutes following cuff deflation are calculated from baseline image measurements. Along with pulsed Doppler measures of flow velocity through the artery, flow-mediated, endothelium-dependent vasodilation can be assessed. There is debate among investigators, however, about the proper positioning of the occlusion cuff during FMD testing. It is thought that placement of the cuff around the upper arm may not accurately reflect the impact of nitric oxide, a critically important molecule released as a result of the increased shear stress created by the FMD technique. Data suggest that the production of other endogenous metabolites may also contribute to FMD-related changes when positioning the cuff around the upper arm. To overcome the potential influence of such molecules, researchers now suggest that the occlusion cuff be placed below the elbow allowing a more precise estimate of nitric oxide mediated dilation. The purpose of this study is to compare the differences in FMD between the two methodologies of occlusion cuff placement. In addition, this study will determine the method that is easier for ultrasound technicians to perform and will produce a low coefficient of variance between technicians. Ultimately

  6. Brachial arterial temperature as an indicator of core temperature: proof of concept and potential applications.

    PubMed

    Pawley, Matthew D M; Martinsen, Paul; Mitchell, Simon J; Cheeseman, James F; Merry, Alan F; Willcox, Timothy; Grieve, Robert; Nand, Parma; Davies, Elaine; Warman, Guy R

    2013-06-01

    There is potential for heat loss and hypothermia during anesthesia and also for hyperthermia if heat conservation and active warming measures are not accurately titrated. Accurate temperature monitoring is particularly important in procedures in which the patient is actively cooled and then rewarmed such as during cardiopulmonary bypass surgery (CPB). We simultaneously measured core, nasopharyngeal, and brachial artery temperatures to investigate the last named as a potential peripheral temperature monitoring site. Ten patients undergoing hypothermic CPB were instrumented for simultaneous monitoring of temperatures in the pulmonary artery (PA), aortic arterial inflow (AI), nasopharynx (NP), and brachial artery (BA). Core temperature was defined as PA temperature before and after CPB and the AI temperature during CPB. Mean deviations of BA and NP temperatures from core temperature were calculated for three steady-state periods (before, during, and after CPB). Mean deviation of BA and NP temperatures from AI temperature was also calculated during active rewarming. A total of 1862 measurements were obtained and logged from eight patients. Mean BA and NP deviations from core temperature across the steady-state periods (before, during, and after CBP) were, respectively: .23 +/- .25, -.26 +/- .3, and -.09 +/- .05 degrees C (BA), and .11 +/- .19, -.1 +/- .47, and -.04 +/- .3 degrees C (NP). During steady-state periods, there was no evidence of a difference between the mean BA and NP deviation. During active rewarming, the mean difference between the BA and AI temperatures was .14 +/- .36 degrees C. During this period, NP temperature lagged behind AI and BA temperatures by up to 41 minutes and was up to 5.3 degres C lower than BA (mean difference between BA and NP temperatures was 1.22 +/- .58 degrees C). The BA temperature is an adequate surrogate for core temperature. It also accurately tracks the changing AI temperature during rewarming and is therefore potentially

  7. Brachial Neuritis With Phrenic Nerve Involvement in a Patient With a Possible Connective Tissue Disease

    PubMed Central

    Subash, Meera; Patel, Gaurav; Welker, John

    2014-01-01

    Background. Brachial neuritis (BN) is a rare inflammatory condition of peripheral nerves, usually involving the cervicobrachial plexus. These patients present with sudden onset of shoulder and arm pain that evolves into muscle weakness and atrophy.. Case Report. A 33-year-old woman presented with a 1-month history of diffuse pain in her thorax. She had no trauma or inciting incident prior to the onset of this pain and was initially treated for muscle spasms. The patient was seen in the emergency room multiple times and was treated with several courses of antibiotics for pneumonia on the basis of clinical symptoms and abnormal x-rays. The pleuritic chest pain persisted for at least 4 months, and the patient was eventually admitted for worsening pain and dyspnea. On physical examination, crackles were heard at both lung bases, and chest inspection revealed increased expansion in the upper thorax but poor expansion of the lower thorax and mild paradoxical respiration. “Sniff” test revealed no motion of the left hemidiaphragm and reduced motion on the right hemidiaphragm. Her computed tomography scan revealed bilateral atelectasis, more severe at the left base. She reported no symptoms involving her joints or skin or abdomen. Her presentation and clinical course are best explained by BN with a bilateral diaphragmatic weakness. However, she had a positive ANA, RF, anti-RNP antibody, and anti SS-A. Conclusion. Patients with BN can present with diffuse thoracic pain, pleuritic chest pain, and diaphragmatic weakness. Our patient may represent a case of connective tissue disease presenting with brachial plexus neuritis. PMID:26425609

  8. The relation between amyotrophic lateral sclerosis and inorganic selenium in drinking water: a population-based case-control study

    PubMed Central

    2010-01-01

    Background A community in northern Italy was previously reported to have an excess incidence of amyotrophic lateral sclerosis among residents exposed to high levels of inorganic selenium in their drinking water. Methods To assess the extent to which such association persisted in the decade following its initial observation, we conducted a population-based case-control study encompassing forty-one newly-diagnosed cases of amyotrophic lateral sclerosis and eighty-two age- and sex-matched controls. We measured long-term intake of inorganic selenium along with other potentially neurotoxic trace elements. Results We found that consumption of drinking water containing ≥ 1 μg/l of inorganic selenium was associated with a relative risk for amyotrophic lateral sclerosis of 5.4 (95% confidence interval 1.1-26) after adjustment for confounding factors. Greater amounts of cumulative inorganic selenium intake were associated with progressively increasing effects, with a relative risk of 2.1 (95% confidence interval 0.5-9.1) for intermediate levels of cumulative intake and 6.4 (95% confidence interval 1.3-31) for high intake. Conclusion Based on these results, coupled with other epidemiologic data and with findings from animal studies that show specific toxicity of the trace element on motor neurons, we hypothesize that dietary intake of inorganic selenium through drinking water increases the risk for amyotrophic lateral sclerosis. PMID:21134276

  9. Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms.

    PubMed

    Figueroa-Romero, Claudia; Hur, Junguk; Lunn, J Simon; Paez-Colasante, Ximena; Bender, Diane E; Yung, Raymond; Sakowski, Stacey A; Feldman, Eva L

    2016-03-01

    Amyotrophic lateral sclerosis is a late-onset and terminal neurodegenerative disease. The majority of cases are sporadic with unknown causes and only a small number of cases are genetically linked. Recent evidence suggests that post-transcriptional regulation and epigenetic mechanisms, such as microRNAs, underlie the onset and progression of neurodegenerative disorders; therefore, altered microRNA expression may result in the dysregulation of key genes and biological pathways that contribute to the development of sporadic amyotrophic lateral sclerosis. Using systems biology analyses on postmortem human spinal cord tissue, we identified dysregulated mature microRNAs and their potential targets previously implicated in functional process and pathways associated with the pathogenesis of ALS. Furthermore, we report a global reduction of mature microRNAs, alterations in microRNA processing, and support for a role of the nucleotide binding protein, TAR DNA binding protein 43, in regulating sporadic amyotrophic lateral sclerosis-associated microRNAs, thereby offering a potential underlying mechanism for sporadic amyotrophic lateral sclerosis.

  10. [Non-invasive mechanical ventilation with a facial interface during sedation for a percutaneous endoscopic gastrostomy in a patient with amyotrophic lateral sclerosis].

    PubMed

    González-Frasquet, M C; García-Covisa, N; Vidagany-Espert, L; Herranz-Gordo, A; Llopis-Calatayud, J E

    2015-11-01

    Amyotrophic lateral sclerosis is a chronic neurodegenerative disease of the central nervous system which affects the motor neurons and produces a progressive muscle weakness, leading to atrophy and muscle paralysis, and ultimately death. Performing a percutaneous endoscopic gastrostomy with sedation in patients with amyotrophic lateral sclerosis can be a challenge for the anesthesiologist. The case is presented of a 76-year-old patient who suffered from advanced stage amyotrophic lateral sclerosis, ASA III, in which a percutaneous endoscopic gastrostomy was performed with deep sedation, for which non-invasive ventilation was used as a respiratory support to prevent hypoventilation and postoperative respiratory complications. PMID:25804680

  11. [Non-invasive mechanical ventilation with a facial interface during sedation for a percutaneous endoscopic gastrostomy in a patient with amyotrophic lateral sclerosis].

    PubMed

    González-Frasquet, M C; García-Covisa, N; Vidagany-Espert, L; Herranz-Gordo, A; Llopis-Calatayud, J E

    2015-11-01

    Amyotrophic lateral sclerosis is a chronic neurodegenerative disease of the central nervous system which affects the motor neurons and produces a progressive muscle weakness, leading to atrophy and muscle paralysis, and ultimately death. Performing a percutaneous endoscopic gastrostomy with sedation in patients with amyotrophic lateral sclerosis can be a challenge for the anesthesiologist. The case is presented of a 76-year-old patient who suffered from advanced stage amyotrophic lateral sclerosis, ASA III, in which a percutaneous endoscopic gastrostomy was performed with deep sedation, for which non-invasive ventilation was used as a respiratory support to prevent hypoventilation and postoperative respiratory complications.

  12. Dose–Volume Modeling of Brachial Plexus-Associated Neuropathy After Radiation Therapy for Head-and-Neck Cancer: Findings From a Prospective Screening Protocol

    SciTech Connect

    Chen, Allen M.; Wang, Pin-Chieh; Daly, Megan E.; Cui, Jing; Hall, William H.; Vijayakumar, Srinivasan; Phillips, Theodore L.; Farwell, D. Gregory; Purdy, James A.

    2014-03-15

    Purpose: Data from a prospective screening protocol administered for patients previously irradiated for head-and-neck cancer was analyzed to identify dosimetric predictors of brachial plexus-associated neuropathy. Methods and Materials: Three hundred fifty-two patients who had previously completed radiation therapy for squamous cell carcinoma of the head and neck were prospectively screened from August 2007 to April 2013 using a standardized self-administered instrument for symptoms of neuropathy thought to be related to brachial plexus injury. All patients were disease-free at the time of screening. The median time from radiation therapy was 40 months (range, 6-111 months). A total of 177 patients (50%) underwent neck dissection. Two hundred twenty-one patients (63%) received concurrent chemotherapy. Results: Fifty-one patients (14%) reported brachial plexus-related neuropathic symptoms with the most common being ipsilateral pain (50%), numbness/tingling (40%), and motor weakness and/or muscle atrophy (25%). The 3- and 5-year estimates of freedom from brachial plexus-associated neuropathy were 86% and 81%, respectively. Clinical/pathological N3 disease (P<.001) and maximum radiation dose to the ipsilateral brachial plexus (P=.01) were significantly associated with neuropathic symptoms. Cox regression analysis revealed significant dose–volume effects for brachial plexus-associated neuropathy. The volume of the ipsilateral brachial plexus receiving >70 Gy (V70) predicted for symptoms, with the incidence increasing with V70 >10% (P<.001). A correlation was also observed for the volume receiving >74 Gy (V74) among patients treated without neck dissection, with a cutoff of 4% predictive of symptoms (P=.038). Conclusions: Dose–volume guidelines were developed for radiation planning that may limit brachial plexus-related neuropathies.

  13. Proximal Junctional Kyphosis: Diagnosis, Pathogenesis, and Treatment

    PubMed Central

    Lee, Jaewon

    2016-01-01

    Proximal junctional kyphosis (PJK) is a common radiographic finding after long spinal fusion. A number of studies on the causes, risk factors, prevention, and treatment of PJK have been conducted. However, no clear definition of PJK has been established. In this paper, we aimed to clarify the diagnosis, prevention, and treatment of PJK by reviewing relevant papers that have been published to date. A literature search was conducted on PubMed using "proximal junctional", "proximal junctional kyphosis", and "proximal junctional failure" as search keywords. Only studies that were published in English were included in this study. The incidence of PJK ranges from 5% to 46%, and it has been reported that 66% of cases occur 3 months after surgery and approximately 80% occur within 18 months. A number of studies have reported that there is no significantly different clinical outcome between PJK patients and non-PJK patients. One study showed that PJK patients expressed more pain than non-PJK patients. However, recent studies focused on proximal junctional failure (PJF), which is accepted as a severe form of PJK. PJF showed significant adverse impact in clinical aspect such as pain, neurologic deficit, ambulatory difficulties, and social isolation. Numerous previous studies have identified various risk factors and reported on the treatment and prevention of PJK. Based on these studies, we determined the clinical significance and impact of PJK. In addition, it is important to find a strategic approach to the proper treatment of PJK. PMID:27340542

  14. Non-invasive assessment of peripheral arterial disease: Automated ankle brachial index measurement and pulse volume analysis compared to duplex scan

    PubMed Central

    Lewis, Jane EA; Williams, Paul; Davies, Jane H

    2016-01-01

    Objectives: This cross-sectional study aimed to individually and cumulatively compare sensitivity and specificity of the (1) ankle brachial index and (2) pulse volume waveform analysis recorded by the same automated device, with the presence or absence of peripheral arterial disease being verified by ultrasound duplex scan. Methods: Patients (n=205) referred for lower limb arterial assessment underwent ankle brachial index measurement and pulse volume waveform recording using volume plethysmography, followed by ultrasound duplex scan. The presence of peripheral arterial disease was recorded if ankle brachial index <0.9; pulse volume waveform was graded as 2, 3 or 4; or if haemodynamically significant stenosis >50% was evident with ultrasound duplex scan. Outcome measure was agreement between the measured ankle brachial index and interpretation of pulse volume waveform for peripheral arterial disease diagnosis, using ultrasound duplex scan as the reference standard. Results: Sensitivity of ankle brachial index was 79%, specificity 91% and overall accuracy 88%. Pulse volume waveform sensitivity was 97%, specificity 81% and overall accuracy 85%. The combined sensitivity of ankle brachial index and pulse volume waveform was 100%, specificity 76% and overall accuracy 85%. Conclusion: Combining these two diagnostic modalities within one device provided a highly accurate method of ruling out peripheral arterial disease, which could be utilised in primary care to safely reduce unnecessary secondary care referrals. PMID:27493755

  15. Increased in vivo glial activation in patients with amyotrophic lateral sclerosis: Assessed with [11C]-PBR28

    PubMed Central

    Zürcher, Nicole R.; Loggia, Marco L.; Lawson, Robert; Chonde, Daniel B.; Izquierdo-Garcia, David; Yasek, Julia E.; Akeju, Oluwaseun; Catana, Ciprian; Rosen, Bruce R.; Cudkowicz, Merit E.; Hooker, Jacob M.; Atassi, Nazem

    2015-01-01

    Evidence from human post mortem, in vivo and animal model studies implicates the neuroimmune system and activated microglia in the pathology of amyotrophic lateral sclerosis. The study aim was to further evaluate in vivo neuroinflammation in individuals with amyotrophic lateral sclerosis using [11C]-PBR28 positron emission tomography. Ten patients with amyotrophic lateral sclerosis (seven males, three females, 38–68 years) and ten age- and [11C]-PBR28 binding affinity-matched healthy volunteers (six males, four females, 33–65 years) completed a positron emission tomography scan. Standardized uptake values were calculated from 60 to 90 min post-injection and normalized to whole brain mean. Voxel-wise analysis showed increased binding in the motor cortices and corticospinal tracts in patients with amyotrophic lateral sclerosis compared to healthy controls (pFWE < 0.05). Region of interest analysis revealed increased [11C]-PBR28 binding in the precentral gyrus in patients (normalized standardized uptake value = 1.15) compared to controls (1.03, p < 0.05). In patients those values were positively correlated with upper motor neuron burden scores (r = 0.69, p < 0.05), and negatively correlated with the amyotrophic lateral sclerosis functional rating scale (r = –0.66, p < 0.05). Increased in vivo glial activation in motor cortices, that correlates with phenotype, complements previous histopathological reports. Further studies will determine the role of [11C]-PBR28 as a marker of treatments that target neuroinflammation. PMID:25685708

  16. Increased in vivo glial activation in patients with amyotrophic lateral sclerosis: assessed with [(11)C]-PBR28.

    PubMed

    Zürcher, Nicole R; Loggia, Marco L; Lawson, Robert; Chonde, Daniel B; Izquierdo-Garcia, David; Yasek, Julia E; Akeju, Oluwaseun; Catana, Ciprian; Rosen, Bruce R; Cudkowicz, Merit E; Hooker, Jacob M; Atassi, Nazem

    2015-01-01

    Evidence from human post mortem, in vivo and animal model studies implicates the neuroimmune system and activated microglia in the pathology of amyotrophic lateral sclerosis. The study aim was to further evaluate in vivo neuroinflammation in individuals with amyotrophic lateral sclerosis using [(11)C]-PBR28 positron emission tomography. Ten patients with amyotrophic lateral sclerosis (seven males, three females, 38-68 years) and ten age- and [(11)C]-PBR28 binding affinity-matched healthy volunteers (six males, four females, 33-65 years) completed a positron emission tomography scan. Standardized uptake values were calculated from 60 to 90 min post-injection and normalized to whole brain mean. Voxel-wise analysis showed increased binding in the motor cortices and corticospinal tracts in patients with amyotrophic lateral sclerosis compared to healthy controls (p FWE < 0.05). Region of interest analysis revealed increased [(11)C]-PBR28 binding in the precentral gyrus in patients (normalized standardized uptake value = 1.15) compared to controls (1.03, p < 0.05). In patients those values were positively correlated with upper motor neuron burden scores (r = 0.69, p < 0.05), and negatively correlated with the amyotrophic lateral sclerosis functional rating scale (r = -0.66, p < 0.05). Increased in vivo glial activation in motor cortices, that correlates with phenotype, complements previous histopathological reports. Further studies will determine the role of [(11)C]-PBR28 as a marker of treatments that target neuroinflammation.

  17. Proximity assays for sensitive quantification of proteins.

    PubMed

    Greenwood, Christina; Ruff, David; Kirvell, Sara; Johnson, Gemma; Dhillon, Harvinder S; Bustin, Stephen A

    2015-06-01

    Proximity assays are immunohistochemical tools that utilise two or more DNA-tagged aptamers or antibodies binding in close proximity to the same protein or protein complex. Amplification by PCR or isothermal methods and hybridisation of a labelled probe to its DNA target generates a signal that enables sensitive and robust detection of proteins, protein modifications or protein-protein interactions. Assays can be carried out in homogeneous or solid phase formats and in situ assays can visualise single protein molecules or complexes with high spatial accuracy. These properties highlight the potential of proximity assays in research, diagnostic, pharmacological and many other applications that require sensitive, specific and accurate assessments of protein expression. PMID:27077033

  18. Proximity assays for sensitive quantification of proteins

    PubMed Central

    Greenwood, Christina; Ruff, David; Kirvell, Sara; Johnson, Gemma; Dhillon, Harvinder S.; Bustin, Stephen A.

    2015-01-01

    Proximity assays are immunohistochemical tools that utilise two or more DNA-tagged aptamers or antibodies binding in close proximity to the same protein or protein complex. Amplification by PCR or isothermal methods and hybridisation of a labelled probe to its DNA target generates a signal that enables sensitive and robust detection of proteins, protein modifications or protein–protein interactions. Assays can be carried out in homogeneous or solid phase formats and in situ assays can visualise single protein molecules or complexes with high spatial accuracy. These properties highlight the potential of proximity assays in research, diagnostic, pharmacological and many other applications that require sensitive, specific and accurate assessments of protein expression. PMID:27077033

  19. Therapeutic application of electrical stimulation and constraint induced movement therapy in perinatal brachial plexus injury: A case report.

    PubMed

    Berggren, Jamie; Baker, Lucinda L

    2015-01-01

    Infants and children with perinatal brachial plexus injury (PBPI) have motion limitations in the shoulder, elbow, forearm and hand that are dependent on the level of injury and degree of recovery. The injury and subsequent recovery period occur during critical periods of central and spinal neural development placing infants and children at-risk for developmental disregard and disuse of the affected arm and hand. A case report outlines the therapy and surgical interventions provided in the first 2 years of life for a child with global PBPI and a positive Horner's sign. Electrical stimulation and constraint induced movement therapy provided sequentially were effective therapy interventions. Neurosurgery to repair the brachial plexus was performed at an optimal time period.(2) The Assisting Hand Assessment,(12) Modified Mallet(13) and Active Movement Scale(14) are effective outcome measures in PBPI and served as valuable guides for therapy intervention. Oxford Level of Evidence: 3b; Individual Case Control Study.

  20. The brachial plexus branches to the pectoral muscles in adult rats: morphological aspects and morphometric normative data

    PubMed Central

    Riva, Nilo; Domi, Teuta; Lopez, Ignazio Diego; Triolo, Daniela; Fossaghi, Andrea; Dina, Giorgia; Podini, Paola; Comi, Giancarlo; Quattrini, Angelo

    2012-01-01

    Animal models provide an important tool to investigate the pathogenesis of neuromuscular disorders. In the present study, we analyze fiber composition of the brachial plexus branches to the pectoral muscles: the medial anterior thoracic nerve (MATN) and the lateral anterior thoracic nerve (LATN). The morphological and morphometric characteristics and the percentage of motor fibers within each nerve are here reported, adding information to microscopic anatomy knowledge of the rat brachial plexus. As control, we employed the quadriceps nerve, commonly used for the evaluation of motor fibers at hindlimbs. We demonstrated that the MATN and the LATN are predominantly composed of large motor fibers and therefore could be employed to evaluate the peripheral nervous system (PNS) involvement at forelimbs in neurological diseases models, predominantly affecting the motor fiber compartment. PMID:23087618

  1. Existence and convergence of best proximity points

    NASA Astrophysics Data System (ADS)

    Eldred, A. Anthony; Veeramani, P.

    2006-11-01

    Consider a self map T defined on the union of two subsets A and B of a metric space and satisfying T(A)[subset of or equal to]B and T(B)[subset of or equal to]A. We give some contraction type existence results for a best proximity point, that is, a point x such that d(x,Tx)=dist(A,B). We also give an algorithm to find a best proximity point for the map T in the setting of a uniformly convex Banach space.

  2. [Dextrocardia in situs inversus totalis with obstructive coronary disease. Its treatment by coronary angioplasty by the brachial approach].

    PubMed

    da Silva, M J; Arie, S; Garcia, D P; Bellotti, G; Pileggi, F

    1992-10-01

    Dextrocardia in "situs inversus totalis" with obstructive coronary disease is a rare clinical situation, with few cases treated by coronary angioplasty using the femoral approach being reported. In this report we describe the case of a 61-year-old male patient who underwent successful dilatation of two arteries by the brachial approach. We discuss technical aspects related to the procedure, which may be easily performed when proper equipment is available.

  3. Sensory disturbances and pain complaints after brachial plexus root injury: a prospective study involving 150 adult patients.

    PubMed

    Bertelli, Jayme Augusto; Ghizoni, Marcos Flávio; Loure Iro Chaves, Daniel Preissler

    2011-02-01

    After injury of the brachial plexus, sensory disturbance in the affected limb varies according to the extent of root involvement. The goal of this study was to match sensory assessments and pain complaints with findings on CT myelo scans and surgical observations. One hundred fifty patients with supraclavicular stretch injury of the brachial plexus were operated upon within an average of 5.4 months of trauma. Preoperatively, upper limb sensation was evaluated using Semmes-Weinstein monofilaments. Pain complaints were recorded for each patient. With lesions affecting the upper roots of the brachial plexus, hand sensation was largerly preserved. Sensory disturbances were identified over a longitudinal bundle on the lateral arm and forearm. In C8-T1 root injuries, diminished protective sensation was observed on the ulnar aspect of the hand. If the C7 root also was injured, sensation in the long finger was impaired. Eighty-four percent of our 64 patients with total palsy reported pain, versus just 47% of our 72 patients with upper type palsies. This rate dropped to 29% in the 14 patients with a lower-type palsy. C8 and T1, when injured, always were avulsed from the cord; when avulsion of these roots was the only nerve injury, pain was absent. Hand sensation was largely preserved in patients with partial injuries of the brachial plexus, particularly on the radial side. Even when T1 was the only preserved root, hand sensation was mostly spared. This indicates that overlapping of the dermatomal zones seems much more widespread than previously reported.

  4. Supraclavicular Brachial Plexus Block With or Without Dexamethasone as an Adjuvant to 0.5% Levobupivacaine: A Comparative Study

    PubMed Central

    Bhupal, Jatinder Paul Singh; Kumar, Parmod; Gandhi, Gurjit Singh

    2016-01-01

    Introduction Brachial plexus block is an excellent method for attaining optimal operating conditions by producing complete muscular relaxation, maintaining stable intraoperative haemodynamics and the associated sympathetic block. In addition, they provide extended postoperative analgesia with minimal side effects. Different adjuvants have been described in literature to hasten the onset and prolong the duration of block. The present study was conducted to study the effect of adding dexamethasone to levobupivacaine in supraclavicular brachial plexus block. Aim To observe the effect of dexamethasone on onset and duration of anaesthesia, when used as an adjuvant to levobupivacaine in supraclavicular brachial plexus block. Materials and Methods A total of 60 patients in the age group of 18-65 years belonging to ASA physical status I or II were included in the study. They are randomly allocated in two groups and each group included 30 patients. In group 1, patients received 30ml of 0.5% isobaric levobupivacaine with 2ml of isotonic sodium chloride. In group 2 patients received 8mg (2ml) dexamethasone in addition to 30ml of 0.5% isobaric levobupivacaine. Results The results showed that the onset of sensory and motor block were faster in group 2(p<0.05). The duration of sensory and motor block were significantly longer in group 2 (p<0.05). VAS score at 12 hours were significantly lower in group 2 (p<0.05). None of the patients had bradycardia, hypotension or any other side effects. Conclusion Dexamethasone added to levobupivacaine for supraclavicular brachial plexus block reduces the time to onset of sensory and motor blockage and prolongs the duration of analgesia. PMID:27504384

  5. Unusual and Unique Variant Branches of Lateral Cord of Brachial Plexus and its Clinical Implications- A Cadaveric Study

    PubMed Central

    Padur, Ashwini Aithal; Shanthakumar, Swamy Ravindra; Shetty, Surekha Devadas; Prabhu, Gayathri Sharath; Patil, Jyothsna

    2016-01-01

    Introduction Adequate knowledge on variant morphology of brachial plexus and its branches are important in clinical applications pertaining to trauma and surgical procedures of the upper extremity. Aim Current study was aimed to report variations of the branches of the lateral cord of brachial plexus in the axilla and their possible clinical complications. Materials and Methods Total number of 82 upper limbs from 41 formalin embalmed cadavers was dissected. Careful observation was made to note the formation and branching pattern of lateral cord. Meticulous inspection for absence of branches, presence of additional or variant branches and presence of abnormal communications between its branches or with branches of other cords was carried out. Results In the present study, we noted varied branching pattern of lateral cord in 6 out of 82 limbs (7%). In one of the limb, the median nerve was formed by three roots; two from lateral cord and one from medial cord. Two limbs had absence of lateral pectoral nerve supplemented by medial pectoral nerves. One of which had an atypical ansa pectoralis. In 2 upper limbs, musculocutaneous nerve was absent and in both cases it was supplemented by median nerve. In one of the limb, coracobrachialis had dual nerve supply by musculocutaneous nerve and by an additional branch from the lateral cord. Conclusion Variations of brachial plexus and its branches could pose both intraoperative and postoperative complications which eventually affect the normal sensory and motor functions of the upper limb. PMID:27190783

  6. TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

    PubMed

    Le Ber, Isabelle; De Septenville, Anne; Millecamps, Stéphanie; Camuzat, Agnès; Caroppo, Paola; Couratier, Philippe; Blanc, Frédéric; Lacomblez, Lucette; Sellal, François; Fleury, Marie-Céline; Meininger, Vincent; Cazeneuve, Cécile; Clot, Fabienne; Flabeau, Olivier; LeGuern, Eric; Brice, Alexis

    2015-11-01

    TANK1-binding kinase 1 (TBK1) has been recently identified as a new amyotrophic lateral sclerosis (ALS) gene. Loss-of-function (LoF) mutations in TBK1 could be responsible for 0.4%-4% of ALS. Considering the strong genetic overlap existing between frontotemporal dementia (FTD) and ALS, we have evaluated the frequencies of TBK1 mutations in a cohort of French FTD and of ALS patients. We identified 5 LoF mutations, in 4 FTD-ALS and 1 ALS patients. We also identified 5 heterozygous missense variants, predicted to be deleterious, in 1 isolated FTD, 1 FTD-ALS, and 3 ALS cases. Our results demonstrate that TBK1 loss-of-function mutations are more frequent in patients with FTD-ALS (10.8%) than in isolated ALS. TBK1 should thus also be sequenced, after exclusion of C9orf72 mutation, in patients presenting FTD, particularly in cases secondarily associated with ALS.

  7. Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis.

    PubMed

    Coppedè, Fabio; Migheli, Francesca; Lo Gerfo, Annalisa; Fabbrizi, Maria Rita; Carlesi, Cecilia; Mancuso, Michelangelo; Corti, Stefania; Mezzina, Nicoletta; del Bo, Roberto; Comi, Giacomo P; Siciliano, Gabriele; Migliore, Lucia

    2010-01-01

    The aim of the present study was to investigate the possible contribution of three common functional polymorphisms in the DNA repair protein X-ray repair cross-complementing group 1 (XRCC1), namely Arg194Trp (rs1799782), Arg280His (rs25489) and Arg399Gln (rs25487), to sporadic amyotrophic lateral sclerosis (SALS). We genotyped 206 Italian SALS patients and 203 matched controls for XRCC1 Arg194Trp, Arg280His and Arg399Gln polymorphisms by means of PCR/RFLP technique, searching for association between any of the studied polymorphisms and disease risk, age and site of onset. We observed a statistically significant difference in XRCC1 Gln399 allele frequencies between SALS cases and controls (0.39/0.28; p=0.001). The present study suggests that the XRCC1 Arg399Gln polymorphism might contribute to SALS risk. PMID:19707910

  8. Genes and Environmental Exposures in Veterans with Amyotrophic Lateral Sclerosis: The GENEVA Study

    PubMed Central

    Schmidt, Silke; Allen, Kelli D.; Loiacono, Valerie T.; Norman, Barbara; Stanwyck, Catherine L.; Nord, Kristina M.; Williams, Christina D.; Kasarskis, Edward J.; Kamel, Freya; McGuire, Valerie; Nelson, Lorene M.; Oddone, Eugene Z.

    2008-01-01

    Recent reports of a potentially increased risk of amyotrophic lateral sclerosis (ALS) for veterans deployed to the 1990–1991 Persian Gulf War prompted the Department of Veterans Affairs to establish a National Registry of Veterans with ALS, charged with the goal of enrolling all US veterans with a neurologist-confirmed diagnosis of ALS. The Genes and Environmental Exposures in Veterans with ALS study (GENEVA) is a case-control study presently enrolling cases from the Department of Veterans Affairs registry and a representative sample of veteran controls to evaluate the joint contributions of genetic susceptibility and environmental exposures to the risk of sporadic ALS. The GENEVA study design, recruitment strategies, methods of collecting DNA samples and environmental risk factor information are described here, along with a summary of demographic characteristics of the participants (537 cases, 292 controls) enrolled to date. PMID:18421219

  9. Initial gene vector dosing for studying symptomatology of amyotrophic lateral sclerosis in non-human primates

    PubMed Central

    Jackson, Kasey L.; Dayton, Robert D.; Fisher-Perkins, Jeanne M.; Didier, Peter J.; Baker, Kate C.; Weimer, Maria; Gutierrez, Amparo; Cain, Cooper D.; Mathis, J. Michael; Gitcho, Michael A.; Bunnell, Bruce A.; Klein, Ronald L.

    2015-01-01

    Background Most amyotrophic lateral sclerosis (ALS) research has focused on mice, but there are distinct differences in the functional neuroanatomy of the corticospinal pathway in primates vs. rodents. A non-human primate model may be more sensitive and more predictive for therapeutic efficacy. Methods Rhesus macaques received recombinant adeno-associated virus (AAV9) encoding either the ALS-related pathological protein TDP-43 or a green fluorescent protein (GFP) control by intravenous administration. Motor function and electromyography were assessed over a nine-month expression interval followed by post-mortem analyses. Results Recombinant TDP-43 or GFP was stably expressed long term. Although the TDP-43 subjects did not manifest severe paralysis and atrophy, there were trends of a partial disease state in the TDP-43 subjects relative to the control. Conclusions These data indicate that a higher gene vector dose will likely be necessary for more robust effects, yet augur that a relevant primate model is feasible. PMID:25639184

  10. Altered Metabolic Homeostasis in Amyotrophic Lateral Sclerosis: Mechanisms of Energy Imbalance and Contribution to Disease Progression.

    PubMed

    Ioannides, Zara A; Ngo, Shyuan T; Henderson, Robert D; McCombe, Pamela A; Steyn, Frederik J

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of motor neurones, which leads to paralysis and death in an average of 3 years following diagnosis. The cause of ALS is unknown, but there is substantial evidence that metabolic factors, including nutritional state and body weight, affect disease progression and survival. This review provides an overview of the characteristics of metabolic dysregulation in ALS focusing on mechanisms that lead to disrupted energy supply (at a whole-body and cellular level) and altered energy expenditure. We discuss how a decrease in energy supply occurs in parallel with an increase in energy demand and leads to a state of chronic energy deficit which has a negative impact on disease outcome in ALS. We conclude by presenting potential and tested strategies to compensate for, or correct this energy imbalance, and speculate on promising areas for further research. PMID:27400276

  11. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

    PubMed

    Kwiatkowski, T J; Bosco, D A; Leclerc, A L; Tamrazian, E; Vanderburg, C R; Russ, C; Davis, A; Gilchrist, J; Kasarskis, E J; Munsat, T; Valdmanis, P; Rouleau, G A; Hosler, B A; Cortelli, P; de Jong, P J; Yoshinaga, Y; Haines, J L; Pericak-Vance, M A; Yan, J; Ticozzi, N; Siddique, T; McKenna-Yasek, D; Sapp, P C; Horvitz, H R; Landers, J E; Brown, R H

    2009-02-27

    Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus. In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS. Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders. PMID:19251627

  12. Elastin cross-linking in the skin from patients with amyotrophic lateral sclerosis

    NASA Technical Reports Server (NTRS)

    Ono, S.; Yamauchi, M.

    1994-01-01

    Two cross-links unique to elastin, desmosine and isodesmosine were measured and compared in skin tissue (left upper arm) from 10 patients with amyotrophic lateral sclerosis (ALS) and from seven age-matched controls. The contents of desmosine and isodesmosine were significantly decreased (p < 0.01 and p < 0.01, respectively) in patients with ALS compared with those of controls, and were negatively and significantly associated with duration of illness in ALS patients (r = -0.77, p < 0.01 and r = -0.65, p < 0.05, respectively). The decline in skin desmosine and isodesmosine is more rapid in ALS than in normal ageing. Thus cross-linking of skin elastin is affected in ALS.

  13. Hyaluronic acid is increased in the skin and urine in patients with amyotrophic lateral sclerosis

    NASA Technical Reports Server (NTRS)

    Ono, S.; Imai, T.; Yamauchi, M.; Nagao, K.

    1996-01-01

    We performed morphological studies of skin and measured glycosaminoglycans in the urine from patients with sporadic amyotrophic lateral sclerosis (ALS) and control subjects. The wide spaces separating collagen bundles reacted strongly with alcian blue stain in ALS patients and stained more markedly as ALS progressed. Staining with alcian blue was virtually eliminated by Streptomyces hyaluronidase. The urinary excretion of hyaluronic acid (HA) (mg/day) was significantly increased (P < 0.01) in ALS patients compared with that of control subjects, and there was a significant positive correlation between the excreted amount of HA and the duration of illness in advanced ALS patients with a duration of more than 2 years from clinical onset (r = 0.72, P < 0.02). We suggest that sporadic ALS includes a metabolic disorder of HA in which an accumulation of HA in the skin is linked to an increased urinary excretion of HA.

  14. Benefit of a combined treatment with trientine and ascorbate in familial amyotrophic lateral sclerosis model mice.

    PubMed

    Nagano, S; Ogawa, Y; Yanagihara, T; Sakoda, S

    1999-04-23

    We previously reported that the common toxic gain-of-function in various mutant copper-zinc superoxide dismutases (SOD1) seen in patients with familial amyotrophic lateral sclerosis (ALS) was an abnormal copper release from the enzyme protein. In this study, trientine and ascorbate, known to have a beneficial effect in an animal model of Wilson disease, were administered to transgenic mice overexpressing a mutated human SOD1 (G93A). The onset of neurological signs in the treated group was significantly delayed compared with that in the control group, and the time to reach total paralysis in the treated group was delayed as well. Since the agents used in this study cause low toxicity in animals and humans, this treatment may be a good candidate for clinical application.

  15. Copper Homeostasis as a Therapeutic Target in Amyotrophic Lateral Sclerosis with SOD1 Mutations

    PubMed Central

    Tokuda, Eiichi; Furukawa, Yoshiaki

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disease affecting both upper and lower motor neurons, and currently, there is no cure or effective treatment. Mutations in a gene encoding a ubiquitous antioxidant enzyme, Cu,Zn-superoxide dismutase (SOD1), have been first identified as a cause of familial forms of ALS. It is widely accepted that mutant SOD1 proteins cause the disease through a gain in toxicity but not through a loss of its physiological function. SOD1 is a major copper-binding protein and regulates copper homeostasis in the cell; therefore, a toxicity of mutant SOD1 could arise from the disruption of copper homeostasis. In this review, we will briefly review recent studies implying roles of copper homeostasis in the pathogenesis of SOD1-ALS and highlight the therapeutic interventions focusing on pharmacological as well as genetic regulations of copper homeostasis to modify the pathological process in SOD1-ALS. PMID:27136532

  16. Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins*

    PubMed Central

    Watanabe, Shoji; Kaneko, Kumi; Yamanaka, Koji

    2013-01-01

    Abnormal protein accumulation is a pathological hallmark of neurodegenerative diseases, including accumulation of TAR DNA-binding protein 43 (TDP-43) in amyotrophic lateral sclerosis (ALS). Dominant mutations in the TDP-43 gene are causative for familial ALS; however, the relationship between mutant protein biochemical phenotypes and disease course and their significance to disease pathomechanism are not known. Here, we found that longer half-lives of mutant proteins correlated with accelerated disease onset. Based on our findings, we established a cell model in which chronic stabilization of wild-type TDP-43 protein provoked cytotoxicity and recapitulated pathogenic protein cleavage and insolubility to the detergent Sarkosyl, TDP-43 properties that have been observed in sporadic ALS lesions. Furthermore, these cells showed proteasomal impairment and dysregulation of their own mRNA levels. These results suggest that chronically increased stability of mutant or wild-type TDP-43 proteins results in a gain of toxicity through abnormal proteostasis. PMID:23235148

  17. Golgi fragmentation in amyotrophic lateral sclerosis, an overview of possible triggers and consequences

    PubMed Central

    Sundaramoorthy, Vinod; Sultana, Jessica M.; Atkin, Julie D.

    2015-01-01

    Amyotrophic Lateral Sclerosis (ALS) is an invariably fatal neurodegenerative disorder, which specifically targets motor neurons in the brain, brain stem and spinal cord. Whilst the etiology of ALS remains unknown, fragmentation of the Golgi apparatus is detected in ALS patient motor neurons and in animal/cellular disease models. The Golgi is a highly dynamic organelle that acts as a dispatching station for the vesicular transport of secretory/transmembrane proteins. It also mediates autophagy and maintains endoplasmic reticulum (ER) and axonal homeostasis. Both the trigger for Golgi fragmentation and the functional consequences of a fragmented Golgi apparatus in ALS remain unclear. However, recent evidence has highlighted defects in vesicular trafficking as a pathogenic mechanism in ALS. This review summarizes the evidence describing Golgi fragmentation in ALS, with possible links to other disease processes including cellular trafficking, ER stress, defective autophagy, and axonal degeneration. PMID:26578862

  18. Maple Syrup Decreases TDP-43 Proteotoxicity in a Caenorhabditis elegans Model of Amyotrophic Lateral Sclerosis (ALS).

    PubMed

    Aaron, Catherine; Beaudry, Gabrielle; Parker, J Alex; Therrien, Martine

    2016-05-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing death of the motor neurons. Proteotoxicity caused by TDP-43 protein is an important aspect of ALS pathogenesis, with TDP-43 being the main constituent of the aggregates found in patients. We have previously tested the effect of different sugars on the proteotoxicity caused by the expression of mutant TDP-43 in Caenorhabditis elegans. Here we tested maple syrup, a natural compound containing many active molecules including sugars and phenols, for neuroprotective activity. Maple syrup decreased several age-dependent phenotypes caused by the expression of TDP-43(A315T) in C. elegans motor neurons and requires the FOXO transcription factor DAF-16 to be effective. PMID:27071850

  19. [Suspected amyotrophic lateral sclerosis? Don't forget diagnostic imaging of the spine].

    PubMed

    Opstelten, F W; Boon, A J

    2001-03-17

    Two patients, men aged 35 and 72 years, had progressive muscle weakness, lower motor neuron signs in all extremities and upper motor neuron signs in the legs. There were no major sensory signs on examination. The clinical picture very much resembled amyotrophic lateral sclerosis (ALS), although there were never brain stem signs. Myelopathy and polyradiculopathies caused by a tandem cervical and lumbar spinal stenosis explained the clinical picture. Cervical MRI and lumbar CT confirmed this diagnosis. Laminectomy was done, after which both patients remained with unchanged symptoms. Tandem spinal stenosis should be part of the differential diagnosis of ALS. Imaging of the spine is necessary to confirm this diagnosis, and in the absence of bulbar signs always necessary prior to the diagnosis of ALS.

  20. An electronic communication system for amyotrophic lateral sclerosis patients - biomed 2013.

    PubMed

    Murakami, Atsushi; Maki, Hiromichi; Ogawa, Hidekuni; Tsukamoto, Sosuke; Yonezawa, Yoshiharu; Hahn, Allen W; Caldwell, W Morton

    2013-01-01

    Amyotrophic lateral sclerosis is a progressive degeneration of motor neurons. Patients with the disease lose their ability to speak and to use their hands as the disease progresses. We have developed a new electronic communication system that enables communication by blinking of the eyes. The system consists of a light emitting diode (LED), two silicone rubber electrodes, an electrooculogram (EOG) recorder, a microcontroller, a sound reproduction board, a pillow speaker and a low power mobile phone. The two silicone rubber electrodes record the EOG induced by blinking the eyes synchronized with LED flashing. The EOG is amplified by the EOG recorder. The microcontroller detects the blinking from the amplified EOG, and then their meanings are confirmed by voice. After that, the patient’s intention is transmitted to the nurse by a low power mobile phone so the care giver is kept in the loop.