Sample records for neurological muscular bony

  1. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. (United States)

    Gloss, David; Moxley, Richard T; Ashwal, Stephen; Oskoui, Maryam


    To update the 2005 American Academy of Neurology (AAN) guideline on corticosteroid treatment of Duchenne muscular dystrophy (DMD). We systematically reviewed the literature from January 2004 to July 2014 using the AAN classification scheme for therapeutic articles and predicated recommendations on the strength of the evidence. Thirty-four studies met inclusion criteria. In children with DMD, prednisone should be offered for improving strength (Level B) and pulmonary function (Level B). Prednisone may be offered for improving timed motor function (Level C), reducing the need for scoliosis surgery (Level C), and delaying cardiomyopathy onset by 18 years of age (Level C). Deflazacort may be offered for improving strength and timed motor function and delaying age at loss of ambulation by 1.4-2.5 years (Level C). Deflazacort may be offered for improving pulmonary function, reducing the need for scoliosis surgery, delaying cardiomyopathy onset, and increasing survival at 5-15 years of follow-up (Level C for each). Deflazacort and prednisone may be equivalent in improving motor function (Level C). Prednisone may be associated with greater weight gain in the first years of treatment than deflazacort (Level C). Deflazacort may be associated with a greater risk of cataracts than prednisone (Level C). The preferred dosing regimen of prednisone is 0.75 mg/kg/d (Level B). Over 12 months, prednisone 10 mg/kg/weekend is equally effective (Level B), with no long-term data available. Prednisone 0.75 mg/kg/d is associated with significant risk of weight gain, hirsutism, and cushingoid appearance (Level B). © 2016 American Academy of Neurology.

  2. Neurologic manifestations of achondroplasia. (United States)

    Hecht, Jacqueline T; Bodensteiner, John B; Butler, Ian J


    Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20000-30000 live-born infants. Achondroplasia is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their families. Achondroplasia is caused, in virtually all of the cases, by a G380R mutation in fibroblast growth factor receptor 3 (FGFR3). Patients with achondroplasia should be evaluated by a multidisciplinary team of clinicians including geneticists, neurologists, and orthopedists, since there are numerous bony and neurological complications. The most severe complication results from craniocervical stenosis and medullary and upper spinal cord compression, which can have devastating and even lethal sequelae during early childhood. In subsequent decades, including adolescence, spinal cord and nerve compression are more prominent. The neurological complications of achondroplasia have been recognized in adults for more than a century and are attributed to bony defects, connective tissue structures, or both. Similar neurological complications are now appreciated in infants, young children, and teenagers with achondroplasia. Defective connective tissue elements in achondroplasia frequently lead to ligamentous laxity, which can aggravate the complications associated with bony stenosis. Bony abnormalities are known to cause neurological morbidity and lead to a shortened lifespan. Neurological complications associated with achondroplasia are reviewed, including recommendations for the evaluation and management of these clinical problems. © 2014 Elsevier B.V. All rights reserved.

  3. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. (United States)

    Kang, Peter B; Morrison, Leslie; Iannaccone, Susan T; Graham, Robert J; Bönnemann, Carsten G; Rutkowski, Anne; Hornyak, Joseph; Wang, Ching H; North, Kathryn; Oskoui, Maryam; Getchius, Thomas S D; Cox, Julie A; Hagen, Erin E; Gronseth, Gary; Griggs, Robert C


    To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature. Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care. The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications. Multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies. © 2015 American Academy of Neurology.

  4. Muscular Dystrophy (United States)

    ... Devices The Search for a Cure en español Distrofia muscular About MD Muscular dystrophy (MD) is a genetic ... muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most ...

  5. Phylogenetic classification of bony fishes. (United States)

    Betancur-R, Ricardo; Wiley, Edward O; Arratia, Gloria; Acero, Arturo; Bailly, Nicolas; Miya, Masaki; Lecointre, Guillaume; Ortí, Guillermo


    Fish classifications, as those of most other taxonomic groups, are being transformed drastically as new molecular phylogenies provide support for natural groups that were unanticipated by previous studies. A brief review of the main criteria used by ichthyologists to define their classifications during the last 50 years, however, reveals slow progress towards using an explicit phylogenetic framework. Instead, the trend has been to rely, in varying degrees, on deep-rooted anatomical concepts and authority, often mixing taxa with explicit phylogenetic support with arbitrary groupings. Two leading sources in ichthyology frequently used for fish classifications (JS Nelson's volumes of Fishes of the World and W. Eschmeyer's Catalog of Fishes) fail to adopt a global phylogenetic framework despite much recent progress made towards the resolution of the fish Tree of Life. The first explicit phylogenetic classification of bony fishes was published in 2013, based on a comprehensive molecular phylogeny ( ). We here update the first version of that classification by incorporating the most recent phylogenetic results. The updated classification presented here is based on phylogenies inferred using molecular and genomic data for nearly 2000 fishes. A total of 72 orders (and 79 suborders) are recognized in this version, compared with 66 orders in version 1. The phylogeny resolves placement of 410 families, or ~80% of the total of 514 families of bony fishes currently recognized. The ordinal status of 30 percomorph families included in this study, however, remains uncertain (incertae sedis in the series Carangaria, Ovalentaria, or Eupercaria). Comments to support taxonomic decisions and comparisons with conflicting taxonomic groups proposed by others are presented. We also highlight cases were morphological support exist for the groups being classified. This version of the phylogenetic classification of bony fishes is substantially improved, providing resolution

  6. Bony sequestrum: A radiologic review

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    Jennin, Felicie; Bousson, Valerie; Parlier, Caroline; Jomaah, Nabil; Khanine, Vanessa; Laredo, Jean-Denis [Lariboisiere Hospital, Department of Radiology, Paris (France)


    According to a pathological definition, a bony sequestrum is defined as a piece of devitalized bone that has been separated from the surrounding bone during the process of necrosis. However, the radiological definition of a sequestrum is different and refers to an image of calcification visible within a lucent lesion, completely separated from the surrounding bone, without referring to the vascular status and histological nature of the calcified tissue. The term ''button sequestrum'' has been used in calvarial lesions. The prototype conditions that may present with a bony sequestrum are osteomyelitis and skeletal tuberculosis. Other conditions such as radiation necrosis, eosinophilic granuloma, metastatic carcinoma, primary lymphoma of bone, aggressive fibrous tumors may also manifest as osteolytic lesions containing a sequestrum. In addition, some primary bone tumors produce a matrix that may mineralize and sometimes simulate a bone sequestrum. These include osteoid tumors (osteoid osteoma, osteoblastoma), cartilaginous tumors (chondroma and chondroblastoma), lipomatous tumors (lipoma), and benign fibrous tumors (fibromyxoma, myxoma, and desmoplastic fibroma). Therefore, various conditions may present at imaging as a small area of osteolysis containing central calcifications. However, a careful analysis of the sequestrum as well as the associated clinical and radiological findings often enables to point toward a limited number of conditions. (orig.)

  7. Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy (United States)

    ... myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... boxes. Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

  8. Bony ankylosis following thermal and electrical injury

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    Balen, P.F.; Helms, C.A. [Dept. of Radiology, Duke University Medical Center, Durham, NC (United States)


    Objective. Bony ankylosis has been described following trauma, paralysis, psoriasis, Reiter's syndrome, ankylosing spondylitis, juvenile chronic arthritis and rheumatoid arthritis. Reports of bony ankylosis following thermal and electrical injury are limited.Design and patients. Thirteen cases of burn-related joint ankylosis in four patients are presented.Conclusion. Patients with burns from thermal or electrical injury may develop bony ankylosis among other radiographic manifestations. This bony ankylosis may result either from bridging extra-articular heterotopic ossification with preservation of the underlying joint or from intra-articular fusion due to joint destruction. (orig.)

  9. Bony ankylosis of temporomandibular joint

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    Lee, Byeong Do; Yoon, Young Nam; Um, Ki Doo; Ra, Jong Ill; Lee, Wan [School of Dentistry, Wonkwang University, Iksan (Korea, Republic of)


    Ankylosis of joint is defined as limited movement due to infection, trauma, or surgical procedure. A 59-year-old female with a chief complaint of limited movements during mouth opening had a positive history of trauma to her right TMJ area about 5 years ago. From that time, progressive mouth opening limitation and intermittent pain have occurred. At the time of admission the patient showed mandibular deviation to the right side during mouth opening, with a maximum opening limited to 5 mm. On plain radiographs, right condylar enlargement and joint space reduction by newly formed bony tissues were observed. CT scans showed right condylar enlargement, cortical sclerosis, and thickening of the condyle, articular fossa and articular eminence.

  10. Muscular Dystrophy (United States)

    Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and ... ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent ...

  11. Post Pelvic Radiotherapy Bony Changes

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    Huh, Seung Jae [Samsung Medical Center, Seoul (Korea, Republic of)


    There has been recent interest in radiation-induced bone injury in clinical conditions, especially for pelvic insufficiency fracture (PIF). A PIF is caused by the effect of normal or physiological stress on bone with demineralization and decreased elastic resistance. Pelvic radiotherapy (RT) can also contribute to the development of a PIF. A PIF has been regarded as a rare complication with the use of megavoltage equipment. However, recent studies have reported the incidence of PIFs as 8.2{approx}20% after pelvic RT in gynecological patients, an incidence that was higher than previously believed. The importance of understanding a PIF lies in the potential for misdiagnosis as a bony metastasis. If patients complain of pelvic pain after whole-pelvis radiation therapy, the presence of a PIF must be considered in the differential diagnosis. The use of multibeam arrangements and conformal RT to reduce the volume and dose of irradiated pelvic bone can be helpful to minimize the risk of fracture. In addition to a PIF, osteonecrosis and avascular necrosis of the femoral head can develop after radiation therapy. Osteoradionecrosis of the pelvic bone is a clinical diagnostic challenge that must be differentiated from an osseous metastasis. A post-radiation bone sarcoma can result as a long-term sequela of pelvic irradiation for uterine cervical cancer.

  12. Bony spurs projecting in the obturator foramen. (United States)

    Singh, R


    The obturator foramen is large oval aperture in males or irregularly triangular aperture in females in the hipbone, situated anteroinferior to the acetabulum between the pubis and ischium. The dry bone under study is a male left sided hipbone. It contains the obturator groove through which the obturator nerve and vessels pass. During analysis of hipbones in the osteology laboratory of CSM Medical University Lucknow, UP, India, a hipbone was found in which bony spurs or exostoses were projecting from the margins into the obturator foramen. These bony projections in the obturator foramen constitute a new anatomical variant in the hipbone, as they have not been reported before. These bony spurs may impinge on the obturator nerve and vessels causing neurovascular complications and also trauma to the soft tissues during biomechanical movements. In addition, these bony spurs may cause spasms of the obturator internus and externus muscles, causing groin pain. These bony projections may also lead to misinterpretation of radiographs. Thus, knowledge of these bony spurs is of paramount importance to anatomists, surgeons, sport physicians, and radiologists.

  13. Muscular Dystrophy (United States)

    ... Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy . Muscle Nerve. Jul 2006;34(1):1-15. Congenital ( ... affected? Throat References: 1. Emery AEH. The muscular ... V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of ...

  14. Muscular Dystrophy (United States)

    ... Inheritance patterns Muscular dystrophy Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  15. Cardiomyopathy in neurological disorders. (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim


    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  16. Is high T-1 slope a significant risk factor for developing interlaminar bony fusion after cervical laminoplasty? A retrospective cohort study. (United States)

    Oichi, Takeshi; Oshima, Yasushi; Oka, Hiroyuki; Taniguchi, Yuki; Chikuda, Hirotaka; Matsubayashi, Yoshitaka; Takeshita, Katsushi; Tanaka, Sakae


    in flexion, and had a significantly lower preoperative cervical ROM than those in the nonfusion group. A high T-1 slope was significantly more frequent in the fusion group. Multivariate analysis revealed that the significant risk factors for postoperative interlaminar bony fusion were high T-1 slope (odds ratio 4.81; p = 0.0015) and older age (odds ratio 1.05; p = 0.025). The Japanese Orthopaedic Association recovery rate in patients with interlaminar bony fusion did not differ significantly from those without bony fusion (45% vs 48%; p = 0.73). However, patients with bony fusion showed significantly reduced postoperative cervical ROM compared with those without bony fusion (50% vs 25%; p slope and older age were significant risk factors for developing interlaminar bony fusion after cervical laminoplasty in patients with CSM. Interlaminar bony fusion was associated with reduced postoperative cervical ROM, but it did not affect neurological outcomes.

  17. Multiple myeloma presenting with acute bony spinal cord compression and mechanical instability successfully managed nonoperatively. (United States)

    Gokaraju, Kishan; Butler, Joseph S; Benton, Adam; Suarez-Huerta, Maria L; Selvadurai, Susanne; Molloy, Sean


    Multiple myeloma (MM) with spinal involvement may present with spinal cord or cauda equina compression, with or without neurological impairment. This occurs when a soft-tissue myelomatous mass extends into the epidural space (Barron et al., 1959 [1]). The mainstay of management for such lesions in patients with normal neurology is chemotherapy and radiotherapy or radiotherapy alone, but those with neurological compromise require surgical decompression with adjuvant therapy (Patchell et al., 2005 [2]). Infrequently, patients with MM present with spinal cord compression and neurological impairment due to bony encroachment from vertebral translation and kyphosis where significant lytic bone disease has rendered the spine mechanically unstable. The standard management for these patients is surgical decompression and internal fixation. This study aimed to report a high-risk myeloma patient with a mechanically unstable spine, acute spinal cord compression, and neurologic deficit that was treated successfully using nonoperative means. Case report. A 37-year-old male patient with MM was referred to our tertiary referral spinal unit with acute bony spinal cord compression and neurological impairment. Computer tomography revealed lytic lesions of T2 and T3 and anterolisthesis of T1 on T2 producing mechanical instability and magnetic resonance imaging confirmed extension of disease into the epidural space and cord compression. This was successfully managed with nonoperative treatment using a brace. Management in a brace restored clinical and radiological stability and normal neurological function. Certain high-risk myeloma patients with a mechanically unstable spine, acute spinal cord compression and neurologic deficit can be treated effectively in an appropriate brace when managed by a tertiary referral spinal unit. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Bony abnormalities in classic bladder exstrophy: the urologist's perspective. (United States)

    Suson, Kristina D; Sponseller, Paul D; Gearhart, John P


    As the primary practitioner managing patients with classic bladder exstrophy (CBE), it is incumbent upon the pediatric urologist to understand the associated orthopedic anomalies and their management. A Pubmed search was performed with the keyword exstrophy. Resulting literature pertaining to orthopedics and published references were reviewed. Anatomic changes to the bony pelvis include outward rotation, acetabular retroversion with compensatory femoral anteversion, anterior pubic shortening, and pubic diastasis. Imaging options have improved, which impacts surgical planning. Surgical approach, including type of osteotomy and method of pubic approximation, is evolving. Most centers employ immobilization after surgery, with external fixation, Bryant's traction, Buck's traction, and spica casting being the most common methods. Orthopedic complications range from minor pin-site infections to neurologic and vascular compromise. Most experts agree osteotomy aids bladder closure beyond 72 h of life, but effect on continence remains controversial. Although no significant orthopedic benefit has been expounded, it may be too early to appreciate improvement in frequency or severity of osteoarthritis or hip dysplasia. While orthopedic surgeons remain vital to managing exstrophy patients, knowledge of the anatomy, imaging, surgical approaches, and immobilization enable effective communication with parents and other physicians, improving care for these complicated patients. Copyright © 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  19. Brain MRI in Congenital Muscular Dystrophies


    J Gordon Millichap


    Magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) complicated by cerebral anomalies were analysed from data collected at several Departments of Child Neurology, The Netherlands: Free University Hospital, and Emma Children’s Hospital, Amsterdam; Sophia Children’s Hospital, Rotterdam; Leiden University Hospital; Groningen University Hospital; and St Radboud University Hospital, Nijmegen.


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    Alejandro Gómez

    Full Text Available Los cables musculares o fibras de nitinol presentan una excelente alternativa a los actuadores convencionales, con una fuerza de actuación muy alta, equivalente a la de los actuadores hidráulicos, proporcionalmente a su peso, además de su acción silenciosa. Este material, inventado en 1963, aún no es muy conocido y de ahí que se haya realizado una recopilación de sus propiedades. Entre ellas, la temperatura de transición es la más importante, por ser la que activa la aleación. Muchos sistemas se han creado para alcanzar adecuadamente la temperatura de transición, y también se continúa en la investigación de métodos que ayuden a lograr un control preciso del movimiento de la aleación con memoria de forma (SMA.

  1. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. (United States)

    Tawil, Rabi; Kissel, John T; Heatwole, Chad; Pandya, Shree; Gronseth, Gary; Benatar, Michael


    To develop recommendations for the evaluation, diagnosis, prognostication, and treatment of facioscapulohumeral muscular dystrophy (FSHD) from a systematic review and analysis of the evidence. Relevant articles were analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and treatment studies. Recommendations were linked to the strength of the evidence and other factors. Available genetic testing for FSHD type 1 is highly sensitive and specific. Although respiratory insufficiency occurs rarely in FSHD, patients with severe FSHD should have routine pulmonary function testing. Routine cardiac screening is not necessary in patients with FSHD without cardiac symptoms. Symptomatic retinal vascular disease is very rare in FSHD. Exudative retinopathy, however, is potentially preventable, and patients with large deletions should be screened through dilated indirect ophthalmoscopy. The prevalence of clinically relevant hearing loss is not clear. In clinical practice, patients with childhood-onset FSHD may have significant hearing loss. Because undetected hearing loss may impair language development, screening through audiometry is recommended for such patients. Musculoskeletal pain is common in FSHD and treating physicians should routinely inquire about pain. There is at present no effective pharmacologic intervention in FSHD. Available studies suggest that scapular fixation is safe and effective. Surgical scapular fixation might be cautiously offered to selected patients. Aerobic exercise in FSHD appears to be safe and potentially beneficial. On the basis of the evidence, patients with FSHD might be encouraged to engage in low-intensity aerobic exercises. © 2015 American Academy of Neurology.

  2. Expanding the neurological examination using functional neurologic assessment: part II neurologic basis of applied kinesiology. (United States)

    Schmitt, W H; Yanuck, S F


    Functional Neurologic Assessment and treatment methods common to the practice of applied kinesiology are presented. These methods are proposed to enhance neurological examination and treatment procedures toward more effective assessment and care of functional impairment. A neurologic model for these procedures is proposed. Manual assessment of muscular function is used to identify changes associated with facilitation and inhibition, in response to the introduction of sensory receptor-based stimuli. Muscle testing responses to sensory stimulation of known value are compared with usually predictable patterns based on known neuroanatomy and neurophysiology, guiding the clinician to an understanding of the functional status of the patient's nervous system. These assessment procedures are used in addition to other standard diagnostic measures to augment rather than replace the existing diagnostic armamentarium. The proper understanding of the neurophysiologic basis of muscle testing procedures will assist in the design of further investigations into applied kinesiology. Accordingly, the neurophysiologic basis and proposed mechanisms of these methods are reviewed.

  3. Adult neurology training during child neurology residency. (United States)

    Schor, Nina F


    As it is currently configured, completion of child neurology residency requires performance of 12 months of training in adult neurology. Exploration of whether or not this duration of training in adult neurology is appropriate for what child neurology is today must take into account the initial reasons for this requirement and the goals of adult neurology training during child neurology residency.

  4. Duchenne muscular dystrophy (United States)

    ... this page: // Duchenne muscular dystrophy To use the sharing features on this page, please enable JavaScript. Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness , ...

  5. Blunt chest trauma: bony injury in the thorax. (United States)

    Zreik, Nasri H; Francis, Irene; Ray, Arun; Rogers, Benedict A; Ricketts, David M


    The management of blunt chest trauma is an evolving concept with no clear current guidelines. This article explores the bony injuries associated with this, focusing on rib fractures and flail segments and the themes around investigation and best management.

  6. Congenital bony fusion (absence) of the knee: a case report. (United States)

    Madadi, F; Kahlaee, A H; Sarmadi, A; Madadi, Fi; Sadeghian, R; Emami, T M M; Abbasian, M R


    Congenital knee ankylosis is a rare condition which might be accompanied with other abnormalities or not. To our knowledge, there is no report on true bony ankylosis of the knee. The only ones in the literature include fibrous knee ankylosis. Thus this seems to be the first presentation of true congenital bony fusion of the knee joint. Copyright © 2009 Elsevier B.V. All rights reserved.

  7. Meaning of Muscular Dystrophy (United States)

    ... MD Living With MD en español Qué significa distrofia muscular What Is Muscular Dystrophy? Muscular dystrophy (say: MUS- ... blood test if a kid has Becker or Duchenne MD. Or the doctor might take a small piece of the muscle and look at it under a microscope to ...

  8. Comparison of bony dimensions at the level of the pelvic floor in women with and without pelvic organ prolapse (United States)

    Stein, Tamara A.; Kaur, Gurpreet; Summers, Aimee; Larson, Kindra A.; Delancey, John O. L.


    Objective Compare bony pelvis dimensions at the level of pelvic support in women with and without pelvic organ prolapse (POP). Study Design Pelvic floor dimensions of 42 Caucasian women with POP ≥ 1cm beyond the hymen were compared to 42 age and parity-matched women with normal support. Bony landmarks relevant to connective tissue and levator attachments were identified on MRI. Dimensions were independently measured by two examiners and averaged for each subject. Results Measurements (cms) for cases and controls are as follows: Interspinous Diameter, 11.2±0.8 vs. 11.1±0.7, p=0.19; Anterior-Posterior Outlet Diameter, 11.7±0.7 vs. 11.7±0.8, p=0.71; Pubic Symphysis to Ischial Spine - Left, 9.5±0.5 vs. 9.5±0.4, p=0.91; -Right, 9.5±0.4 vs. 9.5±0.5, p=0.81; Sacrococcygeal junction to Ischial Spine - Left, 7.0±0.6 vs. 7.0±0.5, p=0.54; - Right, 7.0±0.6 vs. 6.9±0.4, p=0.32. Conclusion Bony pelvis dimensions are similar at the level of the muscular pelvic floor in Caucasian women with and without POP. PMID:19254580

  9. Bony lesions in pediatric acute leukemia: pictorial essay. (United States)

    Shahnazi, Makhtoom; Khatami, Alireza; Shamsian, Bibishahin; Haerizadeh, Bibimaryam; Mehrafarin, Mastooreh


    Acute leukemia is the most common malignancy in childhood, which mainly involves children less than 15 years of age. The growing skeleton is the main site of involvement in children. Leukemic cells proliferate within the massive red bone marrow in children. So besides the pallor, petechia, purpura and ecchymosis in the skin and mucosal surfaces, bone pain and other bony lesions are other manifestations of leukemia.On the other hand, bony lesions are more prevalent in children than adults with no poor prognosis in comparison to patients without bone lesions. These bony lesions may precede other laboratory tests so familiarity with these presentations is very important for earlier diagnosis.In this pictorial essay, we tried to gather the most common bony lesions that may be seen in acute leukemia in different cases admitted to our hospital with general malaise and localized tenderness and discomfort leading us to perform plain X-ray for further evaluation. Finding these bony lesions helps clinicians to reach the diagnosis quickly. These findings include metaphyseal lucent band and erosion, periosteal reaction, small lucent bone lesion and permeative appearance, reduced bone density and collapsed vertebra.

  10. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

    NARCIS (Netherlands)

    van der Kooi, A. J.; Ledderhof, T. M.; de Voogt, W. G.; Res, C. J.; Bouwsma, G.; Troost, D.; Busch, H. F.; Becker, A. E.; de Visser, M.


    Sixty-five members of three families with limb girdle muscular dystrophy (LGMD) underwent neurological, cardiological, and ancillary investigations. Thirty-five individuals were diagnosed as having slowly progressive autosomal dominant LGMD. Symmetrical weakness started in the proximal lower limb

  11. Atrofia muscular proximal familiar

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    José Antonio Levy


    Full Text Available Os autores relatam dois casos de atrofia muscular proximal familiar, moléstia caracterizada por déficit motor e atrofias musculares de distribuição proximal, secundárias a lesão de neurônios periféricos. Assim, como em outros casos descritos na literatura, foi feito inicialmente o diagnóstico de distrofia muscular progressiva. O diagnóstico correto foi conseguido com auxílio da eletromiografia e da biopsia muscular.

  12. 'Bony' cubital tunnel syndrome caused by heterotopic ossification. (United States)

    Wu, Yuxuan; Liu, Meng; Qu, Wei


    We reported a rare case of cubital tunnel syndrome caused by heterotopic ossification after burns. The ulnar nerve was encircled by bony tunnel structure which cause nerve compression, resulting in ulnar nerve lesion. Our case sheds light on possible etiological association which may help clinical management.

  13. Arthroscopic treatment of bony loose bodies in the subacromial space

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    Wei Li


    Conclusion: The mechanism of formation of bony loose bodies is not clear, may be associated with synovial cartilage metaplasia. Arthroscopic removal of loose bodies and bursa debridement is a good option for treatment of the loose body in the subacromial space, which can receive good function.

  14. First Trimester Abortion: A Rare Cause of Intrauterine Bony Spicules

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    Anshuja Singla


    Full Text Available Bony fragments in the uterus occur after second trimester termination of pregnancy following retained fetal bones. Very rarely, they can form following first trimester loss. Clinical symptoms range from pain, menstrual symptoms, and infertility. Ultrasound shows a hyperechoic shadow, and treatment is by curettage or hysteroscopic removal.

  15. bony injuries in trauma patients diagnosed by radiological ...

    African Journals Online (AJOL)


    Jun 1, 2015 ... SUMMARY. Objective: This study was carried out to determine the incidence of bony injuries in trauma patients who had plain radiographs done at the Central Regional Hospital in Cape Coast. Design: This is a retrospective study based on plain radiographs taken by trauma patients who reported to.

  16. Facioscapulohumeral muscular dystrophy (United States)

    ... on this page, please enable JavaScript. Facioscapulohumeral muscular dystrophy is muscle weakness and loss of muscle tissue that gets ... to have children. Alternative Names Landouzy-Dejerine muscular dystrophy Images ... Superficial anterior muscles References Preston DC, Shapiro BE. Proximal, distal, and ...

  17. Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy (United States)

    Neel, Amy T.; Palmer, Phyllis M.; Sprouls, Gwyneth; Morrison, Leslie


    Purpose: We documented speech and voice characteristics associated with oculopharyngeal muscular dystrophy (OPMD). Although it is a rare disease, OPMD offers the opportunity to study the impact of myopathic weakness on speech production in the absence of neurologic deficits in a relatively homogeneous group of speakers. Methods: Twelve individuals…

  18. Primary bony non-Hodgkin lymphoma of the cervical spine: a case report

    Directory of Open Access Journals (Sweden)

    Sedrak Mark F


    Full Text Available Abstract Introduction Non-Hodgkin lymphoma primarily originating from the bone is exceedingly rare. To our knowledge, this is the first report of primary bone lymphoma presenting with progressive cord compression from an origin in the cervical spine. Herein, we discuss the unusual location in this case, the presenting symptoms, and the management of this disease. Case presentation We report on a 23-year-old Caucasian-American man who presented with two months of night sweats, fatigue, parasthesias, and progressive weakness that had progressed to near quadriplegia. Magnetic resonance (MR imaging demonstrated significant cord compression seen primarily at C7. Surgical management, with corpectomy and dorsal segmental fusion, in combination with adjuvant chemotherapy and radiation therapy, halted the progression of the primary disease and preserved neurological function. Histological analysis demonstrated an aggressive anaplastic large cell lymphoma. Conclusion Isolated primary bony lymphoma of the spine is exceedingly rare. As in our case, the initial symptoms may be the result of progressive cervical cord compression. Anterior corpectomy with posterolateral decompression and fusion succeeded in preventing progressive neurologic decline and maintaining quality of life. The reader should be aware of the unique presentation of this disease and that surgical management is a successful treatment strategy.

  19. How Physicians Support Mothers of Children with Duchenne Muscular Dystrophy. (United States)

    Fujino, Haruo; Saito, Toshio; Matsumura, Tsuyoshi; Shibata, Saki; Iwata, Yuko; Fujimura, Harutoshi; Shinno, Susumu; Imura, Osamu


    Communicating about Duchenne muscular dystrophy and its prognosis can be difficult for affected children and their family. We focused on how physicians provide support to the mothers of children with Duchenne muscular dystrophy who have difficulty communicating about the condition with their child. The eligible participants were certified child neurologists of the Japanese Society of Child Neurology. Participants responded to questionnaires consisting of free descriptions of a vignette of a child with Duchenne muscular dystrophy and a mother. We analyzed 263 responses of the participants. We found 4 themes on advising mothers, involving encouraging communication, family autonomy, supporting family, and considering the child's concerns. These results provide a better understanding of the communication between physicians and family members who need help sharing information with a child with Duchenne muscular dystrophy. These findings will assist clinical practitioners in supporting families and the affected children throughout the course of their illness. © The Author(s) 2015.

  20. Spinal muscular atrophy

    Directory of Open Access Journals (Sweden)

    D'Amico Adele


    Full Text Available Abstract Spinal muscular atrophy (SMA is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1 in 10,000 live births and carrier frequency of 1/40-1/60. This disease is characterized by generalized muscle weakness and atrophy predominating in proximal limb muscles, and phenotype is classified into four grades of severity (SMA I, SMAII, SMAIII, SMA IV based on age of onset and motor function achieved. This disease is caused by homozygous mutations of the survival motor neuron 1 (SMN1 gene, and the diagnostic test demonstrates in most patients the homozygous deletion of the SMN1 gene, generally showing the absence of SMN1 exon 7. The test achieves up to 95% sensitivity and nearly 100% specificity. Differential diagnosis should be considered with other neuromuscular disorders which are not associated with increased CK manifesting as infantile hypotonia or as limb girdle weakness starting later in life. Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning. Individuals at risk should be tested first and, in case of testing positive, the partner should be then analyzed. It is recommended that in case of a request on carrier testing on siblings of an affected SMA infant, a detailed neurological examination should be done and consideration given doing the direct test to exclude SMA. Prenatal diagnosis should be offered to couples who have previously had a child affected with SMA (recurrence risk 25%. The role of follow-up coordination has to be managed by an expert in neuromuscular disorders and in SMA who is able to plan a multidisciplinary intervention that includes pulmonary, gastroenterology/nutrition, and orthopedic care. Prognosis

  1. Three-dimensional shape differences in the bony pelvis of women with pelvic floor disorders. (United States)

    Brown, Kirsten M; Handa, Victoria L; Macura, Katarzyna J; DeLeon, Valerie B


    The objective of this study was to determine whether the three-dimensional shape of the bony pelvis differs between women with and without pelvic floor disorders (PFDs). We predict that the levator ani attachment points for the pelvic floor are further displaced from one another in affected relative to unaffected women. Pelvic shape was quantified by collecting coordinate data from landmarks located on three-dimensional reconstructions of magnetic resonance images of 19 PFD cases and 16 matched controls. Euclidean distance matrix analysis (EDMA) was used to quantify and compare pelvic shape using these landmark data. There were no significant group differences in age, parity, body mass, racial attribution, cesarean section, or hysterectomy status. After controlling for size as a confounding factor, EDMA results identified significant differences (p = 0.05) in the bispinous diameter (4 % proportionally larger) and distances defining lateral displacement of ischia from pubis (5-6 % proportionally larger) in cases compared to controls. Pelvic shape in women with PFDs is characterized by the proportional mediolateral enlargement of the pelvic midplane and ischial eversion near the subpubic arch, consistent with inferolateral migration of the attachment points for the levator ani and correspondingly lateral displacement. These movements may result in increased strain on the pelvic floor's muscular and connective tissues, increasing the risk of failure over a woman's lifetime.

  2. Limb Girdle Muscular Dystrophy (LGMD): Case Report. (United States)

    Kanitkar, Shubhangi A; Kalyan, Meenakshi; Gaikwad, Anu N; Makadia, Ankit; Shah, Harshad


    We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs. Neurological examination revealed atrophy of both shoulders with wasting of both deltoids thinning of thighs and pseudo hypertrophy of both calves, hypotonia in all four limbs. Gower's sign was positive. Winging of scapula was present. Power was 3/5 at both shoulders, 4/5 at both elbows, 5/5 at both wrists, 3/5 at both hip joints, 3/5 at both knees, 5/5 at both ankles. All deep tendon reflexes and superficial reflexes were present with plantars bilateral flexors. Electromyography (EMG) showed myopathic pattern. He had elevated creatinine phosphokinase levels and muscle biopsy findings consistent with muscular dystrophy.

  3. Percutaneous embolization of bony pelvic neoplasms with tissue adhesive

    Energy Technology Data Exchange (ETDEWEB)

    Keller, F.S.; Rosch, J.; Bird, C.B.


    Eight patients with tumors of the bony pelvis underwent embolization with isobutyl-2-cyanoacrylate (IBCA). Five patients had primary bone tumors, of which 2 were malignant and 3 were benign; 3 patients had metastases to the bony pelvis from the thyroid gland, kidney, and femur, respectively. Embolization was performed to minimize blood loss during resection of a giant-cell tumor in one patient and insertion of a hip prosthesis in another who had metastatic renal carcinoma. It was also done prior to scheduled surgery in one of the patients with aneurysmal bone cyst, but healing was sufficient to cancel the operation; in the other patient, embolization was the only therapy. Palliative embolization was performed in 4 patients with malignant tumors after other means failed to control pain or slow progression. IBCA appears to be an efficient means of occluding the vessels feeding selected primary bone tumors and metastases.

  4. Imaging of the hip and bony pelvis. Techniques and applications

    Energy Technology Data Exchange (ETDEWEB)

    Davies, A.M. [Royal Orthopaedic Hospital, Birmingham (United Kingdom). MRI Centre; Johnson, K.J. [Princess of Wales Birmingham Children' s Hospital (United Kingdom); Whitehouse, R.W. (eds.) [Manchester Royal Infirmary (United Kingdom). Dept. of Clinical Radiology


    This is a comprehensive textbook on imaging of the bony pelvis and hip joint that provides a detailed description of the techniques and imaging findings relevant to this complex anatomical region. In the first part of the book, the various techniques and procedures employed for imaging the pelvis and hip are discussed in detail. The second part of the book documents the application of these techniques to the diverse clinical problems and diseases encountered. Among the many topics addressed are congenital and developmental disorders including developmental dysplasia of the hip, irritable hip and septic arthritis, Perthes' disease and avascular necrosis, slipped upper femoral epiphysis, bony and soft tissue trauma, arthritis, tumours and hip prostheses. Each chapter is written by an acknowledged expert in the field, and a wealth of illustrative material is included. This book will be of great value to musculoskeletal and general radiologists, orthopaedic surgeons and rheumatologists. (orig.)

  5. [Ultrastructure of granulocytes of bony fishes (orders Salmoniformes, Cypriniformes, Perciformes)]. (United States)

    Flerova, E A; Balabanova, L V


    Analysis of data on utrastructure of granulocytes of freshwater and marine bony fish of orders Salmoniformes, Cypriniformes, and Perciformes showed that in all studied species there were revealed two types of granulocytes - neutrophils and eosinophils. The exception was the bluefish Pomatomus saltatrix L. whose pronephros hemopoietic tissue was found to contain one type of the granulocytic line - neutrophils. The identification parameters of granular leukocytes are specific granules filling the cytoplasm. The main form of specific granules in neutrophils of bony fish of various phylogenetic groups is an elongated granule with different distribution of fibrils or a granule that has crystalloid formed from fibrils. The main form of eosinophil granules - large, electron-dense, homogenous.

  6. Advocacy in neurology

    National Research Council Canada - National Science Library

    Pauranik, Apoorva


    ...), launched the Neurological Alliance of Ireland, a nationwide coalition of patient advocacy groups and physicians and authored Standards of Care, the "blueprint" for the development of neurological...

  7. Boni mores and consent for child research in South Africa

    African Journals Online (AJOL)


    May 22, 2015 ... Boni mores and consent for child research in South Africa. A E Strode,1 BA LLB, LLM, PhD; J Toohey,2 LLB; P Singh,1 BCom, LLB, LLM; C M Slack,2 BA Hons, MA, PhD. 1 School of Law, University of KwaZulu-Natal, Pietermaritzburg, South Africa. 2 HIV/AIDS Vaccines Ethics Group, School of Applied ...

  8. Spinal Muscular Atrophy (SMA) (United States)

    ... encouraging progress. The Muscular Dystrophy Association is the leading sponsor of SMA research. The Association also provides a full program of services for individuals and families coping with SMA, and up-to-date informa- tion ...

  9. Arthroscopic treatment of bony loose bodies in the subacromial space. (United States)

    Li, Wei; Xiao, De-Ming; Jiang, Chang-Qing; Zhang, Wen-Tao; Lei, Ming


    Multiple bony loose bodies in the subacromial space caused form cartilage or bone cells and continue to grow. A 58-year-old man with two-year history of swelling and pain of the right shoulder. He had no history of tuberculosis and rheumatoid arthritis. Magnetic resonance (MR) images showed some bony loose bodies in the subacromial space. The removal of loose bodies and bursa debridement were performed arthroscopically. Histological diagnosis of them was synovitis with fibrous bodies. Extra-articular loose bodies is extremely rare, especially in the subacromial space, which maybe originated in the proliferative synovial bursa. Most authors recommend open removal to relive the pain, but there were choice to apply arthroscopy to remove them. The mechanism of formation of bony loose bodies is not clear, may be associated with synovial cartilage metaplasia. Arthroscopic removal of loose bodies and bursa debridement is a good option for treatment of the loose body in the subacromial space, which can receive good function. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  10. Between Organism and Sky: Oscar Bony, 1965-1976

    Directory of Open Access Journals (Sweden)

    Daniel Quiles


    Full Text Available Oscar Bony was a key figure in the generation of avant-garde artists who famously broke with the Instituto Torcuato Di Tella in the wake of censorship at Experiencias ’68. He was also the official photographer for RCA’s affiliate record label in Argentina between 1967 and 1973, producing publicity for a new wave of rock n’ roll bands and solo popular music acts including Los Gatos and Arco Iris. Attending to key phases in his artistic oeuvre as well as close readings of his expertly crafted popular images, this article attempts to bridge these seemingly irreconcilable aspects of Bony’s practice. At first glance, his rock photography, known as el estilo Bony, has little relation to his art, and is perhaps even its political antithesis: “creative” work in the service of a top-down business model. Yet a closer look at both endeavors yields a lasting interplay between flesh and concept—at the grain of the work, a dialectic between incontrovertible index and crafted, calculated image—that was the artist’s central preoccupation in the fraught decade between the military coups. As such, Bony provides an opportunity to recover a category often absent from the Argentine art of this moment: the body, factual and libidinal.

  11. CT study on bony interface after Le Fort I osteotomy; Examination of bony interface in maxillary advancement and impaction

    Energy Technology Data Exchange (ETDEWEB)

    Goto, Satoshi; Kawamura, Hiroshi; Motegi, Katsutoshi (Tohoku Univ., Sendai (Japan). School of Dentistry)


    Bony contact after the maxilla had been mobilized by Le Fort I osteotomy was evaluated by computed tomographic examination of 52 Japanese dry skulls. The lateral piriform wall and the base of the zygomatic process of the maxilla which consist of thick bone are important areas to achieve good stability. Some cases of maxillary advancement and/or impaction lacked an osseous interface at the posterior wall. Preoperative CT along the osteotomy-line is recommended to achieve better postoperative stability. (author).

  12. Arthroscopic Bony Bankart Repair Using Double-Threaded Headless Screw: A Case Report

    Directory of Open Access Journals (Sweden)

    Takeshi Kokubu


    Full Text Available We present a case of arthroscopic fixation for bony Bankart lesion using a double-threaded cannulated screw. A 39-year-old man sustained a left shoulder injury from a motorcycle accident. Radiographs showed bony Bankart lesion and CT revealed 40% defect of glenoid articular surface. Arthroscopic fixation was performed using double-threaded cannulated screw after the bony fragment was reduced by suturing the labrum at the edge with a suture anchor. Arthroscopic bony Bankart repair using double-threaded cannulated screw fixation is effective because compression force could be applied between bony fragments and the screw head is not exposed in the glenohumeral joint.

  13. Sports neurology topics in neurologic practice (United States)

    Conidi, Francis X.; Drogan, Oksana; Giza, Christopher C.; Kutcher, Jeffery S.; Alessi, Anthony G.; Crutchfield, Kevin E.


    Summary We sought to assess neurologists' interest in sports neurology and learn about their experience in treating sports-related neurologic conditions. A survey was sent to a random sample of American Academy of Neurology members. A majority of members (77%) see at least some patients with sports-related neurologic issues. Concussion is the most common sports-related condition neurologists treat. More than half of survey participants (63%) did not receive any formal or informal training in sports neurology. At least two-thirds of respondents think it is very important to address the following issues: developing evidence-based return-to-play guidelines, identifying risk factors for long-term cognitive-behavioral sequelae, and developing objective diagnostic criteria for concussion. Our findings provide an up-to-date view of the subspecialty of sports neurology and identify areas for future research. PMID:24790800

  14. Dismorfia muscular Muscle dysmorphia

    Directory of Open Access Journals (Sweden)

    Sheila Seleri Marques Assunção


    Full Text Available Preocupações mórbidas com a imagem corporal eram tidas até recentemente como problemas eminentemente femininos. Atualmente estas preocupações também têm sido encontradas no sexo masculino. A dismorfia muscular é um subtipo do transtorno dismórfico corporal que ocorre principalmente em homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Além de estar associada a prejuízos sociais, ocupacionais, recreativos e em outras áreas do funcionamento do indivíduo, a dismorfia muscular é também um fator de risco para o abuso de esteróides anabolizantes. Este artigo aborda aspectos epidemiológicos, etiológicos e padrões clínicos da dismorfia muscular, além de tecer comentários sobre estratégias de tratamento para este transtorno.Morbid concern over body image was considered, until recently, a female issue. Nowadays, it has been viewed as a common male disorder. Muscle dysmorphia, a subtype of a body dysmorphic disorder, affects men who, despite having clear muscular hypertroph,y see themselves as frail and small. Besides being associated to major social, leisure and occupational dysfunction, muscle dysmorphia is also a risk factor for the abuse of steroids. This article describes epidemiological, etiological and clinical characteristics of muscle dysmorphia and comments on its treatment strategy.

  15. Evaluation of Limb-Girdle Muscular Dystrophy (United States)


    Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency); Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency); Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

  16. Impact of Bony Stress Injuries on Professional Basketball Performance (United States)

    Khan, Moin; Madden, Kim; Rogowski, Joseph P.; Stotts, Jeff; Burrus, Matthew Tyrrell; Samani, Marisa; Sikka, Robby Singh; Bedi, Asheesh


    Objectives: Players in the National Basketball Association (NBA) subject their lower extremities to significant repetitive loading during the season as well as during off-season training. Little is known about the incidence and impact of lower extremity bony stress injuries in these athletes. Methods: Using the player injury database maintained by the NBA Players’ Association, all bony stress injuries from 1992 to May 2016 were identified. Those not involving the lower extremity were excluded from the study. Stress fractures and stress reactions were grouped together. Number of games missed due to the injury as well as player statistics including points per game (ppg), assists per game (apg), steals per game (spg), and blocks per game (bpg) were collected from two years prior to the injury to two years after the injury. Results: 76 lower extremity bony stress injuries were identified involving 75 different NBA players with an average player age of 25.4 ± 4.1 years. 55.3% (42/76) involved the foot, 21.1% (16/76) involved the ankle or fibula, 17.1% (13/76) involved the tibia, and 6.6% (5/76) involved either the knee or patella. The majority of injuries occurred in season 82.9% (63/76) with half of the injuries occurring within the first 6 weeks of the season. 38.2% (29/76) of these injuries were managed surgically. An average of 25.1 ± 21.3 games were missed. 19.7% (15/76) of patients who sustained a stress fracture also had a subsequent injury. 29.2% (21/76) of players were not able to return to professional basketball after the season in which the injury was sustained; however, those who were able to return to the same level of play did not see a significant change in performance as measured by ppg, apg, spg, or bpg when comparing the season prior to the injury and either one or two years after the injury. Stress injuries to the foot carried the worst prognosis, 57.1% (12/21) of those unable to return to professional basketball sustained such an injury

  17. Neurology and neurologic practice in China. (United States)

    Shi, Fu-Dong; Jia, Jian-Ping


    In the wake of dramatic economic success during the past 2 decades, the specialized field of neurology has undergone a significant transformation in China. With an increase in life expectancy, the problems of aging and cognition have grown. Lifestyle alterations have been associated with an epidemiologic transition both in the incidence and etiology of stroke. These changes, together with an array of social issues and institution of health care reform, are creating challenges for practicing neurologists throughout China. Notable problems include overcrowded, decrepit facilities, overloaded physician schedules, deteriorating physician-patient relationships, and an insufficient infrastructure to accommodate patients who need specialized neurologic care. Conversely, with the creation of large and sophisticated neurology centers in many cities across the country, tremendous opportunities exist. Developments in neurologic subspecialties enable delivery of high-quality care. Clinical and translational research based on large patient populations as well as highly sophisticated technologies are emerging in many neurologic centers and pharmaceutical companies. Child neurology and neurorehabilitation will be fast-developing subdisciplines. Given China's extensive population, the growth and progress of its neurology complex, and its ever-improving quality control, it is reasonable to anticipate that Chinese neurologists will contribute notably to unraveling the pathogenic factors causing neurologic diseases and to providing new therapeutic solutions.

  18. Duchenne and Becker Muscular Dystrophies (United States)

    ... that our son Mike, then age 4, has Duchenne muscular dystrophy, we were devastated. Immediately, our hopes and dreams ... over time, the per- son’s muscle strength declines. Duchenne muscular dystrophy (DMD) was first described by the French neurologist ...

  19. Therapeutic advances in muscular dystrophy


    Leung, Doris G; Wagner, Kathryn R


    The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, facioscapulohumeral muscular dystr...

  20. Allergenicity of bony and cartilaginous fish - molecular and immunological properties. (United States)

    Stephen, J N; Sharp, M F; Ruethers, T; Taki, A; Campbell, D E; Lopata, A L


    Allergy to bony fish is common and probably increasing world-wide. The major heat-stable pan-fish allergen, parvalbumin (PV), has been identified and characterized for numerous fish species. In contrast, there are very few reports of allergic reactions to cartilaginous fish despite widespread consumption. The molecular basis for this seemingly low clinical cross-reactivity between these two fish groups has not been elucidated. PV consists of two distinct protein lineages, α and β. The α-lineage of this protein is predominant in muscle tissue of cartilaginous fish (Chondrichthyes), while β-PV is abundant in muscle tissue of bony fish (Osteichthyes). The low incidence of allergic reactions to ingested rays and sharks is likely due to the lack of molecular similarity, resulting in reduced immunological cross-reactivity between the two PV lineages. Structurally and physiologically, both protein lineages are very similar; however, the amino acid homology is very low with 47-54%. Furthermore, PV from ancient fish species such as the coelacanth demonstrates 62% sequence homology to leopard shark α-PV and 70% to carp β-PV. This indicates the extent of conservation of the PV isoforms lineages across millennia. This review highlights prevalence data on fish allergy and sensitization to fish, and details the molecular diversity of the two protein lineages of the major fish allergen PV among different fish groups, emphasizing the immunological and clinical differences in allergenicity. © 2017 John Wiley & Sons Ltd.

  1. Limb girdle muscular dystrophies

    DEFF Research Database (Denmark)

    Vissing, John


    PURPOSE OF REVIEW: The aim of the study was to describe the clinical spectrum of limb girdle muscular dystrophies (LGMDs), the pitfalls of the current classification system for LGMDs, and emerging therapies for these conditions. RECENT FINDINGS: Close to half of all LGMD subtypes have been...

  2. Neurology check list. 5. rev. and enl. ed.; Checkliste Neurologie

    Energy Technology Data Exchange (ETDEWEB)

    Grehl, Holger [Evangelisches und Johanniter Klinikum, Duisburg (Germany). Neurologische Klinik; Reinhardt, Frank


    The neurology check list covers the following issues, organized in four parts: Grey part - diagnostic fundamentals, therapeutic principles: clinical neurological examination, liquor puncture, specific laboratory diagnostics, neurophysical diagnostics, imaging techniques, therapeutic principles, legal aspects, neurological assessment. Green Part - leading syndromes and leading symptoms. Blue part - neurological disease appearance: pains in head and face, pain syndrome, congenital and development disturbances, liquor circulation disturbances, ZNS hemorrhages, tumors and neoplasm, paraneoplastic syndromes, inflammatory diseases of the nervous system, dementia diseases, metabolic and other encephalopathy, cerebellum diseases and system surmounting processes, movement degeneration, basal ganglion diseases, epilepsy, non-epileptic attacks, medulla diseases, brain nerve diseases, plexus lesions, radicular lesions, peripheric neuropathy, neuromuscular transfer disturbances, muscular diseases. Red part: neurological intensive medicine.

  3. Macroanatomic and radiologic characteristics of the superior genial spinal foramen and its bony canal


    Vandewalle, Giovani; Liang, Xin; JACOBS, Romain; Lambrichts, Ivo


    Purpose: To determine the incidence, size, location, course, and content of the superior genial spinal foramen and its bony canal. Materials and Methods: Three hundred eighty dry human cadaver mandibles were morphometrically analyzed by measuring the distance from the foramen to the mandibular base and the size of the foramen and bony canal. Radiologically, the course of the bony canal and its relation to the mandibular incisive canal were investigated after injecting contrast medium (Omnipaq...

  4. [Neurorehabilitation, neurology, rehabilitation medicine]. (United States)

    Urbán, Edina; Szél, István; Fáy, Veronika; Dénes, Zoltán; Lippai, Zoltán; Fazekas, Gábor


    We have read several publications of great authority on the neurological profession in the last two years in which were expressed assessments of the current situation combined with opinions about neurology and the necessity to reorganize neurological patient care. These articles took up the question of neurorehabilitation too. The authors, who on a daily basis, deal with the rehabilitation of people with disabilities as a consequence of neurological conditions, summarize some important definitions of rehabilitation medicine and the present system of neurological rehabilitation, as it is defined by the rehabilitation profession.

  5. Neurology at the bedside

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Waldemar, Gunhild

    This updated and expanded new edition takes neurology trainees by the hand and guides them through the whole patient encounter - from an efficient neurological history and bedside examination through to differential diagnosis, diagnostic procedures and treatment. At each step the expert authors......, as have new chapters including neurogenetics, neurorehabilitation, neurocritical care and heuristic neurological reasoning. In addition, this second edition now includes more than 100 unique case histories. Neurology at the Bedside, Second Edition is written for neurologists in all stages of training....... Medical students, general practitioners and others with an interest in neurology will also find invaluable information here....

  6. [Buccal bony exostoses induced by free gingival grafts]. (United States)

    Tal, H; Slutzkey, S


    Buccal Bony Exostoses (BBE) is a local benign osseous overgrowth continuous with the facial aspect of the jaw. Post operative BBE may be the result of dermal grafts used to restore the buccal vestibulum, of connective tissue graft placement, and of Free Gingival Grafts (FGG) procedures. In 46 patients in whom 72 FGG procedures were performed by the senior author (HT) over the past 12 years, BBE was clinically and radiographically diagnosed. In one case the tumor was surgically removed. The etiology, pathogenesis and frequency of BBE following FGG procedures was reviewed and discussed. We suggest that the BBE may develop owing to periosteal surgical trauma during FGG procedures, and suggest that this phenomenon receives further attention.

  7. Inverted 'V' osteotomy excision arthroplasty for bony ankylosed elbows

    Directory of Open Access Journals (Sweden)

    Rex Chadrabose


    Full Text Available Abstract Background Bony ankylosis of elbow is challenging and difficult problem to treat. The options are excision arthroplasty and total elbow replacement. We report our midterm results on nine patients, who underwent inverted 'V' osteotomy excision arthroplasty in our hospital with good functional results. Materials Our case series includes 9 patients (seven males and two females with the mean age of 34 years (13-56 years. Five patients had trauma, two had pyogenic arthritis, one had tuberculous arthritis, and one had pyogenic arthritis following surgical fixation. Results The average duration of follow up is 65 months (45 months-80 months. The mean Mayo's elbow performance score (MEPS preoperatively was 48 (35-70. The MEPS at final follow up was 80 (60-95. With no movement at elbow and fixed in various degrees of either flexion or extension preoperatively, the mean preoperative position of elbow was 64°(30°to 100°. The mean post operative range of motion at final follow up was 27°of extension (20-500, 116°of flexion (1100-1300, and the arc of motion was 88°(800-1000. One patient had ulnar nerve neuropraxia and another patient developed median nerve neuropraxia, and both recovered completely in six weeks. No patient had symptomatic instability of the elbow. All patients were asymptomatic except one patient, who had pain mainly on heavy activities. Conclusion We conclude that inverted 'V' osteotomy excision arthroplasty is a viable option in the treatment of bony ankylosis of the elbow in young patients.

  8. Inverted 'V' osteotomy excision arthroplasty for bony ankylosed elbows. (United States)

    Rex, Chadrabose; Periyasamy, Rameshkumar; Balaji, Subbachandra; Premanand, C; Alva, Shreyas; Reddy, Shiva


    Bony ankylosis of elbow is challenging and difficult problem to treat. The options are excision arthroplasty and total elbow replacement. We report our midterm results on nine patients, who underwent inverted 'V' osteotomy excision arthroplasty in our hospital with good functional results. Our case series includes 9 patients (seven males and two females) with the mean age of 34 years (13-56 years). Five patients had trauma, two had pyogenic arthritis, one had tuberculous arthritis, and one had pyogenic arthritis following surgical fixation. The average duration of follow up is 65 months (45 months-80 months). The mean Mayo's elbow performance score (MEPS) preoperatively was 48 (35-70). The MEPS at final follow up was 80 (60-95). With no movement at elbow and fixed in various degrees of either flexion or extension preoperatively, the mean preoperative position of elbow was 64°(30°to 100°). The mean post operative range of motion at final follow up was 27°of extension (20-500), 116°of flexion (1100-1300), and the arc of motion was 88°(800-1000). One patient had ulnar nerve neuropraxia and another patient developed median nerve neuropraxia, and both recovered completely in six weeks. No patient had symptomatic instability of the elbow. All patients were asymptomatic except one patient, who had pain mainly on heavy activities. We conclude that inverted 'V' osteotomy excision arthroplasty is a viable option in the treatment of bony ankylosis of the elbow in young patients.

  9. Duchenne muscular dystrophy. (United States)

    Yiu, Eppie M; Kornberg, Andrew J


    Duchenne muscular dystrophy, an X-linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, non-invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The clinical features, investigations and management of Duchenne muscular dystrophy are reviewed, as well as the latest in some of the novel therapies. © 2015 The Authors. Journal of Paediatrics and Child Health © 2015 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  10. Chapter 38: American neurology. (United States)

    Freemon, Frank R


    The great formative event in the history of North America, the Civil War of 1861 to 1865, was the stimulus for the development of clinical neurology and the neurosciences. The first neurological research center on the continent was the US Army hospital at Turner's Lane, Philadelphia, PA. Silas Weir Mitchell and his colleagues described causalgia (reflex sympathetic dystrophy), phantom limb sensation, and Horner's syndrome (before Horner). The medical leader of the Northern army was William Hammond. After the conclusion of hostilities, he began a huge clinical practice in New York City. In the United States, clinical neurology began in private practice, unlike Europe, where neurology began in institutions. Hammond's textbook, which first used the term athetosis, was used by a generation of physicians who encountered patients with neurological signs and symptoms. Early in the 20th century, neurological institutions were formed around universities; probably the most famous was the Montreal Neurological Institute founded by Wilder Penfield. The US federal government sponsored extensive research into the function and dysfunction of the nervous system through the Neurological Institute of Neurological Diseases and Blindness, later called the National Institute of Neurological Diseases and Stroke. The government officially classified the final 10 years of the 20th century as the Decade of the Brain and provided an even greater level of research funding.

  11. Sleep disorders in children with neurologic diseases. (United States)

    Zucconi, M; Bruni, O


    Pediatric neurologic diseases are often associated with different kinds of sleep disruption (mainly insomnia, less frequently hypersomnia or parasomnias). Due to the key-role of sleep for development, the effort to ameliorate sleep patterns in these children could have important prognostic benefits. Study of sleep architecture and organization in neurologic disorders could lead to a better comprehension of the pathogenesis and a better treatment of the disorders. This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and myotonic dystrophy; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, blindness, and epilepsy.

  12. [Frequency of hereditary neurologic diseases. A clinical study]. (United States)

    Leone, M; Baldini, S; Voltolin, G; Norat, M; Bottacchi, E


    The nervous system is affected in 30% of hereditary monogenic disorders and as many as 500 single-gene disorders display major neurologic symptoms. We have studied the frequency of hereditary neurological diseases to assess their importance in daily hospital activity. Only single-gene hereditary diseases with central or peripheral nervous system involvement were considered; thus chromosomal diseases and diseases with multifactorial etiology were excluded. We surveyed admission to in- and out-patient departments of Neurology, Pediatrics, and Dermatology of the Aosta Regional Hospital for the calendar years 1982-1991, collecting 229 cases, 95 women and 134 men. Out-patient departments held 126 patients, the others came from in-patient departments. Admission to the neurological in-patient department were 1.8% of total neurological admissions in the same period. Each diagnosis was assigned to the code number of the International Classification of Diseases (ICD-IX Revision, 1975). We found 33 different phenotypes. Most frequent diagnoses were: essential tremor (89 patients), hereditary sensory-motor neuropathy (HSMN) type I (28), Huntington's chorea (13), progressive muscular dystrophy limb-girdle type (8), neurofibromatosis type I (9), HSMN type II (9), spinocerebellar ataxia (9), hereditary spastic paraplegia (7), spinal muscular atrophy type IV (5), myotonic dystrophy (5), cerebellar ataxia (4), HSMN type III (4), spinal muscular atrophy type II and III (3), tuberous sclerosis (3). Essential tremor mostly affected persons in the over-50 age groups. On the contrary, the other neurologic monogenic diseases were diagnosed in all ages with the following age-group breakdown: 0-9, 11%; 10-19, 16%; 20-29, 15%; 30-39, 8%; 40-49, 11%; 50-59, 19%; 60-69, 14%, 70+, 7%. Consistently with the general rule, autosomic recessive diseases have the earliest onset and autosomic dominant ones the latest; HSMN, spinal muscular atrophy and Huntington's chorea were the disorders diagnosed

  13. Genetics of neurological disorders. (United States)

    Faghihi, Mohammad Ali; Mottagui-Tabar, Salim; Wahlestedt, Claes


    Neurological diseases are defined as an inappropriate function of the peripheral or central nervous system due to impaired electrical impulses throughout the brain and/or nervous system that may present with heterogeneous symptoms according to the parts of the system involved in these pathologic processes. Growing evidence on genetic components of neurological disease have been collected during recent years. Genetic studies have opened the way for understanding the underlying pathology of many neurological disorders. The outcome of current intense research into the genetics of neurological disorders will hopefully be the introduction of new diagnostic tools and the discovery of potential targets for new and more effective medications and preventive measures.

  14. Focal neurological deficits (United States)

    ... or head Electromyogram (EMG), nerve conduction velocities (NCV) MRI of the back, neck, or head Spinal tap Alternative Names Neurological deficits - focal Images Brain References Daroff RB, Jankovic ...

  15. Limb-Girdle Muscular Dystrophy (LGMD) (United States)

    ... Blog Donate Search Close Limb-Girdle Muscular Dystrophy (LGMD) Share print email share facebook twitter google plus linkedin Limb-Girdle Muscular Dystrophy (LGMD) What is limb-girdle muscular dystrophy? Limb- ...

  16. Genetics Home Reference: Fukuyama congenital muscular dystrophy (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  17. Genetics Home Reference: tibial muscular dystrophy (United States)

    ... Twitter Home Health Conditions Tibial muscular dystrophy Tibial muscular dystrophy Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Tibial muscular dystrophy is a condition that affects the muscles at ...

  18. Morphometric Measurements of Bony Nasolacrimal Canal in Children. (United States)

    Ela, Araz Server; Cigdem, Kalaycik Ertugay; Karagoz, Yesim; Yigit, Ozgur; Longur, Ecem Sevim


    Morphology and dimensions of the bony nasolacrimal canal duct (BNLD) as a key factor in the development of primary acquired nasolacrimal duct obstruction. We aimed to obtain detailed morphometric analysis of BNLD in children without nasolacrimal duct pathology by using computed tomography and provide standard measurements by means of age which could be utilized in planning management or in invasive interventions. Picture Archiving Communication Systems database of our hospital's radiology department was searched for this retrospective study. Subjects were under 18 years of age who had undergone a paranasal, maxillofacial, or temporal bone high-resolution computed tomography scan in last 2 years with various indications. Those with fractures including facial bones and/or nasolacrimal canal or history of nasolacrimal duct pathology were excluded from the study. We measured the diameter, angle, and surface area of BNLD. A total number of 136 subjects (86 boys, 50 girls) were included in the study. The average age was 7.3 ± 5.1 years. We documented statistically significantly positive correlation between all measured diameters and ages (P  0.050). Our study demonstrated that development of BNLD continues during childhood, regardless of gender.

  19. Viral vaccines for bony fish: past, present and future. (United States)

    Salgado-Miranda, Celene; Loza-Rubio, Elizabeth; Rojas-Anaya, Edith; García-Espinosa, Gary


    Since 1970, aquaculture production has grown. In 2010, it had an annual average rate of 6.3% with 59.9 million tons of product and soon could exceed capture fisheries as a source of fishery products. However, the occurrence of viral diseases continues to be a significant limiting factor and its control is important for the development of this sector. In aquaculture farms, fish are reared under intensive culture conditions, and the use of viral vaccines has enabled an increase in production. Several types of vaccines and strategies of vaccination have been developed; however, this approach has not reached the expected goals in the most susceptible stage (fingerlings). Currently, there are inactivated and recombinant commercial vaccines, mainly for salmonids and cyprinids. In addition, updated genomic and proteomic technology has expedited the research and expansion of new vaccine models, such as those comprised of subunits or DNA. The objective of this review is to cover the various types of viral vaccines that have been developed and are available for bony fishes, as well as the advantages and challenges that DNA vaccines present for massive administration in a growing aquaculture, possible risks for the environment, the controversy regarding genetically modified organisms and possible acceptance by consumers.

  20. Cardio-Muscular Conditioner (United States)


    In the mid-sixties, Gary Graham, a Boeing designer, developed a cardiovascular conditioner for a planned Air Force orbiting laboratory. After the project was cancelled, Graham participated in space station conditioning studies for the Skylab program. Twenty years later, he used this expertise to develop the Shuttle 2000-1, a physical therapy and athletic development conditioner, available through Contemporary Designs. The machine is used by football teams, sports clinics and medical rehabilitation centers. Cardiovascular fitness and muscular strength development are promoted through both kinetic and plyometric exercises.

  1. [Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy]. (United States)

    Silva, Helga Cristina Almeida da; Hiray, Marcia; Vainzof, Mariz; Schmidt, Beny; Oliveira, Acary Souza Bulle; Amaral, José Luiz Gomes do


    Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L -1 (normal 174IU.L -1 ). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  2. Functional neurological disorders: imaging. (United States)

    Voon, V


    Functional neurological disorders, also known as conversion disorder, are unexplained neurological symptoms. These symptoms are common and can be associated with significant consequences. This review covers the neuroimaging literature focusing on functional motor symptoms including motor functioning and upstream influences including self-monitoring and internal representations, voluntariness and arousal and trauma. Copyright © 2014. Published by Elsevier SAS.

  3. Neurological Complications of AIDS (United States)

    ... the National Library of Medicine’s MedlinePlus Living with HIV/AIDS × What research is being done? The National Institute of Neurological ... the National Library of Medicine’s MedlinePlus Living with HIV/AIDS See More About Research The National Institute of Neurological Disorders and Stroke ( ...

  4. Neurologic complications of vaccinations. (United States)

    Miravalle, Augusto A; Schreiner, Teri


    This chapter reviews the most common neurologic disorders associated with common vaccines, evaluates the data linking the disorder with the vaccine, and discusses the potential mechanism of disease. A literature search was conducted in PubMed using a combination of the following terms: vaccines, vaccination, immunization, and neurologic complications. Data were also gathered from publications of the American Academy of Pediatrics Committee on Infectious Diseases, the World Health Organization, the US Centers for Disease Control and Prevention, and the Vaccine Adverse Event Reporting System. Neurologic complications of vaccination are rare. Many associations have been asserted without objective data to support a causal relationship. Rarely, patients with a neurologic complication will have a poor outcome. However, most patients recover fully from the neurologic complication. Vaccinations have altered the landscape of infectious disease. However, perception of risk associated with vaccinations has limited the success of disease eradication measures. Neurologic complications can be severe, and can provoke fear in potential vaccines. Evaluating whether there is causal link between neurologic disorders and vaccinations, not just temporal association, is critical to addressing public misperception of risk of vaccination. Among the vaccines available today, the cost-benefit analysis of vaccinations and complications strongly argues in favor of vaccination. © 2014 Elsevier B.V. All rights reserved.

  5. Neurology in Asia. (United States)

    Tan, Chong-Tin


    Asia is important as it accounts for more than half of the world population. The majority of Asian countries fall into the middle income category. As for cultural traditions, Asia is highly varied, with many languages spoken. The pattern of neurologic diseases in Asia is largely similar to the West, with some disease features being specific to Asia. Whereas Asia constitutes 60% of the world's population, it contains only 20% of the world's neurologists. This disparity is particularly evident in South and South East Asia. As for neurologic care, it is highly variable depending on whether it is an urban or rural setting, the level of economic development, and the system of health care financing. To help remedy the shortage of neurologists, most counties with larger populations have established training programs in neurology. These programs are diverse, with many areas of concern. There are regional organizations serving as a vehicle for networking in neurology and various subspecialties, as well as an official journal (Neurology Asia). The Asian Epilepsy Academy, with its emphasis on workshops in various locations, EEG certification examination, and fellowships, may provide a template of effective regional networking for improving neurology care in the region. © 2015 American Academy of Neurology.

  6. Severe bony ankylosis of the temporomandibular joint on one side and contralateral adhesion: A case report


    Song, Ji-Young; Kim, Seong-Gon; Choi, Hang-Moon; Kim, Hyun Jung


    Bony fusion between the mandibular condyle and skull base involves temporomandibular joint (TMJ) bony ankylosis. This condition might originate from trauma, infection, or systemic disease. TMJ adhesion can develop after synovial damage. Both TMJ ankylosis and adhesion lead to functional impairment and pain. Here, we present a case of a 50-year-old female who had bony ankylosis of the right TMJ and adhesion of the left TMJ. She had otitis media in the right ear. A large mass in the right TMJ w...

  7. Neurology and international organizations. (United States)

    Mateen, Farrah J


    A growing number of international stakeholders are engaged with neurologic diseases. This article provides a brief overview of important international stakeholders in the practice of neurology, including global disease-specific programs, United Nations agencies, governmental agencies with international influence, nongovernmental organizations, international professional organizations, large private donors, private-public partnerships, commercial interests, armed forces, and universities and colleges. The continued engagement of neurologists is essential for the growing number of international organizations that can and should incorporate neurologic disease into their global agendas.

  8. Stem Cell Therapy in Pediatric Neurological Disorders

    Directory of Open Access Journals (Sweden)

    Farnaz Torabian


    Full Text Available Pediatric neurological disorders including muscular dystrophy, cerebral palsy, and spinal cord injury are defined as a heterogenous group of diseases, of which some are known to be genetic. The two significant features represented for stem cells, leading to distinguish them from other cell types are addressed as below: they can renew themselves besides the ability to differentiate into cells with special function as their potency. Researches about the role of stem cells in repair of damaged tissues in different organs like myocardium, lung, wound healing, and others are developing. In addition, the use of stem cells in the treatment and improving symptoms of neurological diseases such as autism are known. Many epigenetic and immunological studies on effects of stem cells have been performed. The action of stem cells in tissue repair is a need for further studies. The role of these cells in the secretion of hormones and growth factors in the niche, induction of cell division and differentiation in local cells and differentiation of stem cells in damaged tissue is the samples of effects of tissue repair by stem cells.Cognitive disorders, epilepsy, speech and language disorders, primary sensory dysfunction, and behavioral challenges are symptoms of non-neuromotor dysfunction in half of pediatrics with CP. Occupational therapy, oral medications, and orthopedic surgery for supportive and rehabilitative approaches are part of Conventional remedy for cerebral palsy. This paper summarizes the clinical world wide experience about stem cell based therapeutic procedures for pediatric neurological disorders.

  9. Stem cell therapy in pediatric neurological disorders

    Directory of Open Access Journals (Sweden)

    Farnaz Torabian


    Full Text Available Pediatric neurological disorders including muscular dystrophy, cerebral palsy, and spinal cord injury are defined as a heterogenous group of diseases, of which some are known to be genetic. The two significant features represented for stem cells, leading to distinguish them from other cell types are addressed as below: they can renew themselves besides the ability to differentiate into cells with special function as their potency. Researches about the role of stem cells in repair of damaged tissues in different organs like myocardium, lung, wound healing, and others are developing. In addition, the use of stem cells in the treatment and improving symptoms of neurological diseases such as autism are known. Many epigenetic and immunological studies on effects of stem cells have been performed. The action of stem cells in tissue repair is a need for further studies. The role of these cells in the secretion of hormones and growth factors in the niche, induction of cell division and differentiation in local cells and differentiation of stem cells in damaged tissue is the samples of effects of tissue repair by stem cells.Cognitive disorders, epilepsy, speech and language disorders, primary sensory dysfunction, and behavioral challenges are symptoms of non-neuromotor dysfunction in half of pediatrics with CP. Occupational therapy, oral medications, and orthopedic surgery for supportive and rehabilitative approaches are part of Conventional remedy for cerebral palsy. This paper summarizes the clinical world wide experience about stem cell based therapeutic procedures for pediatric neurological disorders.

  10. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje


    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination.......0 years, 45 % males), 327 (51.7 %) presented at the initial visit with ≥1 neurological abnormality and 242 (38 %) reached the main study outcome. Cox regression analyses, adjusting for MRI features and other determinants of functional decline, showed that the baseline presence of any neurological...

  11. Neurological diseases and pain


    Borsook, David


    Chronic pain is a frequent component of many neurological disorders, affecting 20–40% of patients for many primary neurological diseases. These diseases result from a wide range of pathophysiologies including traumatic injury to the central nervous system, neurodegeneration and neuroinflammation, and exploring the aetiology of pain in these disorders is an opportunity to achieve new insight into pain processing. Whether pain originates in the central or peripheral nervous system, it frequentl...

  12. Wikipedia and neurological disorders. (United States)

    Brigo, Francesco; Igwe, Stanley C; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, Willem M


    Our aim was to evaluate Wikipedia page visits in relation to the most common neurological disorders by determining which factors are related to peaks in Wikipedia searches for these conditions. Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a popular free online encyclopedia used by patients and physicians to search for health-related information. The following Wikipedia articles were considered: Alzheimer's disease; Amyotrophic lateral sclerosis; Dementia; Epilepsy; Epileptic seizure; Migraine; Multiple sclerosis; Parkinson's disease; Stroke; Traumatic brain injury. We analyzed information regarding the total article views for 90 days and the rank of these articles among all those available in Wikipedia. We determined the highest search volume peaks to identify possible relation with online news headlines. No relation between incidence or prevalence of neurological disorders and the search volume for the related articles was found. Seven out of 10 neurological conditions showed relations in search volume peaks and news headlines. Six out of these seven peaks were related to news about famous people suffering from neurological disorders, especially those from showbusiness. Identification of discrepancies between disease burden and health seeking behavior on Wikipedia is useful in the planning of public health campaigns. Celebrities who publicly announce their neurological diagnosis might effectively promote awareness programs, increase public knowledge and reduce stigma related to diagnoses of neurological disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Distribution of internal strains around bony prominences in pigs. (United States)

    Solis, Leandro R; Liggins, Adrian B; Seres, Peter; Uwiera, Richard R E; Poppe, Niek R; Pehowich, Enid; Thompson, Richard B; Mushahwar, Vivian K


    Deep tissue injury (DTI) is a type of pressure ulcer in which tissue breakdown initiates at the bone-muscle interface under intact skin. Excessive deformation in the soft tissue, particularly around bony prominences, is believed to be one of the causes leading to the development of DTI. The main goal of this study was to measure the magnitude and distribution of strains within muscles surrounding the ischial tuberosities, induced by levels of external loading that encompass the range of loading experienced by the soft tissue in seated individuals. The experiments were conducted in adult pigs with intact spinal cords (n = 5) and pigs with partial spinal cord injury (SCI) (n = 2), one of which also had a DTI. A secondary goal was to obtain a preliminary assessment regarding the capacity of intermittent electrical stimulation (IES), an intervention for preventing the formation of DTI, to counteract the muscle compression caused by external loading. In intact animals, muscles subjected to external loads equivalent to 25% of body weight experienced maximal principal strains, minimal principal strains, and shear strains of 0.68, -0.3, and 0.4, respectively. These magnitudes increased by 91.9, 17.6, and 87.5%, respectively, when external loading increased to 50% body weight. Minimal to no further increases in strain magnitudes were seen with the 75% body weight loading level. In one animal with SCI and no DTI, strain magnitudes were on average 9.7% higher than those in the intact animals at the corresponding loading levels. The presence of a DTI in another animal with SCI reduced strain magnitudes by 28% compared to intact animals. The regions in the muscle that underwent the largest deformations were those between the ischial tuberosity and the external surface, and up to 2 cm ventral to the ischial tuberosity (furthest measured). Muscle contractions produced by IES increased the thickness of the tissue between the ischial tuberosities and skin during the period of

  14. Ageing of the bony orbit is a major cause of age-related intraorbital fat herniation. (United States)

    Kim, Junhyung; Park, Sang Woo; Choi, Jaehoon; Jeong, Woonhyeok; Lee, Seongwon


    We evaluated the relationship between infraorbital fat herniation and age-related changes in the bony orbit and orbital fat density using computed tomography. Two hundred and sixty-five patients were enrolled (60 patients were evaluated for changes in the bony orbit and 205 for changes in orbital fat density). Five measurements using parasagittal sections and one measurement using three-dimensional images were obtained. Intraorbital fat herniation length was positively correlated with orbital rim inclination. Lowering of the inferior orbital rim, which is connected to the orbicularis retaining ligament, tear trough ligament and orbital septum, can cause mechanical stretching of the lower eyelid and may contribute to infraorbital fat herniation. A strong and significant negative correlation was observed between orbital fat density and age, indicating that existing orbital fat can accommodate an enlargement in bony orbit volume without orbital fat hyperplasia/hypertrophy. In other words, an increased orbital fat volume may be a by-product of the adaptation of orbital fat to changes in bony orbit volume. Mechanical stretching of the lower eyelid due to ageing of the bony orbit and weakening of the lower eyelid due to age-related factors such as dermal/fat/muscle atrophy and loss of muscle tone can together result in anterior drooping of the lower eyelid. Therefore, age-related changes in the bony orbit contribute to intraorbital fat herniation. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  15. Muscular Dystrophy: Data and Statistics (United States)

    ... listing of Medicaid or Children’s Health Insurance Program (CHIP) insurance in the medical record. Age in Years ( ... Oleszek J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net ). Trends with corticosteroid use in ...

  16. Wasting Mechanisms in Muscular Dystrophy (United States)

    Shin, Jonghyun; Tajrishi, Marjan M.; Ogura, Yuji; Kumar, Ashok


    Muscular dystrophy is a group of more than 30 different clinical genetic disorders that are characterized by progressive skeletal muscle wasting and degeneration. Primary deficiency of specific extracellular matrix, sarcoplasmic, cytoskeletal, or nuclear membrane protein results in several secondary changes such as sarcolemmal instability, calcium influx, fiber necrosis, oxidative stress, inflammatory response, breakdown of extracellular matrix, and eventually fibrosis which leads to loss of ambulance and cardiac and respiratory failure. A number of molecular processes have now been identified which hasten disease progression in human patients and animal models of muscular dystrophy. Accumulating evidence further suggests that aberrant activation of several signaling pathways aggravate pathological cascades in dystrophic muscle. Although replacement of defective gene with wild-type is paramount to cure, management of secondary pathological changes has enormous potential to improving the quality of life and extending lifespan of muscular dystrophy patients. In this article, we have reviewed major cellular and molecular mechanisms leading to muscle wasting in muscular dystrophy. PMID:23669245

  17. Learning about Duchenne Muscular Dystrophy (United States)

    Skip to main content Learning About Duchenne Muscular Dystrophy Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

  18. [Neurology and literature]. (United States)

    Iniesta, I


    Literature complements medical literature in the academic and clinical development of neurologists. The present article explores the contributions of writers of fiction on neurology. Literary works of fiction with particular reference to neurology. A symbiosis between writers of fiction and doctors has been well recognised. From Shakespeare to Cervantes by way of Dickens and Cela to writer - physicians such as Anton Chekhov or António Lobo Antunes have contributed through their medically informed literature to the better understanding of neurology. Some writers like Dostoevsky, Machado de Assis and Margiad Evans have written about their own experiences with disease thus bringing new insights to medicine. Furthermore, some neurological disorders have been largely based on literary descriptions. For instance, Dostoevsky's epilepsy has been retrospectively analysed by famous neurologists including Freud, Alajouanine or Gastaut, whilst his writings and biography have prompted others like Waxman and Geschwind to describe typical behavioural changes in temporal lobe epilepsy, finding their source of inspiration in Dostoevsky. Likewise, Cirignotta et al have named an unusual type of seizure after the Russian novelist. Inspired by Lewis Carroll, Todd introduced the term Alice in Wonderland Syndrome to refer to visual distortions generally associated with migraine. Writers of fiction offer a humanised perception of disease by contributing new insights into the clinical history, informing about the subjective experience of the illness and helping to eradicate the stigma associated to neurological disorders.

  19. Suicide in Neurologic Illness. (United States)

    Arciniegas, David B.; Anderson, C. Alan


    The risk of attempted or completed suicide is increased in patients with migraine with aura, epilepsy, stroke, multiple sclerosis, traumatic brain injury, and Huntington's disease. Contrary to the general perception that the risk of suicide among patients with Alzheimer's disease and other dementing conditions is low, several reports suggest that the risk of suicide in these patients increases relative to the general population. Some patients at risk for neurologic disorders are also at increased risk for suicide; in particular, the risk of suicide is increased among persons at risk for Huntington's disease, independent of the presence or absence of the Huntington's gene mutation. The risk of attempted or completed suicide in neurologic illness is strongly associated with depression, feelings of hopelessness or helplessness, and social isolation. Additional suicide risk factors in persons with neurologic illness include cognitive impairment, relatively younger age (under 60 years), moderate physical disability, recent onset or change in illness, a lack of future plans or perceived meaning in life, recent losses (personal, occupational, or financial), and prior history of psychiatric illness or suicidal behavior. Substance dependence, psychotic disorders, anxiety disorders, and some personality disorders (eg, borderline personality disorder) may also contribute to increased risk of suicide among persons with neurologic illnesses. Identification and aggressive treatment of psychiatric problems, especially depression, as well as reduction of modifiable suicide risk factors among patients with neurologic illness is needed to reduce the risk of attempted and completed suicide in this population.

  20. [Neurological sleep disorders]. (United States)

    Khatami, Ramin


    Neurological sleep disorders are common in the general population and may have a strong impact on quality of life. General practitioners play a key role in recognizing and managing sleep disorders in the general population. They should therefore be familiar with the most important neurological sleep disorders. This review provides a comprehensive overview of the most prevalent and important neurological sleep disorders, including Restless legs syndrome (with and without periodic limb movements in sleep), narcolepsy, NREM- and REM-sleep parasomnias and the complex relationship between sleep and epilepsies. Although narcolepsy is considered as a rare disease, recent discoveries in narcolepsy research provided insight in the function of brain circuitries involved in sleep wake regulation. REM sleep behavioral parasomnia (RBD) is increasingly recognized to represent an early manifestation of neurodegenerative disorders, in particular evolving synucleinopathies. Early diagnosis may thus open new perspectives for developing novel treatment options by targeting neuroprotective substances.

  1. The Nordic Five to Fifteen questionnaire could provide the basis for a common neurological disability variable

    DEFF Research Database (Denmark)

    Illum, Niels Ove; Gradel, Kim Oren


    in children. Our study evaluated its internal validity and whether it could be used to generate a common disability variable across childhood neurological disorders and severities. METHODS: The 28-statement FTF questionnaire was completed by the parents of children with spina bifida, muscular disorders...

  2. Guided tissue regeneration for periodontal infra-bony defects. (United States)

    Needleman, I G; Worthington, H V; Giedrys-Leeper, E; Tucker, R J


    Conventional treatment of destructive periodontal (gum) disease arrests the disease but does not usually regain the bone support or connective tissue lost in the disease process. Guided tissue regeneration (GTR) is a surgical procedure that specifically aims to regenerate the periodontal tissues when the disease is advanced and could overcome some of the limitations of conventional therapy. To assess the efficacy of GTR in the treatment of periodontal infra-bony defects measured against conventional surgery (open flap debridement (OFD)) and factors affecting outcomes. We conducted an electronic search of the Cochrane Oral Health Group Trials Register, MEDLINE and EMBASE up to April 2004. Handsearching included Journal of Periodontology, Journal of Clinical Periodontology, Journal of Periodontal Research and bibliographies of all relevant papers and review articles up to April 2004. In addition, we contacted experts/groups/companies involved in surgical research to find other trials or unpublished material or to clarify ambiguous or missing data and posted requests for data on two periodontal electronic discussion groups. Randomised, controlled trials (RCTs) of at least 12 months duration comparing guided tissue regeneration (with or without graft materials) with open flap debridement for the treatment of periodontal infra-bony defects. Furcation involvements and studies specifically treating aggressive periodontitis were excluded. Screening of possible studies and data extraction was conducted independently. The methodological quality of studies was assessed in duplicate using individual components and agreement determined by Kappa scores. Methodological quality was used in sensitivity analyses to test the robustness of the conclusions. The Cochrane Oral Health Group statistical guidelines were followed and the results expressed as mean differences (MD and 95% CI) for continuous outcomes and risk ratios (RR and 95% CI) for dichotomous outcomes calculated using

  3. Ageing with Muscular Disease. (United States)

    Martinsen, Bente; Dreyer, Pia


    The demographic development with an ageing population is predicted to be the next global public health challenge. Advances in medicine and the socioeconomic development have reduced mortality and morbidity due to infectious conditions and non-communicable diseases. The increase in longevity will not be restricted to healthy people. To understand how people with muscular diseases experience ageing. A literature review was conducted using the Matrix Method developed by Garrard (2007). This systematic method was used to identify, describe and interpret studies, irrespective of the methods applied. To avoid the exclusion of important sources, experiences and topics, we chose an integrative approach that accommodates the inclusion of studies with different methodologies. People with MD have gradually extended their life expectancy during the last 30 years. Thus, we reviewed the literature regarding MD and ageing without time limit. We identified three themes: 1) Slowing down early 2) Accepting lifelong deterioration and 3) Striving for normality. People with MD live in a field of tension between a feeling of autonomy and normality and difficulties coping with reduced physical abilities. Getting older accentuates this tension since the physical strength diminishes and it is harder to maintain autonomy. The bodily challenges may coincide with the end of the rehabilitation people living with MD have received. Seemingly, no age-related rehabilitation is offered, and people living with MD are thus at risk of an unnecessarily passive life.

  4. The neurological disease ontology. (United States)

    Jensen, Mark; Cox, Alexander P; Chaudhry, Naveed; Ng, Marcus; Sule, Donat; Duncan, William; Ray, Patrick; Weinstock-Guttman, Bianca; Smith, Barry; Ruttenberg, Alan; Szigeti, Kinga; Diehl, Alexander D


    We are developing the Neurological Disease Ontology (ND) to provide a framework to enable representation of aspects of neurological diseases that are relevant to their treatment and study. ND is a representational tool that addresses the need for unambiguous annotation, storage, and retrieval of data associated with the treatment and study of neurological diseases. ND is being developed in compliance with the Open Biomedical Ontology Foundry principles and builds upon the paradigm established by the Ontology for General Medical Science (OGMS) for the representation of entities in the domain of disease and medical practice. Initial applications of ND will include the annotation and analysis of large data sets and patient records for Alzheimer's disease, multiple sclerosis, and stroke. ND is implemented in OWL 2 and currently has more than 450 terms that refer to and describe various aspects of neurological diseases. ND directly imports the development version of OGMS, which uses BFO 2. Term development in ND has primarily extended the OGMS terms 'disease', 'diagnosis', 'disease course', and 'disorder'. We have imported and utilize over 700 classes from related ontology efforts including the Foundational Model of Anatomy, Ontology for Biomedical Investigations, and Protein Ontology. ND terms are annotated with ontology metadata such as a label (term name), term editors, textual definition, definition source, curation status, and alternative terms (synonyms). Many terms have logical definitions in addition to these annotations. Current development has focused on the establishment of the upper-level structure of the ND hierarchy, as well as on the representation of Alzheimer's disease, multiple sclerosis, and stroke. The ontology is available as a version-controlled file at along with a discussion list and an issue tracker. ND seeks to provide a formal foundation for the representation of clinical and research data

  5. Neurologic Diseases and Sleep. (United States)

    Barone, Daniel A; Chokroverty, Sudansu


    Sleep disorders and neurologic illness are common and burdensome in their own right; when combined, they can have tremendous negative impact at an individual level as well as societally. The socioeconomic burden of sleep disorders and neurologic illness can be identified, but the real cost of these conditions lies far beyond the financial realm. There is an urgent need for comprehensive care and support systems to help with the burden of disease. Further research in improving patient outcomes in those who suffer with these conditions will help patients and their families, and society in general. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Neurologic Complications in Pregnancy. (United States)

    Cuero, Mauricio Ruiz; Varelas, Panayiotis N


    Pregnant women are subject to the same complications as the general population, as well to specific neurologic complications associated with pregnancy, such as preeclampsia or eclampsia. The hormonal and physiologic changes during pregnancy lead to altered incidences of these complications, which usually present during the late period of pregnancy, labor, or the puerperium. In addition, the treatment of these conditions is different from that of nonpregnant women, because special attention is paid to avoid any abnormalities or death of the fetus. This article discusses the most common of these neurologic complications. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. The neurology literature 2016. (United States)

    Khoujah, Danya; Chang, Wan-Tsu W; Abraham, Michael K


    Emergency neurology is a complex and rapidly changing field. Its evolution can be attributed in part to increased imaging options, debates about optimal treatment, and simply the growth of emergency medicine as a specialty. Every year, a number of articles published in emergency medicine or other specialty journals should become familiar to the emergency physician. This review summarizes neurology articles published in 2016, which the authors consider crucial to the practice of emergency medicine. The articles are categorized according to disease process, with the understanding that there can be significant overlap among articles. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. [Nutritional and metabolic aspects of neurological diseases]. (United States)

    Planas Vilà, Mercè


    The central nervous system regulates food intake, homoeostasis of glucose and electrolytes, and starts the sensations of hunger and satiety. Different nutritional factors are involved in the pathogenesis of several neurological diseases. Patients with acute neurological diseases (traumatic brain injury, cerebral vascular accident hemorrhagic or ischemic, spinal cord injuries, and cancer) and chronic neurological diseases (Alzheimer's Disease and other dementias, amyotrophic lateral sclerosis, Parkinson's Disease) increase the risk of malnutrition by multiple factors related to nutrient ingestion, abnormalities in the energy expenditure, changes in eating behavior, gastrointestinal changes, and by side effects of drugs administered. Patients with acute neurological diseases have in common the presence of hyper metabolism and hyper catabolism both associated to a period of prolonged fasting mainly for the frequent gastrointestinal complications, many times as a side effect of drugs administered. During the acute phase, spinal cord injuries presented a reduction in the energy expenditure but an increase in the nitrogen elimination. In order to correct the negative nitrogen balance increase intakes is performed with the result of a hyper alimentation that should be avoided due to the complications resulting. In patients with chronic neurological diseases and in the acute phase of cerebrovascular accident, dysphagia could be present which also affects intakes. Several chronic neurological diseases have also dementia, which lead to alterations in the eating behavior. The presence of malnutrition complicates the clinical evolution, increases muscular atrophy with higher incidence of respiratory failure and less capacity to disphagia recuperation, alters the immune response with higher rate of infections, increases the likelihood of fractures and of pressure ulcers, increases the incapacity degree and is an independent factor to increase mortality. The periodic nutritional

  9. Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China (United States)

    Mahmood, Omar Abdulmonem; Jiang, Xinmei; Zhang, Qi


    The relative frequencies of different subtypes of limb-girdle muscular dystrophies vary widely among different populations. We estimated the percentage of limb-girdle muscular dystrophy subtypes in Chinese people based on 68 patients with limb-girdle muscular dystrophy from the Myology Clinic, Neurology Department, First Hospital of Jilin University, China. A diagnosis of calpainopathy was made in 12 cases (17%), and dysferlin deficiency in 10 cases (15%). Two biopsies revealed α-sarcoglycan deficiency (3%), and two others revealed a lack of caveolin-3 (3%). A diagnosis of unclassified limb-girdle muscular dystrophy was made in the remaining patients (62%). The appearances of calpain 3- and dysferlin-deficient biopsies were similar, though rimmed vacuoles were unique to dysferlinopathy, while inflammatory infiltrates were present in both these limb-girdle muscular dystrophy type 2D biopsies. Macrophages were detected in seven dysferlinopathy biopsies. The results of this study suggest that the distribution of limb-girdle muscular dystrophy subtypes in the Han Chinese population is similar to that reported in the West. The less necrotic, regenerating and inflammatory appearance of limb-girdle muscular dystrophy type 2A, but with more lobulated fibers, supports the idea that calpainopathy is a less active, but more chronic disease than dysferlinopathy. Unusual features indicated an extended limb-girdle muscular dystrophy disease spectrum. The use of acid phosphatase stain should be considered in suspected dysferlinopathies. To the best of our knowledge, this is the first report to define the relative proportions of the various forms of limb-girdle muscular dystrophy in China, based on protein testing. PMID:25206500

  10. Bony injuries in homicide cases (1994-2014). A retrospective study. (United States)

    Flieger, Alexander; Kölzer, Sarah C; Plenzig, Stefanie; Heinbuch, Sara; Kettner, Mattias; Ramsthaler, Frank; Verhoff, Marcel A


    Even when human skeletal remains are found in contexts indicative of body disposal after homicide, none of the bones may manifest injuries. When skeletons are incomplete, there are two possibilities, the injured bones are missing or none were injured. This leads to the question how frequently bones are injured during homicide, where the injuries tend to be placed, and whether the frequency of injury is related to the type of homicide. To answer these questions, the postmortem reports from all autopsies performed for homicide victims at the Institute of Legal Medicine at the University Hospital in Frankfurt am Main, Germany, between 1994 and 2014, were retrospectively evaluated for bony injuries discovered during autopsy. In 90 cases, a preliminary postmortem computed tomography (pmCT) examination had been performed. The cases were categorized into the following five groups by type of fatal trauma: blunt force, sharp force, gunshot injury, strangulation, or other. In total, the postmortem reports for 897 homicides (527 male, 370 female) were evaluated. The number of victims per trauma category were sharp force, 309; blunt force, 179; gunshot injury, 242; strangulation, 92; and other, 75. Bony injuries had been reported in 70.9 % of the homicides. The "gunshot" category contained the highest proportion of victims with bony injuries (92.6 %). With 80.4 %, the second-highest proportion of victims with bony injuries was in the "blunt force" category, followed by 66.3 % of victims in the "sharp force" group. In contrast, with 53.3 %, the second-lowest proportion of victims with bony injuries was in the "strangulation" category, which contained a preponderance of female victims, followed by 17.3 % of victims with bony injuries in the "other" category. Bony injuries thus occurred in the majority of homicides. Forensic osteological analysis should, therefore, always be performed on badly decomposed human remains. Where necessary, the additional use of visualization

  11. Neurological aspects of eclampsia

    Directory of Open Access Journals (Sweden)

    Jovanović Dejana


    Full Text Available The difficult types of preeclampsia and eclampsia are presented with the neurological symptoms. The break of cerebral autoregulation mechanism plays the most important role in pathogenesis of cerebral vasospasm. Nevertheless eclampsia isn’t just an ordinary hypertensive encephalopathy because other pathogenic mechanisms are involved in its appearance. The main neuropathologic changes are multifocal vasogenic edema, perivascular multiple microinfarctions and petechial hemorrhages. Neurological clinical manifestations are convulsions, headache, visual disturbances and rarely other discrete focal neurological symptoms. Eclampsia is a high-risk factor for onset of hemorrhagic or ischemic stroke. This is a reason why neurological diagnostic tests are sometimes needed. The method of choice for evaluation of complicated eclampsia is computerized brain topography that shows multiple areas of hypodensity in occipitoparietal regions. These changes are focal vasogenic cerebral edema. For differential diagnosis of eclampsia and stroke other diagnostic methods can be used - fundoscopic exam, magnetic resonance brain imaging, cerebral angiography and cerebrospinal fluid exam. The therapy of eclampsia considers using of magnesium sulfate, antihypertensive, anticonvulsive and antiedematous drugs.

  12. Wikipedia and neurological disorders

    NARCIS (Netherlands)

    Brigo, Francesco; Igwe, Stanley C.; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, WM


    Our aim was to evaluate Wikipedia page visits in relation to the most common neurological disorders by determining which factors are related to peaks in Wikipedia searches for these conditions. Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a

  13. Astroglia in neurological diseases

    Czech Academy of Sciences Publication Activity Database

    Verkhratsky, Alexei; Rodríguez Arellano, Jose Julio; Parpura, V.


    Roč. 8, č. 2 (2013), s. 149-158 ISSN 1479-6708 R&D Projects: GA ČR(CZ) GAP304/11/0184; GA ČR GA309/09/1696 Institutional support: RVO:68378041 Keywords : amyotrophic lateral sclerosis * Alzheimer's disease * Alexander disease Subject RIV: FH - Neurology

  14. Lesiones musculares en el deporte. Muscular injuries in sport.


    Jiménez Díaz, José Fernando


    ResumenDurante la práctica de la actividad física hay una gran incidencia de lesiones musculares, si bien se han llevado a cabo pocos estudios clínicos sobre el tratamiento y la resolución de las mismas. Desde el punto de vista etiopatogénico, hay que señalar que la incidencia de lesión es mayor en aquellos músculos poliarticulares en condiciones de acumulación de fatiga y con condiciones ambientales desfavorables. La clasificación de las lesiones musculares permite distinguir entre aquellas ...

  15. Bilateral bony fusion around the supraspinatus muscle inducing muscle hypoplasia and shoulder pain

    Energy Technology Data Exchange (ETDEWEB)

    Son, YeNa; Jin, Wook; Park, So Young [Kyung Hee University Hospital at Gangdong, Department of Radiology, 892, Dongnam-ro, Gangdong-gu, Seoul (Korea, Republic of); Ryu, Kyung Nam; Park, Ji Seon [Kyung Hee University Hospital, Department of Radiology, 23 Kyunghee-daero, Dongdaemun-gu, Seoul (Korea, Republic of)


    We describe the case of a 30-year-old man who developed chronic bilateral shoulder pain that relapsed and remitted over the course of 1 year. The patient was diagnosed with congenital shoulder fusion anomalies. The right shoulder showed anomalous accessory articulation between the distal third of the clavicle and the acromion along with normal articulation of the shoulder on CT. At the left shoulder, bony fusions were present between the distal portion of the clavicle, the acromion, and the coracoid process, and between the coracoid process, upper portion of the glenoid, and upper body of the scapula, which formed a bony canal and was responsible for hypoplasia of the supraspinatus muscle on CT and MRI. To our knowledge, this is the first description of such congenital shoulder anomalies with extreme bony fusion and is an illustrative example of how imaging may be used to differentiate fusion from other congenital abnormalities of the shoulder to aid diagnosis. (orig.)

  16. Severe bony ankylosis of the temporomandibular joint on one side and contralateral adhesion: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Ji Young [Dept. of Oral and Maxillofacial Surgery, Jeju National University Hospital, Jeju National University School of Medicine, Jeju (Korea, Republic of); Kim, Seong Gon; Choi, Hang Moon [School of Dentistry, Gangneung-Wonju National University, Gangneung (Korea, Republic of); Kim, Hyun Jung [Dept. of Anesthesiology and Pain Medicine, Jeju National University School of Medicine, Jeju (Korea, Republic of)


    Bony fusion between the mandibular condyle and skull base involves temporomandibular joint (TMJ) bony ankylosis. This condition might originate from trauma, infection, or systemic disease. TMJ adhesion can develop after synovial damage. Both TMJ ankylosis and adhesion lead to functional impairment and pain. Here, we present a case of a 50-year-old female who had bony ankylosis of the right TMJ and adhesion of the left TMJ. She had otitis media in the right ear. A large mass in the right TMJ was observed on computed tomograph. Magnetic resonance image showed a large fused bone mass with normal bone marrow in the right TMJ and flattening of the condyle with a thin disk in the left TMJ. Gap arthroplasty with temporal fascia was performed on the right TMJ, and discectomy, high condylectomy, and coronoidectomy were performed on the left TMJ. During a 2-year follow-up after surgery, the patient had no recurrence.

  17. An Unusual Presentation of Frontal Bony Defect with Pneumocephalus and its Management in an Elderly Patient

    Directory of Open Access Journals (Sweden)

    Shih-Tong Chen


    Full Text Available Pneumocephalus can be caused by neurosurgical procedures, endoscopic sinus surgery, craniofacial trauma, tumors of the skull base, frontal sinus cranialization, and can rarely occur spontaneously. The treatment options are conservative treatment, craniotomy, osteoplastic flap surgery of the frontal sinus, and endoscopic endonasal surgery. We herein present the case of a 61-year-old man with a frontal sinus bony defect with pneumocephalus caused by craniotomy who presented atypically with left facial cellulitis, followed by meningitis and seizures. This bony defect was successfully repaired with endoscopic modified Lothrop procedure (EMLP. At 18 months' follow-up after the surgery, neither obvious postoperative complications nor signs of pneumocephalus were noted. EMLP offered a less invasive, safer, and effective way to repair the frontal bony defect in our elderly patient.

  18. Transitional carcinoma with extensive invasion of the bony orbit in a dog

    Directory of Open Access Journals (Sweden)

    S.C.C.S. Paiva


    Full Text Available A 12-year-old male English Pointer was examined due to a soft-tissue swelling at the medial canthus of the right orbital region, which was causing facial deformity. The dog had epiphora, purulent nasal discharge, epistaxis, dyspnea, and progressive weight loss. An intraoral mass was observed near the right maxillary premolars. Neoplastic disease was diagnosed based on ancillary tests, which included blood work, skull and intraoral radiographs, ocular ultrasonography and computed tomography. Histopathology revealed transitional carcinoma involving the nasal and oral cavities, maxilla, bony orbit and retrobulbar space. Nasal tumors represent approximately 2% of all tumors diagnosed in this species. Transitional carcinoma is the second most common type of malignant epithelial tumor in the nasal sinuses. This case illustrates the extensive destruction of the soft and bony tissues of the face, including the bony orbit that this type of tumor can cause.

  19. Bony morphology of the hip in professional ballet dancers compared to athletes. (United States)

    Mayes, Susan; Ferris, April-Rose; Smith, Peter; Garnham, Andrew; Cook, Jill


    To compare hip bony morphology between ballet dancers and a sporting control group and to determine the relationship with hip pain. Thirty-three professional ballet dancers and 33 age- and sex-matched athletes completed questionnaires, including the Copenhagen Hip and Groin Outcome Score (HAGOS), and underwent clinical testing and 3.0-T magnetic resonance imaging to measure acetabular coverage with lateral centre edge angles, femoral head-neck junction concavity with alpha angles at anterior and superior positions, femoral neck-shaft angles, and acetabular version angles. Bony morphological measures fell within normal ranges. Dancers had higher neck-shaft angles (dancers 134.6 ± 4.6°/athletes130.8 ± 4.7°, p = 0.002), lower acetabular version angles (13.5 ± 4.7°/17.1 ± 4.7°, p = 0.003), lower superior alpha angles (38.9 ± 6.9°/46.7 ± 10.6°, p ballet dancers have hip bony morphology that differentiates them from athletes. Hip pain correlated poorly with bony morphology. • Ballet dancers have hip bony morphology that may allow extreme hip motion. • Morphological parameter means fell within normal reference intervals in dancers. • Bony morphology correlates poorly with hip pain. • The risk of hip injury due to abnormal morphology requires prospective studies.

  20. How Do People Cope with Muscular Dystrophy? (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Muscular Dystrophy: Other FAQs Basic information for topics, such as “ ... in this section. How do people cope with muscular dystrophy (MD)? Although MD presents many challenges in many ...

  1. What Are the Treatments for Muscular Dystrophy? (United States)

    ... Pinterest Email Print What are the treatments for muscular dystrophy? No treatment is currently available to stop or reverse any form of muscular dystrophy (MD). Instead, certain therapies and medications aim to ...

  2. The neurology of proverbs. (United States)

    Van Lancker, D


    Although proverb tests are commonly used in the mental status examination surprisingly little is known about either normal comprehension or the interpretation of proverbial expressions. Current proverbs tests have conceptual and linguistic shortcomings, and few studies have been done to investigate the specific effects of neurological and psychiatric disorders on the interpretation of proverbs. Although frontal lobes have traditionally been impugned in patients who are "concrete", recent studies targeting deficient comprehension of non literal language (e.g. proverbs, idioms, speech formulas, and indirect requests) point to an important role of the right hemisphere (RH). Research describing responses of psychiatrically and neurologically classified groups to tests of proverb and idiom usage is needed to clarify details of aberrant processing of nonliteral meanings. Meanwhile, the proverb test, drawing on diverse cognitive skills, is a nonspecific but sensitive probe of mental status.

  3. The Neurology of Proverbs

    Directory of Open Access Journals (Sweden)

    Diana Van Lancker


    Full Text Available Although proverb tests are commonly used in the mental status examination surprisingly little is known about either normal comprehension or the interpretation of proverbial expressions. Current proverbs tests have conceptual and linguistic shortcomings, and few studies have been done to investigate the specific effects of neurological and psychiatric disorders on the interpretation of proverbs. Although frontal lobes have traditionally been impugned in patients who are “concrete”, recent studies targeting deficient comprehension of non literal language (e.g. proverbs, idioms, speech formulas, and indirect requests point to an important role of the right hemisphere (RH. Research describing responses of psychiatrically and neurologically classified groups to tests of proverb and idiom usage is needed to clarify details of aberrant processing of nonliteral meanings. Meanwhile, the proverb test, drawing on diverse cognitive skills, is a nonspecific but sensitive probe of mental status.

  4. Vaccination and neurological disorders

    Directory of Open Access Journals (Sweden)

    Anastasia Gkampeta


    Full Text Available Active immunization of children has been proven very effective in elimination of life threatening complications of many infectious diseases in developed countries. However, as vaccination-preventable infectious diseases and their complications have become rare, the interest focuses on immunization-related adverse reactions. Unfortunately, fear of vaccination-related adverse effects can led to decreased vaccination coverage and subsequent epidemics of infectious diseases. This review includes reports about possible side effects following vaccinations in children with neurological disorders and also published recommendations about vaccinating children with neurological disorders. From all international published data anyone can conclude that vaccines are safer than ever before, but the challenge remains to convey this message to society.

  5. [Vitamin D and neurology]. (United States)

    Thouvenot, Éric; Camu, William


    Vitamin D deficiency is associated with a higher risk of multiple sclerosis and also with a higher relapse rate as well as a higher number of MRI lesions. Elders with vitamin D deficiency have worse cognitive performance. Vitamin D deficiency is a risk factor for developing Alzheimer's disease. Ischemic stroke are more frequent and more severe in patients with low vitamin D levels. Carotid atherosclerosis is more frequent and more severe in patients with vitamin D deficiency. Vitamin D deficiency is associated with a higher risk and worse prognosis of Parkinson's disease. In the different neurological disorders discussed herein, gene polymorphisms that could alter vitamin D metabolism are also associated with a higher incidence or a worse disease prognosis. Despite the links between vitamin D deficiency and the risks of developing neurological disorders, there is, to date, no proof that supplementation could alter the course of these diseases. Copyright © 2013. Published by Elsevier Masson SAS.

  6. Neurological legal disability

    Directory of Open Access Journals (Sweden)

    Radhakrishna H


    Full Text Available Neurological disorders with a prolonged course, either remediable or otherwise are being seen increasingly in clinical practice and many such patients are young and are part of some organization or other wherein their services are needed if they were healthy and fit. The neurologists who are on the panel of these organizations are asked to certify whether these subjects are fit to work or how long they should be given leave. These certificates may be produced in the court of law and may be subjected to verification by another neurologist or a medical board. At present there are no standard guidelines in our country to effect such certification unlike in orthopedic specialty or in ophthalmology. The following is a beginning, based on which the neurologist can certify the neurological disability of such subjects and convey the same meaning to all neurologists across the country.

  7. A case of atlas assimilation: description of bony and soft structures. (United States)

    Ciołkowski, Maciej K; Krajewski, Paweł; Ciszek, Bogdan


    A case of atlas assimilation revealed during serial study of suboccipital region is presented. The specimen was harvested from the body of 31-year-old woman. Images of the computed tomography scans are correlated with classic dissection. Asymmetrical bony assimilation is accompanied by asymmetrical development of the suboccipital musculature. In the presented case, the atlantic segments of both vertebral arteries preserved their usual course between bony elements derived from the atlas and proatlas. Development of the soft tissues must be influenced by similar factors as development of the skeleton. Detailed radiologic studies, possibly with volumetric reconstructions, are necessary in cases of atlas assimilation before surgical interventions in the region of craniovertebral junction.

  8. Metabolismo muscular en el ejercicio


    Martín Martín, Laura


    Fundamentos: Cada vez son más las personas que realizan algún tipo de actividad física, pero pocas son las que poseen un verdadero conocimiento de los procesos que se desencadenan a nivel muscular y la influencia de la alimentación en la misma. El objetivo de este trabajo es ofrecer información de manera general sobre el metabolismo muscular. Métodos: Revisión bibliográfica de artículos y documentos consultando bases de datos y libros. La mayor parte del análisis ha sido ext...





    La distrofia muscular de Duchenne (DMD) es la distrofia muscular más frecuente en niños. Se caracteriza por degeneración muscular progresiva que lleva a atrofia muscular, invalidez y muerte alrededor de la 2da década de vida. El ratón mdx ha sido ampliame 97p.

  10. Heat Generation During Bony Decompression of Lumbar Spinal Stenosis Using a High-Speed Diamond Drill with or without Automated Irrigation and an Ultrasonic Bone-Cutting Knife: A Single-Blinded Prospective Randomized Controlled Study. (United States)

    Matthes, Marc; Pillich, Dirk Thomas; El Refaee, Ehab; Schroeder, Henry W S; Müller, Jan-Uwe


    The main objective of the present prospective, randomized, single-blinded controlled study was to measure heat during bony decompression of lumbar spinal stenosis with high-speed drills and an ultrasonic bone-cutting knife. Ninety patients diagnosed with lumbar spinal stenosis were included in this study and randomized for lumbar spinal canal decompression using either a high-speed drill with automatic irrigation, high-speed drill with manual irrigation, or an ultrasonic bone-cutting knife with automatic irrigation (USBCD). For evaluation of group homogeneity, a visual analog scale pain score and neurologic findings were measured preoperatively and postoperatively. Temperatures during bony decompression were measured using a forward-looking infrared camera system. Clinical results among the 3 groups did not differ in pain reduction, improvement of neurologic findings, or the rate of complications. However, significantly lower values were found for absolute and mean maximal temperatures during bony decompression in the USBCD group compared with the groups of patients who received the high-speed drill with automatic irrigation and the high-speed drill with manual irrigation, indicating this technique to be less aggressive in terms of thermal induction of bone necrosis. USBCD allows more precise bone removal compared with high-speed drills, and despite increased device time, no significant difference in the overall decompression time was observed. All methods examined produced short temperature peaks with possible, at least temporary, damage to bone and neural tissue. Automatic irrigation was associated with lower heat development compared with manual irrigation. Despite evidence of critical temperatures, no clinical correlation (e.g., neurologic deficits) was encountered in this study. Clinically, all 3 methods presented equally good results. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Neurologic complications of alcoholism. (United States)

    Noble, James M; Weimer, Louis H


    This review serves as an overview of neurologic conditions associated with alcohol abuse or withdrawal, including epidemiology, clinical symptoms, diagnostic approach, and treatment. Frequent alcohol abuse and frank alcoholism are very common among adults in the United States. Although rates decline with each decade, as many as 10% of the elderly drink excessively. Given the ubiquitous nature of alcoholism in society, its complications have been clinically recognized for generations, with recent advances focusing on improved understanding of ethanol's biochemical targets and the pathophysiology of its complications. The chronic effects of alcohol abuse are myriad and include neurologic complications through both direct and indirect effects on the central and peripheral nervous systems. These disorders include several encephalopathic states related to alcohol intoxication, withdrawal, and related nutritional deficiencies; acute and chronic toxic and nutritional peripheral neuropathies; and myopathy. Although prevention of alcoholism and its neurologic complications is the optimal strategy, this article reviews the specific treatment algorithms for alcohol withdrawal and its related nutritional deficiency states.

  12. Palliative care and neurology (United States)

    Boersma, Isabel; Miyasaki, Janis; Kutner, Jean


    Palliative care is an approach to the care of patients and families facing progressive and chronic illnesses that focuses on the relief of suffering due to physical symptoms, psychosocial issues, and spiritual distress. As neurologists care for patients with chronic, progressive, life-limiting, and disabling conditions, it is important that they understand and learn to apply the principles of palliative medicine. In this article, we aim to provide a practical starting point in palliative medicine for neurologists by answering the following questions: (1) What is palliative care and what is hospice care? (2) What are the palliative care needs of neurology patients? (3) Do neurology patients have unique palliative care needs? and (4) How can palliative care be integrated into neurology practice? We cover several fundamental palliative care skills relevant to neurologists, including communication of bad news, symptom assessment and management, advance care planning, caregiver assessment, and appropriate referral to hospice and other palliative care services. We conclude by suggesting areas for future educational efforts and research. PMID:24991027

  13. Neurologic Complications of Celiac Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available Patients with celiac disease (CD [n=l 11] and controls (n=211 were questioned regarding neurologic disorders, their charts were reviewed, and they received neurologic evaluations, including brain imaging or EEG if indicated, in a study of neurologic complications of CD at Carmel Medical Center, Technion-Israel Institute of Technology, Haifa, Israel.

  14. African Journal of Neurological Sciences

    African Journals Online (AJOL)

    African Journal of Neurological Sciences (AJNS) is owned and controlled by the Pan African Association of Neurological Sciences (PAANS). The AJNS's aim is to publish scientific papers of any aspects of Neurological Sciences. AJNS is published quarterly. Articles submitted exclusively to the AJNS are accepted if neither ...

  15. Porcine models of muscular dystrophy (United States)

    Duchenne muscular dystrophy is a progressive, fatal, X-linked disease caused by a failure to accumulate the cytoskeletal protein, dystrophin. This disease is modeled by a variety of animal models including several fish models, mice, rats, and dogs. While these models have contributed substantially t...

  16. Glucocorticoids for Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available Investigators at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, and other centers in the UK, conducted a prospective longitudinal study across 17 neuromuscular centers in the UK of 360 boys aged 3-15 years with Duchenne muscular dystrophy who were treated with daily or intermittent (10 days on/10 days off prednisolone for a mean duration of 4 years.

  17. Perioperative complications of scoliosis surgery in patients with Duchenne muscular dystrophy and spinal muscular atrophy, focussing on wound healing disorders. (United States)

    Burow, Mareike; Forst, Raimund; Forst, Jürgen; Hofner, Benjamin; Fujak, Albert


    Patients with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA), both neuromuscular diseases, sustain spinal scoliosis in the course of their disease. To reduce the concomitant major morbidity and to improve their quality of life, patients require surgical spine stabilization. This can lead to complications like respiratory, cardiac or neurological complications or wound healing disorders (WHD). To find out the different complexities and risk factors increasing the chance to develop a WHD, the inpatient database was analyzed. We performed a retrospective statistical study. Therefore, we analyzed the inpatient database of 180 patients (142 DMD and 38 SMA patients). The focus was on WHD. To figure out the risk factors leading to WHD, we conducted a logistic regression. Cardiac complications occurred most frequently, followed by pulmonary complications and neurological lesions. Fifty-seven out of 180 patients developed a WHD. In 23 cases the WHD was aseptic, in the other 34 cases dermal organisms, Pseudomonas species and intestinal organisms were responsible. By means of the logistic regression, we were able to identify two more risk factors, in addition to diagnosis and gender, for developing a WHD in our patients: the year of surgery and the direction of pelvic tilt. Most common complications following scoliosis surgery are respiratory and cardiac complications. WHD is a severe complication that implies a prolonged therapy. Some risk factors for developing WHD could be identified in this analysis. Specifically, these were the date of surgery and the direction of pelvic tilt.

  18. [Guideline on the use of corticosteroids in Duchenne muscular dystrophy from paediatric neurologists, neurologists and rehabilitation physicians

    NARCIS (Netherlands)

    Groot, I.J.M. de


    A guideline on the treatment of boys with muscular dystrophy with corticosteroids has been written and is available from the Dutch patients' organization. The guideline has been approved by the Dutch Societies of Neurology, Rehabilitation and Paediatrics. Based on the available literature the advice

  19. Relationship between levator ani and bony pelvis morphology and clinical grade of prolapse in women. (United States)

    Li, Ran; Song, Yanfeng; Ma, Ming


    The aim of this study was to assess the morphological features of the levator ani and bony pelvis in women with different grades of prolapse. Ninety Chinese women with different grades of uterine prolapse were studied, 18 in each stage of prolapse from I to IV, and 18 asymptomatic nulliparous volunteers as normal controls. Three-dimensional (3D) models that included the pelvic bones, levator ani, pubic symphysis, sacrum, and coccyx were generated from magnetic resonance (MR) images. The width and length of the levator hiatus and levator symphysis gap, the width of the iliococcygeus, and the iliococcygeal angle were measured to quantify levator ani morphology; the intertuberous diameter, interspinous diameter, subpubic angle, and pubococcygeal line were measured to characterize the morphology of the bony pelvis. Four patterns of levator ani morphology among women with and without prolapse were distinguished. Among the bony pelvis parameters, no measurement differed significantly between the subjects with prolapse and normal controls, or among subjects with different grades of prolapse. There were significant differences in the width and length of the levator hiatus and levator symphysis gap between women with prolapse and normal controls. Our pilot data help to elucidate bony pelvis and levator ani morphology in women with and without pelvic organ prolapse. In contrast to the iliococcygeus muscle, changes in the morphological features of the pubovisceral muscle are more likely to accompany prolapse. © 2015 Wiley Periodicals, Inc.

  20. Condylar bony changes in patients with temporomandibular disorders: a CBCT study

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    Nah, Kyung Soo [Dept. of Oral and Maxillofacial Radiology, School of Dentistry, Pusan National University, Yangsan (Korea, Republic of)


    Diagnosis of osteoarthritis most commonly depends on clinical and radiographic findings. The present study attempted to observe the bony changes in temporomandibular joint (TMJ) patients from all age groups. The first-visit clinical records and cone beam computed tomography (CBCT) data of 440 TMJs from 220 consecutive TMJ patients were reviewed retrospectively. The most frequent condylar bony change observed was sclerosis (133 joints, 30.2%) followed by surface erosion (129 joints, 29.3%), flattening of the articular surface (112 joints, 25.5%), and deviation in form (58 joints, 13.2%), which included 33 TMJs in a cane-shape, 16 with a lateral or medial pole depression, 6 with posterior condylar surface flattening, and 3 with a bifid-shaped condyle. Fifty-three joints (12.0%) showed hypoplastic condyles but only 1 joint showed hyperplasia. Osteophyte was found in 35 joints (8.0%) and subcortical cyst in 24 joints (5.5%), 5 of which had surface erosion as well. One hundred nineteen joints (27.0%) had only one kind of condylar bony change, 66 joints (15.0%) had two, 52 joints (11.8%) had three, 12 joints (5.0%) had four, and 6 joints (1.4%) had five kinds of condylar bony changes at the same time. Eighty-five (65.9%) of 129 joints with surface erosion had pain recorded at the chief complaint. With more widespread use of CBCT, more specific or detailed guidelines for osteoarthritis are needed.

  1. Natural resources utilization by the Aweer in Boni-lungi and Dodori ...

    African Journals Online (AJOL)

    A study was conducted to record the utilization of Boni-Lungi and Dodori National Reserves by the Aweer community. Results indicate the procuring of a wide gamut of provisional, regulatory, cultural and supportive services from these reserves by the community ranging from wood forest products utilized in construction to ...

  2. "Sub Specie Boni": The Comfort Zone of Self-Belief--A Dimension in Counseling Offenders. (United States)

    Church, James Lee


    Claims that self-defeating behavior is a rational attempt to satisfy early, introjected messages about the type of person one is, arising from a desire for things perceived as good--sub specie boni. Examines the notion of the comfort zone, toxic shame, and therapists' responsibility to nourish acceptable joy. (RJM)

  3. Neurology and literature 2. (United States)

    Iniesta, I


    Good literary fiction has the potential to move us, extend our sense of life, transform our prospective views and help us in the face of adversity. A neurological disorder is likely to be the most challenging experience a human being may have to confront in a lifetime. As such, literary recreations of illnesses have a doubly powerful effect. Study the synergies between neurology and fictional literature with particular reference to narrative based medicine (NBM). Doctors establish boundaries between the normal and the abnormal. Taking a clinical history is an act of interpretation in which the doctor integrates the science of objective signs and measurable quantities with the art of subjective clinical judgment. The more discrepancy there is between the patient's experience with the illness and the doctor's interpretation of that disease, the less likely the doctor-patient interaction is to succeed. NBM contributes to a better discernment of the meanings, thus considering disease as a biographical event rather than just a natural fact. Drawing from their own experience with disease, writers of fiction provide universal insights through their narratives, whilst neuroscientists, like Cajal, have occasionally devoted their scientific knowledge to literary narratives. Furthermore, neurologists from Alzheimer to Oliver Sacks remind us of the essential value of NBM in the clinic. Integrating NBM (the narrative of patients) and the classic holistic approach to patients with our current paradigm of evidence based medicine represents a challenge as relevant to neurologists as keeping up with technological and scientific advances. Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  4. Computer-guided technique evaluation of the bony palate for planning individual implant placement. (United States)

    Cagimni, Pinar; Govsa, Figen; Ozer, Mehmet Asim; Kazak, Zuhal


    Different clinical problems may require a surgical approach to the dental arch, such as dentofacial orthopedics, implant-supported dental prothesis, maxillary orthodontics protraction, removable appliances, and posttraumatic dental reconstruction. The aim of this study is to analyze the dental arch size and type for supporting individual dental protheses. In this study, the reference measurements on the length of the bony palate, maxillary intercanine width, maxillary intermolar width, and the ratio of the maxillary to the palatinal surface were studied in 120 bony palates using a computer software program. The average length of the bony palate, maxilla, and palatine was measured as 104.4 ± 30.3, 40.05 ± 4.05, and 15.00 ± 3.03 mm, respectively. The right and left sides of average width of intermaxillary distances were measured as 13.75 ± 1.50 and 12.51 ± 1.50 mm, respectively. The average width of intermolar distance was calculated as 19.82 ± 1.61 mm (right side) and 18.89 ± 1.69 mm (left side), respectively. The maxillary dentitions were classified as square (17%), round-square (63.5%), round (14.4%), and round V-shaped arches (5.1%). The round-square ones showed no prominent principal component. Among the maxillary arches, the round arches were characterized by small values and round V-shaped ones with the largest values. Asymmetry between the right and the left bony palate was observed. The areas with equal bony palate on both sides were present in 64.4% of the cases, and in 33.1% of the cases, bony palate was dominant on the right. The primary principle in reconstructive treatment should be describing geometrical forms and mathematical details of the bony palate. Three-dimensional reference values relative to the dental arch may increase the success of individual treatment of surgical procedures and reduce possible complications. With the help of certain software, this research has made possible to investigate the variability of the

  5. Influence of Bony Defects on Preoperative Shoulder Function in Recurrent Anteroinferior Shoulder Instability. (United States)

    Wolke, Julia; Herrmann, Diem Anh; Krannich, Alexander; Scheibel, Markus


    Recurrent anteroinferior shoulder dislocations are often associated with bony glenoid and humeral defects. The influence of those bony lesions on the postoperative outcomes after arthroscopic shoulder stabilization procedures has been the subject of many studies. Little is known about the influence of those lesions on preoperative function. To evaluate the influence of glenoid and humeral bony defects on preoperative shoulder function in recurrent anteroinferior shoulder instability. Cross-sectional study; Level of evidence, 3. Included in the study were 90 patients (70 men, 20 women; mean age, 27.1 years; 24 patients with prior failed stabilization) with posttraumatic recurrent anteroinferior shoulder instability who underwent preoperative computed tomography (CT) of both shoulders. The glenoid index was used to measure glenoid defect on a 3-dimensional CT. Humeral head defect was measured on a 2-dimensional CT with evaluation of the Hill-Sachs quotient, product, sum, and difference. Preoperative evaluation also included the Rowe score, Constant score, Walch-Duplay score, Melbourne Instability Shoulder Score (MISS), Western Ontario Shoulder Instability Index (WOSI), and Subjective Shoulder Value (SSV). There was a weak but significant correlation of the Hill-Sachs quotient and the glenoid index with the Rowe score (P = .03, r = -0.22 and P = .03, r = 0.23, respectively). Furthermore, the Hill-Sachs product significantly correlated with the WOSI (P = .02); in particular, the physical symptoms subscore showed a significant correlation (P = .04). The glenoid index showed a significant correlation with the SSV (P shoulder instability and associated bony defects. It is recommended that clinicians use the Rowe score, WOSI, and SSV for the clinical evaluation of patients with recurrent anteroinferior shoulder instability and associated bony defects. These evaluation systems may provide an early clinical indication of bony defects. Furthermore, very poor results on these

  6. Neurological Respiratory Failure

    Directory of Open Access Journals (Sweden)

    Mohan Rudrappa


    Full Text Available West Nile virus infection in humans is mostly asymptomatic. Less than 1% of neuro-invasive cases show a fatality rate of around 10%. Acute flaccid paralysis of respiratory muscles leading to respiratory failure is the most common cause of death. Although the peripheral nervous system can be involved, isolated phrenic nerve palsy leading to respiratory failure is rare and described in only two cases in the English literature. We present another case of neurological respiratory failure due to West Nile virus-induced phrenic nerve palsy. Our case reiterates the rare, but lethal, consequences of West Nile virus infection, and the increase of its awareness among physicians.

  7. Neurological complications of chickenpox

    Directory of Open Access Journals (Sweden)

    Girija A


    Full Text Available Aim: To assess the neurological complications of chickenpox with prognosis. Background: The neurological complications occur in 0.03% of persons who get chickenpox. There is no universal vaccination against chicken pox in India. Most patients prefer alternate modalities of treatment. Hence these complications of chickenpox are likely to continue to occur. Study Design: A prospective study was conducted for 2 years (from March 2002 on the admitted cases with neurological complications after chickenpox (with rash or scar. Patients were investigated with CT/MRI, CSF study, EEG and nerve conduction studies and hematological workup. They were followed-up for 1 year and outcome assessed using modified Rankin scale. Results: The latency for the neurological complications was 4-32 days (mean: 16.32 days. There were 18 cases: 10 adults (64% and 8 children (36%. Cerebellar ataxia (normal CT/MRI was observed in 7 cases (32% (mean age: 6.85 years. One patient (6 years had acute right hemiparesis in the fifth week due to left capsular infarct. All these cases spontaneously recovered by 4 weeks. The age range of the adult patients was 13-47 years (mean: 27 years. The manifestations included cerebellar and pyramidal signs (n-4 with features of demyelination in MRI who recovered spontaneously or with methylprednisolone by 8 weeks. Patient with encephalitis recovered in 2 weeks with acyclovir. Guillain Barre syndrome of the demyelinating type (n-2 was treated with Intravenous immunoglobulin (IVIG and they had a slow recovery by a modified Rankin scale (mRs score of 3 and 2 at 6 months and 1 year, respectively. One case died after hemorrhage into the occipital infarct. There were two cases of asymmetrical neuropathy, one each of the seventh cranial and brachial neuritis. Conclusion: Spontaneous recovery occurs in post-chickenpox cerebellar ataxia. Rarely, serious complications can occur in adults. The demyelinating disorders, either of the central or peripheral

  8. Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy (United States)

    Lo, Ivan F. M.; Cherk, Sharon W. W.; Cheng, Wai Wai; Fung, Eva L. W.; Yeung, Wai Lan; Ngan, Mary; Lee, Wing Cheong; Kwong, Ling; Wong, Suet Na; Ma, Che Kwan; Tai, Shuk Mui; Ng, Grace S. F.; Wu, Shun Ping; Wong, Virginia C. N.


    The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower. PMID:28503591

  9. CAT & MAUS: A novel system for true dynamic motion measurement of underlying bony structures with compensation for soft tissue movement. (United States)

    Jia, Rui; Monk, Paul; Murray, David; Noble, J Alison; Mellon, Stephen


    Optoelectronic motion capture systems are widely employed to measure the movement of human joints. However, there can be a significant discrepancy between the data obtained by a motion capture system (MCS) and the actual movement of underlying bony structures, which is attributed to soft tissue artefact. In this paper, a computer-aided tracking and motion analysis with ultrasound (CAT & MAUS) system with an augmented globally optimal registration algorithm is presented to dynamically track the underlying bony structure during movement. The augmented registration part of CAT & MAUS was validated with a high system accuracy of 80%. The Euclidean distance between the marker-based bony landmark and the bony landmark tracked by CAT & MAUS was calculated to quantify the measurement error of an MCS caused by soft tissue artefact during movement. The average Euclidean distance between the target bony landmark measured by each of the CAT & MAUS system and the MCS alone varied from 8.32mm to 16.87mm in gait. This indicates the discrepancy between the MCS measured bony landmark and the actual underlying bony landmark. Moreover, Procrustes analysis was applied to demonstrate that CAT & MAUS reduces the deformation of the body segment shape modeled by markers during motion. The augmented CAT & MAUS system shows its potential to dynamically detect and locate actual underlying bony landmarks, which reduces the MCS measurement error caused by soft tissue artefact during movement. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Education Research: Neurology resident education (United States)

    Mayans, David; Schneider, Logan; Adams, Nellie; Khawaja, Ayaz M.; Engstrom, John


    Objective: To survey US-trained graduating neurology residents who are American Academy of Neurology members, in an effort to trend perceived quality and completeness of graduate neurology education. Methods: An electronic survey was sent to all American Academy of Neurology members graduating from US neurology residency programs in the Spring of 2014. Results: Of 805 eligible respondents, 24% completed the survey. Ninety-three percent of adult neurology residents and 56% of child neurology residents reported plans to pursue fellowship training after residency. Respondents reported a desire for additional training in neurocritical care, neuro-oncology, neuromuscular diseases, botulinum toxin injection, and nerve blocks. There remains a clear deficit in business training of neurology residents, although there was notable improvement in knowledge of coding and office management compared to previous surveys. Discussion: Although there are still areas of perceived weakness in neurology training, graduating neurology residents feel generally well prepared for their chosen careers. However, most still pursue fellowship training for reasons that are little understood. In addition to certain subspecialties and procedures, practice management remains deficient in neurology training and is a point of future insecurity for most residents. Future curriculum changes should consider resident-reported gaps in knowledge, with careful consideration of improving business training. PMID:26976522

  11. First record of eocene bony fishes and crocodyliforms from Canada's Western Arctic.

    Directory of Open Access Journals (Sweden)

    Jaelyn J Eberle

    Full Text Available BACKGROUND: Discovery of Eocene non-marine vertebrates, including crocodylians, turtles, bony fishes, and mammals in Canada's High Arctic was a critical paleontological contribution of the last century because it indicated that this region of the Arctic had been mild, temperate, and ice-free during the early - middle Eocene (∼53-50 Ma, despite being well above the Arctic Circle. To date, these discoveries have been restricted to Canada's easternmost Arctic - Ellesmere and Axel Heiberg Islands (Nunavut. Although temporally correlative strata crop out over 1,000 km west, on Canada's westernmost Arctic Island - Banks Island, Northwest Territories - they have been interpreted as predominantly marine. We document the first Eocene bony fish and crocodyliform fossils from Banks Island. PRINCIPAL FINDINGS: We describe fossils of bony fishes, including lepisosteid (Atractosteus, esocid (pike, and amiid, and a crocodyliform, from lower - middle Eocene strata of the Cyclic Member, Eureka Sound Formation within Aulavik National Park (∼76°N. paleolat.. Palynology suggests the sediments are late early to middle Eocene in age, and likely spanned the Early Eocene Climatic Optimum (EECO. CONCLUSIONS/SIGNIFICANCE: These fossils extend the geographic range of Eocene Arctic lepisosteids, esocids, amiids, and crocodyliforms west by approximately 40° of longitude or ∼1100 km. The low diversity bony fish fauna, at least at the family level, is essentially identical on Ellesmere and Banks Islands, suggesting a pan-High Arctic bony fish fauna of relatively basal groups around the margin of the Eocene Arctic Ocean. From a paleoclimatic perspective, presence of a crocodyliform, gar and amiid fishes on northern Banks provides further evidence that mild, year-round temperatures extended across the Canadian Arctic during early - middle Eocene time. Additionally, the Banks Island crocodyliform is consistent with the phylogenetic hypothesis of a Paleogene divergence

  12. Reports of cases of renal tubular acidosis with neurologic symptomes

    Directory of Open Access Journals (Sweden)

    Ghafarpour M


    Full Text Available Proximal weakness specially in extremitas is a common neurologic symptom of patients, for which the physician should consider toxic, metabolic, infectious and paraneoblastic diseases affecting muscular system as well as primary myopathies. Osteomalacia is one of the most common considerations which is treatable but disabling as its natural course. Osteomalacia is the most often due to VITD or calcium deficiency but work up is necessary to find other primary defects that cause this disease. Renal tubular acidosis is one of these primary defects and osteomalacia secondary to it dose not respond to classic treatment of osteomalacia, so specific management is necessary. In this article we report six patients who have been referred to the clinic of neurology of Imam Khomeini Hospital since 1370 to 1374 with proximal weakness for whom RTA has been diagnosed

  13. Neurological aspects of grief. (United States)

    Silva, Adriana C; de Oliveira Ribeiro, Natalia P; de Mello Schier, Alexandre R; Arias-Carrión, Oscar; Paes, Flavia; Nardi, Antonio E; Machado, Sergio; Pessoa, Tamires M


    Despite grief being a universal experience and the increased scientific attention paid to grief and bereavement in recent years, studies that seek to better understand the role of the neurological aspects of grief are still scarce. We found 5 studies that discussed the relationship between the neurological aspects of grief due to the death of a loved one. All studies showed an activation of common areas, i.e., the anterior cingulate cortex (ACC), posterior cingulate cortex (PCC), prefrontal cortex (PFC), insula and amygdala. These findings could indicate that there is a group of areas working together and responding to generate the symptomatology of grief. Because grief is a universal experience, it is essential that the necessary and effective support can be provided to those who experience the loss of someone considered important in their lives, and this requires understanding grief's manifestation, its differential diagnosis in reference to other clinical conditions, mainly psychiatric ones, and adequate forms of intervention and treatment when necessary. Proper understanding and support can help prevent the emergence of more serious health problems.

  14. Cyclosporine increases muscular force generation in Duchenne muscular dystrophy. (United States)

    Sharma, K R; Mynhier, M A; Miller, R G


    We investigated the effect of cyclosporine (CsA) on force generation in 15 boys with Duchenne muscular dystrophy (DMD) by obtaining monthly measures of tetanic force and maximum voluntary contraction (MVC) of both anterior tibial muscles. During 4 months of a natural history phase, both tetanic force and MVC declined significantly. During 8 weeks of CsA treatment (5 mg/kg/day), significantly increased tetanic force (25.8 +/- 6.6%) and MVC (13.6 +/- 4.0%) occurred within 2 weeks. The maximum mean increase during treatment was 35.2 +/- 5.9% (tetanic force) and 19.0 +/- 4.6% (MVC). Side effects from CsA, gastrointestinal and flu-like symptoms, were transient and self-limiting. Thus, as previously reported with prednisone, CsA increases muscular force generation in the anterior tibial muscles of DMD patients.

  15. Primary care perceptions of neurology and neurology services. (United States)

    Loftus, Angela M; Wade, Carrie; McCarron, Mark O


    Neurophobia (fear of neural sciences) and evaluation of independent sector contracts in neurology have seldom been examined among general practitioners (GPs). A questionnaire determined GPs' perceptions of neurology compared with other medical specialties. GP experiences of neurology services with independent sector companies and the local National Health Service (NHS) were compared. Areas of potential improvement in NHS neurology services were recorded from thematic analyses. Among 76 GPs neurology was perceived to be as interesting as other medical specialties. GPs reported less knowledge, more difficulty and less confidence in neurology compared with other medical specialties. There was a preference for a local NHS neurology service (pneurology services provided better patient satisfaction. GPs prefer local NHS neurology services to independent sector contracts. GPs' evaluations should inform commissioning of neurology services. Combating neurophobia should be an integral part of responsive commissioning. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to

  16. [Psoas muscular abscess in children]. (United States)

    Pires, A M; Reis, A G; Grisi, S J


    Symptoms of psoas muscular abscess in children are nonspecific and differential diagnosis is made among diseases included in childreńs acute hip pain syndrome, imaging tests being necessary for diagnostic confirmation. During the first semester of 1995, 48,550 children were examined in Pronto Socorro do Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, four of them diagnosed as having psoas muscular abscess (2 females and 2 males, ages varying from 1 to 12 years). All of them had nonspecific clinical features and diagnosis was confirmed by abdominal ultrasound and/or computerized tomography. Staphylococcus aureus was isolated as the etiologic agent in 3 children, findings similar to the ones in literature.

  17. Muscular atrophy in diabetic neuropathy

    DEFF Research Database (Denmark)

    Andersen, H; Gadeberg, P C; Brock, B


    Diabetic patients with polyneuropathy develop motor dysfunction. To establish whether motor dysfunction is associated with muscular atrophy the ankle dorsal and plantar flexors of the non-dominant leg were evaluated with magnetic resonance imaging in 8 patients with symptomatic neuropathy, in 8 non......-neuropathic patients and in 16 individually matched control subjects. In the neuropathic patients the muscle strength of the ankle dorsal and plantar flexors was reduced by 41 % as compared to the non-neuropathic patients (p ... confirmed that the atrophy predominated distally. We conclude that muscular atrophy underlies motor weakness at the ankle in diabetic patients with polyneuropathy and that the atrophy is most pronounced in distal muscles of the lower leg indicating that a length dependent neuropathic process explains...

  18. Congenital muscular dystrophy in Jordanian children. (United States)

    Al-Qudah, A A; Tarawneh, M


    This is a consecutive study on 28 patients who have been diagnosed as having congenital muscular dystrophy at Jordan University Hospital in the period from January 1990 to February 1997. Of 75 patients diagnosed as having muscle disease, 55 (73.3%) had muscular dystrophy. Of 55 muscular dystrophy patients, 28 (50.9%) had congenital muscular dystrophy, 11 (20%) had Duchenne muscular dystrophy, 9 (16.4%) had Becker muscular dystrophy, 4 (7.3%) had myotonic dystrophy, 2 (3.6%) had limb-girdle dystrophy, and 1 (1.8%) patient had facioscapulohumeral dystrophy. Age of onset of symptoms of congenital muscular dystrophy (hypotonia and weakness) was documented antenatally or in the first few months in the majority (92.9%) of patients. Parental consanguinity was documented in 21 (75%) of congenital muscular dystrophy cases, and family history of possible similar cases in 15 (53.6%). Congenital muscular dystrophy patients with normal cognitive milestones (n = 16; 57.1%) were slightly more common than patients with cognitive delay. In contrast to previous reports, congenital muscular dystrophy is probably more common in communities with high rates of parental consanguinity than other dystrophies. Our study adds significant support to the most recent literature on this finding.

  19. Deja vu in neurology. (United States)

    Wild, Edward


    The significance of deja vu is widely recognised in the context of temporal lobe epilepsy, and enquiry about deja vu is frequently made in the clinical assessment of patients with possible epilepsy. Deja vu has also been associated with several psychiatric disorders. The historical context of current understanding of deja vu is discussed. The literature reveals deja vu to be a common phenomenon consistent with normality. Several authors have suggested the existence of a "pathological" form of deja vu that differs, qualitatively or quantitatively, from "non-pathological" deja vu. The features of deja vu suggesting neurological or psychiatric pathology are discussed. Several neuroanatomical and psychological models of the deja vu experience are highlighted, implicating the perceptual, mnemonic and affective regions of the lateral temporal cortex, hippocampus and amygdala in the genesis of deja vu. A possible genetic basis for a neurochemical model of deja vu is discussed. Clinical approaches to the patient presenting with possible deja vu are proposed.

  20. Consciousness: A Neurological Perspective

    Directory of Open Access Journals (Sweden)

    Andrea E. Cavanna


    Full Text Available Consciousness is a state so essentially entwined with human experience, yet so difficult to conceptually define and measure. In this article, we explore how a bidimensional model of consciousness involving both level of arousal and subjective awareness of the contents of consciousness can be used to differentiate a range of healthy and altered conscious states. These include the different sleep stages of healthy individuals and the altered states of consciousness associated with neurological conditions such as epilepsy, vegetative state and coma. In particular, we discuss how arousal and awareness are positively correlated in normal physiological states with the exception of REM sleep, while a disturbance in this relationship is characteristic of vegetative state, minimally conscious state, complex partial seizures and sleepwalking.

  1. Neurology and diving. (United States)

    Massey, E Wayne; Moon, Richard E


    Diving exposes a person to the combined effects of increased ambient pressure and immersion. The reduction in pressure when surfacing can precipitate decompression sickness (DCS), caused by bubble formation within tissues due to inert gas supersaturation. Arterial gas embolism (AGE) can also occur due to pulmonary barotrauma as a result of breath holding during ascent or gas trapping due to disease, causing lung hyperexpansion, rupture and direct entry of alveolar gas into the blood. Bubble disease due to either DCS or AGE is collectively known as decompression illness. Tissue and intravascular bubbles can induce a cascade of events resulting in CNS injury. Manifestations of decompression illness can vary in severity, from mild (paresthesias, joint pains, fatigue) to severe (vertigo, hearing loss, paraplegia, quadriplegia). Particularly as these conditions are uncommon, early recognition is essential to provide appropriate management, consisting of first aid oxygen, targeted fluid resuscitation and hyperbaric oxygen, which is the definitive treatment. Less common neurologic conditions that do not require hyperbaric oxygen include rupture of a labyrinthine window due to inadequate equalization of middle ear pressure during descent, which can precipitate vertigo and hearing loss. Sinus and middle ear overpressurization during ascent can compress the trigeminal and facial nerves respectively, causing temporary facial hypesthesia and lower motor neuron facial weakness. Some conditions preclude safe diving, such as seizure disorders, since a convulsion underwater is likely to be fatal. Preventive measures to reduce neurologic complications of diving include exclusion of individuals with specific medical conditions and safe diving procedures, particularly related to descent and ascent. © 2014 Elsevier B.V. All rights reserved.

  2. History of neurologic examination books. (United States)

    Boes, Christopher J


    The objective of this study was to create an annotated list of textbooks dedicated to teaching the neurologic examination. Monographs focused primarily on the complete neurologic examination published prior to 1960 were reviewed. This analysis was limited to books with the word "examination" in the title, with exceptions for the texts of Robert Wartenberg and Gordon Holmes. Ten manuals met the criteria. Works dedicated primarily to the neurologic examination without a major emphasis on disease description or treatment first appeared in the early 1900s. Georg Monrad-Krohn's "Blue Book of Neurology" ("Blue Bible") was the earliest success. These treatises served the important purpose of educating trainees on proper neurologic examination technique. They could make a reputation and be profitable for the author (Monrad-Krohn), highlight how neurology was practiced at individual institutions (McKendree, Denny-Brown, Holmes, DeJong, Mayo Clinic authors), and honor retiring mentors (Mayo Clinic authors).

  3. Induced pluripotent stem cells for modeling neurological disorders (United States)

    Russo, Fabiele B; Cugola, Fernanda R; Fernandes, Isabella R; Pignatari, Graciela C; Beltrão-Braga, Patricia C B


    Several diseases have been successfully modeled since the development of induced pluripotent stem cell (iPSC) technology in 2006. Since then, methods for increased reprogramming efficiency and cell culture maintenance have been optimized and many protocols for differentiating stem cell lines have been successfully developed, allowing the generation of several cellular subtypes in vitro. Gene editing technologies have also greatly advanced lately, enhancing disease-specific phenotypes by creating isogenic cell lines, allowing mutations to be corrected in affected samples or inserted in control lines. Neurological disorders have benefited the most from iPSC-disease modeling for its capability for generating disease-relevant cell types in vitro from the central nervous system, such as neurons and glial cells, otherwise only available from post-mortem samples. Patient-specific iPSC-derived neural cells can recapitulate the phenotypes of these diseases and therefore, considerably enrich our understanding of pathogenesis, disease mechanism and facilitate the development of drug screening platforms for novel therapeutic targets. Here, we review the accomplishments and the current progress in human neurological disorders by using iPSC modeling for Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, spinal muscular atrophy, amyotrophic lateral sclerosis, duchenne muscular dystrophy, schizophrenia and autism spectrum disorders, which include Timothy syndrome, Fragile X syndrome, Angelman syndrome, Prader-Willi syndrome, Phelan-McDermid, Rett syndrome as well as Nonsyndromic Autism. PMID:26722648

  4. Neurological sequelae of bacterial meningitis. (United States)

    Lucas, Marjolein J; Brouwer, Matthijs C; van de Beek, Diederik


    We reported on occurrence and impact of neurological sequelae after bacterial meningitis. We reviewed occurrence of neurological sequelae in children and adults after pneumococcal and meningococcal meningitis. Most frequently reported sequelae are focal neurological deficits, hearing loss, cognitive impairment and epilepsy. Adults with pneumococcal meningitis have the highest risk of developing focal neurological deficits, which are most commonly caused by cerebral infarction, but can also be due to cerebritis, subdural empyema, cerebral abscess or intracerebral bleeding. Focal deficits may improve during clinical course and even after discharge, but a proportion of patients will have persisting focal neurological deficits that often interfere in patient's daily life. Hearing loss occurs in a high proportion of patients with pneumococcal meningitis and has been associated with co-existing otitis. Children and adults recovering from bacterial meningitis without apparent neurological deficits are at risk for long-term cognitive deficits. Early identification of neurological sequelae is important for children to prevent additional developmental delay, and for adults to achieve successful return in society after the disease. Neurological sequelae occur in a substantial amount of patients following bacterial meningitis. Most frequently reported sequelae are focal neurological deficits, hearing loss, cognitive impairment and epilepsy. Copyright © 2016 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  5. Perioperative Management of Neurological Conditions

    Directory of Open Access Journals (Sweden)

    Manjeet Singh Dhallu


    Full Text Available Perioperative care of the patients with neurological diseases can be challenging. Most important consideration is the management and understanding of pathophysiology of these disorders and evaluation of new neurological changes that occur perioperatively. Perioperative generally refers to 3 phases of surgery: preoperative, intraoperative, and postoperative. We have tried to address few commonly encountered neurological conditions in clinical practice, such as delirium, stroke, epilepsy, myasthenia gravis, and Parkinson disease. In this article, we emphasize on early diagnosis and management strategies of neurological disorders in the perioperative period to minimize morbidity and mortality of patients.

  6. Splicing Regulation in Neurologic Disease

    National Research Council Canada - National Science Library

    Licatalosi, Donny D; Darnell, Robert B


    .... It is becoming evident that alternative splicing plays a particularly important role in neurologic disease, which is perhaps not surprising given the important role splicing plays in generating...

  7. Femoral arterial puncture: comparison of using the inguinal crease and bony landmarks

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    Chung, Hwan Hoon; Ha, Jong Soo; Cha, Sang Hoon; Kim, Baek Hyun; Lee, Kee Yeol; Kim, Taik Kun; Lee, Seung Hwa; Kim, Jung Hyuck; Seol, Hae Seol [Korea University College of Medicine, Seoul (Korea, Republic of)


    We tried to compare the accuracy of using bony landmarks and inguinal crease landmarks for performing femoral artery puncture and to determine an ideal puncture site. We studied ninety consecutive patients who underwent femoral arterial puncture for performing angiogram. For the evaluation of bony landmarks, the pelvis and inguinal areas were divided into 8 zones according to 7 lines that were drawn parallel to the line drawn between the anterior superior iliac spine and the pubic tubercle. For evaluation of the inguinal crease as a landmark, the 8 zones above and 4 zones below the inguinal crease were determined. The zones were divided by 11 lines drawn parallel to the inguinal crease, and the interval between each line was 1 cm. Locations of the inguinal ligament and femoral bifurcation were recorded for every patient according to the above zones, and an ideal zone for the femoral arterial puncture was decided upon. The ideal zone was considered if the locations of all of inguinal ligaments were above the zone and the least possibility to puncture was below the femoral bifurcation. On the bony landmark, the femoral bifurcations were located at zone 3 in 1 patient (1.1%), at zone 4 in 2 patients (2.2%), at zone 5 in 3 patients (3.3%), at zone 6 in 24 patients (26.7%), and at zone 7 in 44 patients (48.9%). Inguinal ligaments were at zone 1 in 2 patient (3.0%), at zone 2 in 34 patients (50.7%), at zone 3 in 25 patients (37.3%), and at zone 4 in 6 patients (8.9%). When the inguinal creases were used as a landmark, the femoral bifurcations were located at zone 4 in 4 patients (4.4%), at zone 3 in 19 patients (21.1%). at zone 2 in 30 patients (33.3%), at zone 1 in 19 patients (21.1%), at zone -1 in 13 patients (14.4%), at zone -2 in 3 patients (3.3%) and at zone -4 in 2 patients (2.2%). Inguinal ligaments were at zone 8 in 7 patients (10.4%), at zone 7 in 11 patients (16.4%), at zone 6 in 19 patients (28.4%), at zone 5 in 20 patients (29.9%), at zone 4 in 7 patients

  8. Cannabinoids in neurology – Brazilian Academy of Neurology

    Directory of Open Access Journals (Sweden)

    Sonia M. D. Brucki


    Full Text Available The use of cannabidiol in some neurological conditions was allowed by Conselho Regional de Medicina de São Paulo and by Agência Nacional de Vigilância Sanitária (ANVISA. Specialists on behalf of Academia Brasileira de Neurologia prepared a critical statement about use of cannabidiol and other cannabis derivatives in neurological diseases.

  9. Comparative physiological selectivity of Pennsylvanian to Jurassic extinction in bony fish, sharks and invertebrates


    Vazquez, Priscilla Rose


    The end-Permian and end-Triassic extinctions coincided with flood basalt eruptions that would have released large quantities of CO2 into the atmosphere, leading to ocean warming, anoxia, and perhaps acidification. Multiple stresses present during these extinction events provide analogues for anthropogenic CO2 emissions and can help us understand which taxonomic groups will be threatened by ocean acidification and warming. Bony fish and sharks (Actinoptyergii and Chondrichthyes) have cellular ...

  10. Knee joint secondary motion accuracy improved by quaternion-based optimizer with bony landmark constraints. (United States)

    Wang, Hongsheng; Zheng, Naiqaun Nigel


    Skin marker-based motion analysis has been widely used in biomechanical studies and clinical applications. Unfortunately, the accuracy of knee joint secondary motions is largely limited by the nonrigidity nature of human body segments. Numerous studies have investigated the characteristics of soft tissue movement. Utilizing these characteristics, we may improve the accuracy of knee joint motion measurement. An optimizer was developed by incorporating the soft tissue movement patterns at special bony landmarks into constraint functions. Bony landmark constraints were assigned to the skin markers at femur epicondyles, tibial plateau edges, and tibial tuberosity in a motion analysis algorithm by limiting their allowed position space relative to the underlying bone. The rotation matrix was represented by quaternion, and the constrained optimization problem was solved by Fletcher's version of the Levenberg-Marquardt optimization technique. The algorithm was validated by using motion data from both skin-based markers and bone-mounted markers attached to fresh cadavers. By comparing the results with the ground truth bone motion generated from the bone-mounted markers, the new algorithm had a significantly higher accuracy (root-mean-square (RMS) error: 0.7 ± 0.1 deg in axial rotation and 0.4 ± 0.1 deg in varus-valgus) in estimating the knee joint secondary rotations than algorithms without bony landmark constraints (RMS error: 1.7 ± 0.4 deg in axial rotation and 0.7 ± 0.1 deg in varus-valgus). Also, it predicts a more accurate medial-lateral translation (RMS error: 0.4 ± 0.1 mm) than the conventional techniques (RMS error: 1.2 ± 0.2 mm). The new algorithm, using bony landmark constrains, estimates more accurate secondary rotations and medial-lateral translation of the underlying bone.

  11. The Importance of Accurate, Early Bony Reconstruction in Orbital Injuries with Globe Loss


    Birgfeld, Craig; Gruss, Joseph


    Patients who sustain facial fractures frequently suffer from visual disturbance. Additionally, orbital fractures often involve ocular injury, which, not infrequently, may require enucleation. Yet an anophthalmic orbit does not obviate the need for aggressive orbital fracture treatment. In fact, treatment of the sequelae of the anophthalmic orbit can be difficult and require multiple surgeries. Intraoperative use of a conformer after accurate bony reduction and orbital reconstruction with bone...

  12. Primary malignant tumours of the bony pelvis: US-guided high intensity focused ultrasound ablation. (United States)

    Wang, Yang; Wang, Wei; Tang, Jie


    The aim of this review is to evaluate the value of ultrasound (US)-guided high intensity focused ultrasound (HIFU) ablation in the treatment of primary malignant tumours of the bony pelvis. Eleven patients with primary malignant tumours of the bony pelvis received US-guided HIFU ablation. The maximum tumour size ranged from 5.6 to 25.0 cm (median 10.5 cm). Treatment was curative in four patients and palliative in seven patients. During follow-up, the effectiveness of HIFU ablation was assessed by contrast-enhanced magnetic resonance (MR). Significant coagulative necrosis was obtained in all patients after scheduled HIFU ablations; the volume ablation ratio was 86.7% ± 12.5% (range 65-100%). Complete tumour necrosis was achieved in all patients receiving curative HIFU ablation. No major complications were encountered. No patients died of local tumour progression during follow-up. US-guided HIFU ablation may be a safe and effective minimally invasive technique for the local treatment of primary malignant tumours of the bony pelvis.

  13. Anthropological analysis of projectile trauma to the bony regions of the trunk

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    Humphrey Caitlin


    Full Text Available Ballistics literature often focuses on soft tissue injures and projectile trauma to the cranium. Minimal details on the bony characteristics of projectile trauma to the thorax/abdomen regions have been published. This study aims to analyse projectile trauma to the bony trunk region including the ribs, vertebrae, scapula, sternum and the hip bone to form a better understanding of the characteristics and biomechanics of skeletal trauma caused by a projectile and contribute to the existing database on skeletal trauma caused by projectiles. Fourteen cases of documented projectile trauma to the bony regions of the trunk from the Hamman-Todd Human Osteological Collection at the Cleveland Natural History Museum, Ohio were analysed. Of the 14 individuals with gunshot wounds examined, 40 wounds occurred to the bones. Twenty- four injuries to the ribs, 1 ilium, 11 vertebrae, 3 scapulae, and 1 sternum. Fracture patterns, heaving and bevelling can be used to determine the direction of travel of the projectile which can be evident on the ribs, sternum, scapula and ilium. It is critical to understand the wounding patterns associated with projectile trauma to the torso region as this is often targeted, due to being the centre of mass.

  14. Bony surface registration of navigation system in the lateral or prone position: technical note. (United States)

    Ogiwara, Toshihiro; Goto, Tetsuya; Aoyama, Tatsuro; Nagm, Alhusain; Yamamoto, Yasunaga; Hongo, Kazuhiro


    Navigation systems have become essential tools in neurosurgery. Precise registration is indispensable for the accuracy of navigation. The rapid and precise registration by surface matching on the facial skin is possible using the landmarks of the face in the supine position. On the other hand, incomplete registration often occurs in the lateral or prone position due to the direction of the face and displacement of the skin by headpins and obscuring of the skin by the bispectral index monitor and many electrodes on the forehead as well as the eye patch. Surface matching on the occipital scalp is not suitable for registration because the shape of the occipital scalp is flat and it is compressed in the supine position when obtaining preoperative neuroimaging. To overcome this problem, the authors have developed a new method of registration designated as "bony surface registration" in which surface matching is achieved using the bony surface of the skull after exposure. Between June and December 2014, this technique was used in 23 patients and its effectiveness was examined. Registration time was markedly shortened and useful navigation was achieved due to accurate registration in all patients. This is the first report of a registration methodology for a navigation system in the lateral or prone position. This bony surface registration method is useful for navigation system image-guided surgery in the lateral or prone position.

  15. Three-dimensional computed tomography analysis on bony birth canal after bilateral periacetabular osteotomy. (United States)

    Ishimatsu, Tetsuro; Naito, Masatoshi; Kinoshita, Koichi; Ishii, Satohiro; Yamamoto, Takuaki


    Curved periacetabular osteotomy (CPO) is one of the joint preserving procedures for developmental dysplasia of the hip. CPO requires osteotomy of the medial wall of the acetabulum, which may cause narrowing of the bony birth canal and this step may result in increased risk of cesarean delivery. We analyzed the narrowest part of the bony birth canal using three-dimensional computed tomography (3D-CT) before and after bilateral CPO. Between February 2007 and March 2014, there were 29 cases of bilateral CPO in which both pre- and post-operative 3D-CT were available. Transverse diameters of the pelvic inlet, contraction, outlet, expansion, and teardrop were analyzed. Among them, the narrowest part of the bony birth canal was investigated, which being smaller than the normal lower threshold value for vaginal delivery (95 mm) was considered as a risk for cesarean delivery. The transverse diameters of both pelvic expansion and teardrop significantly decreased after CPO (both p CPO was the pelvic teardrop. In this study, 82.8% of the patients showed pelvic teardrop diameter greater than 95 mm, while that of the other patients (17.2%) were less than 95 mm. Copyright © 2017 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.

  16. Lesiones musculares en el deporte. Muscular injuries in sport.

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    Jiménez Díaz, José Fernando


    Full Text Available ResumenDurante la práctica de la actividad física hay una gran incidencia de lesiones musculares, si bien se han llevado a cabo pocos estudios clínicos sobre el tratamiento y la resolución de las mismas. Desde el punto de vista etiopatogénico, hay que señalar que la incidencia de lesión es mayor en aquellos músculos poliarticulares en condiciones de acumulación de fatiga y con condiciones ambientales desfavorables. La clasificación de las lesiones musculares permite distinguir entre aquellas que no afectan a la fascia produciéndose un sangrado dentro del mismo (intramuscular o bien si la fascia también se rompe, el sangrado se sitúa entre los diferentes músculos (intermuscular. El tratamiento de estas lesiones se realizará combinando reposo, compresión, aplicación de frío y elevación del área lesionada así como el desarrollo de un adecuado programa de readaptación funcional que permita al jugador incorporarse lo antes posible a la dinámica del equipo. En la actualidad se está llevando a cabo opciones terapéuticas con factores de crecimiento, terapia génica y células madre, si bien todavía no están lo suficientemente desarrolladas.AbstractDuring the practice of the physical activity there is a great effect of muscular injuries, though few clinical studies have been carried out on the treatment and the resolution of the same ones. Inside the reasons it is necessary to indicate that the effect of injury is major in those muscles you will polyarticulate in situation of fatigue and with environmental unfavorable conditions.The classification of the muscular injuries allows to distinguish between those that do not affect the fascia producing the bled intramuscular or if the fascia also breaks, the bled one places between the different muscles (intermuscular.The treatment will be realized combining rest, compression, application of cold and elevation of these injuries as well as the development of a program of functional

  17. Age-Related Differences in Muscular Strength and Muscular Endurance among Female Masters Swimmers. (United States)

    Dummer, Gail M.; And Others


    This study investigated age-related differences in muscular strength and muscular endurance among 73 female masters swimmers aged 24 to 71 years. While an age-related decline in muscular strength was apparent, the results failed to reveal a similar trend for endurance, suggesting that swimming influences endurance more than strength among women.…

  18. [Neurological interpretation of dreams] . (United States)

    Pareja, J A; Gil-Nagel, A


    Cerebral cortical activity is constant throughout the entire human life, but substantially changes during the different phases of the sleep-wake cycle (wakefulness, non-REM sleep and REM sleep), as well as in relation to available information. In particular, perception of the environment is closely linked to the wake-state, while during sleep perception turns to the internal domain or endogenous cerebral activity. External and internal information are mutually exclusive. During wakefulness a neuronal mechanism allows attention to focus on the environment whereas endogenous cortical activity is ignored. The opposite process is provided during sleep. The function external attention-internal attention is coupled with the two modes of brain function during wakefulness and during sleep, providing two possible cortical status: thinking and dreaming. Several neurological processes may influence the declaration of the three states of being or may modify their orderly oscillation through the sleep-wake cycle. In addition, endogenous information and its perception (dreams) may be modified. Disturbances of dreaming may configurate in different general clinical scenarios: lack of dreaming, excess of dreaming (epic dreaming), paroxysmal dreaming (epileptic), nightmares, violent dreaming, daytime-dreaming (hallucinations), and lucid dreaming. Sensorial deprivation, as well as the emergence of internal perception may be the underlying mechanism of hallucinations. The probable isomorphism between hallucinations and dreaming is postulated, analyzed and discussed.

  19. Interventional neurology: a reborn subspecialty. (United States)

    Edgell, Randall C; Alshekhlee, Amer; Yavagal, Dileep R; Vora, Nirav; Cruz-Flores, Salvador


    Neurologists have a long history of involvement in cerebral angiography; however, the roots of neurologist involvement in therapeutic endovascular procedures have not been previously documented. As outlined in this article, it has taken the efforts of several early pioneers to lay the ground work for interventional neurology, a specialty that has become one of the fastest growing neurological subspecialties. The ground work, along with a great clinical need, has allowed the modern interventional neurologist to tackle some of the most intractable diseases, especially those affecting the cerebral vasculature. The institutionalization of interventional neurology as a subspecialty was first advocated in 1995 in an article entitled, "Interventional Neurology, a subspecialty whose time has come." The institutions created in the wake of this article have provided the framework that has allowed interventional neurology to transition from "a subspecialty whose time has come" to a subspecialty that is here to stay and thrive. Copyright © 2010 by the American Society of Neuroimaging.

  20. Ethnic Differences in Bony Hip Morphology in a Cohort of 445 Professional Male Soccer Players. (United States)

    Mosler, Andrea B; Crossley, Kay M; Waarsing, Jan H; Jomaah, Nabil; Weir, Adam; Hölmich, Per; Agricola, Rintje


    Participation in high-impact athletic activities has recently been associated with a higher prevalence of cam deformity. Bony hip morphology has also emerged as an important factor in the development of hip osteoarthritis. However, it is unknown whether bony morphology differs between ethnicities in athletes participating in high-impact sports. To investigate whether the prevalence of specific bony hip morphological abnormalities differed between professional male soccer players of diverse ethnic backgrounds. Cross-sectional study; Level of evidence, 3. Professional male soccer players from an entire league attending preparticipation screening were invited to participate in this study. Ethnicity was registered, and standardized radiographs of anteroposterior pelvic and Dunn views were obtained. Cam and pincer deformity, and acetabular dysplasia were quantified using the alpha angle, triangular index, and lateral center-edge angle (LCEA). Regression analyses with generalized estimating equations were used to determine prevalence differences in bony hip morphology. A total of 445 male soccer players (890 hips; mean age ± SD, 25 ± 4.9 years) participated in the study, representing the following ethnic groups: Arabic (59%), black (24%), Persian (7%), white (6%), East Asian (2%), and other (2%). The prevalence of cam deformity (alpha angle >60°) ranged from 57.5% to 71.7% across 4 of the groups, but East Asians had a significantly lower prevalence (18.8%; P ≤ .032). A large cam deformity (alpha angle >78°) was more prevalent in white (33.3%) compared with black soccer players (17.8%; P = .041) and was absent in East Asian players. Pincer deformity (LCEA >40°) was uncommon (3%) in all ethnicities. The prevalence of acetabular dysplasia (LCEA <20°) ranged from 8.0% to 16.7%, apart from the white group, in which prevalence was only 1.9% (P = .03). The prevalence of a cam deformity and acetabular dysplasia differed between ethnicities in this cohort of professional

  1. Genetics Home Reference: Emery-Dreifuss muscular dystrophy (United States)

    ... Health Conditions Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used ...

  2. Genetics Home Reference: limb-girdle muscular dystrophy (United States)

    ... Health Conditions Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Limb-girdle muscular dystrophy is a term for a group of diseases ...

  3. Genetics Home Reference: LAMA2-related muscular dystrophy (United States)

    ... Health Conditions LAMA2-related muscular dystrophy LAMA2-related muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description LAMA2 -related muscular dystrophy is a disorder that causes weakness and wasting ( ...

  4. Rehabilitation of the muscular dystrophies. (United States)

    Pangilinan, Percival H; Hornyak, Joseph E


    The muscular dystrophies (MD) are a heterogeneous group of inherited disorders characterized by findings on muscle biopsy. In general, they feature progressive muscle wasting and weakness. In addition to the musculoskeletal system, direct and indirect effects can be seen in a variety of organ systems. These issues create challenges in patients with MD for ambulation and mobility, self-care, pain, fatigue, and community involvement. Because of its progressive nature and wide variety of pathophysiological mechanisms, patients with MD require individualized rehabilitation care. This chapter reviews specific rehabilitation needs and treatment of patients with MD. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Development of "Boni-Protect" - a yeast preparation for use in the control of postharvest diseases of apples


    Weiss, Armin; Mögel, Gudrun; Kunz, Stefan


    Postharvest pathogens cause major losses in apple production. Gloeosporium album (Pezicula alba) and Gloeosporium perennans (Pezicula malicorticis) are the main pathogens in organic fruit growing. There are several microorganisms with an antagonistic efficency against these fungi. Out of these organisms two yeast isolates have been chosen to develop the plant strengthener Boni-Protect. Boni-Protect reduced the symp-tom development of P. malicorticis, B. cinerea and P. expansum after artificia...

  6. Preimplantation genetic diagnosis of spinal muscular atrophy

    NARCIS (Netherlands)

    Dreesen, JCFM; Bras, M; de Die-Smulders, C; Dumoulin, JCM; Cobben, JM; Evers, JLH; Smeets, HJM; Geraedts, JPM

    After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly

  7. Neurological examination in small animals

    Directory of Open Access Journals (Sweden)

    Viktor Paluš


    Full Text Available This clinical review about the neurological examination in small animals describes the basics about the first steps of investigation when dealing with neurological patients. The knowledge of how to perform the neurological examination is important however more important is how to correctly interpret these performed tests. A step-by-step approach is mandatory and examiners should master the order and the style of performing these tests. Neurological conditions can be sometimes very distressing for owners and for pets that might not be the most cooperating. The role of a veterinary surgeon, as a professional, is therefore to collect the most relevant history, to examine a patient in a professional manner and to give to owners an educated opinion about the further treatment and prognosis. However neurological examinations might look challenging for many. But it is only the clinical application of neuroanatomy and neurophysiology to an every-day situation for practicing veterinarians and it does not require any specific in-to-depth knowledge. This clinical review is aimed not only to provide the information on how to perform the neurological examination but it is also aimed to appeal on veterinarians to challenge their daily routine and to start practicing on neurologically normal patients. This is the best and only way to differentiate between the normal and abnormal in a real situation.

  8. Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging. (United States)

    Trenga, Anthony P; Singla, Anuj; Feger, Mark A; Abel, Mark F


    Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. All patients aged ≤13 years (n = 75) presenting to the pediatric spine clinic from 2003-2013 with congenital bony spinal deformity and both radiographs and MRI were analyzed retrospectively for bone and neural pathology. Chi-squared analysis was used to compare groups for categorical dependent variables. Independent t tests were used for continuous dependent variables. Significance was set at p deformity patients (n = 41) had associated spinal cord anomalies on MRI. Complex bony abnormalities had a higher incidence of cord anomalies than simple abnormalities (67, 37 %; p = 0.011). Mixed deformities of segmentation and formation had a higher incidence of cord anomalies (73 %) than failures of formation (50 %) or segmentation (45 %) alone (p = 0.065). Deformities in the sacrococcygeal area had the highest rate of spinal cord anomalies (13 of 15 patients, 87 %). In 35 cases (47 %), MRI revealed additional bony anomalies that were not seen on the radiographs. As the number of bony malformations increased, we found a higher incidence of cord anomalies. Clinicians should have increased suspicion of spinal cord pathology in the presence of mixed failures of segmentation and formation.

  9. Correlation between pain and degenerative bony changes on cone-beam computed tomography images of temporomandibular joints. (United States)

    Bae, SunMee; Park, Moon-Soo; Han, Jin-Woo; Kim, Young-Jun


    The aim of this study was to assess correlation between pain and degenerative bony changes on cone-beam computed tomography (CBCT) images of temporomandibular joints (TMJs). Two hundred eighty-three temporomandibular joints with degenerative bony changes were evaluated. Pain intensity (numeric rating scale, NRS) and pain duration in patients with degenerative joint disease (DJD) were also analyzed. We classified condylar bony changes on CBCT into five types: osteophyte (Osp), erosion (Ero), flattening (Fla), subchondral sclerosis (Scl), and pseudocyst (Pse). Degenerative bony changes were the most frequent in the age groups of 10~19, 20-29, and 50~59 years. The most frequent pain intensity was "none" (NRS 0, 34.6%) followed by "annoying" (NRS 3-5, 29.7%). The most frequent condylar bony change was Fla (219 joints, 77.4%) followed by Ero (169 joints, 59.7%). "Ero + Fla" was the most common combination of the bony changes (12.7%). The frequency of erosion was directly proportional to NRS, but the frequency of osteophyte was inversely proportional. The prevalence of Ero increased from onset until 2 years and gradually decreased thereafter. The prevalence of Osp, Ero, and Pse increased with age. Osp and Ero can be pain-related variables in degenerative joint disease (DJD) patients. "Six months to 2 years" may be a meaningful time point from the active, unstable phase to the stabilized late phase of DJD.

  10. Carrier testing for spinal muscular atrophy (United States)

    Gitlin, Jonathan M.; Fischbeck, Kenneth; Crawford, Thomas O.; Cwik, Valerie; Fleischman, Alan; Gonye, Karla; Heine, Deborah; Hobby, Kenneth; Kaufmann, Petra; Keiles, Steven; MacKenzie, Alex; Musci, Thomas; Prior, Thomas; Lloyd-Puryear, Michele; Sugarman, Elaine A.; Terry, Sharon F.; Urv, Tiina; Wang, Ching; Watson, Michael; Yaron, Yuval; Frosst, Phyllis; Howell, R. Rodney


    Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer standards of care as to whether or not carrier screening for spinal muscular atrophy should be offered as part of routine reproductive care. This leaves health care providers without clear guidance. In fall 2009, a meeting was held by National Institutes of Health to examine the scientific basis for spinal muscular atrophy carrier screening and to consider the issues that accompany such screening. In this article, the meeting participants summarize the discussions and conclude that pan-ethnic carrier screening for spinal muscular atrophy is technically feasible and that the specific study of implementing a spinal muscular atrophy carrier screening program raises broader issues about determining the scope and specifics of carrier screening in general. PMID:20808230

  11. Neurological Manifestations of Dengue Infection

    Directory of Open Access Journals (Sweden)

    Guo-Hong Li


    Full Text Available Dengue counts among the most commonly encountered arboviral diseases, representing the fastest spreading tropical illness in the world. It is prevalent in 128 countries, and each year >2.5 billion people are at risk of dengue virus infection worldwide. Neurological signs of dengue infection are increasingly reported. In this review, the main neurological complications of dengue virus infection, such as central nervous system (CNS, peripheral nervous system, and ophthalmic complications were discussed according to clinical features, treatment and possible pathogenesis. In addition, neurological complications in children were assessed due to their atypical clinical features. Finally, dengue infection and Japanese encephalitis were compared for pathogenesis and main clinical manifestations.

  12. Why neurology? Factors which influence career choice in neurology. (United States)

    Albert, Dara V; Hoyle, Chad; Yin, Han; McCoyd, Matthew; Lukas, Rimas V


    To evaluate the factors which influence the decision to pursue a career in neurology. An anonymous survey was developed using a Likert scale to rate responses. The survey was sent to adult and child neurology faculty, residents and fellows, as well as medical students applying for neurology. Descriptive statistics were used to analyse the factors of influence. Respondents were subsequently categorized into pre-neurology trainees, neurology trainees, child neurologists and adult neurologists, and differences between the groups were analysed using Pearson's chi-square test. One hundred and thirty-three anonymous responses were received. The respondents were neurologists across all levels of training and practice. Across all respondents, the most common factor of high importance was intellectual content of specialty, challenging diagnostic problems, type of patient encountered and interest in helping people. Responses were similar across the groups; however, the earliest trainees cited interest in helping people as most important, while those in neurology training and beyond cite intellectual content of the specialty as most important. As trainees transition from their earliest levels of clinical experience into working as residents and faculty, there is a shift in the cited important factors. Lifestyle and financial factors seem to be the least motivating across all groups. Encouragement from peers, mentors, faculty and practicing physicians is considered high influences in a smaller number of neurologists. This may present an opportunity for practicing neurologists to make connections with medical students early in their education in an effort to encourage and mentor candidates.

  13. Spasmodic dysphonia: description of the disease and associated neurologic disorders

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    Coelho, Marina Serrato


    Full Text Available Introduction: Spasmodic dysphonia (SD is a problem that affects speech and vocalization, one of the most devastating disorders of oral communication. It is characterized by vocal quality tensaestrangulada, harshly and / or interspersed with abrupt vocal attack and a great tension in the vocal tract. The etiology of spasmodic dysphonia is unclear. Some authors point to psychogenic causes, neurological or even unknown. Objective: To assess the prevalence of muscular dystonias and other neurological symptoms in patients with ED. Method: A retrospective study of 10 cases with diagnosis of ED for symptoms and neurological disorders associated. Results: There was a significant predominance of the disease in females (9:1. The average age of onset of symptoms was 32 years, ranging between 14 and 60 years. The mean disease duration was 10 years. Among the patients, 87.5% had a diagnosis of disorders of movement made by a neurologist, including orofacial dystonias (50%, essential tremor (50% and spastic paraparesis (12%. Conclusion: The presence of movement disorders followed almost all cases of spasmodic dysphonia. More studies are needed to clarify the pathophysiological basis of disease.

  14. Neurological Diagnostic Tests and Procedures (United States)

    ... of diagnostic imaging techniques and chemical and metabolic analyses to detect, manage, and treat neurological disease. Some ... performed in a doctor’s office or at a clinic. Fluoroscopy is a type of x-ray that ...

  15. Neurological complications of underwater diving. (United States)

    Rosińska, Justyna; Łukasik, Maria; Kozubski, Wojciech


    The diver's nervous system is extremely sensitive to high ambient pressure, which is the sum of atmospheric and hydrostatic pressure. Neurological complications associated with diving are a difficult diagnostic and therapeutic challenge. They occur in both commercial and recreational diving and are connected with increasing interest in the sport of diving. Hence it is very important to know the possible complications associated with this kind of sport. Complications of the nervous system may result from decompression sickness, pulmonary barotrauma associated with cerebral arterial air embolism (AGE), otic and sinus barotrauma, high pressure neurological syndrome (HPNS) and undesirable effect of gases used for breathing. The purpose of this review is to discuss the range of neurological symptoms that can occur during diving accidents and also the role of patent foramen ovale (PFO) and internal carotid artery (ICA) dissection in pathogenesis of stroke in divers. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  16. Neurologic Complications of Smallpox Vaccination

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available Smallpox and smallpox vaccination is reviewed from the Departments of Neurology, Yale University School of Medicine, New Haven, CT, and University of New Mexico School of Medicine, Albuquerque.

  17. Neurological Complications of Bariatric Surgery. (United States)

    Goodman, Jerry Clay


    Obesity has attained pandemic proportions, and bariatric surgery is increasingly being employed resulting in turn to more neurological complications which must be recognized and managed. Neurological complications may result from mechanical or inflammatory mechanisms but primarily result from micro-nutritional deficiencies. Vitamin B12, thiamine, and copper constitute the most frequent deficiencies. Neurological complications may occur at reasonably predictable times after bariatric surgery and are associated with the type of surgery used. During the early post-operative period, compressive or stretch peripheral nerve injury, rhabdomyolysis, Wernicke's encephalopathy, and inflammatory polyradiculoneuropathy may occur. Late complications ensue after months to years and include combined system degeneration (vitamin B12 deficiency) and hypocupric myelopathy. Bariatric surgery patients require careful nutritional follow-up with routine monitoring of micronutrients at 6 weeks and 3, 6, and 12 months post-operatively and then annually after surgery and multivitamin supplementation for life. Sustained vigilance for common and rare neurological complications is essential.

  18. Neurologic disorder and criminal responsibility. (United States)

    Yaffe, Gideon


    Sufferers from neurologic and psychiatric disorders are not uncommonly defendants in criminal trials. This chapter surveys a variety of different ways in which neurologic disorder bears on criminal responsibility. It discusses the way in which a neurologic disorder might bear on the questions of whether or not the defendant acted voluntarily; whether or not he or she was in the mental state that is required for guilt for the crime; and whether or not he or she is deserving of an insanity defense. The discussion demonstrates that a just determination of whether a sufferer from a neurologic disorder is diminished in his or her criminal responsibility for harmful conduct requires equal appreciation of the nature of the relevant disorder and its impact on behavior, on the one hand, and of the legal import of facts about the psychologic mechanisms through which behavior is generated, on the other. © 2013 Elsevier B.V. All rights reserved.

  19. Bony structures related to snapping scapula: correlation to gender, side and age. (United States)

    Totlis, Trifon; Konstantinidis, George A; Karanassos, Marinos T; Sofidis, George; Anastasopoulos, Nikolaos; Natsis, Konstantinos


    This study aimed at summarizing the non-pathologic bony structures which are involved in the pathogenesis of snapping scapula and evaluate their incidence, morphology and correlation to gender, side and age. The angulation in the sagittal plane between the supraspinatus and infraspinatus portion of the medial border was measured in 140 dried scapulae. In 264 dried scapulae the medial scapular border morphology was classified into three types and the presence of the Luschka's tubercle and the teres major tubercle or process was recorded. Correlation to gender, side and age was examined using SPSS. The mean angulation between the supraspinatus and infraspinatus portion of the medial border was 154.6° ± 8.8°. Τhe medial scapular border was straight in 99 (37.5 %), convex in 135 (51.1 %) and concave in 30 bones (11.4 %). The Luschka's tubercle was present in eight bones (3 %), while teres major tubercle was found in 114 scapulae (43.2 %). A teres major process was present in 18 bones (6.8 %). The process was curved towards the chest wall in nine bones (3.4 %), while in the other nine scapulae (3.4 %) it had no curvature. The non-pathologic bony structures which predispose to snapping scapula are not rare and include the concave medial scapular border, the Luschka's tubercle and the teres major process curved towards the chest wall. Orthopaedic surgeons should bear in mind these non-pathologic bony structures in order not to be overlooked during the diagnostic procedure of a snapping scapula since they usually require surgical treatment.

  20. Historical perspective of Indian neurology

    Directory of Open Access Journals (Sweden)

    Shrikant Mishra


    Full Text Available Objective: To chronicle the history of medicine and neurology in India with a focus on its establishment and evolution. Background: The history of neurology in India is divided into two periods: ancient and modern. The ancient period dates back to the mid-second millennium Before Christ (B.C. during the creation of the Ayurvedic Indian system of Medicine, which detailed descriptions of neurological disorders called Vata Vyadhi. The early 20 th century witnessed the birth of modern Indian medicine with the onset of formal physician training at the nation′s first allopathic medical colleges located in Madras (1835, Calcutta (1835 and Mumbai (1848. Prior to India′s independence from Britain in 1947, only 25 medical schools existed in the entire country. Today, there are over 355. In 1951, physicians across the field of neurology and neurosurgery united to create the Neurological Society of India (NSI. Four decades later in 1991, neurologists branched out to establish a separate organization called the Indian Academy of Neurology (IAN. Design/Methods: Information was gathered through literature review using PubMed, MD Consult, OVID, primary texts and research at various academic institutions in India. Results: Neurological disorders were first described in ancient India under Ayurveda. The transition to modern medicine occurred more recently through formal training at medical schools beginning in the 1930′s. Early pioneers and founders of the NSI (1951 include Dr. Jacob Chandy, Dr. B Ramamurthi, Dr. S. T. Narasimhan and Dr. Baldev Singh. Later, Dr. J. S. Chopra, a prominent neurologist and visionary, recognized the need for primary centers of collaboration and subsequently established the IAN (1991. The future of Neurology in India is growing rapidly. Currently, there are 1100 practicing neurologists and more than 150 post-graduate trainees who join the ranks every year. As the number of neurologists rises across India, there is an increase in

  1. Historical perspective of Indian neurology (United States)

    Mishra, Shrikant; Trikamji, Bhavesh; Singh, Sandeep; Singh, Parampreet; Nair, Rajasekharan


    Objective: To chronicle the history of medicine and neurology in India with a focus on its establishment and evolution. Background: The history of neurology in India is divided into two periods: ancient and modern. The ancient period dates back to the mid-second millennium Before Christ (B.C.) during the creation of the Ayurvedic Indian system of Medicine, which detailed descriptions of neurological disorders called Vata Vyadhi. The early 20th century witnessed the birth of modern Indian medicine with the onset of formal physician training at the nation's first allopathic medical colleges located in Madras (1835), Calcutta (1835) and Mumbai (1848). Prior to India's independence from Britain in 1947, only 25 medical schools existed in the entire country. Today, there are over 355. In 1951, physicians across the field of neurology and neurosurgery united to create the Neurological Society of India (NSI). Four decades later in 1991, neurologists branched out to establish a separate organization called the Indian Academy of Neurology (IAN). Design/Methods: Information was gathered through literature review using PubMed, MD Consult, OVID, primary texts and research at various academic institutions in India. Results: Neurological disorders were first described in ancient India under Ayurveda. The transition to modern medicine occurred more recently through formal training at medical schools beginning in the 1930's. Early pioneers and founders of the NSI (1951) include Dr. Jacob Chandy, Dr. B Ramamurthi, Dr. S. T. Narasimhan and Dr. Baldev Singh. Later, Dr. J. S. Chopra, a prominent neurologist and visionary, recognized the need for primary centers of collaboration and subsequently established the IAN (1991). The future of Neurology in India is growing rapidly. Currently, there are 1100 practicing neurologists and more than 150 post-graduate trainees who join the ranks every year. As the number of neurologists rises across India, there is an increase in the amount of

  2. Bony manifestation of rickets in a sunny city - a case report from Yazd, Iran


    Mohammadhosain Afrand; Vajiheh Modaresi


    Rickets is disease that occurs in growing bones in which defective mineralization occurs in both the bone and the cartilage of the epiphyseal growth plate, resulting in the retardation of growth and skeletal deformities. Rickets is more common in areas with less sunlight. However, this case report presents a case of the bony manifestation of rickets with the intake of vitamin D supplements in Yazd, a city in central Iran that has sunshine almost every day. A patient was referred to an out-pat...

  3. The importance of accurate, early bony reconstruction in orbital injuries with globe loss. (United States)

    Birgfeld, Craig; Gruss, Joseph


    Patients who sustain facial fractures frequently suffer from visual disturbance. Additionally, orbital fractures often involve ocular injury, which, not infrequently, may require enucleation. Yet an anophthalmic orbit does not obviate the need for aggressive orbital fracture treatment. In fact, treatment of the sequelae of the anophthalmic orbit can be difficult and require multiple surgeries. Intraoperative use of a conformer after accurate bony reduction and orbital reconstruction with bone grafts or orbital implants are essential steps to allow for prosthetic rehabilitation of the anophthalmic orbit.

  4. The Importance of Accurate, Early Bony Reconstruction in Orbital Injuries with Globe Loss (United States)

    Birgfeld, Craig; Gruss, Joseph


    Patients who sustain facial fractures frequently suffer from visual disturbance. Additionally, orbital fractures often involve ocular injury, which, not infrequently, may require enucleation. Yet an anophthalmic orbit does not obviate the need for aggressive orbital fracture treatment. In fact, treatment of the sequelae of the anophthalmic orbit can be difficult and require multiple surgeries. Intraoperative use of a conformer after accurate bony reduction and orbital reconstruction with bone grafts or orbital implants are essential steps to allow for prosthetic rehabilitation of the anophthalmic orbit. PMID:22942940

  5. Epithelial myoepithelial carcinoma in nasal cavity with bony destruction: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Ho Jin; Lee, Byung Hoon; Hwang, Yoon Joon; Kim, Su Young [Dept. of Radiology, Ilsan Paik Hospital, Inje University School of Medicine, Goyang , (Korea, Republic of)


    Epithelial-myoepithelial carcinoma (EMC) is a rare tumor that commonly involves the salivary glands. EMC arising from the nasal cavity is one of the most unusual cases. We describe a case of a 48-year-old patient who is presented with bilateral nasal obstruction for several months. Multidetector computed tomography reveals expansile, well-defined, heterogeneous enhancing soft tissue masses filling the nasal cavity with bony destruction of hard palate and maxillary alveolar ridge. The carcinoma was histologically characterized by a mixture of trabecular structure with myoepithelial cells and ductal cells, which are confirmed by electron microscopy and immunohistochemistry.

  6. The Effects of Latarjet Reconstruction on Glenohumeral Instability in the Presence of Combined Bony Defects (United States)

    Patel, Ronak Maneklal; Walia, Piyush; Gottschalk, Lionel; Jones, Morgan H.; Fening, Stephen D.; Miniaci, Anthony


    Objectives: Recurrent glenohumeral instability is often as a result of underlying bony defects in the glenoid and/or humeral head. Anterior glenoid augmentation with a bone block (i.e. Latarjet) has been recommended for glenoid bone loss in the face of recurrent instability. However, no study has investigated the effect of Latarjet augmentation in the setting of both glenoid and humeral head defects (Hill-Sachs Defects (HSD)). The purpose of this study was to evaluate the stability achieved through a Latarjet procedure in the presence of combined bony defects. Methods: Eighteen fresh-frozen cadaveric specimens were tested at all combinations of glenohumeral abduction (ABD) angles of 20°, 40°, and 60° and three external rotation (ER) levels (0°, 40°, and 80°). Each experiment comprised of anterior dislocation by translating the glenoid under a 50N medial load applied on the humerus, simulating the static load of soft tissues. Translational distance and medial-lateral displacement of the humeral head, along with horizontal reaction forces were recorded for every trial. Specimens were tested in an intact condition (no defect), different combinations of defects, and with Latarjet augmentation. The Latarjet was performed for 20% and 30% glenoid defects by transferring the specimen's coracoid process anterior to the glenoid flush with the articulating surface. Four different humeral head defects were created of sizes 6%, 19%, 31%, and 44% of humeral diameter. Repeated measures analysis of variance (ANOVA) was performed with statistical significance set at p Latarjet augmentation (Fig. 1A). However, at an arm position of 60° ABD and 80° ER increasing HSD size led to a decrease in stability for both the defect state and post-Latarjet trials (Fig. 1B). Nevertheless, Latarjet augmentation helped in regaining stability for every combination of bony defects. With a HSD size of 44% the defect state had 0% intact translation for all 18 specimens. Conclusion: Clinically

  7. On the biology of the bony otic capsule and the pathogenesis of otosclerosis

    DEFF Research Database (Denmark)

    Bloch, Sune Land


    , avoided or medically reversed as the pathogenesis remains unknown. Previously genetic research has failed to identify a specific otosclerosis-gene and earlier theories of virus infections, autoimmunity or association to generalized bone diseases have been unable to explain why otosclerosis only occurs...... in the bony otic capsule while the rest of the skeleton remains completely normal. Studies from the otopathological laboratory (RH) have revealed how the bone turnover rates increase centrifugally from a sub-normal 0.1% adjacent to the inner ear space towards a normal 10% per year at the capsular periphery...

  8. Bony fusion of the maxilla and mandible as a sequelae of noma: A rare case report

    Energy Technology Data Exchange (ETDEWEB)

    Bagewadi, Shivanand B.; Awasthi, Ujjwala Rastogi; Mody, Bharat M.; Suma, Gundareddy N.; Garg, Shruti [Dept. of Medicine and Radiology, ITS Center for Dental Studies and Research, Ghaziabad, Uttar Pradesh (Korea, Republic of)


    Noma is a gangrenous disease of the orofacial region that leads to severe facial tissue destruction and is a significant cause of death among children. With the advent of modern antibiotics and improved nutrition, children with noma may survive into adulthood, but must face the challenge of undergoing repair of the sequelae of noma. This report describes a case of bony fusion of the maxilla and mandible in a 28-year-old female patient, which was a sequelae of a childhood case of noma.

  9. Bony maturation study in young patients from odontological clinic of the UNMSM .


    Orellana M., Tomás Oriel; Departamento Académico de Estomatología Pediátrica. Facultad de Odontología de la Universidad Nacional Mayor de San Marcos, Lima, Perú.; Marengo C., Héctor; Departamento Académico de Estomatología Pediátrica. Facultad de Odontología de la Universidad Nacional Mayor de San Marcos, Lima, Perú.; Soldevilla G., Luciano; Departamento Académico de Estomatología Pediátrica. Facultad de Odontología de la Universidad Nacional Mayor de San Marcos, Lima, Perú.; Orellana M., Martín Orlando; Maestría en Estomatología. Facultad de Odontología de la Universidad Nacional Mayor de San Marcos, Lima, Perú.


    The purpose of this study consisted in determining the stages of bony maturation according to the classification of Helm and Björk, in 80 children patients who went for orthodontic treatment to the clinic of the Faculty of Odontology of UNMSM. Of the total of children, 38 were females and 42 were males. The ages oscillated between 7 and 13 years of age. The results indicated that in the children, the stage MP3 cap that correspond to the growth tip found at the age of 10.29 years whereas in ma...

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

    Directory of Open Access Journals (Sweden)

    Alberto Nicodemo


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

  11. Osteoprotegerin protects against muscular dystrophy. (United States)

    Dufresne, Sébastien S; Dumont, Nicolas A; Bouchard, Patrice; Lavergne, Éliane; Penninger, Josef M; Frenette, Jérôme


    Receptor-activator of NF-κB, its ligand RANKL, and the soluble decoy receptor osteoprotegerin are the key regulators of osteoclast differentiation and bone remodeling. Although there is a strong association between osteoporosis and skeletal muscle atrophy/dysfunction, the functional relevance of a particular biological pathway that synchronously regulates bone and skeletal muscle physiopathology still is elusive. Here, we show that muscle cells can produce and secrete osteoprotegerin and pharmacologic treatment of dystrophic mdx mice with recombinant osteoprotegerin muscles. (Recombinant osteoprotegerin-Fc mitigates the loss of muscle force in a dose-dependent manner and preserves muscle integrity, particularly in fast-twitch extensor digitorum longus.) Our data identify osteoprotegerin as a novel protector of muscle integrity, and it potentially represents a new therapeutic avenue for both muscular diseases and osteoporosis. Copyright © 2015 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  12. [Myocardiopathy of progressive muscular dystrophy]. (United States)

    Ion, I C; Dumitriu, M; Nisipeanu, P; Cinteza, M


    The authors have effected a clinical, radiological, electrocardiographic and apexocardiographic survey in 13 patients with progressive muscular distrophy (PMD) and in 6 healthy subjects belonging to families affected by the disease, in parallel with a group of 11 patients with severe myasthenia and 23 healthy subjects. Comparing the results with those found in the literature lead to the following results: 1) The ECG modifications and above all the abnormalities of the ventricular complex develop precociously in the PMD and express the pleiotropism of the myopathic gene. 2) The myocardial dyssynergia represents a link in the physiopathological chain of the cardiac distress. 3) The precociousness of electro and apexocardiographic modifications and their presence in healthy parents recommend these investigations in the genetic enquiry. 4) Clinical, histological and haemodynamic data individualize the myocardial distress as a true myocardiopathy.

  13. The relationship of transverse sinus stenosis to bony groove dimensions provides an insight into the aetiology of idiopathic intracranial hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Connor, S.E.J.; Stewart, V.R.; O' Flynn, E.A.M. [King' s College Hospital, Neuroradiology Department, Ruskin Wing, London (United Kingdom); Siddiqui, M.A. [Southern General Hospital, Institute of Neurological Sciences, Glasgow (United Kingdom)


    Transverse sinus tapered narrowings are frequently identified in patients with idiopathic intracranial hypertension (IIH); however, it remains unclear whether they are primary stenoses or whether they occur secondary to raised cerebrospinal fluid pressure. Computed tomographic venography demonstrates both the morphology of the venous system and the adjacent bony grooves so it may provide an insight into the aetiology of these transverse sinus stenoses. Tapered transverse sinus narrowings (>50%) were studied in 19 patients without IIH and 14 patients with IIH. Computed tomography vascular studies were reviewed and the dimensions of the venous sinuses and bony grooves at the sites of maximum and minimum transverse sinus area dimensions were recorded. There was demonstrated to be a strong correlation of bony groove height with venous sinus height at the largest portions of the transverse sinus in both IIH patients and non-IIH subjects as well as at the transverse sinus narrowing in non-IIH subjects. There was a discordant relationship between bony groove height and venous sinus height at the site of transverse sinus stenoses in IIH patients. In 5/23 IIH transverse sinus stenoses, the bony groove height was proportionate to that seen in non-IIH subjects. There were a further 8/23 cases where the small or absent sinus was associated with an absent bony groove. Transverse sinus tapered narrowings in subjects without IIH and in the majority of patients with IIH were associated with proportionately small or absent grooves, and these are postulated to be primary or fixed. Some patients with IIH demonstrate tapered transverse sinus stenoses with disproportionately large bony grooves, suggesting a secondary or acquired narrowing. This implies a varied aetiology for the transverse sinus stenoses of IIH. (orig.)

  14. Duchenne muscular dystrophy: current cell therapies. (United States)

    Sienkiewicz, Dorota; Kulak, Wojciech; Okurowska-Zawada, Bożena; Paszko-Patej, Grażyna; Kawnik, Katarzyna


    Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy. This review presents current therapeutic methods for Duchenne muscular dystrophy, based on scientific articles in English published mainly in the period 2000 to 2014. We used the PubMed database to identify and review the most important studies. An analysis of contemporary studies of stem cell therapy and the use of granulocyte colony-stimulating factor (G-CSF) in muscular dystrophy was performed.

  15. Morphometrical study of bony elements of the forelimb fetlock joints in horses. (United States)

    Alrtib, A M; Philip, C J; Abdunnabi, A H; Davies, H M S


    There are many reports describing fractures in the bony elements of the equine fetlock joint and a few of these discuss possible relationships of these fractures to the mechanical loading of these bones. The likelihood of fracture must be related to the size and shape of bones involved, but information concerning the normal range in size and shape of these bones in horses is lacking. This study aimed to identify morphometrical variations of these bones within different groups of horses. Right and left metacarpal, proximal phalangeal and proximal sesamoid bones were collected from 10 Thoroughbreds (TB), five Standardbreds (SB) and eight Ponies (P) euthanized for non-orthopaedic reasons. All bones were boiled, cleaned and dried. Dimensional parameters were measured using a custom-built apparatus, calliper and plastic tape. The width and depth of the medial condyles of Mc3 were greater than the lateral condyles in all groups. The length to the lateral condyle was greater than the length to the medial condyle of Mc3, and the lengths of the lateral sides of the Mc3 and P1 bones were greater than the lengths of the medial sides in both forelimbs of all groups. The lateral sesamoids were similar to, or larger than, the medial sesamoids in all dimensions. There were some morphometrical variations in the bony elements of the equine fetlock joints in all groups. © 2012 Blackwell Verlag GmbH.

  16. Bony manifestation of rickets in a sunny city - a case report from Yazd, Iran

    Directory of Open Access Journals (Sweden)

    Mohammadhosain Afrand


    Full Text Available Rickets is disease that occurs in growing bones in which defective mineralization occurs in both the bone and the cartilage of the epiphyseal growth plate, resulting in the retardation of growth and skeletal deformities. Rickets is more common in areas with less sunlight. However, this case report presents a case of the bony manifestation of rickets with the intake of vitamin D supplements in Yazd, a city in central Iran that has sunshine almost every day. A patient was referred to an out-patient general pediatric clinic for deformities of the legs and growth disturbance, with his height far below the normal range. The changes that were most evident in his X-rays were the bowing of the long bones of the legs and forearms and the cupping of the wrist metaphyseal region. In summary, we present a patient with bony manifestation of rickets despite living in a sunny area and taking vitamin D supplements. Thus, it is important to remember that rickets is still a common disease among children in Iran. More studies of this issue should be conducted, including the identification of abnormal cases and rescheduling vitamin D supplementation programs.

  17. Bony manifestation of rickets in a sunny city - a case report from Yazd, Iran

    Directory of Open Access Journals (Sweden)

    Mohammadhosain Afrand


    Full Text Available Rickets is disease that occurs in growing bones in which defective mineralization occurs in both the bone and the cartilage of the epiphyseal growth plate, resulting in the retardation of growth and skeletal deformities. Rickets is more common in areas with less sunlight. However, this case report presents a case of the bony manifestation of rickets with the intake of vitamin D supplements in Yazd, a city in central Iran that has sunshine almost every day. A patient was referred to an out-patient general pediatric clinic for deformities of the legs and growth disturbance, with his height far below the normal range. The changes that were most evident in his X-rays were the bowing of the long bones of the legs and forearms and the cupping of the wrist metaphyseal region. In summary, we present a patient with bony manifestation of rickets despite living in a sunny area and taking vitamin D supplements. Thus, it is important to remember that rickets is still a common disease among children in Iran. More studies of this issue should be conducted, including the identification of abnormal cases and rescheduling vitamin D supplementation programs

  18. The effect of distal femur bony morphology on in vivo knee translational and rotational kinematics. (United States)

    Hoshino, Yuichi; Wang, Joon Ho; Lorenz, Stephan; Fu, Freddie H; Tashman, Scott


    Tibio-femoral kinematics are clearly influenced by the bony morphology of the femur. Previous morphological studies have not directly evaluated relationships between morphology and knee kinematics. Therefore, the purpose of this study was to examine the relationship between distal femur bony morphology and in vivo knee kinematics during running. It was hypothesized that the posterior offset of the transcondylar axis would be related to the magnitude of anterior/posterior tibio-femoral translation and that the rotational angle of the transcondylar axis would be related to the magnitude of internal/external knee rotation. Seventeen contralateral (uninjured) knees of ACL-reconstructed patients were used. Distal femoral geometry was analyzed from 3D-CT data by determining the anteroposterior location (condyle offset ratio--COR) and rotational angle (condylar twist angle--CTA) of the femoral transcondylar axis. Six degree-of-freedom knee kinematics were obtained during running using a dynamic stereo radiograph system. Knee kinematics were correlated with the femoral morphologic measures (COR and CTA) to investigate the influence of femoral geometry on dynamic knee function. Significant correlations were identified between distal femur morphology and knee kinematics. Anterior tibial translation was positively correlated with the condyle offset ratio (R(2) = 0.41, P femur shape on dynamic knee function. III.

  19. Selected ophthalmic diagnostic tests, bony orbit anatomy, and ocular histology in sambar deer (Rusa unicolor). (United States)

    Oriá, Arianne P; Gomes Junior, Deusdete C; Oliveira, Alberto Vinícius D; Curvelo, Victor P; Estrela-Lima, Alessandra; Pinna, Melissa H; Meneses, Íris D S; Filho, Emanoel F M; Ofri, Ron


    The purpose of this study was to establish reference values for diagnostic ophthalmic tests in sambar deer (Rusa unicolor) as well as to describe the most relevant features of the bony orbital anatomy and ocular histology. Twenty healthy animals, free living in a forest reserve, that were captured for clinical evaluation as part of a health survey were evaluated. Schirmer tear test-1 (STT1), conjunctival microbiota, intraocular pressure (IOP), conjunctival cytology, anatomy of the bony orbit, and ocular histology were studied. Mean ± SD STT1 and IOP values were 18.8 ± 4.7 mm and 11.4 ± 2.8 mmHg, respectively. IOP was significantly higher in adult (4-8 years) animals (P = 0.04). Bacterial growth was present in 100% of the samples, with a prevalence for Staphylococcus sp. and Bacillus sp. The conjunctival cytology revealed predominance of columnar epithelial cells with mild pigmentation. The sambar deer orbit is completely encompassed by bone. The ocular histology was very similar to most mammalians. The findings in this study will be useful in the diagnosis of ocular diseases in Rusa unicolor. © 2014 American College of Veterinary Ophthalmologists.

  20. Bony labyrinth morphometry indicates locomotor adaptations in the squirrel-related clade (Rodentia, Mammalia) (United States)

    Pfaff, Cathrin; Martin, Thomas; Ruf, Irina


    The semicircular canals (SCs) of the inner ear detect angular acceleration and are located in the bony labyrinth of the petrosal bone. Based on high-resolution computed tomography, we created a size-independent database of the bony labyrinth of 50 mammalian species especially rodents of the squirrel-related clade comprising taxa with fossorial, arboreal and gliding adaptations. Our sampling also includes gliding marsupials, actively flying bats, the arboreal tree shrew and subterranean species. The morphometric anatomy of the SCs was correlated to the locomotion mode. Even if the phylogenetic signal cannot entirely be excluded, the main significance for functional morphological studies has been found in the diameter of the SCs, whereas the radius of curvature is of minor interest. Additionally, we found clear differences in the bias angle of the canals between subterranean and gliding taxa, but also between sciurids and glirids. The sensitivity of the inner ear correlates with the locomotion mode, with a higher sensitivity of the SCs in fossorial species than in flying taxa. We conclude that the inner ear of flying and gliding mammals is less sensitive due to the large information flow into this sense organ during locomotion. PMID:26019162

  1. Variation of the obturator foramen and pubic arch of the female bony pelvis. (United States)

    Ridgeway, Beri M; Arias, Beatriz E; Barber, Matthew D


    The purpose of this study was to determine dimensions of the obturator foramen and pubic arch of the female pelvis and to assess for variability. Ninety-six female pelvises were selected from the Cleveland Natural History Museum. The obturator foramen area, pubic arch angle, pubic ramus, pubic symphysis, and anterior urogenital triangle area were measured. Linear regression was used to evaluate independent associations. There was considerable variability of the bony architecture. The mean obturator foramen area was 12.2 +/- 2.1 cm(2) (range, 7.38-18.22 cm(2)). After controlling for height, the pubic ramus width, pubic symphysis length, and interobturator foramina distance were significantly greater in European American women compared with African American women. Obturator foramen area increased with increasing height (P = .0008) but was not associated with race. There is considerable variability in the bony architecture of the obturator foramen and pubic arch of the female pelvis. Race and height may account for some of these variabilities.

  2. The Effects of Latarjet Reconstruction on Glenohumeral Instability in the Presence of Combined Bony Defects (United States)

    Patel, Ronak M.; Walia, Piyush; Gottschalk, Lionel; Jones, Morgan H.; Fening, Stephen D.; Miniaci, Anthony


    Objectives: Recurrent glenohumeral instability is often a result of underlying bony defects in the glenoid and/or humeral head. Anterior glenoid augmentation with a bone block (i.e. Latarjet) has been recommended for glenoid bone loss in the face of recurrent instability. However, no study has investigated the effect of Latarjet augmentation in the setting of both glenoid and humeral head defects (Hill-Sachs Defects (HSD)). The purpose of this study was to evaluate the stability achieved through a Latarjet procedure in the presence of combined bony defects. Our hypothesis was that Latarjet augmentation would increase shoulder stability for glenoid defects with small HSD, but have limited success in cases with large concomitant HSD. Methods: Eighteen fresh-frozen cadaveric specimens were tested at combinations of glenohumeral abduction (ABD) angles of 20°, 40°, and 60° and external rotation (ER) angles of 0°, 40°, and 80°. Each experiment applied a 50N medial load on the humerus to replicate the static load of soft tissues, and then simulated anterior dislocation by translating the glenoid in an anterior direction. Translational distance and medial-lateral displacement of the humeral head, along with horizontal reaction forces, were recorded for every trial. Specimens were tested in an intact condition (no defect), different combinations of defects, and with Latarjet augmentation. The Latarjet was performed for 20% and 30% glenoid defects by transferring the specimen’s coracoid process anterior to the glenoid flush with the articulating surface. Results: Results are summarized in Fig. 1. The vertical axis represents the normalized distance to dislocation with respect to the values of the intact joint. The horizontal axis represents the varying sizes and combinations of bony defects. Latarjet augmentation improved stability for every combination of bony defects. At 20° ABD, 0°ER, and 20% glenoid defect size, the percentage of intact translation did not

  3. Ultrasonographic Characteristics of the Common Extensor Tendon of the Elbow in Asymptomatic Individuals: Thickness, Color Doppler Activity, and Bony Spurs. (United States)

    Krogh, Thøger P; Fredberg, Ulrich; Ammitzbøl, Christian; Ellingsen, Torkell


    Ultrasonography (US) of the common extensor tendon (CET) of the elbow is often part of the assessment of patients with lateral epicondylitis. This US assessment is currently based on general tendinopathy references and not well-defined US entities. To describe CET thickness, color Doppler activity, and bony spurs on US in asymptomatic volunteers and to investigate the influence of sex, age, height, body mass index (BMI), weight, and elbow dominance on the measurements. Cross-sectional study; Level of evidence, 3. Tendon thickness, color Doppler activity, and bony spurs of the CET were measured sonographically in 264 adults (50% women) aged 20 to 96 years. Two different tendon-thickness measuring techniques were applied, labeled the "plateau measure" and the "1-cm measure." Color Doppler activity was based on a 0 to 4 rating scale (negative, grades 0 and 1; positive, grades 2-4). A bony spur was defined as a bony outgrowth (≥0.3 mm) arising at the insertional site of the CET. With both tendon-thickness measuring techniques, the CET in the dominant elbow was thicker than that in the nondominant elbow, and male tendons were thicker than female tendons (all P ≤ .03). In regression analysis, tendon thickness correlated with weight, color Doppler activity, and arm dominance for both measuring techniques in multiple regression analysis. In addition, the plateau measure correlated with height and the presence of bony spurs. No correlations were observed regarding BMI, sex, or age. Positive color Doppler activity was found in 9% of examined elbows, with no difference between the sexes regarding dominant versus nondominant elbows (all P ≥.20). Bony spurs were found to increase with age, from 23% for people in their 20s to 74% in people older than 70 years. Bony spurs were more common in the dominant elbow ( P ≤ .01). Women had a higher prevalence of bony spurs than men, but only in the dominant elbow ( P = .03). This study presents the US characteristics and normal

  4. Sacro-Iliac Joint Sensory Block and Radiofrequency Ablation: Assessment of Bony Landmarks Relevant for Image-Guided Procedures. (United States)

    Robinson, Trevor J G; Roberts, Shannon L; Burnham, Robert S; Loh, Eldon; Agur, Anne M


    Image-guided sensory block and radiofrequency ablation of the nerves innervating the sacro-iliac joint require readily identifiable bony landmarks for accurate needle/electrode placement. Understanding the relative locations of the transverse sacral tubercles along the lateral sacral crest is important for ultrasound guidance, as they demarcate the position of the posterior sacral network (S1-S3 ± L5/S4) innervating the posterior sacro-iliac joint. No studies were found that investigated the spatial relationships of these bony landmarks. The purpose of this study was to visualize and quantify the interrelationships of the transverse sacral tubercles and posterior sacral foramina to inform image-guided block and radiofrequency ablation of the sacro-iliac joint. The posterior and lateral surfaces of 30 dry sacra (15 M/15 F) were digitized and modeled in 3D and the distances between bony landmarks quantified. The relationships of bony landmarks (S1-S4) were not uniform. The mean intertubercular and interforaminal distances decreased from S1 to S4, whereas the distance from the lateral margin of the posterior sacral foramina to the transverse sacral tubercles increased from S1 to S3. The mean intertubercular distance from S1 to S3 was significantly (p < 0.05) larger in males. The interrelationships of the sacral bony landmarks should be taken into consideration when estimating the site and length of an image-guided strip lesion targeting the posterior sacral network.

  5. Peter Becker and his Nazi past: the man behind Becker muscular dystrophy and Becker myotonia. (United States)

    Zeidman, Lawrence A; Kondziella, Daniel


    Peter Becker was a German neurologist who helped classify the muscular dystrophies, and described Becker muscular dystrophy and Becker myotonia. His involvement in National Socialism began in 1933, when he was compelled by his peers to join the SA (brown shirts). He later joined the Nazi party, the Nazi Doctors Association, and the Nazi Lecturers' Association. He renewed his SA membership to maintain his position at a genetics institute. Colleagues stated postwar that he was not an active Nazi, and he was de-Nazified in 1947, able to continue his career. Later, Becker admitted to most, but not all, of his Nazi memberships in his autobiography, and wrote 2 books exploring the origins of Nazism and racial hygiene. The "neurologic court of opinion" must weigh in on how we should best remember Becker, and at the very least, we as neurologists must learn the dangers of career opportunism at any cost.

  6. Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry

    Directory of Open Access Journals (Sweden)

    Acary S. Bulle Oliveira


    Full Text Available To ascertain whether dystrophin immunohistochemistry could improve DMD/ BMD carrier detection, we analyzed 14 muscle biopsies from 13 DMD and one BMD probable and possible carriers. All women were also evaluated using conventional methods, including genetic analysis, clinical and neurological evaluation, serum CK levels, KMG, and muscle biopsy. In 6 cases, there was a mosaic of dystrophin-positive and dystrophin-deficient fibers that allowed to make the diagnosis of a carrier state. Comparing dystrophin immunohistochemistry to the traditional methods, it was noted that this method is less sensitive than serum CK measuremens, but is more sensitive than EMG and muscle biopsy. The use of dystrophin immunohistochemistry in addition to CK, EMG and muscle biopsy improved the accuracy of carrier detection. This method is also helpful to distinguish manifesting DMD carriers from patients with other neuromuscular diseases like limb-girdle muscular dystrophy and spinal muscular atrophy.

  7. Neurologic presentation of celiac disease. (United States)

    Bushara, Khalafalla O


    Celiac disease (CD) long has been associated with neurologic and psychiatric disorders including cerebellar ataxia, peripheral neuropathy, epilepsy, dementia, and depression. Earlier reports mainly have documented the involvement of the nervous system as a complication of prediagnosed CD. However, more recent studies have emphasized that a wider spectrum of neurologic syndromes may be the presenting extraintestinal manifestation of gluten sensitivity with or without intestinal pathology. These include migraine, encephalopathy, chorea, brain stem dysfunction, myelopathy, mononeuritis multiplex, Guillain-Barre-like syndrome, and neuropathy with positive antiganglioside antibodies. The association between most neurologic syndromes described and gluten sensitivity remains to be confirmed by larger epidemiologic studies. It further has been suggested that gluten sensitivity (as evidenced by high antigliadin antibodies) is a common cause of neurologic syndromes (notably cerebellar ataxia) of otherwise unknown cause. Additional studies showed high prevalence of gluten sensitivity in genetic neurodegenerative disorders such as hereditary spinocerebellar ataxia and Huntington's disease. It remains unclear whether gluten sensitivity contributes to the pathogenesis of these disorders or whether it represents an epiphenomenon. Studies of gluten-free diet in patients with gluten sensitivity and neurologic syndromes have shown variable results. Diet trials also have been inconclusive in autism and schizophrenia, 2 diseases in which sensitivity to dietary gluten has been implicated. Further studies clearly are needed to assess the efficacy of gluten-free diet and to address the underlying mechanisms of nervous system pathology in gluten sensitivity.

  8. Neurological aspects of vibroacoustic disease. (United States)

    Martinho Pimenta, A J; Castelo Branco, N A


    Mood and behavioral abnormalities are the most common early findings related to vibroacoustic disease (VAD). Other signs and symptoms have been observed in VAD patients. Brain MRI discloses small multifocal lesions in about 50% of subjects with more than 10 yr of occupational exposure to large pressure amplitude (> or = 90 dB SPL) and low frequency (< or = 500 Hz) (LPALF) noise. However, to date, there have been no studies globally integrating all the neurological, imaging and neurophysiological data of VAD patients. This is the main goal of this study. The 60 male Caucasians diagnosed with VAD were neurologically evaluated in extreme detail in order to systematically identify the most common and significant neurological disturbances in VAD. This population demonstrates cognitive changes (identified through psychological and neurophysiological studies (ERP P300)), vertigo and auditory changes, visual impairment, epilepsy, and cerebrovascular diseases. Neurological examination reveals pathological signs and reflexes, most commonly the palmo-mental reflex. A vascular pattern underlying the multifocal hyperintensities in T2 MR imaging, with predominant involvement of the small arteries of the white matter, is probably the visible organic substratum of the neurological picture. However, other pathophyisological mechanisms are involved in epileptic symptomatology.

  9. What Are the Treatments for Muscular Dystrophy? (United States)

    ... NICHD Research Information Find a Study More Information Preeclampsia and Eclampsia About NICHD Research Information Find a ... Facebook Twitter Pinterest Email Print What are the treatments for muscular dystrophy? No treatment is currently available ...

  10. Physical Therapy and Facioscapulohumeral Muscular Dystrophy (FSHD) (United States)

    Physical Therapy & FSHD Facioscapulohumeral Muscular Dystrophy A Guide for Patients & Physical Therapists Authors: Wendy M. King, P.T., ... expertise and patient preferences. The goals of any physical therapy plan of care are to assist patients to:  ...

  11. An unusual variant of Becker muscular dystrophy

    NARCIS (Netherlands)

    de Visser, M.; Bakker, E.; Defesche, J. C.; Bolhuis, P. A.; van Ommen, G. J.


    We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed

  12. Brain MRI Findings in Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available Brain magnetic resonance imaging (MRI findings in 13 patients with congenital muscular dystrophy (MDCIC and Fukutin-related protein (FKRP gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.

  13. Anoctamin 5 muscular dystrophy in Denmark

    DEFF Research Database (Denmark)

    Witting, Nanna; Duno, Morten; Petri, Helle


    Since the initial description in 2010 of anoctamin 5 deficiency as a cause of muscular dystrophy, a handful of papers have described this disease in cases of mixed populations. We report the first large regional study and present data on new aspects of prevalence, muscular and cardiac phenotypic...... characteristics, and muscle protein expression. All patients in our neuromuscular unit with genetically unclassified, recessive limb girdle muscular dystrophy (LGMD2), Miyoshi-type distal myopathy (MMD) or persistent asymptomatic hyperCK-emia (PACK) were assessed for mutations in the ANO5 gene. Genetically...... confirmed patients were evaluated with muscular and cardiopulmonary examination. Among 40 unclassified patients (28 LGMD2, 5 MMD, 7 PACK), 20 were homozygous or compound heterozygous for ANO5 mutations, (13 LGMD2, 5 MMD, 2 PACK). Prevalence of ANO5 deficiency in Denmark was estimated at 1:100.000 and ANO5...

  14. Duchenne muscular dystrophy: Case report and review

    Directory of Open Access Journals (Sweden)

    Rupam Sinha


    Full Text Available Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.

  15. Duchenne muscular dystrophy: Case report and review. (United States)

    Sinha, Rupam; Sarkar, Soumyabrata; Khaitan, Tanya; Dutta, Soumyajit


    Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.

  16. Neurologic considerations in propionic acidemia. (United States)

    Schreiber, John; Chapman, Kimberly A; Summar, Marshall L; Ah Mew, Nicholas; Sutton, V Reid; MacLeod, Erin; Stagni, Kathy; Ueda, Keiko; Franks, Jill; Island, Eddie; Matern, Dietrich; Peña, Loren; Smith, Brittany; Urv, Tiina; Venditti, Charles; Chakarapani, Anupam; Gropman, Andrea L


    Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities. As the PA consensus conference hosted by Children's National Medical Center progressed from January 28 to 30, 2011, it became evident that neurological complications were common and a major component of morbidity, but the role of imaging and the basis for brain pathophysiology were unclear. This paper reviews the hypothesized pathophysiology, presentation and uses the best available evidence to suggest programs for treatment, imaging, and monitoring the neurological complications of PA. Copyright © 2011. Published by Elsevier Inc. All rights reserved.

  17. Acupuncture application for neurological disorders. (United States)

    Lee, Hyangsook; Park, Hi-Joon; Park, Jongbae; Kim, Mi-Ja; Hong, Meesuk; Yang, Jongsoo; Choi, Sunmi; Lee, Hyejung


    Acupuncture has been widely used for a range of neurological disorders. Despite its popularity, the evidence to support the use of acupuncture is contradictory. This review was designed to summarize and to evaluate the available evidence of acupuncture for neurological disorders. Most of the reviewed studies suffer from lack of methodological rigor. Owing to paucity and poor quality of the primary studies, no firm conclusion could be drawn on the use of acupuncture for epilepsy, Alzheimer's disease, Parkinson's disease, ataxic disorders, multiple sclerosis, amyotrophic lateral sclerosis and spinal cord injury. For stroke rehabilitation, the evidence from recent high-quality trials and previous systematic reviews is not convincing. More rigorous trials are warranted to establish acupuncture's role in neurological disorders.

  18. Quality Metrics in Inpatient Neurology. (United States)

    Dhand, Amar


    Quality of care in the context of inpatient neurology is the standard of performance by neurologists and the hospital system as measured against ideal models of care. There are growing regulatory pressures to define health care value through concrete quantifiable metrics linked to reimbursement. Theoretical models of quality acknowledge its multimodal character with quantitative and qualitative dimensions. For example, the Donabedian model distils quality as a phenomenon of three interconnected domains, structure-process-outcome, with each domain mutually influential. The actual measurement of quality may be implicit, as in peer review in morbidity and mortality rounds, or explicit, in which criteria are prespecified and systemized before assessment. As a practical contribution, in this article a set of candidate quality indicators for inpatient neurology based on an updated review of treatment guidelines is proposed. These quality indicators may serve as an initial blueprint for explicit quality metrics long overdue for inpatient neurology. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  19. [Child neurology and multimedia technology]. (United States)

    Nihei, Kenji


    Methods of computer technology (intelligent technology, IT), such as multimedia and virtual reality, are utilized more and more in all medical fields including child neurology. Advances in the digitalization of individual medical data and multi-media technology have enabled patients to be able to obtain their own medical data by small media and to receive medical treatment at any hospitals even if they are located in distance place. Changes from a doctor oriented to patients oriented medicine is anticipated. It is necessary to store medical data from birth to adulthood and to accumulate epidemiological data of rare diseases such as metabolic diseases or degenerative diseases especially in child neurology, which highly require tele medicine and telecare at home. Moreover, IT may improve in the QOL of patients with neurological diseases and of their families. Cooperation of medicine and engineering is therefore necessary. Results of our experiments on telemedicine, telecare and virtual reality are described.

  20. [Spinal muscular atrophies in the adult]. (United States)

    Camu, W


    Spinal muscular atrophies are heterogeneous group. The diagnostic process should be careful to uncover the main differential diagnoses and to identify familial cases. Clinical phenotype is highly variable. In familial ALS cases with SOD1 mutation, the clinical scene may mimic spinal muscular atrophy. A careful questionning and a complete electroneuromyographic exam are warranted to allow the neurologist to choose among more invasive investigations for differential and positive diagnosis such as MRI, nerve or muscle biopsy, genetic analysis.

  1. Duchenne muscular dystrophy: current cell therapies


    Sienkiewicz, Dorota; Kulak, Wojciech; Okurowska-Zawada, Bożena; Paszko-Patej, Grażyna; Kawnik, Katarzyna


    Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy. This review presents current therapeutic methods for Duchenne muscular dystrophy, based on scientific articles in English published mainly in the period 2000 to 2014. We used the PubMed database to identify and review the most important studies. An analysis of contemporary studies of stem cel...

  2. Duchenne muscular dystrophy: the management of scoliosis. (United States)

    Archer, James E; Gardner, Adrian C; Roper, Helen P; Chikermane, Ashish A; Tatman, Andrew J


    This study summaries the current management of scoliosis in patients with Duchenne Muscular Dystrophy. A literature review of Medline was performed and the collected articles critically appraised. This literature is discussed to give an overview of the current management of scoliosis within Duchenne Muscular Dystrophy. Importantly, improvements in respiratory care, the use of steroids and improving surgical techniques have allowed patients to maintain quality of life and improved life expectancy in this patient group.

  3. Nutrition Considerations in Duchenne Muscular Dystrophy. (United States)

    Davis, Jillian; Samuels, Emily; Mullins, Lucille


    Duchenne muscular dystrophy (DMD) is a serious degenerative muscular disease affecting males. Diagnosis usually occurs in childhood and is confirmed through genetic testing and/or muscle biopsy. Accompanying the disease are several nutrition-related concerns: growth, body composition, energy and protein requirements, constipation, swallowing difficulties, bone health, and complementary medicine. This review article addresses the nutrition aspects of DMD. © 2015 American Society for Parenteral and Enteral Nutrition.

  4. Analysis of discrepancy between neurologic findings and CT findings in 60 patients with herniated nucleus pulposus

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hyun; Kim, Kab Tae; Sol, Chang Hyo; Kim, Byung Soo [College of Medicine, Pusan National University, Busan(Korea, Republic of)


    The herniated nucleus pulposus (HNP) is a major cause of low back pain and sciatica. High resolution computed tomography is the most accurate diagnostic tool to define a HNP, because it provides a complete in vivo analysis of bony framework of lumbar spine as well as the supporting soft tissue structures and neural elements. But the discrepancy between neurologic findings and CT findings is often confusing. From May 1983 to August 1986, sixty patients with HNP who had both CT and surgical intervention at Pusan National University Hospital were analyzed. The feasibility of the neurologic examination on HNP and the effect of HNP on nerve root were evaluated on the basis of CT findings. The results were as follows : 1. Thirty-four cases (56.7%) of clinical impression were matched to CT findings in determining level of HNP and affected nerve root. 2. In evaluation of affected level, there was high trend to cause discrepancy between neurologic findings and CT findings in multiple disc involvement than in single involvement. 3. There was no correlation between degree of nerve root compression determined by CT and pattern of neurologic signs (motor weakness, sensory deficit, and reflex change)

  5. Neurological manifestation of colonic adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Uzair Chaudhary


    Full Text Available Paraneoplastic neurologic disorders are extremely rare in cancer patients and are most commonly associated with certain tumors, such as ovarian cancer, small cell lung cancer, and breast cancer. We report here a paraneoplastic neurological syndrome in a 53-year-old man with colonic adenocarcinoma with a solitary liver metastasis. His paraneoplastic syndrome was successfully treated by methylprednisolone and primary oncologic therapies including neoadjuvant chemotherapy and definitive surgery. This is also the first documented case of simultaneous manifestation of a sensory neuropathy and limbic encephalitis with colon cancer.

  6. Neurological manifestations in Fabry's disease

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Jensen, Troels Staehelin


    . Neurological symptoms, such as burning sensations (occasionally accompanied by acroparesthesia) and stroke, are among the first to appear, and occur in both male and female patients. A delay in establishing the diagnosis of Fabry's disease can cause unnecessary problems, especially now that enzyme replacement...... treatment is available to prevent irreversible organ damage. Females with Fabry's disease who present with pain have often been ignored and misdiagnosed because of the disorder's X-linked inheritance. This Review will stress the importance of recognizing neurological symptoms for the diagnosis of Fabry...

  7. Sleep disorders in neurological practice

    Directory of Open Access Journals (Sweden)

    Mikhail Guryevich Poluektov


    Full Text Available Sleep disorders are closely associated with both nervous system diseases and mental disorders; however, such patients prefer to seek just neurological advice. Insomnia is the most common complaint in routine clinical practice. It is characterized by different impairments in sleep and daytime awakening. Obstructive sleep apnea syndrome is less common, but more clinically important because of its negative impact on the cardiovascular and nervous systems. The common neurological disorders are restless legs syndrome and REM sleep behavior disorder, as well as narcolepsy, the major manifestations of which are impaired nocturnal sleep and daytime awakening.

  8. The bony labyrinth of the middle Pleistocene Sima de los Huesos hominins (Sierra de Atapuerca, Spain). (United States)

    Quam, Rolf; Lorenzo, Carlos; Martínez, Ignacio; Gracia-Téllez, Ana; Arsuaga, Juan Luis


    We performed 3D virtual reconstructions based on CT scans to study the bony labyrinth morphology in 14 individuals from the large middle Pleistocene hominin sample from the site of the Sima de los Huesos (SH) in the Sierra de Atapuerca in northern Spain. The Atapuerca (SH) hominins represent early members of the Neandertal clade and provide an opportunity to compare the data with the later in time Neandertals, as well as Pleistocene and recent humans more broadly. The Atapuerca (SH) hominins do not differ from the Neandertals in any of the variables related to the absolute and relative sizes and shape of the semicircular canals. Indeed, the entire Neandertal clade seems to be characterized by a derived pattern of canal proportions, including a relatively small posterior canal and a relatively large lateral canal. In contrast, one of the most distinctive features observed in Neandertals, the low placement of the posterior canal (i.e., high sagittal labyrinthine index), is generally not present in the Atapuerca (SH) hominins. This low placement is considered a derived feature in Neandertals and is correlated with a more vertical orientation of the ampullar line (LSCm  PPp), and third part of the facial canal (LSCm < FC3). Some variation is present within the Atapuerca (SH) sample, however, with a few individuals approaching the Neandertal condition more closely. In addition, the cochlear shape index in the Atapuerca (SH) hominins is low, indicating a reduction in the height of the cochlea. Although the phylogenetic polarity of this feature is less clear, the low shape index in the Atapuerca (SH) hominins may be a derived feature. Regardless, cochlear height subsequently increased in Neandertals. In contrast to previous suggestions, the expanded data in the present study indicate no difference across the genus Homo in the angle of inclination of the cochlear basal turn (COs < LSCm). Principal components analysis largely confirms these observations. While not

  9. Bony landmarks available for minimally invasive lateral ankle stabilization surgery: a cadaveric anatomical study. (United States)

    Matsui, Kentaro; Oliva, Xavier Martin; Takao, Masato; Pereira, Bruno S; Gomes, Tiago Mota; Lozano, Jan Martinez; Glazebrook, Mark


    The purpose of this study was to determine the clinical utility of three bony tubercles: fibular obscure tubercle, talar obscure tubercle and tuberculum ligamenti calcaneofibularis, to serve as anatomical landmarks for defining the precise location of the origins and insertions of the anterior talofibular ligament (ATFL) and calcaneofibular ligament (CFL). Twelve lower extremity cadaveric specimens were procured. The detectability of the tubercles was tested using palpation and fluoroscopy with subsequent confirmation after dissection. If the tubercles were present, then distances from the identified tubercles to the footprint centres and the intersection of the ATFL and CFL were measured to allow precise localization of the ATFL and CFL origin and intersection sites. Further, if the tubercles were not detectable, then an attempt to provide an alternative means of localizing ATFL and CFL origin and insertion sites was made by measuring distances between alternative landmarks and other important structures. All the measurements were performed by two researchers, and the results were averaged. The fibular obscure tubercle existed and was detectable in all specimens. It was located 1.3 mm proximal to the articular tip of the fibula, 2.7 mm to the intersection of the ATFL and CFL, 3.7 mm distal to the ATFL and 4.9 mm proximal to the CFL origins. The talar obscure tubercle existed 58 % of specimens and was detectable in 57 %. The talar obscure tubercle was located 1.4 mm to the ATFL. The ATFL insertion point was located 60 % of the distance from the inferolateral corner to the anterolateral corner of the of talar body along the anterior border of the talar lateral articular facet. The tuberculum ligamenti calcaneofibularis existed in 33 % of specimens and was detectable in 8 %. The CFL inserted 17 mm on a perpendicular projected line distal from the subtalar joint. The fibular obscure tubercle was clinically relevant and reliable bony landmark of the ATFL and

  10. Effects of platelet-rich fibrin on healing of intra-bony defects treated with anorganic bovine bone mineral

    Directory of Open Access Journals (Sweden)

    Yasemin SEZGIN

    Full Text Available Abstract Anorganic bovine bone mineral (ABBM is extensively used in the treatment of intra-bony defects. Platelet-rich fibrin (PRF is a new-generation platelet concentrate with a simplified technique. Although certain studies have reported the use of PRF in the treatment of intra-bony defects, to date, none of them have evaluated its additive effects with ABBM. Therefore, a randomised, split-mouth clinical trial was conducted to compare healing of intra-bony defects treated with an ABBM-PRF combination with healing of those treated with ABBM alone. By using a split-mouth design, 15 paired intra-bony defects were randomly treated with either ABBM alone (control group or ABBM-PRF combination (test group. Following clinical parameters and radiographical measurements were recorded at baseline and 6 months after treatment: plaque index (PI, gingival index (GI, probing depth (PD, gingival recession (GR, clinical attachment level (CAL, vertical bone loss, depth of defect and defect angle. Preoperative clinical and radiographical measurements were similar for the test and control groups. Statistically significant reductions in GI, PD, CAL, vertical bone loss, depth of intra-bony defect and widening of defect angle were detected after treatment in both groups. With respect to inter-group analysis, gain in CAL was significantly greater in the test group than in the control group, whereas no inter-group differences were observed in any other parameter. The results of this study indicate that both therapies are effective in the treatment of intra-bony defects.

  11. Muscular fatigue: considerations for dance. (United States)

    Wyon, Matthew A; Koutedakis, Yiannis


    Muscular fatigue can be defined as the failure to maintain an expected power output. It is a multifaceted phenomenon that incorporates metabolic, neural and neuromuscular components, among others. Metabolic causes of fatigue are associated with the ability to maintain energy supply during exercise, the speed at which homeostasis is achieved post-exercise, and the effects of high intensity exercise by-products on the peripheral neuromuscular system. Research has indicated that the central nervous system plays a protective role in preventing catastrophic muscle damage by reducing the intensity and frequency of propagation founded on biofeedback from the muscle cells. The duration and particularly the type of physical activity play a role in the development of muscle fatigue, with impact or weightbearing exercises, such as dance, producing increased symptoms compared to non-impact or non-weightbearing equivalents. The effects of prolonged exercise and the associated increased levels of muscle fatigue that may lead to compromises in neuromuscular propagation need to be considered in dance.

  12. PrimaryiIntraosseousm meningioma in the orbital bony wall: A case report and review of the literature review

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sung Jae; Ryu, Ji Hwa; Kim, Hong Dae; Lee, Kwang Hwi; Baek, Hye Jin; Kim, Ok Hwa; Yoon, Jung Hee; Kim, Ji Yeon [Dept. of Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of); Park, Young Mi; Kim, Dong Wook [Dept. of Radiology, Busan Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)


    Meningiomas arising outside the intracranial compartment are known as extradural meningiomas. Extradural meningiomas are rare conditions, accounting for less than 2% of all meningiomas. Primary intraosseous meningioma is used to describe a subset of extradural meningiomas arising from bone. A 46-year-old woman presented with left exophthalmos. Computed tomography and magnetic resonance images revealed an expansile bony lesion in the orbital lateral wall of the left sphenoid bone. The patient underwent craniotomy for excision of the bony lesion. Pathologic examination revealed an intraosseous meningioma.

  13. Bony cranial ornamentation linked to rapid evolution of gigantic theropod dinosaurs (United States)

    Gates, Terry A.; Organ, Chris; Zanno, Lindsay E.


    Exaggerated cranial structures such as crests and horns, hereafter referred to collectively as ornaments, are pervasive across animal species. These structures perform vital roles in visual communication and physical interactions within and between species. Yet the origin and influence of ornamentation on speciation and ecology across macroevolutionary time scales remains poorly understood for virtually all animals. Here, we explore correlative evolution of osseous cranial ornaments with large body size in theropod dinosaurs using a phylogenetic comparative framework. We find that body size evolved directionally toward phyletic giantism an order of magnitude faster in theropod species possessing ornaments compared with unadorned lineages. In addition, we find a body mass threshold below which bony cranial ornaments do not originate. Maniraptoriform dinosaurs generally lack osseous cranial ornaments despite repeatedly crossing this body size threshold. Our study provides novel, quantitative support for a shift in selective pressures on socio-sexual display mechanisms in theropods coincident with the evolution of pennaceous feathers.

  14. A tomographic study of positional and bony changes in the temporomandibular joint following orthognathic surgery

    Energy Technology Data Exchange (ETDEWEB)

    Song, Nam Kyu; Kim Min Suk; Koh, Kwang Joon [Dept. of Oral Radiology, College of Dentistry, Chonpook National University, Chonju (Korea, Republic of)


    The purpose of this study was to aid in the evaluation of prognosis of temporomandibular joint following orthognathic surgery. For this study, 20 patients (40 TMJ) who undergone orthognathic surgery were examined. Preoperative and postoperative tomograms of TMJ were taken. And the subjects were divided into 3 groups according to postoperative periods. The obtained results were as follows : 1. There were no significant differences between preoperative and postoperative changes in joint spaces in each group and between groups (P<0.05). 2. There were no significant differences between preoperative and postoperative ratio of joint spaces (P<0.05).3. There were no significant differences between preoperative and postoperative changes in the range of motion of condylar head (P<0.05). 4. The bony changes of condylar head were observed in 14 (35%) condyles (6 erosion, 2 flattening, 5 double contour, 1 osteophyte).

  15. Edgar Allan Poe and neurology

    Directory of Open Access Journals (Sweden)

    Hélio Afonso Ghizoni Teive


    Full Text Available Edgar Allan Poe was one of the most celebrated writers of all time. He published several masterpieces, some of which include references to neurological diseases. Poe suffered from recurrent depression, suggesting a bipolar disorder, as well as alcohol and drug abuse, which in fact led to his death from complications related to alcoholism. Various hypotheses were put forward, including Wernicke's encephalopathy.

  16. Edgar Allan Poe and neurology. (United States)

    Teive, Hélio Afonso Ghizoni; Paola, Luciano de; Munhoz, Renato Puppi


    Edgar Allan Poe was one of the most celebrated writers of all time. He published several masterpieces, some of which include references to neurological diseases. Poe suffered from recurrent depression, suggesting a bipolar disorder, as well as alcohol and drug abuse, which in fact led to his death from complications related to alcoholism. Various hypotheses were put forward, including Wernicke's encephalopathy.

  17. Proprioceptive reflexes and neurological disorders

    NARCIS (Netherlands)

    Schouten, A.C.


    Proprioceptive reflexes play an important role during the control of movement and posture. Disturbed modulation of proprioceptive reflexes is often suggested as the cause for the motoric features present in neurological disorders. In this thesis methods are developed and evaluated to quantify

  18. [Neurology in medieval regimina sanitatis]. (United States)

    de Frutos González, V; Guerrero Peral, A L


    In medical medieval literature some works about dietetics stand out. Dietetics, as a separate branch of medicine, includes not only food or drinks, but other environmental factors influencing on health. They are known as regimina sanitatis or salutis, and specially developed in the Christian west. They generally consisted of a balance between the Galenic "six non-natural things"; factors regulating health and its protection: environment, exercise, food, sleep, bowel movements and emotions. After reviewing the sources and defining the different stages of this genre, we have considered three of the most out-standing medieval regimina, the anonymous Regimen sanitatis salernitanum, Arnaldo de Vilanova's Regimen sanitatis ad regem aragonum and Bernardo de Gordon's Tractatus of conservatione vite humane. In them we review references to neurological disease. Though not independently considered, there is a significant presence of neurological diseases in the regimina. Dietetics measures are proposed to preserve memory, nerves, or hearing, as well as for the treatment of migraine, epilepsy, stroke or dizziness. Regimina are quiet representative among medical medieval literature, and they show medieval physicians vision of neurological diseases. Dietetics was considered useful to preserve health, and therapeutics was based on natural remedies. 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  19. Education Research: Neurology training reassessed (United States)

    Maas, Matthew B.; Coleman, Mary; Jozefowicz, Ralph; Engstrom, John


    Objective: To assess the strengths and weaknesses of neurology resident education using survey methodology. Methods: A 27-question survey was sent to all neurology residents completing residency training in the United States in 2011. Results: Of eligible respondents, 49.8% of residents returned the survey. Most residents believed previously instituted duty hour restrictions had a positive impact on resident quality of life without impacting patient care. Most residents rated their faculty and clinical didactics favorably. However, many residents reported suboptimal preparation in basic neuroscience and practice management issues. Most residents (71%) noted that the Residency In-service Training Examination (RITE) assisted in self-study. A minority of residents (14%) reported that the RITE scores were used for reasons other than self-study. The vast majority (86%) of residents will enter fellowship training following residency and were satisfied with the fellowship offers they received. Conclusions: Graduating residents had largely favorable neurology training experiences. Several common deficiencies include education in basic neuroscience and clinical practice management. Importantly, prior changes to duty hours did not negatively affect the resident perception of neurology residency training. PMID:23091077

  20. International electives in neurology training (United States)

    Lyons, Jennifer L.; Coleman, Mary E.; Engstrom, John W.


    Objective: To ascertain the current status of global health training and humanitarian relief opportunities in US and Canadian postgraduate neurology programs. Background: There is a growing interest among North American trainees to pursue medical electives in low- and middle-income countries. Such training opportunities provide many educational and humanitarian benefits but also pose several challenges related to organization, human resources, funding, and trainee and patient safety. The current support and engagement of neurology postgraduate training programs for trainees to pursue international rotations is unknown. Methods: A survey was distributed to all program directors in the United States and Canada (December 2012–February 2013) through the American Academy of Neurology to assess the training opportunities, institutional partnerships, and support available for international neurology electives. Results: Approximately half of responding programs (53%) allow residents to pursue global health–related electives, and 11% reported that at least 1 trainee participated in humanitarian relief during training (survey response rate 61%, 143/234 program directors). Canadian programs were more likely to allow residents to pursue international electives than US programs (10/11, 91% vs 65/129, 50%, p = 0.023). The number of trainees participating in international electives was low: 0%–9% of residents (55% of programs) and 10%–19% of residents (21% of programs). Lack of funding was the most commonly cited reason for residents not participating in global health electives. If funding was available, 93% of program directors stated there would be time for residents to participate. Most program directors (75%) were interested in further information on global health electives. Conclusions: In spite of high perceived interest, only half of US neurology training programs include international electives, mostly due to a reported lack of funding. By contrast, the majority

  1. A clinico-radiologic study of bony remodeling of the fractured condyles in children

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jeong Shin; Park, Chang Seo [Department of Dentistry, The Graduate School, Yonsei University, Seoul (Korea, Republic of)


    Bony remodeling pattern of condyle fractures in children are different from in adult for growing of condyle, also might affect treatment and prognosis of the condyle fracture. Subjects of this clinical and radiologic study were 26 temporomandibular joints diagnosed as condyle fracture in 23 patients under 15 years old age, They were treated with conservative method at Dental Hospital of Yonsei University from Jan., 1986 to Oct., 1994. Bony remodeling related with fracture pattern was evaluated. The results obtained are as follows: 1. The ratio of male to female in patients with condyle fracture was 1 : 0.9 and the difference of sex ratio was not noted. Comparing with preschool-age group and school-age group, age frequency was higher in preschool-age group (83%). 2. Fallen down (54%) was the most frequent cause of condyle fractures. Traffic accident and slip down were followed. 3. The most common clinical sign of condyle fractures was tenderness to palpation (19 cases). Mouth opening limitation (17 cases), swelling (7 cases), malocclusion (3 cases) were next in order. 4. According to sites of condyle fractures, unilateral fractures were in 20 patients and bilateral fractures in 3 patients, therefore total 23 patients-26 cases of condyle fracture were observed. According to fracture distribution, condyle fractures were in 10 patients (44%). Condyle fractures with symphysis fracture (9 patients, 39%), condyle fractures with ascending ramus fracture (2 patients, 9%), condyle fracture with mandibular body fracture (1 patient, 4%), and condyle fractures with mandibular angle fracture (1 patient, 4%) were followed. 5. In displacement pattern of fractured fragment of mandibular condyle, displacement (17 cases, 66%) was most common. Dislocation (5 cases, 19%) and deviation (4 cases, 15%) were next in order. 6. During the observation period of fractured condyles, remodeling patterns of fracture sites related with articular fossa were observed with usual congealer shape in 23

  2. [Treatment of Vancouver type B1 periprosthetic femoral fracture with locked plate and xenogenic bony plate]. (United States)

    Chen, Qi; Chen, Wei; Ding, Zhen-Qi; Liu, Guo-Jun; Gao, Jian-Ting; Liu, Yan


    To analyze the therapeutic effect of plate cable system and cortical strut bone graft in the prosthesis revision of the total hip arthroplasty for the treatment of Vancouver type B1 periprosthetic femoral fracture. A total of 8 patients were selected from January 2006 to January 2013, including 6 males and 2 females, aged from 56 to 74 years old (62.52 years old on average). All the cases were treated by the long plate cable system and appropriate cortical strut bone graft. Harris score was used to evaluate the hip functions before and after the operation. Prosthesis stability and the bony union were assessed by the digital radiography. All the patients were followed up for 45 months on average ranging from 24 to 60 months after operation. All the fractures reached union, and there was no infection, stem loosening, nonunion and malunion. The Harris score was 28.45±5.78 before operation, which was improved to 83.46±10.21 after operation. X ray showed that the prosthesis was stable, and the host bone and bone graft achieved bony union in 7 patients;and the other 1 patient need further operation of revision around the loose stem. The prosthesis revision of the total hip arthroplasty with the locking plate and cortical strut bone graft used for the Vancouver type B1 periprosthetic proximal femur fractures has the advantages of simple manipulation, less complications, good recovery of the hip function and can improve bone quality to provide favorable conditions for operation of revision.

  3. Idiopathic condylar resorptions: 3-dimensional condylar bony deformation, signs and symptoms. (United States)

    Kristensen, Kasper Dahl; Schmidt, Bjarke; Stoustrup, Peter; Pedersen, Thomas Klit


    Our aim was to describe 3-dimensional condylar deformation of the temporomandibular joint (TMJ) and symptoms and signs of temporomandibular dysfunction (TMD) in patients with idiopathic condylar resorption (ICR). We included 25 patients with ICR and 25 controls. We performed cone-beam computed tomographic scans and analyzed condylar width, length, and height as well as the condylar axial angle and the condylar neck angle. TMJ cross sections were evaluated for degenerative characteristics and location of bony deformations. Furthermore, symptoms and signs of TMD were described in the ICR group. In the ICR group, we found statistically significantly reduced condylar width (mean difference, 2.0 mm), height (mean difference, 4.9 mm), and condylar axial angle (mean difference, 10.6°); 84% of the TMJs had a posterior condylar neck angle (control group, 22%). The most common degenerative changes were noncongruent shape of the condyle-fossa relationship (72%), condylar resorption (56%), and nonintact cortex (40%). More than 70% of the joints with bony deformations showed changes along the entire condylar head. Most patients with ICR showed symptoms and signs of TMD; nevertheless, 12% had no signs or symptoms of TMD. ICR in the TMJ changes the shape and reduces the size of the condyle. Deformity locations are unspecified, and the entire condyle is often affected. Most patients with ICR have signs or symptoms of TMD; however, a small group was asymptomatic and without clinical signs. Copyright © 2017 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  4. Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. (United States)

    Aeby, A; Sznajer, Y; Cavé, H; Rebuffat, E; Van Coster, R; Rigal, O; Van Bogaert, P


    The cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal constriction, prominent forehead, downslanting palpebral fissures, curly sparse hair and abnormalities of the skin. CFC syndrome phenotypically overlaps with Noonan and Costello syndromes. Mutations of several genes (PTPN11, HRAS, KRAS, BRAF, MEK1 and MEK2), involved in the mitogen-activated protein kinase (MAPK) pathway, have been identified in CFC-Costello-Noonan patients. Coenzyme Q10 (CoQ10), a lipophilic molecule present in all cell membranes, functions as an electron carrier in the mitochondrial respiratory chain, where it transports electrons from complexes I and II to complex III. CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation. We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. Her psychomotor development was severely impaired, hindered by muscular hypotonia and ataxia, both improving remarkably after CoQ10 treatment. This case suggests that there is a functional connection between the MAPK pathway and the mitochondria. This could be through the phosphorylation of a nuclear receptor essential for CoQ10 biosynthesis. Another hypothesis is that K-Ras, one of the proteins composing the MAPK pathway, might be recruited into the mitochondria to promote apoptosis. This case highlights that CoQ10 might contribute to the pathogenesis of CFC syndrome.

  5. Neurologic manifestations of hypothyroidism in dogs. (United States)

    Bertalan, Abigail; Kent, Marc; Glass, Eric


    Hypothyroidism is a common endocrine disease in dogs. A variety of clinicopathologic abnormalities may be present; however, neurologic deficits are rare. In some instances, neurologic deficits may be the sole manifestation of hypothyroidism. Consequent ly, the diagnosis and management of the neurologic disorders associated with hypothyroidism can be challenging. This article describes several neurologic manifestations of primary hypothyroidism in dogs; discusses the pathophysiology of hypothyroidism-induced neurologic disorders affecting the peripheral and central nervous systems; and reviews the evidence for the neurologic effects of hypothyroidism.

  6. Bony deviations revealed by cone beam computed tomography of the temporomandibular joint in subjects without ongoing pain. (United States)

    Bakke, Merete; Petersson, Arne; Wiesel, Mie; Svanholt, Palle; Sonnesen, Liselotte


    To assess the prevalence of temporomandibular joint (TMJ) bony changes in cone beam computed tomography (CBCT) images of adult subjects without ongoing orofacial pain or complaints from the TMJ. The study included 84 TMJs from 28 men and 14 women (mean age [± SD]: 51 ± 11 years) without orofacial pain or TMJ complaints who were participants in a study of patients with obstructive sleep apnea. They were examined before any treatment with the Research Diagnostic Criteria for Temporomandibular Disorders and with CBCT (NewTom VGi; 15 × 15 cm, exposure time 18 seconds, axial thickness 0.3 mm). Osseous TMJ deviations were assessed blindly and classified. Degenerative changes were noted in the CBCT images of 33 (39.3%) of the TMJs, of which 21 were classified as osteoarthritic alterations and 12 as indeterminate changes of osteoarthritis. Two TMJs were clinically classified as osteoarthrosis and 6 as disc displacement with reduction. The CBCT images of the 2 TMJs with a clinical diagnosis of osteoarthrosis showed also bony changes, but the CBCT images also revealed osteoarthritic bony changes in the 18 TMJs without any clinical diagnosis. CBCT images of asymptomatic adult TMJs commonly show degenerative bony alterations. Accordingly, such radiographic findings should be used with care and only as a supplement to clinical assessment.

  7. Tooth Movement out of the Bony Wall Using Augmented Corticotomy with Nonautogenous Graft Materials for Bone Regeneration

    National Research Council Canada - National Science Library

    Lee, Kye-Bok; Lee, Dong-Yeol; Ahn, Hyo-Won; Kim, Seong-Hun; Kim, Eun-Cheol; Roitman, Igor


    ... took place only after the teeth had relapsed. However, no histologic studies have demonstrated the regeneration or reestablishment of the cortical plate [5, 6]. Corticotomy-facilitated tooth movement with alveolar bone augmentation may facilitate the retention of the periodontal ligament, thereby preventing bony dehiscence and gingival recession [7...

  8. Immediate Single-Tooth Implant Placement in Bony Defects in the Esthetic Zone : A 1-Year Randomized Controlled Trial

    NARCIS (Netherlands)

    Slagter, Kirsten W.; Meijer, Henny J. A.; Bakker, Nicolaas A.; Vissink, Arjan; Raghoebar, Gerry M.

    Background: This study aims to assess, with regard to marginal bone level (MBL), whether the outcome of immediate implant placement in bony defects in the esthetic zone was non-inferior to delayed implant placement after 1 year. Methods: Forty patients with a failing tooth in the esthetic zone and a

  9. The adaptations to strength training : morphological and neurological contributions to increased strength. (United States)

    Folland, Jonathan P; Williams, Alun G


    High-resistance strength training (HRST) is one of the most widely practiced forms of physical activity, which is used to enhance athletic performance, augment musculo-skeletal health and alter body aesthetics. Chronic exposure to this type of activity produces marked increases in muscular strength, which are attributed to a range of neurological and morphological adaptations. This review assesses the evidence for these adaptations, their interplay and contribution to enhanced strength and the methodologies employed. The primary morphological adaptations involve an increase in the cross-sectional area of the whole muscle and individual muscle fibres, which is due to an increase in myofibrillar size and number. Satellite cells are activated in the very early stages of training; their proliferation and later fusion with existing fibres appears to be intimately involved in the hypertrophy response. Other possible morphological adaptations include hyperplasia, changes in fibre type, muscle architecture, myofilament density and the structure of connective tissue and tendons. Indirect evidence for neurological adaptations, which encompasses learning and coordination, comes from the specificity of the training adaptation, transfer of unilateral training to the contralateral limb and imagined contractions. The apparent rise in whole-muscle specific tension has been primarily used as evidence for neurological adaptations; however, morphological factors (e.g. preferential hypertrophy of type 2 fibres, increased angle of fibre pennation, increase in radiological density) are also likely to contribute to this phenomenon. Changes in inter-muscular coordination appear critical. Adaptations in agonist muscle activation, as assessed by electromyography, tetanic stimulation and the twitch interpolation technique, suggest small, but significant increases. Enhanced firing frequency and spinal reflexes most likely explain this improvement, although there is contrary evidence

  10. [Application of psychophysics to neurology]. (United States)

    Koyama, Shinichi


    Although psychophysics has already been used in many neurological evaluations including the visual and hearing tests, the use of psychophysics has been limited to the evaluation of sensory disorders. In this review paper, however, the author introduced recent attempts to apply psychophysics to the evaluation of higher cognitive functions such as perception of scenes and facial expressions. Psychophysics was also used to measure visual hypersensitivity in a patient with migraine. The benefits of the use of psychophysics in neurological and neuropsychological settings would be as follows. (1) We can evaluate higher cognitive functions quantitatively. (2) We can measure performance both above and below the normal range by the same method. (3) We can use the same stimulus and task as other research areas such as neuroscience and neuroimaging, and compare results between research areas.

  11. Neurological diseases in famous painters. (United States)

    Piechowski-Jozwiak, Bartlomiej; Bogousslavsky, Julien


    Visual art production involves multiple processes including basic motor skills, such as coordination of movements, visual-spatial processing, emotional output, sociocultural context, and creativity. Thus, the relationship between artistic output and brain diseases is particularly complex, and brain disorders may lead to impairment of artistic production in multiple domains. Neurological conditions may also occasionally modify artistic style and lead to surprisingly innovative features in people with an initial loss of creativity. This chapter focuses on anecdotal reports of various neurological disorders and their potential consequences on works produced by famous or well-established artists, including Carl Frederik Reutersward, Giorgio de Chirico, Krystyna Habura, Leo Schnug, Ignatius Brennan, and many others. © 2013 Elsevier B.V. All rights reserved.

  12. PET and SPECT in neurology

    Energy Technology Data Exchange (ETDEWEB)

    Dierckx, Rudi A.J.O. [Groningen University Medical Center (Netherlands). Dept. of Nuclear Medicine and Molecular Imaging; Ghent Univ. (Belgium). Dept. of Radiology and Nuclear Medicine; Vries, Erik F.J. de; Waarde, Aren van [Groningen University Medical Center (Netherlands). Dept. of Nuclear Medicine and Molecular Imaging; Otte, Andreas (ed.) [Univ. of Applied Sciences Offenburg (Germany). Faculty of Electrical Engineering and Information Technology


    PET and SPECT in Neurology highlights the combined expertise of renowned authors whose dedication to the investigation of neurological disorders through nuclear medicine technology has achieved international recognition. Classical neurodegenerative disorders are discussed as well as cerebrovascular disorders, brain tumors, epilepsy, head trauma, coma, sleeping disorders, and inflammatory and infectious diseases of the CNS. The latest results in nuclear brain imaging are detailed. Most chapters are written jointly by a clinical neurologist and a nuclear medicine specialist to ensure a multidisciplinary approach. This state-of-the-art compendium will be valuable to anybody in the field of neuroscience, from the neurologist and the radiologist/nuclear medicine specialist to the interested general practitioner and geriatrician. It is the second volume of a trilogy on PET and SPECT imaging in the neurosciences, the other volumes covering PET and SPECT in psychiatry and in neurobiological systems.

  13. Proust, neurology and Stendhal's syndrome. (United States)

    Teive, Hélio A G; Munhoz, Renato P; Cardoso, Francisco


    Marcel Proust is one of the most important French writers of the 20th century. His relationship with medicine and with neurology is possibly linked to the fact that his asthma was considered to be a psychosomatic disease classified as neurasthenia. Stendhal's syndrome is a rare psychiatric syndrome characterized by anxiety and affective and thought disturbances when a person is exposed to a work of art. Here, the authors describe neurological aspects of Proust's work, particularly the occurrence of Stendhal's syndrome and syncope when he as well as one of the characters of In Search of Lost Time see Vermeer's View of Delft during a visit to a museum. © 2014 S. Karger AG, Basel.

  14. Quantitative computed tomography as a test of endurance for evaluation of bony plates; Utilizacao da tomografia computadorizada quantitativa como teste de resistencia para avaliacao de placas osseas

    Energy Technology Data Exchange (ETDEWEB)

    Melo Filho, E.V.; Costa, L.A.V.S.; Oliveira, D.C. [Universidade Federal do Parana (UFPR), Curitiba, PR (Brazil); Freitas, P.M.C. [Escola de Veterinaria - Universidade Federal de Minas Gerais - Belo Horizonte, MG (Brazil); Teixeira, M.W.; Costa, F.S. [Universidade Federal Rural de Pernambuco - Recife, PE (Brazil)


    Quantitative computed tomography was used to determine the radiodensity of bony plates. The CT scans provided information regarding radiodensity of bony plates and allowed to verify the uniformity of bone mineral density in their scope. The proposed methodology should be considered as another tool for determining the resistance of these biomaterials. (author)

  15. Neurological Findings in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Semra Paydas


    Full Text Available Myeloproliferative neoplasms (MPN arise from genetic deficiencies at the level of pluripotent stem cells. Each of these neoplasms is a clonal stem cell disorder with specific phenotypic, genetic and clinical properties. Age is one of the most important factors in the development of symptoms and complications associated with MPNs.High white blood cell counts in chronic myelocytic leukemia also known as leukocytosis may lead to central nervous system findings. Tumors developing outside the bone marrow named as extramedullary myeloid tumors (EMMT could be detected at the initial diagnosis or during the prognosis of the disease, which may cause neurological symptoms due to pressure of leukemic cell mass on various tissues along with spinal cord. Central nervous system involvement and thrombocytopenic hemorrhage may lead to diverse neurological symptoms and findings.Transient ischemic attack and thrombotic stroke are the most common symptoms in polycythemia vera. Besides thrombosis and hemorrage, transformation to acute leukemia can cause neurological symptoms and findings. Transient ischemic attack, thrombotic stroke and specifically hemorrage can give rise to neurological symptoms similar to MPN in essential thrombocytosis.Extramedullary hematopoiesis refers to hematopoietic centers arise in organ/tissues other than bone marrow in myelofibrosis. Extramedullar hematopoietic centers may cause intracranial involvement, spinal cord compression, seizures and hydrocephalia. Though rare, extramedullary hematopoiesis can be detected in cranial/spinal meninges, paraspinal tissue and intracerebral regions. Extramedullary hematopoiesis has been reported in peripheral neurons, choroid plexus, pituitary, orbits, orbital and lacrimal fossa and in sphenoidal sinuses. [Cukurova Med J 2013; 38(2.000: 157-169

  16. [Deficiency, disability, neurology and cinema]. (United States)

    Collado-Vázquez, Susana; Cano de la Cuerda, Roberto; Jiménez-Antona, Carmen


    Cinema has been defined in many different ways, but most of them agree that it should be considered both a technique and an art. Although films often depict fantasy stories, in many cases they also reflect day-to-day realities. In its earliest days cinema was already attracted to the world of health and sickness, and frequently addressed topics like medical practice, how patients lived with their illnesses, bioethical issues, the relationship between physician and patient or research. To review the presence of neurological pathologies in the cinema with a view to identifying the main neurological disorders that have been portrayed in films. Likewise it also intends to describe the medical praxis that is employed, the relationship between physician and patient, how the experiences of the patient and the family are represented, the adaptation to social and occupational situations, and the intervention of other health care professionals related with neurological patients. Some of the most significant films that have addressed these topics were reviewed and it was seen that in some of them the illness is dealt with in a very true-to-life manner, whereas others tend to include a greater number of inaccuracies and a larger degree of fiction. Cinema has helped to shape certain ways of thinking about the health care professionals who work with neurological patients, the importance of support from the family and the social role, among other things. This confirms that resorting to cinematographic productions is a fruitful tool for stimulating a critical interest in the past and present of medical practice.

  17. Prospects for neurology and psychiatry. (United States)

    Cowan, W M; Kandel, E R


    Neurological and psychiatric illnesses are among the most common and most serious health problems in developed societies. The most promising advances in neurological and psychiatric diseases will require advances in neuroscience for their elucidation, prevention, and treatment. Technical advances have improved methods for identifying brain regions involved during various types of cognitive activity, for tracing connections between parts of the brain, for visualizing individual neurons in living brain preparations, for recording the activities of neurons, and for studying the activity of single-ion channels and the receptors for various neurotransmitters. The most significant advances in the past 20 years have come from the application to the nervous system of molecular genetics and molecular cell biology. Discovery of the monogenic disorder responsible for Huntington disease and understanding its pathogenesis can serve as a paradigm for unraveling the much more complex, polygenic disorders responsible for such psychiatric diseases as schizophrenia, manic depressive illness, and borderline personality disorder. Thus, a new degree of cooperation between neurology and psychiatry is likely to result, especially for the treatment of patients with illnesses such as autism, mental retardation, cognitive disorders associated with Alzheimer and Parkinson disease that overlap between the 2 disciplines.

  18. Effect of Lumbar Progressive Resistance Exercise on Lumbar Muscular Strength and Core Muscular Endurance in Soldiers. (United States)

    Mayer, John M; Childs, John D; Neilson, Brett D; Chen, Henian; Koppenhaver, Shane L; Quillen, William S


    Low back pain is common, costly, and disabling for active duty military personnel and veterans. The evidence is unclear on which management approaches are most effective. The purpose of this study was to assess the effectiveness of lumbar extensor high-intensity progressive resistance exercise (HIPRE) training versus control on improving lumbar extension muscular strength and core muscular endurance in soldiers. A randomized controlled trial was conducted with active duty U.S. Army Soldiers (n = 582) in combat medic training at Fort Sam Houston, Texas. Soldiers were randomized by platoon to receive the experimental intervention (lumbar extensor HIPRE training, n = 298) or control intervention (core stabilization exercise training, n = 284) at one set, one time per week, for 11 weeks. Lumbar extension muscular strength and core muscular endurance were assessed before and after the intervention period. At 11-week follow-up, lumbar extension muscular strength was 9.7% greater (p = 0.001) for HIPRE compared with control. No improvements in core muscular endurance were observed for HIPRE or control. Lumbar extensor HIPRE training is effective to improve isometric lumbar extension muscular strength in U.S. Army Soldiers. Research is needed to explore the clinical relevance of these gains. Reprint & Copyright © 2016 Association of Military Surgeons of the U.S.

  19. Spinal Muscular Atrophy: A Short Review Article

    Directory of Open Access Journals (Sweden)

    Farah Ashrafzadeh


    Full Text Available Spinal muscular atrophy (SMA is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory failure, symmetric muscle atrophy and paralysis in patients with SMA. Manifestations are prominent in proximal muscle of lower extremities. There is no curative treatment for spinal muscular atrophy, and supportive treatment should be considered to improve patients’ quality of life and independency. New treatment strategies focus on gene therapy or invent method to increase survival motor neuron protein level. The aim of this study is to review Spinal muscular atrophy (SMA clinical and molecular manifestations.

  20. Mitochondrial disorders in progressive muscular dystrophies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov


    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of different progressive muscular dystrophies. It describes changes in Duchenne, limb-girdle, facial scapulohumeral (Landuzi—Degerina muscular dystrophies. The review is based on both clinical and experimental animal studies. Along with the implication of mitochondria in the pathogenesis of the diseases, it describes muscular dystrophy treatment options compensating for energy disorders and overcoming oxidative stress and mitochondrial dysfunction. Mitochondrial studies in different muscle diseases hand physicians treatment modalities that fail to lead to recovery, but compensate for disorders caused by mutations in the genetic apparatus. 

  1. Circulating Biomarkers for Duchenne Muscular Dystrophy. (United States)

    Aartsma-Rus, Annemieke; Spitali, Pietro


    Duchenne muscular dystrophy is the most common form of muscular dystrophy. Genetic and biochemical research over the years has characterized the cause, pathophysiology and development of the disease providing several potential therapeutic targets and/or biomarkers. High throughput - omic technologies have provided a comprehensive understanding of the changes occurring in dystrophic muscles. Murine and canine animal models have been a valuable source to profile muscles and body fluids, thus providing candidate biomarkers that can be evaluated in patients. This review will illustrate known circulating biomarkers that could track disease progression and response to therapy in patients affected by Duchenne muscular dystrophy. We present an overview of the transcriptomic, proteomic, metabolomics and lipidomic biomarkers described in literature. We show how studies in muscle tissue have led to the identification of serum and urine biomarkers and we highlight the importance of evaluating biomarkers as possible surrogate endpoints to facilitate regulatory processes for new medicinal products.

  2. Functional Disorders in Neurology : Case Studies

    NARCIS (Netherlands)

    Stone, Jon; Hoeritzauer, Ingrid; Gelauff, Jeannette; Lehn, Alex; Gardiner, Paula; van Gils, Anne; Carson, Alan

    Functional, often called psychogenic, disorders are common in neurological practice. We illustrate clinical issues and highlight some recent research findings using six case studies of functional neurological disorders. We discuss dizziness as a functional disorder, describing the relatively new

  3. Clinical trials in neurology: design, conduct, analysis

    National Research Council Canada - National Science Library

    Ravina, Bernard


    .... Clinical Trials in Neurology aims to improve the efficiency of clinical trials and the development of interventions in order to enhance the development of new treatments for neurologic diseases...

  4. Acute muscular weakness in children

    Directory of Open Access Journals (Sweden)

    Ricardo Pablo Javier Erazo Torricelli

    Full Text Available ABSTRACT Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/toxins, immunizations, and family history. Neurological examination must be meticulous as well. In this review, we describe the most common diseases related to acute muscle weakness, grouped into the site of origin (from the upper motor neuron to the motor unit. Early detection of hyperCKemia may lead to a myositis diagnosis, and hypokalemia points to the diagnosis of periodic paralysis. Ophthalmoparesis, ptosis and bulbar signs are suggestive of myasthenia gravis or botulism. Distal weakness and hyporeflexia are clinical features of Guillain-Barré syndrome, the most frequent cause of acute muscle weakness. If all studies are normal, a psychogenic cause should be considered. Finding the etiology of acute muscle weakness is essential to execute treatment in a timely manner, improving the prognosis of affected children.

  5. Lesiones musculares en el mundo del deporte. [Muscular injuries in the world of the sport


    María Ángeles Cardero Durán


    Resumen En el mundo del deporte y no solo en este, sino en toda la práctica de una actividad física, son muy frecuentes las lesiones musculares. Hay muchos tipos de lesiones musculares de los que hablaremos más adelante, como pueden ser desgarros musculares, calambres, contracturas etc., que tienen mayor incidencia en la musculatura poli-articular, por condiciones de acumulación de fatiga, trabajo no realizado correctamente, o condiciones ambientales desfavorables. Es importante el dia...

  6. Bony Morphology of Femoroacetabular Impingement in Young Female Dancers and Single-Sport Athletes (United States)

    Fraser, Joana L.; Sugimoto, Dai; Yen, Yi-Meng; d’Hemecourt, Pierre A.; Stracciolini, Andrea


    Background: Femoroacetabular impingement (FAI) is a painful and limiting condition of the hip that is often seen in young athletes. Previous studies have reported a higher prevalence of this disorder in male athletes, but data on the structural morphology of adolescent and young adult female athletes, specifically those involved in dance, are lacking. Purpose: (1) To investigate the radiographic morphology of FAI deformities in adolescent and young adult female single-sport dance and nondance athletes and (2) to examine the differences in the radiographic findings between these 2 groups. Study Design: Cross-sectional study; Level of evidence, 3. Methods: A retrospective chart review of 56 female single-sport athletes 10 to 21 years of age with a diagnosis of FAI within a single-sports medicine division of a pediatric academic medical center was performed. Acetabular index (AI), lateral center-edge angle (LCEA), crossover sign, and ischial spine sign were measured bilaterally on anteroposterior radiographs; alpha angle (AA) was measured on lateral films, and anterior center-edge angle (ACEA) was measured on false-profile films. Independent t tests and Mann-Whitney U tests were used to compare mean angle measurements between dance and nondance athletes. Dichotomized categorical variables and crossover and ischial spine signs were analyzed between dance and nondance athletes by applying a chi-square test. Statistical significance was set as P dance athletes were significantly greater compared with nondance athletes (33.8° ± 6.7° vs 30.9° ± 5.8° [P = .016] and 36.0° ± 8.1° vs 32.3° ± 7.0° [P = .035], respectively). No significant difference in AI was seen between the 2 cohorts (5.0° ± 4.0° for dancers vs 5.9° ± 3.4° for nondancers, P = .195). Conclusion: Significant differences existed in the radiographic bony morphology of young female single-sport dance athletes compared with nondance athletes with FAI. In dance athletes, symptoms were seen in the

  7. Cervical spinal canal narrowing and cervical neurologi-cal injuries

    Directory of Open Access Journals (Sweden)

    ZHANG Ling


    Full Text Available 【Abstract】Cervical spinal canal narrowing can lead to injury of the spinal cord and neurological symptoms in-cluding neck pain, headache, weakness and parasthesisas. According to previous and recent clinical researches, we investigated the geometric parameters of normal cervical spinal canal including the sagittal and transverse diameters as well as Torg ratio. The mean sagittal diameter of cervical spinal canal at C 1 to C 7 ranges from 15.33 mm to 20.46 mm, the mean transverse diameter at the same levels ranges from 24.45 mm to 27.00 mm and the mean value of Torg ratio is 0.96. With respect to narrow cervical spinal canal, the following charaterstics are found: firstly, extension of the cervical spine results in statistically significant stenosis as compared with the flexed or neutral positions; secondly, females sustain cervical spinal canal narrowing more easily than males; finally, the consistent narrowest cervical canal level is at C 4 for all ethnicity, but there is a slight variation in the sagittal diameter of cervical spinal stenosis (≤14 mm in Whites, ≤ 12 mm in Japanese, ≤13.7 mm in Chinese. Narrow sagittal cervical canal diameter brings about an increased risk of neurological injuries in traumatic, degenerative and inflam-matory conditions and is related with extension of cervical spine, gender, as well as ethnicity. It is hoped that this re-view will be helpful in diagnosing spinal cord and neuro-logical injuries with the geometric parameters of cervical spine in the future. Key words: Spinal cord injuries; Spinal stenosis; Trauma, nervous system

  8. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. (United States)

    Castro-Gago, Manuel; Dacruz-Alvarez, David; Pintos-Martínez, Elena; Beiras-Iglesias, Andrés; Arenas, Joaquín; Martín, Miguel Ángel; Martínez-Azorín, Francisco


    Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more intense at lower limb muscles, mildly elevated creatine kinase (CK), serum aspartate transaminase (AST) and lactate. Electromyography (EMG) showed neurogenic potentials in the proximal muscles. Histological studies of a muscle biopsy showed neurogenic atrophy with enlarged mitochondria in the periphery of the fibers, and complex I deficiency. Finally, genetic analysis showed the presence of a homozygous mutation in the gene for choline kinase beta (CHKB: NM_005198.4:c.810T>A, p.Tyr270(∗)). We describe here the second Spanish patient whit mutation in CHKB gene, who despite having the same mutation, presented an atypical aspect: congenital neurogenic muscular atrophy progressing to a combined neuropathic and myopathic phenotype (mixed pattern). Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  9. Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. (United States)

    Karaoglu, Pakize; Quizon, Nicolas; Pergande, Matthias; Wang, Haicui; Polat, Ayşe Ipek; Ersen, Ayca; Özer, Erdener; Willkomm, Lena; Hiz Kurul, Semra; Heredia, Raúl; Yis, Uluç; Selcen, Duygu; Çirak, Sebahattin


    Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes. The distinctive clinical hallmark of the dropped head led us to the diagnosis of Lamin A/C-related congenital muscular dystrophy, with a pathogenic de novo mutation p.Glu31del in the head domain of the Lamin A/C gene in both patients. Remarkably, one patient also had a central involvement with white matter changes on brain magnetic resonance imaging. Lamin A/C-related dropped-head syndrome is a rapidly progressive congenital muscular dystrophy and may lead to loss of ambulation, respiratory insufficiency, and cardiac complications. Thus, the genetic diagnosis of dropped-head syndrome as L-CMD and the implicated clinical care protocols are of vital importance for these patients. This disease may be underdiagnosed, as only a few genetically confirmed cases have been reported. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  10. Ageing and muscular dystrophy differentially affect murine pharyngeal muscles in a region-dependent manner (United States)

    Randolph, Matthew E; Luo, Qingwei; Ho, Justin; Vest, Katherine E; Sokoloff, Alan J; Pavlath, Grace K


    The inability to swallow, or dysphagia, is a debilitating and life-threatening condition that arises with ageing or disease. Dysphagia results from neurological or muscular impairment of one or more pharyngeal muscles, which function together to ensure proper swallowing and prevent the aspiration of food or liquid into the lungs. Little is known about the effects of age or disease on pharyngeal muscles as a group. Here we show ageing affected pharyngeal muscle growth and atrophy in wild-type mice depending on the particular muscle analysed. Furthermore, wild-type mice also developed dysphagia with ageing. Additionally, we studied pharyngeal muscles in a mouse model for oculopharyngeal muscular dystrophy, a dysphagic disease caused by a polyalanine expansion in the RNA binding protein, PABPN1. We examined pharyngeal muscles of mice overexpressing either wild-type A10 or mutant A17 PABPN1. Overexpression of mutant A17 PABPN1 differentially affected growth of the palatopharyngeus muscle dependent on its location within the pharynx. Interestingly, overexpression of wild-type A10 PABPN1 was protective against age-related muscle atrophy in the laryngopharynx and prevented the development of age-related dysphagia. These results demonstrate that pharyngeal muscles are differentially affected by both ageing and muscular dystrophy in a region-dependent manner. These studies lay important groundwork for understanding the molecular and cellular mechanisms that regulate pharyngeal muscle growth and atrophy, which may lead to novel therapies for individuals with dysphagia. PMID:25326455

  11. Neurological manifestaions among Sudanese patients with multiple ...

    African Journals Online (AJOL)

    The study demonstrated that the most common non- neurological symptoms was locomotor symptoms (24%) ,while the most common neurological symptoms were backache and neck pain .The most common neurological findings were cord compression (8%) followed by peripheral neuropathy (2%) and CVA (2%). 22% of ...

  12. Coraco- or Costoclavicular Paraosteoarthropathies in Patients with Severe Central Neurological Disorders

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    Lacout, A.; Mompoint, D.; Perrier, Y.; Vallee, C.A.; Carlier, R.Y. (Service de Radiologie, Hopital Raymond Poincare, Garches (France))


    Background: Paraosteoarthropathy (POA) is a frequent disabling orthopedic complication after severe central neurological impairment. The hip is the most frequently affected joint (32.1%) followed by the elbow and the shoulder (25%). Purpose: To evaluate coraco- and costoclavicular paraosteoarthropathy in patients with severe central neurological disorders. Material and Methods: We report a series of five consecutive patients with severe central neurological disorders who developed a POA of the clavicular region (coracoclavicular or costoclavicular POA). Every patient underwent a clinical, radiological, and computed tomographic (CT) examination of the shoulder region. Results: Four patients had a history of traumatic brain injury (TBI), and one an acute disseminated encephalomyelitis (ADEM). They developed POA of the clavicular region, although not around the glenohumeral joint. The patients complained of shoulder pain and of moderate limitation of movements. Radiological and CT examinations showed the presence of a bony formation in the coracoclavicular space in four cases and extending from the clavicle to the first rib around the costoclavicular joint in one case. Conclusion: In patients with severe brain lesions suffering from shoulder pain and moderate limitation of joint movements, POAs of the clavicular region are rare but should be considered

  13. Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. (United States)

    Guber, Robert D; Takyar, Varun; Kokkinis, Angela; Fox, Derrick A; Alao, Hawwa; Kats, Ilona; Bakar, Dara; Remaley, Alan T; Hewitt, Stephen M; Kleiner, David E; Liu, Chia-Ying; Hadigan, Colleen; Fischbeck, Kenneth H; Rotman, Yaron; Grunseich, Christopher


    To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA). Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were done in 4 participants with SBMA. Evidence of fatty liver disease was detected by magnetic resonance spectroscopy in all participants with SBMA in the first group, with an average dome intrahepatic triacylglycerol of 27% (range 6%-66%, ref ≤5.5%). Liver dome magnetic resonance spectroscopy measurements were significantly increased in participants with SBMA in the second group relative to age- and sex-matched controls, with average disease and male control measurements of 17% and 3%, respectively. Liver biopsies were consistent with simple steatosis in 2 participants and nonalcoholic steatohepatitis in 2 others. We observed evidence of nonalcoholic liver disease in nearly all of the participants with SBMA evaluated. These observations expand the phenotypic spectrum of the disease and provide a potential biomarker that can be monitored in future studies. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  14. An image-based method to automatically propagate bony landmarks: application to computational spine biomechanics. (United States)

    de Oliveira, Marcelo E; Netto, Luiz M G; Kistler, Michael; Brandenberger, Daniel; Büchler, Philippe; Hasler, Carol-C


    In attempts to elucidate the underlying mechanisms of spinal injuries and spinal deformities, several experimental and numerical studies have been conducted to understand the biomechanical behavior of the spine. However, numerical biomechanical studies suffer from uncertainties associated with hard- and soft-tissue anatomies. Currently, these parameters are identified manually on each mesh model prior to simulations. The determination of soft connective tissues on finite element meshes can be a tedious procedure, which limits the number of models used in the numerical studies to a few instances. In order to address these limitations, an image-based method for automatic morphing of soft connective tissues has been proposed. Results showed that the proposed method is capable to accurately determine the spatial locations of predetermined bony landmarks. The present method can be used to automatically generate patient-specific models, which may be helpful in designing studies involving a large number of instances and to understand the mechanical behavior of biomechanical structures across a given population.

  15. Relationship Between Hearing Losses with Tympanic Membran Perforations and Bony Chain Pathhologies in Chronic Otitis Media

    Directory of Open Access Journals (Sweden)

    Zeki SEZGiN


    Full Text Available Chronic otitis media ,which is identifed by tympanic membran perforation,suppurative ear discharge from the external ear canal,usually conductive type hearing loss,for more than three months ve resistant to medical treatment is an otitis media this study we investigated relationship between middle ear pathologies and hearing loss in 112 patients operated due to chronic otitis media between 1999 january and 1999 december in our clinic.Our patients were classified in two different groups as cholesteatomatous and non-cholesteatomatous chronic otitis media.Tympanic membran pathologies are classified as central,attic,total perforations,retraction and intact tympanic membran.Ossicles are classified as functional,destructed,no hearing bony structures and ossicular movement limited or fixed.Audiological tests were performed.Pure tone hearing treshould were determined.Effects about the hearing function of tympanic membran and ossiculer chaine pathologies are investigated. [J Contemp Med 2016; 6(4.000: 266-276

  16. The angular bony defect in the maintenance of the periodontal patient. (United States)

    Pontoriero, R; Nyman, S; Lindhe, J


    The present retrospective study was performed to evaluate some long-term alterations of the alveolar bone level at periodontal sites with angular and even ("horizontal") patterns of bone loss. The investigation included 48 patients who, following treatment for advanced periodontal disease, were placed in a maintenance care program which included recall appointments every 3-6 months for a period of 5 to 16 years. The material of the study comprised all teeth at which angular osseous defects (test sites) could be detected in a full-mouth series of radiographs obtained at the end of the active treatment phase. Alterations in the position of the marginal alveolar bone crest and the base of the osseous defect which took place during the maintenance period were assessed by comparing the post-treatment radiographs with a 2nd set of radiographs obtained at the final examination. In the same patients, an equal number of contralateral or neighboring teeth at which bone loss in the radiographs had an even or "horizontal" character were included as controls. The results from the assessments demonstrated that periodontal sites which, following active therapy displayed either angular or "horizontal" patterns of alveolar bone loss underwent, during a 5-16 year period of maintenance, only minor bone level alterations. Additional loss of supporting bone occurred equally frequently at sites with "horizontal" and angular patterns of bone loss. Thus, the findings reported failed to show up sites with angular bony defects as being particularly susceptible to recurrent destructive periodontitis.

  17. Bony Morphology of Femoroacetabular Impingement in Young Female Dancers and Single-Sport Athletes. (United States)

    Fraser, Joana L; Sugimoto, Dai; Beng, Yi-Men; D'Hemecourt, Pierre; Stracciolini, Andrea


    Femoroacetabular impingement (FAI) is a painful and limiting condition of the hip that is often seen in young athletes. Previous studies have reported a higher prevalence of this disorder in male athletes, but data on the structural morphology of adolescent and young adult female athletes, specifically those involved in dance, are lacking. (1) To investigate the radiographic morphology of FAI deformities in adolescent and young adult female single-sport dance and nondance athletes and (2) to examine the differences in the radiographic findings between these 2 groups. Cross-sectional study; Level of evidence, 3. A retrospective chart review of 56 female single-sport athletes 10 to 21 years of age with a diagnosis of FAI within a single-sports medicine division of a pediatric academic medical center was performed. Acetabular index (AI), lateral center-edge angle (LCEA), crossover sign, and ischial spine sign were measured bilaterally on anteroposterior radiographs; alpha angle (AA) was measured on lateral films, and anterior center-edge angle (ACEA) was measured on false-profile films. Independent t tests and Mann-Whitney U tests were used to compare mean angle measurements between dance and nondance athletes. Dichotomized categorical variables and crossover and ischial spine signs were analyzed between dance and nondance athletes by applying a chi-square test. Statistical significance was set as P sport dance athletes compared with nondance athletes with FAI. In dance athletes, symptoms were seen in the setting of normal bony morphology.

  18. Application of computer-aided designed/computer-aided manufactured techniques in reconstructing maxillofacial bony structures. (United States)

    Rustemeyer, Jan; Busch, Alexander; Sari-Rieger, Aynur


    Today, virtually planned surgery and computer-aided designed/computer-aided manufactured (CAD/CAM) tools to reconstruct bony structures are being increasingly applied to maxillofacial surgery. However, the criteria for or against the usage of the CAD/CAM technique are disputable, since no evidence-based studies are available. Theoretically, the CAD/CAM technique should be applied to complex cases. In this case report, we present our experiences and discuss the criteria for application. Three cases are reported in which subjects received an osseous reconstruction using CAD/CAM techniques. In the first case, resection of the mandibular body and ramus was carried out, and reconstruction with a vascularised iliac bone transplant was performed. During surgery, a repositioning of the ipsilateral condyle was necessary. The second case comprised a wide mandibular reconstruction together with a repositioning of the condyles and the soft tissue chin using a two-segment osteomyocutaneous fibula flap. In the third case, a two-flap technique consisting of a double-barrelled osseous fibula flap and a radial forearm flap was applied to cover a wide palatine defect. Our experience suggests that the CAD/CAM technique provides an accurate and useful treatment not only in complex cases, but also in simpler ones, to achieve an anatomically correct shape of the bone transplant and to reposition adjacent structures.

  19. In vivo hip joint contact distribution and bony impingement in normal and dysplastic human hips. (United States)

    Akiyama, Keisuke; Sakai, Takashi; Koyanagi, Junichiro; Yoshikawa, Hideki; Sugamoto, Kazuomi


    Our objectives were to clarify the 3D articular contact areas of the in vivo normal hip joint and acetabular dysplasia during specific positions using magnetic resonance imaging (MRI), voxel-based registration, and proximity mapping. Forty-two normal and 24 dysplastic hips were examined. MRI was performed at four positions: neutral; 45° flexion; 15° extension; and the Patrick position. Femur and pelvis bone models were reconstructed at the neutral position and superimposed over the images of each different position using voxel-based registration. The inferred cartilage contact and bony impingement were investigated using proximity mapping. The femoral head translated in the anterior or posteroinferior, anterosuperior, and posteroinferior direction from neutral to 45° flexion, 15° extension, and the Patrick position, respectively. Multiple regression analyses showed age, femoral head sphericity, and acetabular sphericity to be associated with higher hip instability. The present technique using subject-specific models revealed the in vivo hip joint contact area in a population of healthy individuals and dysplastic patients without radioactive exposure. These results can be used for analyzing disease progression in the dysplastic hip and pathogenesis of acetabular labral tear. Copyright © 2013 Orthopaedic Research Society.

  20. Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome. (United States)

    Evans, Kelly N; Gruss, Joseph S; Khanna, Paritosh C; Cunningham, Michael L; Cox, Timothy C; Hing, Anne V


    Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development of the first and second branchial arches (derived from hindbrain neural crest). We present a case series of 33 children with OAFNS ascertained from a comprehensive review of the literature and report an additional retrospective series of eight patients displaying features consistent with OAFNS. Notably, in a subset of our cases, we have observed abnormalities in nasal ossification and bony structures of the maxilla that have not previously described in OAFNS and are not seen in either FND or OAVS. We present the phenotype and novel naso-maxillary findings and explore potential etiologic and developmental pathways for OAFNS. We highlight the differences in phenotypic characteristics of OAFNS compared to OAVS and FND. These observations support the classification of OAFNS as a discrete syndrome. Further phenotypic refinements of OAFNS are needed to understand pathogenesis of this syndrome and the newly described nasal malformation may help identify the etiology. Copyright © 2013 Wiley Periodicals, Inc.

  1. Orbital Tumors Excision without Bony Marginotomy under Local and General Anesthesia

    Directory of Open Access Journals (Sweden)

    Robert A. Goldberg


    Full Text Available To present our experience of removing middle to deep orbital tumors using a combination of minimally invasive soft tissue approaches, sometimes under local anesthesia. Methods. In this retrospective case series, 30 patients (13 males and 17 females underwent tumor removal through eyelid crease (17 eyes, conjunctival (nine eyes, lateral canthal (two eyes, and transcaruncular (two eyes approaches. All tumors were located in the posterior half of the orbit. Six cases were removed under monitored anesthesia care with local block, and 24 were under general anesthesia. Results. The median (range age and follow-up duration were 48.5 (31–87 years old and 24.5 (4–375 weeks, respectively. Visual acuity and ocular motility showed improvement or no significant change in all but one patient at the latest followup. Confirmed pathologies revealed cavernous hemangioma (15 cases, pleomorphic adenoma (5 cases, solitary fibrous tumor (4 cases, neurofibroma (2 cases, schwannoma (2 cases, and orbital varix (1 case. None of the patients experienced recurrence. Conclusions. Creating a bony marginotomy increases intraoperative exposure of the deep orbit but adds substantial time and morbidity. Benign orbital tumors can often be removed safely through small soft-tissue incisions, without bone removal and under local anesthesia.

  2. Contact-diode laser repair of bony choanal atresia: a preliminary report. (United States)

    D'Eredità, Riccardo; Lens, Marko B


    To demonstrate the use of the contact-diode laser (CDL) at 810 nm wavelength for the transnasal endoscopic repair of bilateral bony choanal (BBCA) in low-weight newborns. Prospective study at a tertiary-care pediatric institution of four neonates with BBCA aged 3-5 days, weighing on average 2.34 kg. BBCA was opened by transnasal delivery of CDL through a 600 microm diameter glass fiber. Children were stented post-operatively, and revision surgery performed when needed. All children were successfully treated for BBCA with CDL. Two children needed only one surgery, one child needed two surgeries, and one patient required three procedures, in order to establish patient choanae at last follow-up ranging from 16 to 30 months. We found the fiber-delivered contact-diode laser to permit correction of BBCA in four low-birth weight neonates. To the best of our knowledge, this report is the first to demonstrate the successful use of CDL for the management of BBCA.

  3. Muscular and non-muscular contributions to maximum power cycling in children and adults: implications for developmental motor control


    Korff, T.; Hunter, EL; Martin, JC


    This article is available open access through the publisher’s website at the link below. During submaximal cycling, children demonstrate a different distribution between muscular and non-muscular (gravitational and motion-dependent) forces when compared with adults. This is partly due to anthropometric differences. In this study, we tested the hypothesis that during maximum power cycling, children would construct the task (in terms of the distribution between muscular and non-muscular peda...

  4. Effect of human-robot interaction on muscular synergies on healthy people and post-stroke chronic patients. (United States)

    Scano, A; Chiavenna, A; Caimmi, M; Malosio, M; Tosatti, L M; Molteni, F


    Robot-assisted training is a widely used technique to promote motor re-learning on post-stroke patients that suffer from motor impairment. While it is commonly accepted that robot-based therapies are potentially helpful, strong insights about their efficacy are still lacking. The motor re-learning process may act on muscular synergies, which are groups of co-activating muscles that, being controlled as a synergic group, allow simplifying the problem of motor control. In fact, by coordinating a reduced amount of neural signals, complex motor patterns can be elicited. This paper aims at analyzing the effects of robot assistance during 3D-reaching movements in the framework of muscular synergies. 5 healthy people and 3 neurological patients performed free and robot-assisted reaching movements at 2 different speeds (slow and quasi-physiological). EMG recordings were used to extract muscular synergies. Results indicate that the interaction with the robot very slightly alters healthy people patterns but, on the contrary, it may promote the emergency of physiological-like synergies on neurological patients.

  5. The heart in limb girdle muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, A. J.; de Voogt, W. G.; Barth, P. G.; Busch, H. F.; Jennekens, F. G.; Jongen, P. J.; de Visser, M.


    OBJECTIVE: To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes. DESIGN: In 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic strictly defined patients with limb girdle

  6. Clinical features of facioscapulohumeral muscular dystrophy 2.

    NARCIS (Netherlands)

    Greef, J.C. de; Lemmers, R.J.; Camano, P.; Day, J.W.; Sacconi, S.; Dunand, M.; Engelen, B.G.M. van; Kiuru-Enari, S.; Padberg, G.W.A.M.; Rosa, A.L.; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S.L.; Frants, R.R.; Maarel, S.M. van der; Tawil, R.


    OBJECTIVE: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with

  7. Hereditary muscular dystrophies and the heart

    NARCIS (Netherlands)

    Hermans, M. C. E.; Pinto, Y. M.; Merkies, I. S. J.; de Die-Smulders, C. E. M.; Crijns, H. J. G. M.; Faber, C. G.


    Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process. The incidence and nature of cardiac involvement vary with different

  8. Prevalence of congenital muscular dystrophy in Italy (United States)

    Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P.; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Monforte, Mauro; Minetti, Carlo; Mongini, Tiziana; Ricci, Enzo; Gorni, Ksenija; Battini, Roberta; Villanova, Marcello; Politano, Luisa; Gualandi, Francesca; Ferlini, Alessandra; Muntoni, Francesco; Santorelli, Filippo Maria; Bertini, Enrico; Pane, Marika


    Objective: We provide a nationwide population study of patients with congenital muscular dystrophy in Italy. Methods: Cases were ascertained from the databases in all the tertiary referral centers for pediatric neuromuscular disorders and from all the genetic diagnostic centers in which diagnostic tests for these forms are performed. Results: The study includes 336 patients with a point prevalence of 0.563 per 100,000. Mutations were identified in 220 of the 336 (65.5%). The cohort was subdivided into diagnostic categories based on the most recent classifications on congenital muscular dystrophies. The most common forms were those with α-dystroglycan glycosylation deficiency (40.18%) followed by those with laminin α2 deficiency (24.11%) and collagen VI deficiency (20.24%). The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively). Conclusions: Our study provides for the first time comprehensive epidemiologic information and point prevalence figures for each of the major diagnostic categories on a large cohort of congenital muscular dystrophies. The study also reflects the diagnostic progress in this field with an accurate classification of the cases according to the most recent gene discoveries. PMID:25653289

  9. A Drosophila model for Duchenne muscular dystrophy

    NARCIS (Netherlands)

    Plas, Mariska Cathelijne van der


    Duchenne Muscular Dystrophy (DMD) is a severe X-linked disease characterized by progressive muscle wasting and sometimes mild mental retardation. The disease is caused by mutations in the dystrophin gene. DMD is correlated with the absence of Dp427, which is located along the sarcolemma in skeletal

  10. Visuospatial Attention Disturbance in Duchenne Muscular Dystrophy (United States)

    De Moura, Maria Clara Drummond Soares; do Valle, Luiz Eduardo Ribeiro; Resende, Maria Bernadete Dutra; Pinto, Katia Osternack


    Aim: The cognitive deficits present in the Duchenne muscular dystrophy (DMD) are not yet well characterized. Attention, considered to be the brain mechanism responsible for the selection of sensory stimuli, could be disturbed in DMD, contributing, at least partially, to the observed global cognitive deficit. The aim of this study was to…

  11. Duchenne muscular dystrophy - a molecular service

    African Journals Online (AJOL)

    In 1987 a carrier detection and prenatal diagnostic service for. Duchenne muscular dystrophy using molecular technology was instituted at the Department of Human Genetics, Uni- versity of Cape Town, to serve affe.cted families in southern. Africa. DNA samples from 100 affected male subjects and. 350 of their relatives ...

  12. Brain Function in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap


    Full Text Available The role of dystrophin disorders in the CNS function of boys with Duchenne muscular dystrophy (DMD and the dystrophin-deficient mdx mouse, an animal model of DMD, is reviewed at the University of New South Wales, University of Sydney, Australia.

  13. Lesiones musculares en el mundo del deporte. [Muscular injuries in the world of the sport

    Directory of Open Access Journals (Sweden)

    María Ángeles Cardero Durán


    Full Text Available Resumen En el mundo del deporte y no solo en este, sino en toda la práctica de una actividad física, son muy frecuentes las lesiones musculares. Hay muchos tipos de lesiones musculares de los que hablaremos más adelante, como pueden ser desgarros musculares, calambres, contracturas etc., que tienen mayor incidencia en la musculatura poli-articular, por condiciones de acumulación de fatiga, trabajo no realizado correctamente, o condiciones ambientales desfavorables. Es importante el diagnóstico y el tratamiento precoz, para poder intervenir y conseguir que el deportista vuelva lo antes posible a su actividad y al proceso de competición. En este artículo hablaremos de los distintos tipos de lesiones musculares, de las causas y mecanismos de producción, así como del tratamiento fisioterápico que se emplea en un deportista en estos casos. Palabras claves: Lesión, músculo, deporte. Abstract In the world of the sport and not only in this one, but in the whole practice of a physical activity, the muscular injuries are very frequent. There are many types of muscular injuries about which we are going to speak later, like can be muscular tears, cramps, contractions etc. That have major incident in the musculature poly-articulate, because of conditions of accumulation of fatigue, the work not done correctly, or  unfavorable environmental conditions.  The diagnosis and the precocious treatment is important, to be able to intervene and achieve that the sportsman come back as soon as possible to the activity and to the process of competition.  In this article we are going to speak about the different types of muscular injuries, about the reasons and mechanisms of production, as well as about the physical therapy diagnosed in these cases.  Key words: Injury, muscle, sport

  14. Atypical Neurological Manifestations Of Hypokalemia

    Directory of Open Access Journals (Sweden)

    pal P K


    Full Text Available A part from the well-established syndrome of motor paralysis, hypokalemia may present with atypical neurological manifestations, which are not well documented in literature. Methods: We treated 30 patients of hypokalemia whose neurological manifestations improved after corrections of hypokalemia. A retrospective chart review of the clinical profile was done with emphasis on the evolution of symptoms and occurrence of unusual manifestations. Results: Twenty-eight patients had subacute quadriparesis with duration of symptoms varying from 10hrs to 7 days and two had slowly progressive quadriparesis. Fifty percent of patients had more than one attack of paralysis. Early asymmetric weakness (11, stiffness and abnormal posture of hands (7, predominant bibrachial weakness (4, distal paresthesias (4, hemiparesthesia (1, hyperreflexia(4, early severe weakness of neck muscles (3, chorea (1, trismus (1,and, retention of urine (1 were the unusual features observed. The means level of serum potassium on admission was 2.1+0.6mEq/L.and the serum creatine kinase was elevated in 14 out of 17 patients. All patients except two had complete recovery.

  15. Neurological complications in hyperemesis gravidarum. (United States)

    Zara, Gabriella; Codemo, Valentina; Palmieri, Arianna; Schiff, Sami; Cagnin, Annachiara; Citton, Valentina; Manara, Renzo


    Hyperemesis gravidarum can impair correct absorption of an adequate amount of thiamine and can cause electrolyte imbalance. This study investigated the neurological complications in a pregnant woman with hyperemesis gravidarum. A 29-year-old pregnant woman was admitted for hyperemesis gravidarum. Besides undernutrition, a neurological examination disclosed weakness with hyporeflexia, ophthalmoparesis, multidirectional nystagmus and optic disks swelling; the patient became rapidly comatose. Brain MRI showed symmetric signal hyperintensity and swelling of periaqueductal area, hypothalamus and mammillary bodies, medial and posterior portions of the thalamus and columns of fornix, consistent with Wernicke encephalopathy (WE). Neurophysiological studies revealed an axonal sensory-motor polyneuropathy, likely due to thiamine deficiency or critical illness polyneuropathy. Sodium and potassium supplementation and parenteral thiamine were administered with improvement of consciousness state in a few days. WE evolved in Korsakoff syndrome. A repeat MRI showed a marked improvement of WE-related alterations and a new hyperintense lesion in the pons, suggestive of central pontine myelinolysis. No sign or symptom due to involvement of the pons was present.

  16. Neurological disorders in hypertensive patients

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    N. V. Vakhnina


    Full Text Available Hypertension is one of the most common vascular diseases. The brain as target organs in hypertension is damaged more often and earlier. Neurological complications due to hypertension are frequently hyperdiagnosed in Russian neurological practice. Thus, headache, dizziness, impaired recall of recent events, nocturnal sleep disorders, and many other complaints in a hypertensive patient are usually regarded as a manifestation of dyscirculatory encephalopathy. At the same time headaches (tension headache and migraine in hypertensive patients are predominantly primary; headache associated with dramatic marked elevations in blood pressure is encountered in only a small number of patients. The role of cerebrovascular diseases in the development of dizziness in hypertensive patients is also overestimated. The vast majority of cases, patients with this complaint are in fact identified to have benign paroxysmal postural vertigo, Mеniеre’s disease, vestibular neuronitis, or vestibular migraine. Psychogenic disorders or multisensory insufficiency are generally responsible for non-systemic vertigo in hypertensive patients. Chronic cerebral circulatory insufficiency may cause non-systemic vertigo as a subjective equivalent of postural instability.Cognitive impairments (CIs are the most common and earliest manifestation of cerebrovascular lesion in hypertension. In most cases, CIs in hypertension were vascular and associated with cerebrovascular lesion due to lacunar infarcts and leukoaraiosis. However, mixed CIs frequently occur when hypertensive patients are also found to have signs of a degenerative disease, most commonly in Alzheimer’s disease.

  17. [Oliver Sacks and literary neurology]. (United States)

    Guardiola, Elena; Banos, Josep E


    Popular medical literature attempts to discuss medical topics using a language that is, as far as possible, free of all medical jargon so as to make it more easily understandable by the general public. The very complexity of neurology makes it more difficult for the stories dealing with this specialty to be understood easily by an audience without any kind of medical training. This paper reviews the works written by Oliver Sacks involving the field of neurology aimed at the general public, and the main characteristics and the clinical situation discussed by the author are presented. Some biographical notes about Oliver Sacks are also included and the 11 books published by this author over the last 40 years are also analysed. In each case they are put into a historical context and the most outstanding aspects justifying what makes them an interesting read are commented on. In most cases, the genesis of the work is explained together with its most significant features. The works of Sacks contain a wide range of very interesting clinical situations that are usually explained by means of a language that is readily comprehensible to the general public. It also provides neurologists with a holistic view of different clinical situations, together with a discussion of their biographical, historical and developmental components.

  18. Arthroscopic Suture Anchor Fixation of Bony Bankart Lesions: Clinical Outcome, Magnetic Resonance Imaging Results, and Return to Sports. (United States)

    Plath, Johannes E; Feucht, Matthias J; Bangoj, Robert; Martetschläger, Frank; Wörtler, Klaus; Seppel, Gernot; Aboalata, Mohamed; Tischer, Thomas; Imhoff, Andreas B; Vogt, Stephan


    The purpose of this study was to evaluate the outcome, return to sporting activity, and postoperative articular cartilage and bony morphology of shoulders that underwent arthroscopic suture anchor repair of bony Bankart lesions. The inclusion criteria for this retrospective study were anterior glenoid rim fractures after traumatic shoulder instability that were treated with arthroscopic suture anchor repair. Patients were surveyed by a questionnaire including sport-specific outcome, Rowe score, Western Ontario Shoulder Instability Index, and Oxford Instability Score. Three-tesla magnetic resonance imaging could be performed in 30 patients to assess osseous integration, glenoid reconstruction, and signs of osteoarthritis. From November 1999 to April 2010, 81 patients underwent an anterior bony Bankart repair in our department (50 arthroscopic suture anchor repairs, 5 arthroscopic screw fixations, and 26 open repairs). The 55 arthroscopic repairs comprised a consecutive cohort of patients treated by a single surgeon. Of the 50 patients in the suture anchor group, 45 (90%) were available for evaluation. At 82 ± 31 months postoperatively, the mean Rowe score was 85.9 ± 20.5 points, the mean Western Ontario Shoulder Instability Index score was 89.4% ± 14.7%, and the mean Oxford Instability Score was 13.6 ± 5.4 points. Compared with the contralateral shoulder, all scores showed a significantly reduced outcome (P suture anchor repair may enable an anatomic reduction of bony Bankart lesions with no or only minimal articular steps and provides successful midterm outcomes concerning clinical scores, recurrence, and patient satisfaction. The return to activity is limited for various, mostly non-shoulder-related causes. Chronic lesions may have an inferior healing potential; therefore early surgical stabilization of acute Bankart fragments is suggested to avoid possible nonunion. Level IV, therapeutic case series. Copyright © 2015 Arthroscopy Association of North America

  19. Unusual morphology of scapulae: incidence and dimensions of ossified ligaments and supraspinous bony tunnels for clinical consideration. (United States)

    Kharay, Sonia Singh; Sharma, Anu; Singh, Poonam


    Knowledge of morphological variations of the suprascapular region is important in the management of entrapment neuropathy and interventional procedures. The objective of this study was to collect data on the morphological features and dimensions of ossified ligaments and unusual bony tunnels of scapulae from a North Indian population. A total of 268 adult human scapulae of unknown gender were obtained from the bone bank of the Department of Anatomy, Dayanand Medical College and Hospital, Ludhiana, Punjab, India. The scapulae were evaluated for the incidence of ossified superior transverse scapular ligaments (STSLs), ossified inferior transverse scapular ligaments (ITSLs) and bony tunnels (i.e. the bony canal between the suprascapular notch and spinoglenoid notch), found along the course of the suprascapular nerve (SSN). The dimensions of these structures were measured and noted down. Ossified STSLs were classified based on their shape (i.e. fan- or band-shaped) and the dimensions of the ossified suprascapular openings (SSOs) were measured. Ossified STSLs were present in 26 (9.7%) scapulae. Among the 26 scapulae, 16 (61.5%) were fan-shaped (mean area of SSO 16.6 mm(2)) and 10 (38.5%) were band-shaped (mean area of SSO 34.2 mm(2)). Bony tunnels were observed in 2 (0.75%) specimens, while an ossified ITSL was observed in 1 (0.37%) specimen. The data obtained in the present study augments the reference literature for SSN decompression and the existing anatomical databases, especially those on Indian populations. This data is useful to clinicians, radiologists and orthopaedic surgeons. Copyright © Singapore Medical Association.

  20. Morphoscopic analysis of experimentally produced bony wounds from low-velocity ballistic impact. (United States)

    Kieser, Jules A; Tahere, Joy; Agnew, Caitlin; Kieser, David C; Duncan, Warwick; Swain, Michael V; Reeves, Matthew T


    Understanding how bone behaves when subjected to ballistic impact is of critical importance for forensic questions, such as the reconstruction of shooting events. Yet the literature addressing microscopic anatomical features of gunshot wounds to different types of bone is sparse. Moreover, a biomechanical framework for describing how the complex architecture of bone affects its failure during such impact is lacking. The aim of this study was to examine the morphological features associated with experimental gunshot wounds in slaughtered pig ribs. We shot the 4th rib of 12 adult pigs with .22 mm subsonic bullets at close range (5 cm) and examined resultant wounds under the light microscope, scanning electron microscope SEM and micro tomograph μCT. In all cases there was a narrow shot channel followed by spall region, with evidence of plastic deformation with burnishing of the surface bone in the former, and brittle fracture around and through individual Haversian systems in the latter. In all but one case, the entrance wounds were characterized by superficially fractured cortical bone in the form of a well-defined collar, while the exit wounds showed delamination of the periosteum. Inorganic residue was evident in all cases, with electron energy dispersive spectroscopy EDS confirming the presence of carbon, phosphate, lead and calcium. This material appeared to be especially concentrated within the fractured bony collar at the entrance. We conclude that gunshot wounds in flat bones may be morphologically divided into a thin burnished zone at the entry site, and a fracture zone at the exit.

  1. Does bony increased-offset reverse shoulder arthroplasty decrease scapular notching? (United States)

    Athwal, George S; MacDermid, Joy C; Reddy, K Murali; Marsh, Jonathan P; Faber, Kenneth J; Drosdowech, Darren


    The purpose of this cohort study was to compare scapular notching rates, range of motion, and functional outcomes between patients who underwent a standard Grammont-style reverse shoulder arthroplasty (RSA) and patients who underwent bony increased-offset reverse shoulder arthroplasty (BIO-RSA) at a minimum of 2 years' follow-up. We hypothesized that the BIO-RSA cohort would have lower notching rates and improved rotational range of motion; however, validated outcome scores between cohorts would be no different. A comparative cohort study was designed after a sample size calculation. A total of 40 patients were studied with 20 in each cohort (RSA vs BIO-RSA). All patients underwent an interview and physical examination. Outcomes included range of motion; shoulder strength; Disabilities of the Arm, Shoulder and Hand (DASH) score; American Shoulder and Elbow Surgeons score; Simple Shoulder Test score; Constant score; and Global Rating of Change scale score. Radiographs were obtained for all patients and examined for scapular notching. When we compared demographic characteristics between the standard RSA and BIO-RSA cohorts, including age, sex, and follow-up duration, there were no significant differences between groups (P > .05). In addition, there were no significant differences between cohorts when we compared forward elevation (P = .418); external rotation (P = .999); internal rotation (P = .071); strength (P > .376); Disabilities of the Arm, Shoulder and Hand score (P = .229); American Shoulder and Elbow Surgeons score (P = .579); Simple Shoulder Test score (P = .522); Constant score (P = .917); or Global Rating of Change scale score (P = .167). The frequency of scapular notching, however, was significantly higher (P = .022) in the RSA cohort than in the BIO-RSA cohort: 75% versus 40%. Although the scapular notching rate was significantly higher in the standard RSA group, no other outcome measures were statistically different, including range of motion, strength

  2. Selective pressures in the human bony pelvis: Decoupling sexual dimorphism in the anterior and posterior spaces. (United States)

    Brown, Kirsten M


    Sexual dimorphism in the human bony pelvis is commonly assumed to be related to the intensity of obstetrical selective pressures. With intense obstetrical selective pressures, there should be greater shape dimorphism; with minimal obstetrical selective pressures, there should be reduced shape dimorphism. This pattern is seen in the nondimorphic anterior spaces and highly dimorphic posterior spaces. Decoupling sexual dimorphism in these spaces may in turn be related to the differential influence of other selective pressures, such as biomechanical ones. The relationship between sexual dimorphism and selective pressures in the human pelvis was examined using five skeletal samples (total female n = 101; male n = 103). Pelvic shape was quantified by collecting landmark coordinate data on articulated pelves. Euclidean distance matrix analysis was used to extract the distances that defined the anterior and posterior pelvic spaces. Sex and body mass were used as proxies for obstetrical and biomechanical selective pressures, respectively. MANCOVA analyses demonstrate significant effects of sex and body mass on distances in both the anterior and the posterior spaces. A comparison of the relative contribution of shape variance attributed to each of these factors suggests that the posterior space is more influenced by sex, and obstetrics by proxy, whereas the anterior space is more influenced by body mass, and biomechanics by proxy. Although the overall shape of the pelvis has been influenced by obstetrical and biomechanical selective pressures, there is a differential response within the pelvis to these factors. These results provide new insight into the ongoing debate on the obstetrical dilemma hypothesis. © 2015 Wiley Periodicals, Inc.

  3. Spontaneous closure of muscular ventricular septal defects

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    Pejčić Ljiljana


    Full Text Available Introduction/Objective. Ventricular septal defect (VSD is the most frequently diagnosed congenital heart anomaly. The prognosis is usually good as it has spontaneous closure evolution, especially small muscular VSDs. The aim of this study was to determine the natural history of isolated muscular VSDs including the frequency of spontaneous closure in relation to location in the muscular septum and the age at the time of closure. Methods. The study included 96 children (52 girls and 44 boys with isolated muscular VSD diagnosed during the first month of life. We analyzed the tendency of spontaneous closure of these defects for the duration of childhood during a follow-up period of 16 years. Two-dimensional color Doppler echocardiography was performed to detect muscular VSD as a primary cardiac lesion. There was significant prevalence of small apical versus trabecular defects and their outcomes were evaluated. Results. Our study evaluated 91 children, 49 (53.8% girls and 42 (46.2% boys who did not undergo surgery. Apically located VSD was diagnosed in 68 (74.7%, while trabecular defects were found in 23 (25.3% children. Spontaneous closure occurred in 56 out of 91 cases (61.5%. The time of spontaneous closure was most commonly recorded during the first six months after birth (46.4%. The overall rate of spontaneous closure was 81.3% by the end of the first year. Apically located ventricular defects underwent spontaneous closure in the majority of patients, in comparison to trabecular ventricular defects (χ2 = 12.581; p < 0.001. Kaplan–Meier analysis demonstrated a significant difference in the average time required for spontaneous closure between the analyzed patient groups (log-rank = 9.64, p = 0.002. Conclusion. The frequency of spontaneous closure of muscular VSDs, especially apically located, is very high in the first six months, especially within the first year of life. It is advisable to detect them early on using color flow imaging and to

  4. [Post-ischemia neurologic recovery]. (United States)

    Guiraud-Chaumeil, Bernard; Pariente, Jérémie; Albucher, Jean-François; Loubinoux, Isabelle; Chollet, François


    Stroke is one of the most common affliction of patients with neurological symptoms. Rehabilitation of stroke patients is a difficult task. Our knowledge on rehabilitation has recently improved with the emergence of data from new neuroimaging techniques. A prospective, double blind, cross over, placebo, controlled study on 8 patients with pure motor hemiparesia, is conducted to determine the influence of a single dose of fluoxetine on motor performance and cerebral activation of patients recovering from stroke. Each patient undergoes two functional magnetic resonance imaging (fMRI) examinations, one under fluoxetine and one under placebo. A single dose of fluoxetine is enough to modulate cerebral sensori-motor activation and significantly improves motor skills of the affected side. Further studies are required to investigate the effect of chronic administration of fluoxetine on motor function.

  5. Neurology of foreign language aptitude

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    Adriana Biedroń


    Full Text Available This state-of-the art paper focuses on the poorly explored issue of foreign language aptitude, attempting to present the latest developments in this field and reconceptualizations of the construct from the perspective of neuroscience. In accordance with this goal, it first discusses general directions in neurolinguistic research on foreign language aptitude, starting with the earliest attempts to define the neurological substrate for talent, sources of difficulties in the neurolinguistic research on foreign language aptitude and modern research methods. This is followed by the discussion of the research on the phonology of foreign language aptitude with emphasis on functional and structural studies as well as their consequences for the knowledge of the concept. The subsequent section presents the studies which focus on lexical and morphosyntactic aspects of foreign language aptitude. The paper ends with a discussion of the limitations of contemporary research, the future directions of such research and selec ed methodological issues.

  6. Aphasia, Just a Neurological Disorder?

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    Mehmet Ozdemir


    Full Text Available Hashimoto%u2019s encephalopathy (HE is a rare disorder associated with autoimmune thyroiditis. Etiology of HE is not completely understood. High levels of serum antithyroid antibodies are seen in HE. Presentation with otoimmune thyroiditis, cognitive impairment, psychiatric and neurologic symptoms and absence of bacterial or viral enfections are characteristics of HE. HE is a steroid responsive encephalopathy. 60 years old male patient admitted to hospital with forget fulness continuing for 9 months and speech loss starting 2 days ago. Strong positivity of antithyroid antibodies increases the odds for HE. Thyroid function tests showed severe hypothyroidism. Electroencephalography and magnetic resonance imaging results were compatible with HE. HE is diagnosed with differantial diagnosis and exclusion of other reasons. This uncommon disorder is not recognised enough. High titres of serum antithyroid antiboides are always needed for diagnosis. Correct diagnosis requires awareness of wide range of cognitive and clinical presentations of HE.

  7. Porphyria and its neurologic manifestations. (United States)

    Tracy, Jennifer A; Dyck, P James B


    Porphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestations. The presence of a motor-predominant peripheral neuropathy (axonal predominant), accompanied by gastrointestinal distress and neuropsychiatric manifestations, should be a strong clue to the diagnosis of porphyria. Clinical confirmation can be made through evaluation of urine porphyrins during an exacerbation of disease. While hematin is helpful for acute treatment, long-term effective management requires avoidance of overstimulation of the cytochrome P450 pathway, as well as other risk factor control. © 2014 Elsevier B.V. All rights reserved.

  8. Anesthesia in neurologic and psychiatric diseases: is there a 'best anesthesia' for certain diseases? (United States)

    Hachenberg, Thomas; Schneemilch, Christine


    Patients with diseases affecting the central nervous system present a wide range of clinical manifestations increasing the perioperative risk. The following review focused on recommendations for anaesthesiological management in patients with both neurologic and psychiatric diseases. The heterogeneity of disorders affecting the central nervous system and the variability of comorbidities make definition of standards for anaesthesiological management difficult. Anatomical malpositions, pulmonary and cardiac co-morbidities determine the perioperative risk. Patients require a careful preoperative assessment, including interdisciplinary communication between neurologists, psychiatrists or paediatric physicians. Adequate devices and equipment for airway management should be available before induction of general anesthesia. For premedication in patients with limited respiratory function, clonidine, given orally, is a good alternative. The use of short-acting hypnotic and analgesic drugs (e.g. propofol/remifentanil) can be safely administered for induction and maintenance of anesthesia. The use of volatile agents and succinylcholine is strictly avoided in patients with muscular dystrophy and myopathies. Peripheral and neuroaxial regional anesthesia is not contraindicated in patients with neuromuscular diseases unless there is a rapid deterioration of the neurological status. The 'best' anesthesia includes adequate preoperative evaluation of the individual risk, optimization of comorbidities before elective surgery, the use of short-acting anesthetic agents for induction and maintenance of general anesthesia, avoidance of volatile agents and succinylcholine in muscular dystrophy and myopathies.

  9. Limiting exercise inhibits neuronal recovery from neurological disorders

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    Stefan S Anthony


    Full Text Available Patients who are bedridden often suffer from muscular atrophy due to reduced daily activities and can become depressed. However, patients who undergo physical therapy sometimes demonstrate positive benefits including a reduction of stressful and depressed behavior. Regenerative medicine has seen improvements in two stem cell-based therapies for central nervous system disorders. One therapy is through the transfer of exogenous stem cells. The other therapy is a more natural method and focuses on the increasing endogenous neurogenesis and restoring the neurological impairments. This study overviews how immobilization-induced disuse atrophy affects neurogenesis in rats, specifically hypothesizing that immobilization diminishes circulating trophic factor levels, like vascular endothelial growth factors or brain-derived neurotrophic factor, which in turn limits neurogenesis. This hypothesis requires the classification of the stem cell microenvironment by probing growth factors in addition to other stress-related proteins that correlate with exercise-induced neurogenesis. There is research examining the effects of increased exercise on neurogenesis while limiting exercise, which better demonstrates the pathological states of immobile stroke patients, remains relatively unexplored. To examine the effects of immobilization on neurogenesis quantitative measurements of movements, 5-bromo-2deoxyuridine labeling of proliferative cells, biochemical assays of serum, cerebrospinal fluid and neurological levels of trophic factors, growth factors, and stress-related proteins will indicate levels of neurogenesis. In further research, studies are needed to show how in vivo stimulation, or lack thereof, affects stem cell microenvironments to advance treatment procedures for strengthening neurogenesis in bedridden patients. This paper is a review article. Referred literature in this paper has been listed in the references section. The datasets supporting the

  10. Radiological findings correlate with neurological deficits but not with pain after operatively treated sacral fractures (United States)

    Tötterman, Anna; Hellund, Johan C; Glott, Thomas; Madsen, Jan Erik; Røise, Olav


    Background and purpose Neurological deficits and pain are common after displaced sacral fractures. However, little is known about the association between the long-term clinical outcomes and radiological findings. We examined the long-term radiological findings and their correlations with lumbosacral pain and neurological deficits in the lower extremities after surgery for sacral fractures. Methods 28 consecutive patients with operatively treated displaced sacral fractures were followed for mean 11 (8–13) years. Sensorimotor impairments of the lower extremities were classified according to the American Spinal Injury Association (ASIA). Pain was assessed using a visual analog scale (VAS). All patients underwent conventional radiographic examination and CT, and the images were scrutinized for nonunion, residual displacement, narrowing of the sacral foramina, and post-foraminal encroachment of the L5 and S1 nerves. Results There was residual displacement of ≥ 10 mm in 16 of the 28 patients. 26 patients had narrowing of 1 or more neural root foramina in L5-S4. 8 patients reported having no pain, 11 had pain only in the lumbosacral area, and 9 had pain in combination with radiating leg pain. Statistically significant correlations were found between narrowing of the sacral foramina and neurological deficits in the corresponding dermatomes. Significant correlations were also found between post-foraminal encroachment of L5 nerves and both sensory and motor deficits. No correlations were found between pain and radiological findings. Interpretation Pathological radiological findings are common 11 years after operatively treated displaced sacral fractures. Sacral foraminal and L5 post-foraminal bony encroachments were common findings and correlated with neurological deficits. However, lumbosacral pain did not correlate with radiological sequelae after fracture healing. PMID:24694272

  11. Pediatric neurology of the dog and cat. (United States)

    Lavely, James A


    The neurologic examination in the puppy or kitten can be a challenging experience. Understanding the development of behavior reflexes and movement in puppies and kittens enables us to overcome some of these challenges and to recognize the neurologically abnormal patient. Subsequently,we can identify the neuroanatomic localization and generate a differential diagnosis list. This article first reviews the pediatric neurologic examination and then discusses diseases unique to these individuals.

  12. Pain characterization in Duchenne muscular dystrophy

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    Talita Dias da Silva

    Full Text Available ABSTRACT Duchenne muscular dystrophy (DMD is an X-linked recessive disorder, characterized by progressive muscle weakness. Historically, pain has not been considered to be a major symptom in DMD. Objective To investigate the relationship between DMD and pain. Methods We conducted a systematic review in Medline/PubMed and BVS (virtual library in health databases. We searched for articles that showed the terms “Muscular Dystrophy, Duchenne” and “Pain” in all fields. All studies included boys diagnosed with DMD and the occurrence/amount of pain on this population. Results Initially, there were 175 studies. 167 articles were excluded for not meeting the inclusion criteria. The remaining eight eligible studies, involving pain assessment in DMD, were analyzed. Conclusion Pain is a frequent problem in this population and this symptom is potentially tractable. Studies conclude that pain can directly influence the quality of life of this population.

  13. Sleep Disordered Breathing in Duchenne Muscular Dystrophy. (United States)

    LoMauro, Antonella; D'Angelo, Maria Grazia; Aliverti, Andrea


    This review aims to explain the inevitable imbalance between respiratory load, drive, and muscular force that occurs in the natural aging of Duchenne muscular dystrophy and that predisposes these patients to sleep disordered breathing (SDB). In DMD, SDB is characterized by oxygen desaturation, apneas, hypercapnia, and hypoventilation during sleep and ultimately develops into respiratory failure during wakefulness. It can be present in all age groups. Young patients risk obstructive apneas because of weight gain, secondary to progressive physical inactivity and prolonged corticosteroid therapy; older patients hypoventilate and desaturate because of respiratory muscle weakness, in particular the diaphragm. These conditions are further exacerbated during REM sleep, the phase of maximal muscle hypotonia during which the diaphragm has to provide most of the ventilation. Evidence is given to the daytime predictors of early symptoms of SDB, important indicators for the proper time to initiate mechanical ventilation.

  14. The immediate effect of kinesiology taping on muscular imbalance for infants with congenital muscular torticollis. (United States)

    Öhman, Anna M


    To investigate the immediate effect of kinesiology taping (KT) on muscular imbalance in the lateral flexors of the neck. A retrospective study. Twenty-eight infants with congenital muscular torticollis and muscular imbalance in the lateral flexors of the neck were chosen consecutively. Data regarding the Muscle Function Scale (MFS) score before and after the first taping session were obtained from the records. A significant decrease in the difference between the MFS scores was found after KT was applied (P < .001). Significantly greater scores were noted on the unaffected side after KT (P = .02) and significantly lower scores were noted on the affected side after KT (P = .003). Multiple regression demonstrated that the MFS score on the unaffected side (P < .001) and use of the muscle-relaxing technique (P = .009) were significantly associated with a decrease in the difference between the MFS scores of the 2 sides. KT has an immediate effect on muscular imbalance in infants with congenital muscular torticollis. Copyright © 2012 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  15. A lesão muscular na miastenia grave: estudo de 17 casos com histoquimica muscular

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    Lineu Cesar Werneck


    Full Text Available Estudo de 17 biópsias musculares de pacientes com miastenia grave, utilizando técnicas de coloração a fresco e histoquímica muscular. Foram encontradas 15 biópsias musculares anormais, sendo que as principais alterações foram fibras musculares angulares escuras atróficas, excesso de gotículas de gordura na membrana externa das fibras, variação no diâmetro das fibras e atrofia de fibras do tipo II. Os achados foram interpretados como denervação em 11 biópsias, atrofia de fibras do tipo II em 7, infiltrado linfocitário em 4, necrose de fibras musculares com fagocitose em 1 e em 2 biópsias não foi encontrada qualquer anormalidade. Quanto maior o tempo de doença, mais severa foi a anormalidade encontrada. Dois pacientes apresentavam timoma, um miastenia grave congênita, um artrite reumatoide, um neurite hipertrófica intersticial, um tireoidite de Hashimoto e um com síndrome miastênica concomitante. São discutidos os achados anatomopatológicos e sua possível explicação.

  16. Sleep Disorders in Childhood Neurological Diseases

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    Abdullah Tolaymat


    Full Text Available Sleep problems are frequently addressed as a primary or secondary concern during the visit to the pediatric neurology clinic. Sleep disorders can mimic other neurologic diseases (e.g., epilepsy and movement disorders, and this adds challenges to the diagnostic process. Sleep disorders can significantly affect the quality of life and functionality of children in general and those with comorbid neurological diseases in particular. Understanding the pathophysiology of sleep disorders, recognizing the implications of sleep disorder in children with neurologic diseases and behavioral difficulties, and early intervention continue to evolve resulting in better neurocognitive outcomes.

  17. Challenges in neurological practice in developing countries. (United States)

    Pandey, Sanjay


    The burden of neurological illness is much higher in developing countries. Neurological disorders in these countries are mainly due to poverty and malnutrition. Spectrums of diseases are also different in comparison with developed countries. Lack of resources, ignorance, and overpopulation make it very difficult and challenging to tackle this problem. Majority of the patients are seen by general practitioners who have little knowledge about neurological illnesses. Most of the countries have very few or no neurologist. There is a greater need of taking neurological care at primary care level where majority of the patients struggle with epilepsy, stroke and neuroinfections.

  18. Muscular cysticercosis: Case report and imaging findings

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    Olmo, Neide Regina Simoes; Fiorio, Ulysses Ferreira; Clemente, Marcel Andreazza, E-mail: [Clinica Mult Imagem, Santos, SP (Brazil); Bastos, Eder Amaral [Universidade Metropolitana de Santos (UNIMES), Santos, SP (Brazil); Mendes, Gustavo Gomes [AC Camargo Cancer Center, Sao Paulo, SP (Brazil)


    Cysticercosis is a parasitic disease caused by a worm of the Cestoda class. The most prevalent form affects the nervous system. This case report is from a 78-year old female patient evaluated at Clinica Mult Imagem, in the city of Santos, Brazil, who presented a form of the disease that differed from the classic neurocysticercosis, in this case muscular cysticercosis. This and other forms of manifestation justify further studies to ensure adequate recognition, diagnosis and treatment of this parasitic disease. (author)

  19. Rehabilitation therapy of Duchenne muscular dystrophy


    ZHANG Cheng; YANG Juan


    It is very important that the rehabilitation therapy of Duchenne muscular dystrophy (DMD) can improve the quality of life and delay the disease progression. There are the guidelines for DMD rehabilitation therapy in some countries, but it is not emphasized by clinical doctors in our country. According to our experiences to DMD rehabilitation therapy, we reviewed the progress of DMD rehabilitation therapy. It includes the clinical stages and characteristics of DMD, the general principle and th...

  20. The burden of Duchenne muscular dystrophy


    Landfeldt, Erik; Lindgren, Peter; Bell, Christopher F.; Schmitt, Claude; Guglieri, Michela; Straub, Volker; Lochmüller, Hanns; Bushby, Katharine


    Objective: The objective of this study was to estimate the total cost of illness and economic burden of Duchenne muscular dystrophy (DMD). Methods: Patients with DMD from Germany, Italy, United Kingdom, and United States were identified through Translational Research in Europe–Assessment & Treatment of Neuromuscular Diseases registries and invited to complete a questionnaire online together with a caregiver. Data on health care use, quality of life, work status, informal care, and household e...

  1. Urological manifestations of Duchenne muscular dystrophy. (United States)

    Askeland, Eric J; Arlen, Angela M; Erickson, Bradley A; Mathews, Katherine D; Cooper, Christopher S


    Duchenne muscular dystrophy is a dystrophinopathy affecting males that is associated with multiple organ system complications. To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date. We reviewed the medical charts of 135 patients with Duchenne or Duchenne-Becker muscular dystrophy for demographics and disease progression, urological diagnoses, intervention and followup. Of 135 patients 67 (50%) had at least 1 documented urological diagnosis and 38 (28%) had multiple manifestations. Lower urinary tract symptoms were the most common urological diagnosis (32% of patients). Survival analysis revealed a median age at onset of lower urinary tract symptoms of 23 years (95% CI 17.7-23.9). Intervention was required in 12 patients (9%), most commonly due to nephrolithiasis. Urological morbidity increased with Duchenne muscular dystrophy progression when stratified by clinical progression. Lower urinary tract symptoms were more common in nonambulatory patients (40.7% vs 19%, p = 0.007), those with a diagnosis of scoliosis (44% vs 19.7%, p = 0.003) and/or scoliosis spine surgery (60% vs 22%, p <0.001), and those on invasive respiratory support (53% vs 29%, p = 0.046). Likewise, nephrolithiasis was more common in nonambulatory patients (10% vs 0%, p = 0.017), those with scoliosis (12% vs 0%, p = 0.004) and/or scoliosis spine surgery (20% vs 1%, p <0.001), and those on invasive respiratory support (29% vs 3%, p <0.001). Only 28% of patients with a urological manifestation were referred to urology. As these patients transition into adolescence and adulthood, the increased prevalence of urological manifestations warrants increased awareness and referral to urologists. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  2. Intra-muscular hemangioma: A review

    Directory of Open Access Journals (Sweden)

    Shruti Nayak


    Full Text Available Intra-muscular hemangiomas (IMH are relatively uncommon benign vascular tumors, which account for less than 1% of all hemangiomas. IMH may be presented as a perceived sporting injury. Diagnosis of this lesion is important not only because of its rarity, but also due to dangers posed by misdiagnosis and mismanagement. They must be considered in the differential diagnosis of unexplained pain and swelling in muscles. IMH occurring in the oral cavity is reviewed below.

  3. Proximal spinal muscular atrophy: current orthopedic perspective

    Directory of Open Access Journals (Sweden)

    Haaker G


    Full Text Available Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach. Keywords: spinal muscular atrophy, scoliosis, contractures, fractures, lung function, treatment, rehabilitation, surgery, ventilation, nutrition, perioperative management

  4. Gene therapy for Duchenne muscular dystrophy. (United States)

    Verhaart, Ingrid E C; Aartsma-Rus, Annemieke


    Duchenne muscular dystrophy is a severe neuromuscular disorder for which there is currently no cure. Years of research have come to fruition during the past 18 months with publications on clinical trials for several gene therapy approaches for Duchenne muscular dystrophy. This review covers the present status of these approaches. The exon skipping approach is most advanced in the process of clinical application. Encouraging results have been obtained in two systemic clinical trials and further optimization has increased delivery to the heart in animal models. Limitations of the approach are the mutation-specificity and the anticipated requirement for lifelong treatment. Gene therapy by means of gene transfer holds the promise of more long-lasting effects. Results of a first, early-stage gene therapy trial, using viral vectors to deliver a minidystrophin gene, were reported. Animal studies suggest that it may be possible to overcome the main challenges currently facing gene therapy (immunogenicity of the vector and systemic body-wide delivery). Significant steps have been made in the development of gene therapy approaches for Duchenne muscular dystrophy. These approaches aim to slow down disease progression, requiring robust outcome measures to assess efficacy.

  5. Muscle MRI findings in facioscapulohumeral muscular dystrophy. (United States)

    Gerevini, Simonetta; Scarlato, Marina; Maggi, Lorenzo; Cava, Mariangela; Caliendo, Giandomenico; Pasanisi, Barbara; Falini, Andrea; Previtali, Stefano Carlo; Morandi, Lucia


    Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations. Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD). In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients. In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease. Muscle MRI identifies a specific pattern of muscle involvement in FSHD patients. Muscle MRI may predict FSHD in asymptomatic and severely affected patients. Muscle MRI of upper girdle better predicts FSHD. Muscle MRI may differentiate FSHD from other forms of muscular dystrophy. Muscle MRI may show the involvement of non-clinical testable muscles.

  6. Surgically Relevant Bony and Soft Tissue Anatomy of the Proximal Femur (United States)

    Philippon, Marc J.; Michalski, Max P.; Campbell, Kevin J.; Goldsmith, Mary T.; Devitt, Brian M.; Wijdicks, Coen A.; LaPrade, Robert F.


    Background: Hip endoscopy facilitates the treatment of extra-articular disorders of the proximal femur. Unfortunately, current knowledge of proximal femur anatomy is limited to qualitative descriptions and lacks surgically relevant landmarks. Purpose: To provide a quantitative and qualitative analysis of proximal femur anatomy in reference to surgically relevant bony landmarks. Study Design: Descriptive laboratory study. Methods: Fourteen cadaveric hemipelvises were dissected. A coordinate measuring device measured dimensions and interrelationships of the gluteal muscles, hip external rotators, pectineus, iliopsoas, and joint capsule in reference to osseous landmarks. Results: The vastus tubercle, superomedial border of the greater trochanter, and femoral head-neck junction were distinct and reliable osseous landmarks. The anteroinferior tip of the vastus tubercle was 17.1 mm (95% CI: 14.5, 19.8 mm) anteroinferior to the center of the gluteus medius lateral insertional footprint and was 22.9 mm (95% CI: 20.1, 25.7 mm) inferolateral to the center of the gluteus minimus insertional footprint. The insertions of the piriformis, conjoint tendon of the hip (superior gemellus, obturator internus, and inferior gemellus), and obturator externus were identified relative to the superomedial border of the greater trochanter. The relationship of the aforementioned footprints were 49% (95% CI: 43%, 54%), 42% (95% CI: 33%, 50%), and 64% (95% CI: 59%, 69%) from the anterior (0%) to posterior (100%) margins of the superomedial border of the greater trochanter, respectively. The hip joint capsule attached distally on the proximal femur 18.2 mm (95% CI: 14.2, 22.2 mm) from the head-neck junction medially on average. Conclusion: The vastus tubercle, superomedial border of the greater trochanter, and the femoral head-neck junction were reliable osseous landmarks for the identification of the tendinous and hip capsular insertions on the proximal femur. Knowledge of the

  7. Reconstruction of a bony bankart lesion: best fit based on radius of curvature. (United States)

    Dehaan, Alexander; Munch, Jacqueline; Durkan, Michael; Yoo, Jung; Crawford, Dennis


    The inferior coracoid process has traditionally been considered to be the gold standard for glenoid augmentation after anteroinferior bone loss. Other autograft sites, and more recently, osteochondral allograft sites, have been described as potential donor sources. Potential autograft and osteochondral allograft sites were compared to identify the graft source that would provide the best fit for glenoid augmentation. Controlled laboratory study. Mose circles, a geometric tool found on a standard goniometer, were used to make radius of curvature measurements of 10 anatomic locations in 17 cadaveric specimens. The bony surface of the glenoid, measured from superior to inferior (G-SI) and from anterior to posterior (G-AP), was used as the standard for comparison. Autograft sites were the inferior coracoid, lateral coracoid, and inner table of the iliac crest. Potential osteochondral allograft sites were the radial head, scaphoid fossa of the distal radius (S-DR), lunate fossa of the distal radius (L-DR), medial tibial plateau, and lateral distal tibia. An acceptable match for autograft sites was based on a paired analysis and defined as a radius of curvature within 5 mm of the G-SI or the G-AP of the same cadaveric specimen. Allograft sites were evaluated using an unpaired analysis in which an ideal fit was defined as a radius of curvature of 25 to 30 mm, based on the interquartile range of the G-SI and G-AP. The median (interquartile range) radii of curvature for the G-SI and G-AP were 30 mm (range, 25-30 mm) and 25 mm (range, 25-25 mm), respectively. The inferior coracoid was within 5 mm of the G-SI 59% of the time and the G-AP 94% of the time; no measurements from the lateral coracoid or iliac crest were within the range of the glenoid radius of curvature. Analysis of the allograft sites demonstrated an acceptable fit for 94% of the distal tibia, 68% of the medial tibial plateau, 12% of the S-DR, and 0% of the L-DR and the radial head specimens. An autograft of the

  8. Proportional evaluation of anterior cruciate ligament footprint size and knee bony morphology. (United States)

    Iriuchishima, Takanori; Ryu, Keinosuke; Aizawa, Shin; Fu, Freddie H


    The purpose of this study was to reveal the correlation in size between the native anterior cruciate ligament (ACL) footprint and the femoral intercondylar notch and the tibia plateau, and to calculate the proportion in size between the ACL footprint and knee bony morphology. Twenty-six non-paired human cadaver knees were used. All soft tissues around the knee were resected except the ACL. The ACL was cut in the middle, and the femoral bone was cut at the most proximal point of the femoral notch. The ACL was carefully dissected, and the periphery of the ACL insertion site was outlined on both the femoral and tibial sides. An accurate lateral view of the femoral condyle and an axial view of the tibial plateau were photographed with a digital camera, and the images were downloaded to a personal computer. The size of the femoral and tibial ACL footprints and the area of the lateral wall of the intercondylar notch and the tibia plateau were measured with Image J software (National Institution of Health). The sizes of the native femoral and tibial ACL footprints were 69.8 ± 25 and 133.8 ± 31.3 mm(2), respectively. The areas of the lateral wall of the intercondylar notch and the tibia plateau were 390.5 ± 70.5 and 2,281.7 ± 377.3 mm(2), respectively. The femoral ACL footprint area and the area of the lateral wall of the femoral intercondylar notch (Pearson's correlation coefficient = 0.603, p = 0.001), and the tibial ACL footprint area and the area of the tibia plateau (Pearson's correlation coefficient = 0.452, p = 0.02) both showed significant correlation. The femoral ACL footprint was 17.8 ± 4.9 %, the size of the lateral wall of the femoral intercondylar notch, and the tibial ACL footprint was 5.9 ± 1.3 %, the size of the tibia plateau. For clinical relevance, the femoral ACL footprint is approximately 18 %, the size of the intercondylar notch, and the tibial ACL footprint is approximately 6 %, the size of the tibia plateau. It might be possible to predict the

  9. Permian-Triassic Osteichthyes (bony fishes): diversity dynamics and body size evolution. (United States)

    Romano, Carlo; Koot, Martha B; Kogan, Ilja; Brayard, Arnaud; Minikh, Alla V; Brinkmann, Winand; Bucher, Hugo; Kriwet, Jürgen


    The Permian and Triassic were key time intervals in the history of life on Earth. Both periods are marked by a series of biotic crises including the most catastrophic of such events, the end-Permian mass extinction, which eventually led to a major turnover from typical Palaeozoic faunas and floras to those that are emblematic for the Mesozoic and Cenozoic. Here we review patterns in Permian-Triassic bony fishes, a group whose evolutionary dynamics are understudied. Based on data from primary literature, we analyse changes in their taxonomic diversity and body size (as a proxy for trophic position) and explore their response to Permian-Triassic events. Diversity and body size are investigated separately for different groups of Osteichthyes (Dipnoi, Actinistia, 'Palaeopterygii', 'Subholostei', Holostei, Teleosteomorpha), within the marine and freshwater realms and on a global scale (total diversity) as well as across palaeolatitudinal belts. Diversity is also measured for different palaeogeographical provinces. Our results suggest a general trend from low osteichthyan diversity in the Permian to higher levels in the Triassic. Diversity dynamics in the Permian are marked by a decline in freshwater taxa during the Cisuralian. An extinction event during the end-Guadalupian crisis is not evident from our data, but 'palaeopterygians' experienced a significant body size increase across the Guadalupian-Lopingian boundary and these fishes upheld their position as large, top predators from the Late Permian to the Late Triassic. Elevated turnover rates are documented at the Permian-Triassic boundary, and two distinct diversification events are noted in the wake of this biotic crisis, a first one during the Early Triassic (dipnoans, actinistians, 'palaeopterygians', 'subholosteans') and a second one during the Middle Triassic ('subholosteans', neopterygians). The origination of new, small taxa predominantly among these groups during the Middle Triassic event caused a

  10. Applications of Shape Memory Alloys for Neurology and Neuromuscular Rehabilitation

    Directory of Open Access Journals (Sweden)

    Simone Pittaccio


    Full Text Available Shape memory alloys (SMAs are a very promising class of metallic materials that display interesting nonlinear properties, such as pseudoelasticity (PE, shape memory effect (SME and damping capacity, due to high mechanical hysteresis and internal friction. Our group has applied SMA in the field of neuromuscular rehabilitation, designing some new devices based on the mentioned SMA properties: in particular, a new type of orthosis for spastic limb repositioning, which allows residual voluntary movement of the impaired limb and has no predetermined final target position, but follows and supports muscular elongation in a dynamic and compliant way. Considering patients in the sub-acute phase after a neurological lesion, and possibly bedridden, the paper presents a mobiliser for the ankle joint, which is designed exploiting the SME to provide passive exercise to the paretic lower limb. Two different SMA-based applications in the field of neuroscience are then presented, a guide and a limb mobiliser specially designed to be compatible with diagnostic instrumentations that impose rigid constraints in terms of electromagnetic compatibility and noise distortion. Finally, the paper discusses possible uses of these materials in the treatment of movement disorders, such as dystonia or hyperkinesia, where their dynamic characteristics can be advantageous.

  11. Threatened masculinity and muscularity: an experimental examination of multiple aspects of muscularity in men. (United States)

    Hunt, Christopher John; Gonsalkorale, Karen; Murray, Stuart B


    Two studies examined the threatened masculinity theory of male body dissatisfaction, which posits that threats to masculinity result in increased muscle dissatisfaction. In Study 1, a masculinity threat was followed by tasks examining confidence in physical ability and perceptions of current and ideal body shapes. Results showed that men who experienced a masculinity threat reported lower confidence in their physical ability and perceived themselves as less muscular than men who experienced an affirmation of their masculinity. In Study 2, men were asked to report their intention to increase muscularity and their appearance anxiety following a threat to masculinity. Results showed that men reported lower appearance anxiety and drive for muscularity when their masculinity was threatened than when their masculinity was affirmed. This apparent contradiction can be explained by noting that men may be motivated to deny appearance concerns following a threat to masculinity, as such concerns are equated with femininity. Copyright © 2013. Published by Elsevier Ltd.

  12. Surgery for scoliosis in Duchenne muscular dystrophy. (United States)

    Cheuk, Daniel K L; Wong, Virginia; Wraige, Elizabeth; Baxter, Peter; Cole, Ashley


    Scoliosis in people with Duchenne muscular dystrophy is usually progressive and treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most people with Duchenne muscular dystrophy and scoliosis. This is an updated review and an updated search was undertaken in which no new studies were found. To determine the effectiveness and safety of spinal surgery in people with Duchenne muscular dystrophy with scoliosis. We intended to test whether spinal surgery is effective in increasing survival, improving respiratory function, improving quality of life and overall functioning; and whether spinal surgery is associated with severe adverse effects. We searched the specialized registers of the Cochrane Neuromuscular Disease Group (31 July 2012), MEDLINE (January 1966 to July 2012), EMBASE (January 1947 to July 2012), CENTRAL (2012, Issue 7 in the Cochrane Library), CINAHL Plus(January 1937 to July 2012), Proquest Dissertation and Thesis Database (January 1980 to July 2012), and the National Institute of Health Clinical Trials Database (July 2012). No language restrictions were imposed. We planned to include controlled clinical trials using random or quasi-random allocation of treatment evaluating all forms of spinal surgery for scoliosis in people with Duchenne muscular dystrophy in the review. The control interventions would have been no treatment, non-operative treatment, or a different form of spinal surgery. Two authors independently examined the search results and evaluated the study characteristics against inclusion criteria to decide which ones would be included in the review. On searching, 47 studies were relevant but none met the inclusion criteria for the review, because they were not clinical trials but prospective or retrospective reviews of case series. Since there were no randomized controlled clinical trials available to evaluate the effectiveness of

  13. Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network. (United States)

    Shimizu, Reiko; Ogata, Katsuhisa; Tamaura, Akemi; Kimura, En; Ohata, Maki; Takeshita, Eri; Nakamura, Harumasa; Takeda, Shin'ichi; Komaki, Hirofumi


    Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with rare diseases, an appropriate infrastructure is needed. One of the effective solutions for the lack of infrastructure is to establish a network of rare diseases. To accomplish the conduction of clinical trials in Japan, the Muscular dystrophy clinical trial network (MDCTN) was established by the clinical research group for muscular dystrophy, including the National Center of Neurology and Psychiatry, as well as national and university hospitals, all which have a long-standing history of research cooperation. Thirty-one medical institutions (17 national hospital organizations, 10 university hospitals, 1 national center, 2 public hospitals, and 1 private hospital) belong to this network and collaborate to facilitate clinical trials. The Care and Treatment Site Registry (CTSR) calculates and reports the proportion of patients with neuromuscular diseases in the cooperating sites. In total, there are 5,589 patients with neuromuscular diseases in Japan and the proportion of patients with each disease is as follows: DMD, 29 %; myotonic dystrophy type 1, 23 %; limb girdle muscular dystrophy, 11 %; Becker muscular dystrophy, 10 %. We work jointly to share updated health care information and standardized evaluations of clinical outcomes as well. The collaboration with the patient registry (CTSR), allows the MDCTN to recruit DMD participants with specific mutations and conditions, in a remarkably short period of time. Counting with a network that operates at a national level is important to address the corresponding national issues. Thus, our network will be able to contribute with international research activity, which can lead to


    Directory of Open Access Journals (Sweden)

    N. N. Zavadenko


    Full Text Available Treatment of developmental disorders, correction of learning disabilities and behavioral problems in children should be prompt, complex and include pharmacotherapy with nootropic agents. The results of recent studies shown in this review proved effectiveness of pharmacotherapy with pyritinol in children with perinatal injury of central nervous system and its consequences, psychomotor and speech development delay, dyslexia, attention deficit/hyperactivity disorder, cognitive disorders and learning disabilities (including manifestations of epilepsy, chronic tic disorders and Tourette syndrome. Due to its ability to optimize metabolic processes in central nervous system, pyritinol is used in treatment of vegetative dysfunction in children and adolescents, especially associated with asthenical manifestations, as well as in complex therapy of exertion headache and migraine. The drug is effective in treatment of cognitive disorders in children and adolescents with epilepsy, pyritinol was administered without changing of the basic anticonvulsive therapy and no deterioration (increase of severity of seizures or intensity of epileptiform activity on electroencephalogramms was observed. Significant nootropic effect of pyritinol, including neurometabolic, neuroprotective, neurodynamic and other mechanisms, in association with safety and rare side effects of this drug determines its wide usage in pediatric neurology.

  15. Toward a Neurology of Loneliness (United States)

    Cacioppo, Stephanie; Capitanio, John P.; Cacioppo, John T.


    Social isolation has been recognized as a major risk factor for morbidity and mortality in humans for more than a quarter century. The brain is the key organ of social connections and processes, however, and the same objective social relationship can be experienced as caring and protective or as exploitive and isolating. We review evidence that the perception of social isolation (i.e., loneliness) impacts brain and behavior and is a risk factor for broad-based morbidity and mortality. However, the causal role of loneliness on neural mechanisms and mortality is difficult to test conclusively in humans. Mechanistic animal studies provide a lens through which to evaluate the neurological effects of a member of a social species living chronically on the social perimeter. Experimental studies show that social isolation produces significant changes in brain structures and processes in adult social animals. These effects are not uniform across the brain or across species but instead are most evident in brain regions that reflect differences in the functional demands of solitary versus social living for a particular species. The human and animal literatures have developed independently, however, and significant gaps also exist. The current review underscores the importance of integrating human and animal research to delineate the mechanisms through which social relationships impact the brain, health, and well-being. PMID:25222636

  16. Gluten sensitivity and neurological manifestations

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    Agostino Berio


    Full Text Available The authors report on six cases of gluten-sensitivity, also defined non-celiac gluten sensitivity, characterized by abdominal features (diarrhea, bloating, pain, genetic positivity for predisposition to celiac disease (DQB1* 02 in all cases; DQA1*05 in three; DQA1*02 in two, DQB1*03 in two, negative anti-t-Transglutaminase antibodies, normal mucosa on biopsy in four cases, type 1 of Marsh in one case. The subjects presented frequent central nervous system (CNS symptoms: headache in three patients, somnolence in one, electroencephalogram aspecific alterations in three (in two of them with previous seizures, leptomeningeal cyst in one, intracranial calcification in one, cerebral gliosis in two. After a gluten-free diet, all intestinal and clinical CNS features remitted, but re-appeared after gluten reintroduction. On the basis of the neurological signs, the authors stress the relevance of immune innate system in the pathogenesis of these cases with possible subsequent evolution on immune adaptive system involvement.

  17. Endocannabinoid System in Neurological Disorders. (United States)

    Ranieri, Roberta; Laezza, Chiara; Bifulco, Maurizio; Marasco, Daniela; Malfitano, Anna M


    Several studies support the evidence that the endocannabinoid system and cannabimimetic drugs might have therapeutic potential in numerous pathologies. These pathologies range from neurological disorders, atherosclerosis, stroke, cancer to obesity/metabolic syndrome and others. In this paper we review the endocannabinoid system signaling and its alteration in neurodegenerative disorders like multiple sclerosis, Alzheimer's disease, Parkinson's disease and Huntington's disease and discuss the main findings about the use of cannabinoids in the therapy of these pathologies. Despite different etiologies, neurodegenerative disorders exhibit similar mechanisms like neuro-inflammation, excitotoxicity, deregulation of intercellular communication, mitochondrial dysfunction and disruption of brain tissue homeostasis. Current treatments ameliorate the symptoms but are not curative. Interfering with the endocannabinoid signaling might be a valid therapeutic option in neuro-degeneration. To this aim, pharmacological intervention to modulate the endocannabinoid system and the use of natural and synthetic cannabimimetic drugs have been assessed. CB1 and CB2 receptor signaling contributes to the control of Ca2+ homeostasis, trophic support, mitochondrial activity, and inflammatory conditions. Several studies and patents suggest that the endocannabinoid system has neuro-protective properties and might be a target in neurodegenerative diseases.

  18. Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy (United States)

    Liew, Wendy K. M.


    Pediatric neuromuscular disorders comprise a large variety of disorders that can be classified based on their neuroanatomical localization, patterns of weakness, and laboratory test results. Over the last decade, the field of translational research has been active with many ongoing clinical trials. This is particularly so in two common pediatric neuromuscular disorders: Duchenne muscular dystrophy and spinal muscular atrophy. Although no definitive therapy has yet been found, numerous active areas of research raise the potential for novel therapies in these two disorders, offering hope for improved quality of life and life expectancy for affected individuals. PMID:23634188

  19. Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: A literature review. (United States)

    Garg, Sumeet


    Scoliosis occurs in nearly all non-ambulatory children with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Non-operative treatments have not been shown to be effective at preventing progression of scoliosis. Progressive scoliosis can impact the ability of patients to sit comfortably, be cosmetically unappealing, and in severe cases exacerbate pulmonary disease. The main goal of operative treatment is to improve sitting balance and prevent progression of scoliosis. Complication rates are high and there is little data on effect of operative treatment on quality of life in children with SMA and DMD. Comprehensive multi-disciplinary pre-operative evaluations are vital to reduce the risks of operative treatment.

  20. An Unusual Mechanism of Closure of Muscular Ventricular Septal Defects

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    Soham Dasgupta


    Full Text Available Ventricular septal defects (VSDs are the most common congenital heart defects. Most of the small or moderate size (<6 mm muscular VSDs close spontaneously within the first two years of life. The usual mechanism of spontaneous closure involves muscular tissue encroachment with superimposed fibrosis or primary fibrous tissue formation around the margins of the defect. We describe an unusual mechanism of spontaneous closure of a muscular VSD.

  1. Identification of three distinguishable phenotypes in golden retriever muscular dystrophy




    Duchenne muscular dystrophy (DMD) is a human disease characterized by progressive and irreversible skeletal muscle degeneration caused by mutations in genes coding for important muscle proteins. Unfortunately, there is no efficient treatment for this disease; it causes progressive loss of motor and muscular ability until death. The canine model (golden retriever muscular dystrophy) is similar to DMD, showing similar clinical signs. Fifteen dogs were followed from birth and closely observed fo...

  2. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. (United States)

    Banihani, Rudaina; Smile, Sharon; Yoon, Grace; Dupuis, Annie; Mosleh, Maureen; Snider, Andrea; McAdam, Laura


    Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of Duchenne muscular dystrophy. © The Author(s) 2015.


    Directory of Open Access Journals (Sweden)

    Sedat IŞIKAY


    Full Text Available BackgroundSeveral neurological disorders have also been widely described in celiac disease patients.ObjectiveThe aim of this study was to determine the incidence of accompanying different neurologic manifestations in children with celiac disease at the time of diagnosis and to discuss these manifestations in the light of the recent literature.MethodsThis prospective cross sectional study included 297 children diagnosed with celiac disease. The medical records of all patients were reviewed.ResultsIn neurological evaluation, totally 40 (13. 5% of the 297 celiac patients had a neurological finding including headache, epilepsy, migraine, mental retardation, breath holding spells, ataxia, cerebral palsy, attention deficit hyperactivity disorder, Down syndrome and Turner syndrome in order of frequency. There was not any significant difference between the laboratory data of the patients with and without neurological manifestations. However; type 3a biopsy was statistically significantly more common among patients without neurological manifestations, while type 3b biopsy was statistically significantly more common among patients with neurological manifestations.ConclusionIt is important to keep in mind that in clinical course of celiac disease different neurological manifestations may be reported.

  4. Task analysis in neurosciences programme design - neurological ...

    African Journals Online (AJOL)

    Defining educational objectives is the key to achieving the goal of professional competence in students. The technique of task analysis was selected to determine components of competence in clinical neurology appropriate to the needs of primary care. A survey of neurological problems in general practice revealed that ...

  5. Archives: African Journal of Neurological Sciences

    African Journals Online (AJOL)

    Items 1 - 28 of 28 ... Archives: African Journal of Neurological Sciences. Journal Home > Archives: African Journal of Neurological Sciences. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue ...

  6. Suspecting Neurological Dysfunction From E Mail Messages ...

    African Journals Online (AJOL)

    A non medical person suspected and confirmed neurological dysfunction in an individual, based only on e mail messages sent by the individual. With email communication becoming rampant “peculiar” email messages may raise the suspicion of neurological dysfunction. Organic pathology explaining the abnormal email ...

  7. Neurological and neurosurgical manifestations of human ...

    African Journals Online (AJOL)

    adults in Abidjan, Cote d'Ivoire and in Kinshasa and among inpatients in Ugandan hospitals. Ninety per cent of deaths ... various parts of the continent. Neurological manifestations. The spectrum of neurological diseases reported in ... Primary effects of HIV. HEADACHE. Case report. A Malawian 46-year-old male senior ...

  8. Posterior atlantoaxial dislocation without fracture and neurologic deficit: a case report and the review of literature. (United States)

    Jiang, Lei-Sheng; Shen, Lei; Wang, Wei; Wu, Hao; Dai, Li-Yang


    Traumatic posterior atlantoaxial dislocation without related fracture of the odontoid process is very rare, and only ten cases have been previously reported. The objective of this paper was to describe a case of traumatic posterior atlantoaxial dislocation without related fracture of the odontoid process, and its management with atlantoaxial transarticular screw fixation and bony fusion through an anterior retropharyngeal approach, and to review the relevant literature. The patient's medical and radiographic history is reviewed as well as the relevant medical literature. Posterior atlantoaxial dislocation was confirmed in a 48-year-old male struck by an automobile through conventional radiography, computed tomography and magnetic resonance imaging. No related fracture of the odontoid process or neurological deficit was found in this patient. Transarticular screw fixation of the atlantoaxial articulation through anterior retropharyngeal approach was performed after several unsuccessful attempts of closed reduction. At the latest follow-up, the lateral cervical spine radiography in flexion and extension demonstrated no instability of the atlantoaxial complex 21 months after the operation. In conclusion, patients with posterior atlantoaxial dislocation without fracture may survive with few or no-long term neurological deficit. Routine CT and MRI of the cervical spine should be carried out in patients with head or neck trauma to prevent missing of this rare clinical entity. Transarticular screw fixation of the atlantoaxial articulation through anterior retropharyngeal approach is safe and useful in case the management of dislocation is unsuccessful under closed reduction.

  9. Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management. (United States)

    Toussaint, Michel; Davidson, Zoe; Bouvoie, Veronique; Evenepoel, Nathalie; Haan, Jurn; Soudon, Philippe


    Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia). Recent studies on dysphagia in DMD clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little guidance is available for its management. This paper aims to provide a step-by-step algorithm to facilitate clinical decisions regarding dysphagia management in this patient population. This algorithm is based on 30 years of clinical experience with DMD in a specialised Centre for Neuromuscular Disorders (Inkendaal Rehabilitation Hospital, Belgium) and is supported by literature where available. Dysphagia can worsen the condition of ageing patients with DMD. Apart from the difficulties of chewing and oral fragmentation of the food bolus, dysphagia is rather a consequence of an impairment in the pharyngeal phase of swallowing. By contrast with central neurologic disorders, dysphagia in DMD accompanies solid rather than liquid intake. Symptoms of dysphagia may not be clinically evident; however laryngeal food penetration, accumulation of food residue in the pharynx and/or true laryngeal food aspiration may occur. The prevalence of these issues in DMD is likely underestimated. There is little guidance available for clinicians to manage dysphagia and improve feeding for young men with DMD. This report aims to provide a clinical algorithm to facilitate the diagnosis of dysphagia, to identify the symptoms and to propose practical recommendations to treat dysphagia in the adult DMD population. Implications for Rehabilitation Little guidance is available for the management of dysphagia in Duchenne dystrophy. Food can penetrate the vestibule, accumulate as residue or cause aspiration. We propose recommendations and an algorithm to guide management of dysphagia. Penetration/residue accumulation

  10. Natural History of Infantile-Onset Spinal Muscular Atrophy. (United States)

    Kolb, Stephen J; Coffey, Christopher S; Yankey, Jon W; Krosschell, Kristin; Arnold, W David; Rutkove, Seward B; Swoboda, Kathryn J; Reyna, Sandra P; Sakonju, Ai; Darras, Basil T; Shell, Richard; Kuntz, Nancy; Castro, Diana; Parsons, Julie; Connolly, Anne M; Chiriboga, Claudia A; McDonald, Craig; Burnette, W Bryan; Werner, Klaus; Thangarajh, Mathula; Shieh, Perry B; Finanger, Erika; Cudkowicz, Merit E; McGovern, Michelle M; McNeil, D Elizabeth; Finkel, Richard; Iannaccone, Susan T; Kaye, Edward; Kingsley, Allison; Renusch, Samantha R; McGovern, Vicki L; Wang, Xueqian; Zaworski, Phillip G; Prior, Thomas W; Burghes, Arthur H M; Bartlett, Amy; Kissel, John T


    Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age. Recruitment occurred at 14 centers over 21 months within the NINDS-sponsored NeuroNEXT Network. Infant motor function scales (TIMPSI, CHOP-INTEND and AIMS) and putative physiologic and molecular biomarkers were assessed prior to 6 months of age and at 6, 9, 12, 18 and 24-months with progression, correlations between motor function and biomarkers and hazard ratios were analyzed. Motor function scores (MFS) and CMAP decreased rapidly in SMA infants, whereas MFS in all healthy infants rapidly increased. Correlations were identified between TIMPSI and CMAP in SMA infants. TIMPSI at first study visit was associated with risk of combined endpoint of death or permanent invasive ventilation in SMA infants. Post hoc analysis of survival to combined endpoint in SMA infants with 2 copies of SMN2 indicated a median age of 8 months at death (95%CI: 6,17). These data of SMA and control outcome measures delineates meaningful change in clinical trials in infantile-onset SMA. The power and utility of NeuroNEXT to provide "real world", prospective natural history data sets to accelerate public and private drug development programs for rare disease is demonstrated. This article is protected by copyright. All rights reserved. © 2017 American Neurological Association.

  11. Child Neurology Education for Pediatric Residents. (United States)

    Albert, Dara V F; Patel, Anup D; Behnam-Terneus, Maria; Sautu, Beatriz Cunill-De; Verbeck, Nicole; McQueen, Alisa; Fromme, H Barrett; Mahan, John D


    The aim of this study was to evaluate whether the current state of child neurology education during pediatric residency provides adequate preparation for pediatric practice. A survey was sent to recent graduates from 3 pediatric residency programs to assess graduate experience, perceived level of competence, and desire for further education in child neurology. Responses from generalists versus subspecialists were compared. The response rate was 32%, half in general pediatric practice. Only 22% feel very confident in approaching patients with neurologic problems. This may represent the best-case scenario as graduates from these programs had required neurology experiences, whereas review of Accreditation Council of Graduate Medical Education-accredited residency curricula revealed that the majority of residencies do not. Pediatric neurologic problems are common, and pediatric residency graduates do encounter such problems in practice. The majority of pediatricians report some degree of confidence; however, some clear areas for improvement are apparent.

  12. The bony horncore of the common eland (Taurotragus oryx): composition and mechanical properties of a spiral fighting structure. (United States)

    Cappelli, Jamil; García, Andrés J; Kotrba, Radim; Gambín Pozo, Pablo; Landete-Castillejos, Tomas; Gallego, Laureano; Ceacero, Francisco


    Horns are permanent structures projecting from the head of bovids, consisting of a bony horncore covered with a layer of skin and then a sheath of keratinous material showing variability of growth intensity based on nutrition. From the point of view of the horn's mechanical properties, the keratin sheath has been widely studied, but only a few studies have considered the complete structure of the horn and fewer studies have focused on the bony horncore and its characteristics. The latter showed the important role of the bony core, when cranial appendages are subject to mechanical stress (as happens during fighting). The mechanical properties of bone material, along with its mineral profile, are also important, because they can show effects of different factors, such as nutrition and mineral deficiencies in diet. For this reason, eight horncores of captive common eland male were sampled at four positions along the vertical axis of the horn. The main aim was to study variation in mechanical properties and the mineral content along the vertical axis of the horncores. We further analysed whether the spiral bony ridge present on eland horncores differs in any of the studied properties from adjacent parts of the horncore. In other antelopes, spiral ridges on the horns have been proposed to increase grip during wrestling between males. Cross-sections of the horncores were performed at four positions along the longitudinal axis and, for each position, two bone bars were extracted to be tested in impact and bending. Moreover, in the first sampling position (the closest position to the base) two bars were extracted from the spiralled bony area. The resulting fragments were used to measure ash content, bone density and mineral content. Results showed that horn bone decreased along the vertical axis, in ash (-36%), density (-32%), and in impact work 'U' (marginally significant but large effect: -48%). The concentration of several minerals decreased significantly (Mg, Cr, Mn

  13. PABPN1 gene therapy for oculopharyngeal muscular dystrophy

    National Research Council Canada - National Science Library

    A Malerba; P Klein; H Bachtarzi; S A Jarmin; G Cordova; A Ferry; V Strings; M Polay Espinoza; K Mamchaoui; S C Blumen; J Lacau St Guily; V Mouly; M Graham; G Butler-browne; D A Suhy; C Trollet; G Dickson


      Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles...

  14. [Bony pathologies of the metacarpophalangeal joints in early rheumatoid arthritis: comparison of MRI and high-resolution SPECT]. (United States)

    Scherer, A; Wirrwar, A; Mattes-György, K; Blondin, D; Reichelt, D; Müller, H-W; Schneider, M; Mödder, U; Ostendorf, B


    Comparison of MRI with a newly developed high-resolution multi-pinhole single photon emission computed tomography (MPH-SPECT) regarding the detection of bony pathologies of the metacarpophalangeal (MCP) joints in patients with early rheumatoid arthritis (ERA). The clinically dominant hand of 15 patients with ERA (disease duration 6 months) was examined using MRI and MPH-SPECT. The evaluation of MRI was achieved according to RAMRIS criteria and for the MPH SPECT regarding pathological tracer uptake and distribution. Image fusions of MRI and MPH-SPECT were provided and the two methods were compared. In MRI 12 of 15 patients showed arthritic joint pathologies, while 8 patients exhibited soft tissue and bony changes. 4 patients had only soft tissue inflammation (synovitis) with a normal bone signal. In MPH-SPECT 10 of 15 patients showed pathologically increased bone metabolism. The fusion images presented a high agreement of the pathological changes in both methods, while areas with increased bone metabolism were not only present in the case of erosions, but also in the case of bone edema. In 2 patients increased bone metabolism was detectable in areas of MR tomographic normal bone, while a clear surrounding synovitis was present in each case here. The comparison of MPH-SPECT with MRI proves that the latter is a sensitive procedure for the detection of bony pathologies of MCP joints in ERA. A normal bone signal in MRI does not exclude early changes in bone metabolism in cases of severe synovialitis. Georg Thieme Verlag KG Stuttgart, New York.

  15. Sub-crestal positioning of implants results in higher bony crest resorption: an experimental study in dogs. (United States)

    Cesaretti, Gianfranco; Lang, Niklaus P; Salata, Luiz A; Schweikert, Michael T; Gutierrez Hernandez, Maria Elena; Botticelli, Daniele


    To compare peri-implant soft- and hard-tissue integration at implants installed juxta- or sub-crestally. Furthermore, differences in the hard and soft peri-implant tissue dimensions at sites prepared with drills or sonic instruments were to be evaluated. Three months after tooth extraction in six dogs, recipient sites were prepared in both sides of the mandible using conventional drills or a sonic device (Sonosurgery(®)). Two implants with a 1.7-mm high-polished neck were installed, one with the rough/smooth surface interface placed at the level of the buccal bony crest (control) and the second placed 1.3 mm deeper (test). After 8 weeks of non-submerged healing, biopsies were harvested and ground sections prepared for histological evaluation. The buccal distances between the abutment/fixture junction (AF) and the most coronal level of osseointegration (B) were 1.6 ± 0.6 and 2.4 ± 0.4 mm; between AF and the top of the bony crest (C), they were 1.4 ± 0.4 and 2.2 ± 0.2 mm at the test and control sites, respectively. The top of the peri-implant mucosa (PM) was located more coronally at the test (1.2 ± 0.6 mm) compared to the control sites (0.6 ± 0.5 mm). However, when the original position of the bony crest was taken into account, a higher bone loss and a more apical position of the peri-implant mucosa resulted at the test sites. The placement of implants into a sub-crestal location resulted in a higher vertical buccal bone resorption and a more apical position of the peri-implant mucosa in relation to the level of the bony crest at implant installation. Moreover, peri-implant hard-tissue dimensions were similar at sites prepared with either drills or Sonosurgery(®). © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Distance-to-agreement investigation of Tomotherapy's bony anatomy-based autoregistration and planning target volume contour-based optimization. (United States)

    Suh, Steve; Schultheiss, Timothy E


    To compare Tomotherapy's megavoltage computed tomography bony anatomy autoregistration with the best achievable registration, assuming no deformation and perfect knowledge of planning target volume (PTV) location. Distance-to-agreement (DTA) of the PTV was determined by applying a rigid-body shift to the PTV region of interest of the prostate from its reference position, assuming no deformations. Planning target volume region of interest of the prostate was extracted from the patient archives. The reference position was set by the 6 degrees of freedom (dof)-x, y, z, roll, pitch, and yaw-optimization results from the previous study at this institution. The DTA and the compensating parameters were calculated by the shift of the PTV from the reference 6-dof to the 4-dof-x, y, z, and roll-optimization. In this study, the effectiveness of Tomotherapy's 4-dof bony anatomy-based autoregistration was compared with the idealized 4-dof PTV contour-based optimization. The maximum DTA (maxDTA) of the bony anatomy-based autoregistration was 3.2 ± 1.9 mm, with the maximum value of 8.0 mm. The maxDTA of the contour-based optimization was 1.8 ± 1.3 mm, with the maximum value of 5.7 mm. Comparison of Pearson correlation of the compensating parameters between the 2 4-dof optimization algorithms shows that there is a small but statistically significant correlation in y and z (0.236 and 0.300, respectively), whereas there is very weak correlation in x and roll (0.062 and 0.025, respectively). We find that there is an average improvement of approximately 1 mm in terms of maxDTA on the PTV going from 4-dof bony anatomy-based autoregistration to the 4-dof contour-based optimization. Pearson correlation analysis of the 2 4-dof optimizations suggests that uncertainties due to deformation and inadequate resolution account for much of the compensating parameters, but pitch variation also makes a statistically significant contribution. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. SU-E-J-33: Comparison Between Soft Tissue Alignment and Bony Alignment for Pancreatic Cancer Radiotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Suh, Y; Crane, C; Krishnan, S; Das, P; Koay, E; Beddar, S [UT MD Anderson Cancer Center, Houston, TX (United States)


    Purpose An IGRT modality for pancreatic cancer treatment with dose escalation at our institution is in-room daily CT imaging. The purpose of this study is to assess the difference between soft tissue alignment and bony alignment for pancreatic tumor localization. Methods Eighteen patients with pancreatic tumors who underwent IMRT treatment with an inspiration breath-hold technique between July 2012 and February 2015 are included in this study. Prior to each treatment, a CT scan was acquired. The CT image guidance started with auto-alignment to either the bony anatomy (vertebral bodies) or fiducials (for the six patients with the stent in/near the tumor) and then, when necessary, manual adjustments were made based on soft tissue alignment using clinical software (CT-Assisted Targeting system). The difference between soft tissue alignment and bony/fiducial alignment was evaluated. Results Of all 380 treatments, manual adjustment was made in 225 treatments, ranging from 11% (3 treatments out of 28) to 96% (27 treatments out of 28) per patient. The mean of the difference between soft tissue alignment and bony/fiducial alignment per patient ranged from −3.6 to 0.3 mm, −1.5 to 2.8 mm, and −3.3 to 3.4 mm in the AP, SI, and RL directions, respectively. The maximum difference over all treatments was −9.5, −14.6, and −14.6 mm in the AP, SI, and RL directions, respectively. Conclusion About 60% of the time, manual adjustment based on soft tissue alignment was required. The extent of manual adjustment was usually small but varied significantly from patient to patient. The ultimate goal of the IGRT modality using daily CT imaging is not to fully cover the target but to spare organs-at-risk as much as possible to avoid them moving into higher dose gradients than accepted in the treatment plan. To this end, manual adjustment based on soft tissue alignment is critically important.

  18. Neurology in the Vietnam War. (United States)

    Gunderson, Carl H; Daroff, Robert B


    Between December 1965 and December 1971, the United States maintained armed forces in Vietnam never less than 180,000 men and women in support of the war. At one time, this commitment exceeded half a million soldiers, sailors, and airmen from both the United States and its allies. Such forces required an extensive medical presence, including 19 neurologists. All but two of the neurologists had been drafted for a 2-year tour of duty after deferment for residency training. They were assigned to Vietnam for one of those 2 years in two Army Medical Units and one Air Force facility providing neurological care for American and allied forces, as well as many civilians. Their practice included exposure to unfamiliar disorders including cerebral malaria, Japanese B encephalitis, sleep deprivation seizures, and toxic encephalitis caused by injection or inhalation of C-4 explosive. They and neurologists at facilities in the United States published studies on all of these entities both during and after the war. These publications spawned the Defense and Veterans Head Injury Study, which was conceived during the Korean War and continues today as the Defense and Veterans Head Injury Center. It initially focused on post-traumatic epilepsy and later on all effects of brain injury. The Agent Orange controversy arose after the war; during the war, it was not perceived as a threat by medical personnel. Although soldiers in previous wars had developed serious psychological impairments, post-traumatic stress disorder was formally recognized in the servicemen returning from Vietnam. © 2016 S. Karger AG, Basel.

  19. [Neurological disease and facial recognition]. (United States)

    Kawamura, Mitsuru; Sugimoto, Azusa; Kobayakawa, Mutsutaka; Tsuruya, Natsuko


    To discuss the neurological basis of facial recognition, we present our case reports of impaired recognition and a review of previous literature. First, we present a case of infarction and discuss prosopagnosia, which has had a large impact on face recognition research. From a study of patient symptoms, we assume that prosopagnosia may be caused by unilateral right occipitotemporal lesion and right cerebral dominance of facial recognition. Further, circumscribed lesion and degenerative disease may also cause progressive prosopagnosia. Apperceptive prosopagnosia is observed in patients with posterior cortical atrophy (PCA), pathologically considered as Alzheimer's disease, and associative prosopagnosia in frontotemporal lobar degeneration (FTLD). Second, we discuss face recognition as part of communication. Patients with Parkinson disease show social cognitive impairments, such as difficulty in facial expression recognition and deficits in theory of mind as detected by the reading the mind in the eyes test. Pathological and functional imaging studies indicate that social cognitive impairment in Parkinson disease is possibly related to damages in the amygdalae and surrounding limbic system. The social cognitive deficits can be observed in the early stages of Parkinson disease, and even in the prodromal stage, for example, patients with rapid eye movement (REM) sleep behavior disorder (RBD) show impairment in facial expression recognition. Further, patients with myotonic dystrophy type 1 (DM 1), which is a multisystem disease that mainly affects the muscles, show social cognitive impairment similar to that of Parkinson disease. Our previous study showed that facial expression recognition impairment of DM 1 patients is associated with lesion in the amygdalae and insulae. Our study results indicate that behaviors and personality traits in DM 1 patients, which are revealed by social cognitive impairment, are attributable to dysfunction of the limbic system.

  20. Neurology advanced practice providers: A position paper of the American Academy of Neurology. (United States)

    Schwarz, Heidi B; Fritz, Joseph V; Govindarajan, Raghav; Penfold Murray, Rebecca; Boyle, Kathryn B; Getchius, Thomas S D; Freimer, Miriam


    There are many factors driving health care reform, including unsustainable costs, poor outcomes, an aging populace, and physician shortages. These issues are particularly relevant to neurology. New reimbursement models are based on value and facilitated by the use of multidisciplinary teams. Integration of advanced practice providers (APPs) into neurology practice offers many advantages with new models of care. Conversely, there are many and varied challenges financially and logistically with these practice models. The American Academy of Neurology has formed a Work Group to address the needs of both neurologists and neurologic APPs and monitor the effect of APPs on quality and cost of neurologic care.

  1. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Thune, Jens Jakob; Køber, Lars


    OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology ...... of dystrophic changes on muscle biopsy. CONCLUSIONS: This study demonstrates a high prevalence of cardiac involvement in patients with LGMD2I, LGMD2E, and BMD. Patients with LGMD2A, LGMD2D, and unclassified LGMD2 have a much lower and milder prevalence of cardiac involvement.......OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology......-I and in 14 of 30 patients (47%) with BMD. Only a few patients with LGMD2A and unclassified LGMD2 had mild cardiac involvement, whereas 29% and 67% of patients with LGMD2I and LGMD2E, respectively, had cardiac involvement. Cardiac involvement was not correlated with age, muscle strength, or the level...

  2. Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy

    DEFF Research Database (Denmark)

    Jensen, L; Petersson, S J; Illum, N O


    OBJECTIVE: Duchenne muscular dystrophy (DMD) patients are often treated with glucocorticoids; yet their precise molecular action remains unknown. METHODS: We investigated muscle biopsies from nine boys with DMD (aged: 7,6±2,8 yrs.) collected before and after three months of deflazacort treatment...

  3. Muscular anatomy of the Podocoryna carnea hydrorhiza.

    Directory of Open Access Journals (Sweden)

    Leo W Buss

    Full Text Available The muscular anatomy of the athecate hydroid Podocoryna carnea hydrorhiza is elucidated. The polyp-stolon junction is characterized by an opening, here called the chloe, in the otherwise continuous hydrorhizal perisarc. The chloe is elliptical when the polyp first arises, but takes on a more complex outline as multiple stolons anastomose to communicate with that polyp. Surrounding the polyp base are spots, here called anchors, which autofluoresce at the same wavelengths as perisarc and which, like perisarc, contain chitin as assessed by Calcofluor White, Congo Red and wheat germ agglutinin staining. Anchors remain after living tissues are digested using KOH. Collagen IV staining indicates that the mesoglea is pegged to the anchors and rhodamine phallodin staining detects cytoskeletal F-actin fibers of the basal epidermis surrounding the anchors. Longitudinal muscle fibers of the polyp broaden at the polyp base and are inserted into the mesoglea of the underlying stolon, but were neither observed to extend along the stolonal axis nor to attach to the anchors. Circular muscular fibers of the polyp extend into stolons as a dense collection of strands running along the proximal-distal axis of the stolon. These gastrodermal axial muscular fibers extend to the stolon tip. Epidermal cells at the stolon tip and the polyp bud display a regular apical latticework of F-actin staining. A similar meshwork of F-actin staining was found in the extreme basal epidermis of all stolons. Immunohistochemical staining for tubulin revealed nerves at stolon tips, but at no other hydrorhizal locations. These studies bear on the mechanisms by which the stolon tip and polyp bud pulsate, the manner in which the stolon lumen closes, and on the developmental origin of the basal epidermis of the hydrorhiza.

  4. Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations. (United States)

    Sejerson, Thomas; Bushby, Kate


    Care for patients with Duchenne muscular dystrophy (DMD) is poorly standardised. There are many interventions in different systems which are known to improve outcomes in DMD but these are not uniformly applied. This leads to inequality in access to treatment, as well as problems for planning controlled trials of future therapeutics. A worldwide effort is underway to generate care guidelines for DMD, which involves the Centre for Disease Control in the USA and the TREAT-NMD network of excellence for neuromuscular diseases in Europe. In advance of the full consensus document, TREAT-NMD has worked on the generation of brief standards of care for DMD, which are presented here and are available via the TREAT-NMD website ( Guidelines are presented for diagnostics, neurological follow up, gastrointestinal and nutritional issues, respiratory and cardiac care as well as orthopaedics, rehabilitation, psychosocial interventions and oral care.

  5. Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease

    Directory of Open Access Journals (Sweden)

    Francisco A. Dias


    Full Text Available OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in the androgen receptor gene. RESULTS: Mean patient age was 37.6 years and mean number of CAG repeats 47 (44-53. Tremor was present in 8 (80% patients and was predominantly postural hand tremor. Alcohol responsiveness was detected in 7 (88% patients with tremor, who all responded well to treatment with a β-blocker (propranolol. CONCLUSION: Tremor is a common feature in patients with Kennedy's disease and has characteristics similar to those of essential tremor.

  6. Muscular cysticercosis: Case report and imaging findings

    Directory of Open Access Journals (Sweden)

    Neide Regina Simões Olmo

    Full Text Available Summary Cysticercosis is a parasitic disease caused by a worm of the Cestoda class. The most prevalent form affects the nervous system. This case report is from a 78-year-old female patient evaluated at Clínica Mult Imagem, in the city of Santos, Brazil, who presented a form of the disease that differed from the classic neurocysticercosis, in this case muscular cysticercosis. This and other forms of manifestation justify further studies to ensure adequate recognition, diagnosis and treatment of this parasitic disease.

  7. Rehabilitation therapy of Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    ZHANG Cheng


    Full Text Available It is very important that the rehabilitation therapy of Duchenne muscular dystrophy (DMD can improve the quality of life and delay the disease progression. There are the guidelines for DMD rehabilitation therapy in some countries, but it is not emphasized by clinical doctors in our country. According to our experiences to DMD rehabilitation therapy, we reviewed the progress of DMD rehabilitation therapy. It includes the clinical stages and characteristics of DMD, the general principle and the common therapy methods of DMD rehabilitation. We hope this review may increase recognizing to DMD rehabilitation therapy for the clinical doctors and DMD family members.

  8. [Charles Miller Fisher: a giant of neurology]. (United States)

    Tapia, Jorge


    C. Miller Fisher MD, one of the great neurologists in the 20th century, died in April 2012. Born in Canada, he studied medicine at the University of Toronto. As a Canadian Navy medical doctor he participated in World War II and was a war prisoner from 1941 to 1944. He did a residency in neurology at the Montreal Neurological Institute between 1946 and 1948, and later on was a Fellow in Neurology and Neuropathology at the Boston City Hospital. In 1954 he entered the Massachusetts General Hospital as a neurologist and neuropathologist, where he remained until his retirement, in 2005. His academic career ended as Professor Emeritus at Harvard University. His area of special interest in neurology was cerebrovascular disease (CVD). In 1954 he created the first Vascular Neurology service in the world and trained many leading neurologists on this field. His scientific contributions are present in more than 250 publications, as journal articles and book chapters. Many of his articles, certainly not restricted to CVD, were seminal in neurology. Several concepts and terms that he coined are currently used in daily clinical practice. The chapters on CVD, in seven consecutive editions of Harrison's Internal Medicine textbook, are among his highlights. His death was deeply felt by the neurological community.

  9. Neurocritical care education during neurology residency (United States)

    Drogan, O.; Manno, E.; Geocadin, R.G.; Ziai, W.


    Objective: Limited information is available regarding the current state of neurocritical care education for neurology residents. The goal of our survey was to assess the need and current state of neurocritical care training for neurology residents. Methods: A survey instrument was developed and, with the support of the American Academy of Neurology, distributed to residency program directors of 132 accredited neurology programs in the United States in 2011. Results: A response rate of 74% (98 of 132) was achieved. A dedicated neuroscience intensive care unit (neuro-ICU) existed in 64%. Fifty-six percent of residency programs offer a dedicated rotation in the neuro-ICU, lasting 4 weeks on average. Where available, the neuro-ICU rotation was required in the vast majority (91%) of programs. Neurology residents' exposure to the fundamental principles of neurocritical care was obtained through a variety of mechanisms. Of program directors, 37% indicated that residents would be interested in performing away rotations in a neuro-ICU. From 2005 to 2010, the number of programs sending at least one resident into a neuro-ICU fellowship increased from 14% to 35%. Conclusions: Despite the expansion of neurocritical care, large proportions of US neurology residents have limited exposure to a neuro-ICU and neurointensivists. Formal training in the principles of neurocritical care may be highly variable. The results of this survey suggest a charge to address the variability of resident education and to develop standardized curricula in neurocritical care for neurology residents. PMID:22573636

  10. Correlation between neurological leg deficits and reaction time of upper limbs among low-back pain patients. (United States)

    Venna, S; Hurri, H; Alaranta, H


    The purpose of the study was to examine how neurological deficits of the leg, i.e. sensory deficit, deficient reflexes and muscular weakness, correlate with reaction times of upper limbs in a group with chronic low-back pain. Thirty-two patients were studied. Three sets of measurements of simple reaction time and choice reaction time of upper limbs were conducted at one-week intervals. Neurological deficits of the leg were recorded by a physician and the subjects answered a questionnaire about the severity of their low-back symptoms (Oswestry's index). We also defined a neurological index which reflected the total sum of the three types of leg deficits experienced by each of the subjects. Sensory deficit of the leg and the neurological index correlated strongly with slower reaction times of upper limbs, while the other two neurological deficits did not reach a level of significance. Sensory deficits of the leg seem to be an indicator of much greater motor disability than has been thought so far. The motor disability not only appears distally from the lumbar radicular damage caused for example by an intervertebral herniation, it also seems to relate to psychomotor reaction more generally, even on upper limbs.

  11. Standardized patient outcomes trial (SPOT in neurology

    Directory of Open Access Journals (Sweden)

    Joseph E. Safdieh


    Full Text Available Background: The neurologic examination is a challenging component of the physical examination for medical students. In response, primarily based on expert consensus, medical schools have supplemented their curricula with standardized patient (SP sessions that are focused on the neurologic examination. Hypothesis-driven quantitative data are needed to justify the further use of this resource-intensive educational modality, specifically regarding whether using SPs to teach the neurological examination effects a long-term benefit on the application of neurological examination skills. Methods: This study is a cross-sectional analysis of prospectively collected data from medical students at Weill Cornell Medical College. The control group (n=129 received the standard curriculum. The intervention group (n=58 received the standard curriculum and an additional SP session focused on the neurologic examination during the second year of medical school. Student performance on the neurologic examination was assessed in the control and intervention groups via an OSCE administered during the fourth year of medical school. A Neurologic Physical Exam (NPE score of 0.0 to 6.0 was calculated for each student based on a neurologic examination checklist completed by the SPs during the OSCE. Composite NPE scores in the control and intervention groups were compared with the unpaired t-test. Results: In the fourth year OSCE, composite NPE scores in the intervention group (3.5±1.1 were statistically significantly greater than those in the control group (2.2±1.1 (p<0.0001. Conclusions: SP sessions are an effective tool for teaching the neurologic examination. We determined that a single, structured SP session conducted as an adjunct to our traditional lectures and small groups is associated with a statistically significant improvement in student performance measured 2 years after the session.

  12. Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy (United States)

    Kang, Peter B.; Morrison, Leslie; Iannaccone, Susan T.; Graham, Robert J.; Bönnemann, Carsten G.; Rutkowski, Anne; Hornyak, Joseph; Wang, Ching H.; North, Kathryn; Oskoui, Maryam; Getchius, Thomas S.D.; Cox, Julie A.; Hagen, Erin E.; Gronseth, Gary; Griggs, Robert C.


    Objective: To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature. Methods: Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care. Results: The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications. Recommendations: Multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies. PMID:25825463

  13. Neurological examination: pioneering authors and their books

    Directory of Open Access Journals (Sweden)

    Péricles Maranhão-Filho


    Full Text Available The objective of this article is to highlight some of the most important pioneering books specifically focused on the neurological examination and their authors. During the XIX Century, Alexander Hammond, William Gowers and Charles Mills pioneered the neurological literature, followed in the XX Century by Aloysio de Castro, Monrad-Krohn, Derek Denny-Brown, Robert Wartenberg, Gordon Holmes, and Russel DeJong. With determination and a marked sense of observation and research, they competently developed and spread the technique and art of the neurological exam.

  14. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (United States)

    Barone, Rita; Aiello, Chiara; Race, Valérie; Morava, Eva; Foulquier, Francois; Riemersma, Moniek; Passarelli, Chiara; Concolino, Daniela; Carella, Massimo; Santorelli, Filippo; Vleugels, Wendy; Mercuri, Eugenio; Garozzo, Domenico; Sturiale, Luisa; Messina, Sonia; Jaeken, Jaak; Fiumara, Agata; Wevers, Ron A; Bertini, Enrico; Matthijs, Gert; Lefeber, Dirk J


    Congenital disorders of glycosylation (CDG) are a group of metabolic diseases due to defects in protein and lipid glycosylation. We searched for the primary defect in 3 children from 2 families with a severe neurological phenotype, including profound developmental delay, intractable epilepsy, progressive microcephaly, severe hypotonia with elevated blood creatine kinase levels, and early fatal outcome. There was clinical evidence of a muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry. Biochemical and molecular methods were combined to pinpoint the defect in the glycosylation pathway in the endoplasmic reticulum. Metabolic investigations revealed CDG-I, pointing to a defect in protein N-glycosylation in the endoplasmic reticulum. Analysis of lipid-linked oligosaccharides in fibroblasts showed accumulation of Dol-PP-GlcNAc(2) -Man(5) . DNA analysis revealed mutations in DPM2, 1 of the subunits of the dolichol-phosphate-mannose (DPM) synthase; the patient in the first family is compound heterozygous for 2 mutations (c.68A>G, predicting a missense mutation p.Y23C and c.4-1G>C, a splice mutation), whereas the patients in the second family are homozygous for the same missense mutation (c.68A>G, p.Y23C). We describe a new CDG, due to a deficiency of DPM2. Hence, mutations have now been described in the genes for the 3 subunits of DPM: DPM1, DPM2, and DPM3, whereby DPM2-CDG links the congenital disorders of glycosylation to the congenital muscular dystrophies. Copyright © 2012 American Neurological Association.

  15. Bony outgrowths on the jaws of an extinct sperm whale support macroraptorial feeding in several stem physeteroids (United States)

    Lambert, Olivier; Bianucci, Giovanni; Beatty, Brian L.


    Several extinct sperm whales (stem Physeteroidea) were recently proposed to differ markedly in their feeding ecology from the suction-feeding modern sperm whales Kogia and Physeter. Based on cranial, mandibular, and dental morphology, these Miocene forms were tentatively identified as macroraptorial feeders, able to consume proportionally large prey using their massive teeth and robust jaws. However, until now, no corroborating evidence for the use of teeth during predation was available. We report on a new specimen of the stem physeteroid Acrophyseter, from the late middle to early late Miocene of Peru, displaying unusual bony outgrowths along some of the upper alveoli. Considering their position and outer shape, these are identified as buccal maxillary exostoses. More developed along posterior teeth and in tight contact with the high portion of the dental root outside the bony alveoli, the exostoses are hypothesized to have developed during powerful bites; they may have worked as buttresses, strengthening the teeth when facing intense occlusal forces. These buccal exostoses further support a raptorial feeding technique for Acrophyseter and, indirectly, for other extinct sperm whales with a similar oral apparatus ( Brygmophyseter, Livyatan, Zygophyseter). With a wide size range, these Miocene stem physeteroids were major marine macropredators, occupying ecological niches nowadays mostly taken by killer whales.

  16. Ultrasonographic appearance of bony abnormalities at the dorsal aspect of the fetlock joint in geriatric cadaver horses. (United States)

    Vanderperren, K; Gielen, I; Van Caelenberg, A; Van der Vekens, E; Raes, E V; Hauspie, S; van Bree, H; Saunders, J H


    This article describes the ultrasonographic (US) appearance of bony abnormalities on the dorsal aspect of the third metacarpal/metatarsal bone of the equine fetlock in cadavers with radiographic signs of osteoarthrosis. After US, computed tomography was undertaken to better characterise the lesions. Twelve fetlock joints were collected and all had more than one bone abnormality on US. Normal subchondral bone appeared on US as a well-defined and regular hyperechoic line with distal acoustic shadowing. Bone abnormalities detected on US included (1) gaps in the proximal subchondral bone filled with material of heterogeneous echogenicity, (2) bone fragments represented as small straight smoothly delineated hyperechoic lines with distal shadowing located superficial to the surface of the adjacent bone, (3) proximal new bone formation visible as mild to severe cortical protrusions, (4) marginal osteophytoses seen as an elevation of the hyperechoic surface of the subchondral bone at the edges of the joint surfaces, (5) indentations in subchondral bone seen as a concave deviation of the hyperechoic line without interruption, (6) focal or diffuse irregularities of the subchondral bone seen as disruptions of the normal smooth bony contours, and (7) focal hyperechoic spikes originating from the subchondral plate and invading the articular cartilage. These findings are discussed. Copyright © 2011 Elsevier Ltd. All rights reserved.

  17. Comparison of the bony remodelling of two synthetic biomaterials: aragonite 55% and aragonite 55% with active substance

    Energy Technology Data Exchange (ETDEWEB)

    Oudadesse, H [Universite de Rennes1, UMR-CNRS 6226, campus de beaulieu, 263 av. General Leclerc, 35042 Rennes (France); Derrien, A C [Universite de Rennes1, UMR-CNRS 6226, campus de beaulieu, 263 av. General Leclerc, 35042 Rennes (France); Martin, S [Universite de Rennes1, UMR-CNRS 6226, UFR Odontologie, 2 ave. du Pr. Leon Bernard, 35043 Rennes (France); Lucas-Girot, A [Universite de Rennes1, UMR-CNRS 6226, campus de beaulieu, 263 av. General Leclerc, 35042 Rennes (France); Cathelineau, G [Universite de Rennes1, UMR-CNRS 6226, UFR Odontologie, 2 ave. du Pr. Leon Bernard, 35043 Rennes (France)


    In this work, the in vivo behaviour of pure aragonite and vectabone, which is an association of aragonite and an active substance such as gentamicin, was studied to highlight the kinetic resorption of these two biomaterials with 55% of porosity destined for the filling or replacement of bony defects. The synthesis conditions and parameters we used permit us to obtain a biomaterial without a sintering stage. These conditions allow introducing of active substances at the first stage of the elaboration. In this work, the gentamycin antibiotic was associated with calcium carbonate (aragonite 55% with gentamycin) to deliver this active substance on the surgical site for local treatment. The tricalcium phosphate biomaterial was used as the control because of its high biocompatibility. The bony remodelling of these three biomaterials was studied by in vivo experiments. This study was ensured with neutron activation analysis (NAA). The resorption kinetic was elaborated and comparisons of the remodelling biomaterials CaCO{sub 3} 55% and CaCO{sub 3} 55% with gentamicin (vectabone) and tricalcium phosphate were carried out. The obtained results show that, 6 months after implantation, the mineral composition of vectabone and tricalcium phosphate becomes close to that of young bone. Twelve months after implantation, it becomes similar to that of mature bone.

  18. Bisphosphonate associated osteomyelitis of the jaw in patients with bony exposure: prevention, a new way of thinking

    Directory of Open Access Journals (Sweden)

    Arezo TARDAST


    Full Text Available Objective There is strong evidence of a link between the use of systemic bisphosphonates (BPs and osteonecrosis of the jaw, especially in cancer patients. Among risk factors for BRONJ, tooth extraction and immune suppressive drugs seem to have significant role on bone healing. Therefore, the importance of these parameters in development of BRONJ was reviewed in this retrospective study in two maxillofacial surgery units. Material and Methods From 2007 to 2012, 46 patients on bisphosphonate who had developed oral bony lesions participated in this study. The pharmacological exposure, comorbidities, maxillofacial findings, types of treatment and outcome data were collected from clinical and radiological records. Results The most frequently used BP was alendronate (67%. Tooth extraction was reported in 61% of patients with BRONJ. Systemic corticosteroids were prescribed in 35 cases (76% as an adjuvant for BP. Patients on corticosteroids had a lower probability of bony lesion healing (p<0.05 than patients without corticosteroids. Of the 46 patients who underwent conservative treatments, only ten were completely healed (21%. Conclusions Beside tooth extraction, corticosteroids were shown to be an implant risk factor for low rate of bone healing and hence the development of BRONJ. The outcome of conservative treatment was uncertain and this emphasizes the importance of prevention.

  19. Bisphosphonate associated osteomyelitis of the jaw in patients with bony exposure: prevention, a new way of thinking (United States)

    TARDAST, Arezo; SJÖMAN, Reine; LØES, Sigbjørn; ABTAHI, Jahan


    Objective There is strong evidence of a link between the use of systemic bisphosphonates (BPs) and osteonecrosis of the jaw, especially in cancer patients. Among risk factors for BRONJ, tooth extraction and immune suppressive drugs seem to have significant role on bone healing. Therefore, the importance of these parameters in development of BRONJ was reviewed in this retrospective study in two maxillofacial surgery units. Material and Methods From 2007 to 2012, 46 patients on bisphosphonate who had developed oral bony lesions participated in this study. The pharmacological exposure, comorbidities, maxillofacial findings, types of treatment and outcome data were collected from clinical and radiological records. Results The most frequently used BP was alendronate (67%). Tooth extraction was reported in 61% of patients with BRONJ. Systemic corticosteroids were prescribed in 35 cases (76%) as an adjuvant for BP. Patients on corticosteroids had a lower probability of bony lesion healing (pcorticosteroids. Of the 46 patients who underwent conservative treatments, only ten were completely healed (21%). Conclusions Beside tooth extraction, corticosteroids were shown to be an implant risk factor for low rate of bone healing and hence the development of BRONJ. The outcome of conservative treatment was uncertain and this emphasizes the importance of prevention. PMID:26221926

  20. Cortical tibial osteoperiosteal flap technique to achieve bony bridge in transtibial amputation: experience in nine adult patients. (United States)

    Mongon, Mauricio Leal; Piva, Felipe Alberto; Mistro Neto, Sylvio; Carvalho, Jose Andre; Belangero, William Dias; Livani, Bruno


    Amputation, especially of the lower limbs, is a surgical procedure that gives excellent results when conducted under the appropriate conditions. In 1949 Ertl developed a technique for transtibial osteomyoplastic amputation which restored the intraosseous pressure through canal obliteration and expanded the area of terminal support through a bony bridge between the fibula and distal tibia. The aim of this study was to investigate the effectiveness of a modification of the original Ertl's technique in which a cortical osteoperiosteal flap created from the tibia is used to form a bony bridge during transtibial amputation in adults. Nine patients underwent leg amputations with the cortical tibial osteoperiosteal flap technique for reconstruction of the stump. The average duration of follow-up was 30.8 (range, 18-41) months. The post-surgery examination included a clinical examination and radiography. A 6-min walk test (Enright in Respir Care 48(8):783-785, 2003) was performed in the 32nd week after amputation. At 24th week post-surgery, all patients had stumps that were painless and able to bear full weight through the end. The creation of a cortical osteoperiosteal flap from the tibia to the fibula during transtibial amputation is a safe and effective technique that provides a strong and painless terminal weight-bearing stump. This constitutes a useful option for young patients, athletes, and patients with high physical demands.

  1. Primary flap closure combined with Emdogain alone or Emdogain and Cerasorb in the treatment of intra-bony defects. (United States)

    Bokan, Ivan; Bill, Josip S; Schlagenhauf, Ulrich


    To compare clinical outcomes of three different modalities of treatment for deep intra-bony defects. Fifty-six patients were paralleled for clinical parameters and randomly assigned to treatment. They displayed one angular defect each with an intra-bony component > or =3 mm, probing pocket depth (PPD) and probing attachment level (PAL) > or =7 mm, and plaque index (PI) <1. Nineteen defects were treated, respectively, with enamel matrix derivative (EMD)+tricalcium phosphate (TCP) or EMD alone and 18 defects with modified Widman flap (MWF). Primary flap closure was used in all three groups. PI, gingival index, bleeding on probing, PPD, PAL, and recession (REC) were measured before and 12 months after treatment. Treatment with EMD alone yielded a 3.9+/-1.3 mm PPD decrease and a 3.7+/-1.0 mm PAL gain (p<0.001), whereas EMD+beta-TCP produced a 4.1+/-1.2 mm PPD reduction and a 4.0+/-1.0 mm PAL gain (p<0.001). These outcome parameters did not differ between the two groups. REC increased by 0.7+/-1.3 mm. After MWF treatment, attachment gain was 2.1+/-1.4 mm (p<0.001) and PPD reduction was 3.8+/-1.8 mm, whereas REC increased by 1.5+/-0.7 mm (p=0.042 versus EMD). Both EMD treatments showed similar clinical effects, with significant PAL gain and a significantly lower REC increase in comparison with MWF treatment.

  2. [Neuro-muscular apparatus state in lumbosacral radiculopathy in miners]. (United States)

    Battakova, Sh B; Amanbekov, U A; Otarbaeva, M B; Fazylova, M D; Sraĭmanov, K S; Miianova, G A; Kozhakhmetova, K M


    Based on clinical and electrophysiologic studies, the authors analysed neuro-muscular apparatus of "spinal center--periphery" axis for miners with radicular pain caused by occupational lumbosacral radiculopathy. Findings are that constantly irritated receptors in lumbar motor segment during occupational activities alter habitual motor stereotype and cause specific compensatory muscular reactions, rearrangement of motor activity in segmental apparatus.

  3. Dysphagia in Duchenne Muscular Dystrophy Assessed by Validated Questionnaire (United States)

    Archer, Sally K.; Garrod, Rachel; Hart, Nicholas; Miller, Simon


    Background: Duchenne muscular dystrophy (DMD) leads to progressive muscular weakness and death, most typically from respiratory complications. Dysphagia is common in DMD; however, the most appropriate swallowing assessments have not been universally agreed and the symptoms of dysphagia remain under-reported. Aims: To investigate symptoms of…

  4. Duchenne and Becker muscular dystrophy prevalence in South ...

    African Journals Online (AJOL)


    Jul 28, 1993 ... A genetic service for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was initiated in. Cape Town in 1987. Of the 143 DMD patients diagnosed during the period 1987-1992, 66 had a familial pattern of inheritance and 77 were apparently sporadic. Twenw BMD patients were ...

  5. Morphologic imaging in muscular dystrophies and inflammatory myopathies

    Energy Technology Data Exchange (ETDEWEB)

    Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick [CHU de Lille, Clinique neurologique, Lille (France); Morillon, David; Cotten, Anne [CHRU de Lille, Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, Lille (France); Stojkovic, Tanya [G-H Pitie-Salpetriere, Institut de Myologie, Paris (France)


    To determine if magnetic resonance imaging (MR imaging) is useful in the diagnostic workup of muscular dystrophies and idiopathic inflammatory myopathies for describing the topography of muscle involvement. MR imaging was performed in 31 patients: 8 with dystrophic myotony types 1 (n = 4) or 2 (n = 4); 11 with limb-girdle muscular dystrophy, including dysferlinopathy, calpainopathy, sarcoglycanopathy, and dystrophy associated with fukutin-related protein mutation; 3 with Becker muscular dystrophy; and 9 with idiopathic inflammatory myopathies, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Analysis of T1 images enabled us to describe the most affected muscles and the muscles usually spared for each muscular disease. In particular, examination of pelvis, thigh, and leg muscles demonstrated significant differences between the muscular diseases. On STIR images, hyperintensities were present in 62% of our patients with muscular dystrophies. A specific pattern of muscular involvement was established for each muscular disease. Hyperintensities observed on STIR images precede fatty degeneration and are not specific for inflammatory myopathies. (orig.)

  6. Limb girdle muscular dystrophy: reappraisal of a rejected entity

    NARCIS (Netherlands)

    van der Kooi, A. J.; de Visser, M.; Barth, P. G.


    The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness. Families with evidence of both autosomal recessive and autosomal dominant modes of inheritance have been described.

  7. Clinico-epidemiologic characteristics of spinal muscular atrophy ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    Abstract Spinal muscular atrophy (SMA) is characterized by progressive hypotonia and muscular weakness because of progressive degeneration of alpha motor neuron from anterior horn cells in the spinal cord. It is inherited by an autosomal recessive pattern. The precise frequency of SMA in Egypt has not been ...

  8. Clinico-epidemiologic characteristics of spinal muscular atrophy ...

    African Journals Online (AJOL)

    Spinal muscular atrophy (SMA) is characterized by progressive hypotonia and muscular weakness because of progressive degeneration of alpha motor neuron from anterior horn cells in the spinal cord. It is inherited by an autosomal recessive pattern. The precise frequency of SMA in Egypt has not been determined.

  9. A unifying genetic model for facioscapulohumeral muscular dystrophy.

    NARCIS (Netherlands)

    Lemmers, R.J.; Vliet, P.J.C. Van; Klooster, R.; Sacconi, S.; Camano, P.; Dauwerse, J.G.; Snider, L.; Straasheijm, K.R.; Ommen, G.J.B. van; Padberg, G.W.A.M.; Miller, D.G.; Tapscott, S.J.; Tawil, R.; Frants, R.R.; Maarel, S.M. van der


    Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathogenic

  10. Neurological manifestations of Ehlers-Danlos syndrome(s): A review (United States)

    Castori, Marco; C. Voermans, Nicol


    The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders. PMID:25632331

  11. Diagnosis and etiology of congenital muscular dystrophy. (United States)

    Peat, R A; Smith, J M; Compton, A G; Baker, N L; Pace, R A; Burkin, D J; Kaufman, S J; Lamandé, S R; North, K N


    We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort. We screened 101 patients with CMD with a combination of immunofluorescence, Western blotting, and DNA sequencing to identify disease-associated abnormalities in glycosylated alpha-dystroglycan, collagen VI, laminin alpha2, alpha7-integrin, and selenoprotein. A total of 45% of the CMD cohort were assigned to an immunofluorescent subgroup based on their abnormal staining pattern. Abnormal staining for glycosylated alpha-dystroglycan was present in 25% of patients, and approximately half of these had reduced glycosylated alpha-dystroglycan by Western blot. Sequencing of the FKRP, fukutin, POMGnT1, and POMT1 genes in all patients with abnormal alpha-dystroglycan immunofluorescence identified mutations in one patient for each of these genes and two patients had mutations in POMT2. Twelve percent of patients had abnormalities in collagen VI immunofluorescence, and we identified disease-causing COL6 mutations in eight of nine patients in whom the genes were sequenced. Laminin alpha2 deficiency accounted for only 8% of CMD. alpha7-Integrin staining was absent in 12 of 45 patients studied, and ITGA7 gene mutations were excluded in all of these patients. We define the distribution of different forms of congenital muscular dystrophy in a large cohort of mixed ethnicity and demonstrate the utility and limitations of current diagnostic techniques.

  12. Muscle MRI findings in facioscapulohumeral muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gerevini, Simonetta; Caliendo, Giandomenico; Falini, Andrea [IRCCS San Raffaele Scientific Institute, Neuroradiology Unit, Head and Neck Department, Milan (Italy); Scarlato, Marina; Previtali, Stefano Carlo [IRCCS San Raffaele Scientific Institute, Department of Neurology, INSPE and Division of Neuroscience, Milan (Italy); Maggi, Lorenzo; Pasanisi, Barbara; Morandi, Lucia [Fondazione IRCCS Istituto Neurologico ' ' Carlo Besta' ' , Neuromuscular Diseases and Neuroimmunology Unit, Milan (Italy); Cava, Mariangela [IRCCS San Raffaele Scientific Institute, Department of Radiology and Center for Experimental Imaging, Milan (Italy)


    Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations. Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD). In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients. In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease. (orig.)

  13. Congenital muscular dystrophy with inflammation: Diagnostic considerations

    Directory of Open Access Journals (Sweden)

    Kaumudi Konkay


    Full Text Available Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α 2 deficiency on immunohistochemistry (IHC. Material and Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E, enzyme and immunohistochemistry (IHC with laminin α 2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α 2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α 2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones and three showed discontinuous, and less intense staining. Conclusions: CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α 2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones.

  14. Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy (United States)

    Tasca, Giorgio; Monforte, Mauro; Iannaccone, Elisabetta; Laschena, Francesco; Ottaviani, Pierfrancesco; Leoncini, Emanuele; Boccia, Stefania; Galluzzi, Giuliana; Pelliccioni, Marco; Masciullo, Marcella; Frusciante, Roberto; Mercuri, Eugenio; Ricci, Enzo


    Background In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment. Methods We propose an MRI protocol evaluating neck and upper girdle muscles. One hundred-eight consecutive symptomatic FSHD patients and 45 patients affected by muscular dystrophies and myopathies with prominent upper girdle involvement underwent this protocol. Acquired scans were retrospectively analyzed. Results The trapezius (100% of the patients) and serratus anterior (85% of the patients) were the most and earliest affected muscles in FSHD, followed by the latissimus dorsi and pectoralis major, whilst spinati and subscapularis (involved in less than 4% of the patients) were consistently spared even in late disease stages. Asymmetry and hyperintensities on short-tau inversion recovery (STIR) sequences were common features, and STIR hyperintensities could also be found in muscles not showing signs of fatty replacement. The overall involvement appears to be disease-specific in FSHD as it significantly differed from that encountered in the other myopathies. Conclusions The detailed knowledge of single muscle involvement provides useful information for correctly evaluating patients' motor function and to set a baseline for natural history studies. Upper girdle imaging can also be used as an additional tool helpful in supporting the diagnosis of FSHD in unclear situations, and may contribute with hints on the currently largely unknown molecular pathogenesis of this disease. PMID:24932477

  15. Emerging drugs for Duchenne muscular dystrophy. (United States)

    Malik, Vinod; Rodino-Klapac, Louise R; Mendell, Jerry R


    Duchenne muscular dystrophy (DMD) is the most common, severe childhood form of muscular dystrophy. Treatment is limited to glucocorticoids that have the benefit of prolonging ambulation by approximately 2 years and preventing scoliosis. Finding a more satisfactory treatment should focus on maintaining long-term efficacy with a minimal side effect profile. Authors discuss different therapeutic strategies that have been used in pre-clinical and clinical settings. Multiple treatment approaches have emerged. Most attractive are molecular-based therapies that can express the missing dystrophin protein (exon skipping or mutation suppression) or a surrogate gene product (utrophin). Other approaches include increasing the strength of muscles (myostatin inhibitors), reducing muscle fibrosis and decreasing oxidative stress. Additional targets include inhibiting NF-κB to reduce inflammation or promoting skeletal muscle blood flow and muscle contractility using phosphodiesterase inhibitors or nitric oxide (NO) donors. The potential for each of these treatment strategies to enter clinical trials is a central theme of discussion. The review emphasizes that the goal of treatment should be to find a product at least as good as glucocorticoids with a lower side effect profile or with a significant glucocorticoid sparing effect.

  16. The superhealing MRL background improves muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Heydemann Ahlke


    Full Text Available Abstract Background Mice from the MRL or “superhealing” strain have enhanced repair after acute injury to the skin, cornea, and heart. We now tested an admixture of the MRL genome and found that it altered the course of muscle pathology and cardiac function in a chronic disease model of skeletal and cardiac muscle. Mice lacking γ-sarcoglycan (Sgcg, a dystrophin-associated protein, develop muscular dystrophy and cardiomyopathy similar to their human counterparts with limb girdle muscular dystrophy. With disruption of the dystrophin complex, the muscle plasma membrane becomes leaky and muscles develop increased fibrosis. Methods MRL/MpJ mice were bred with Sgcg mice, and cardiac function was measured. Muscles were assessed for fibrosis and membrane leak using measurements of hydroxyproline and Evans blue dye. Quantitative trait locus mapping was conducted using single nucleotide polymorphisms distinct between the two parental strains. Results Introduction of the MRL genome reduced fibrosis but did not alter membrane leak in skeletal muscle of the Sgcg model. The MRL genome was also associated with improved cardiac function with reversal of depressed fractional shortening and the left ventricular ejection fraction. We conducted a genome-wide analysis of genetic modifiers and found that a region on chromosome 2 was associated with cardiac, diaphragm muscle and abdominal muscle fibrosis. Conclusions These data are consistent with a model where the MRL genome acts in a dominant manner to suppress fibrosis in this chronic disease setting of heart and muscle disease.

  17. Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies. (United States)

    Hightower, Rylie M; Alexander, Matthew S


    Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. Muscle Nerve 57: 6-15, 2018. © 2017 Wiley Periodicals, Inc.

  18. Why is muscularity sexy? Tests of the fitness indicator hypothesis. (United States)

    Frederick, David A; Haselton, Martie G


    Evolutionary scientists propose that exaggerated secondary sexual characteristics are cues of genes that increase offspring viability or reproductive success. In six studies the hypothesis that muscularity is one such cue is tested. As predicted, women rate muscular men as sexier, more physically dominant and volatile, and less committed to their mates than nonmuscular men. Consistent with the inverted-U hypothesis of masculine traits, men with moderate muscularity are rated most attractive. Consistent with past research on fitness cues, across two measures, women indicate that their most recent short-term sex partners were more muscular than their other sex partners (ds = .36, .47). Across three studies, when controlling for other characteristics (e.g., body fat), muscular men rate their bodies as sexier to women (partial rs = .49-.62) and report more lifetime sex partners (partial rs = .20-.27), short-term partners (partial rs = .25-.28), and more affairs with mated women (partial r = .28).


    Directory of Open Access Journals (Sweden)

    Ionela MANIU


    Full Text Available The aim of this article is to investigate the factors that are influencing student satisfaction in case of neurology related massive open online courses (MOOCs. We analyzed data collected from learners enrolled in 40 neurology related MOOCs, by manually looking for information in these courses reviews. The main identified satisfaction factors can be grouped into the following categories: content related factors: course content, additional materials, assignments, external research and teaching - learning related factors (teacher presentation techniques / style: engaging, clear, coherent, knowledgeable, sharing / explanation, interactive, excitement, considering student’s needs, inspiring, sense of humor. Competences, skills and objectives pursued by neurology related MOOCs are also discussed. Analyzing these factors can be useful in new courses management (design and implementation and also in understanding the needs (motivation, behaviors, perception of 21st century learners interested in neurology related fields.

  20. [Voice disorders caused by neurological diseases]. (United States)

    Gamboa, J; Jiménez-Jiménez, F J; Mate, M A; Cobeta, I

    To review voice disorders in neurological diseases, with special emphasis to acoustic analysis. In the first part of this article we describe data regarding neural control of voice, physiology of phonation, and examination of the patient with voice disturbances, including the use of voice laboratory, acoustic analysis fundamentals, phonetometric measures and aerodynamic measures. In the second part, we review the voice disturbances associated to neurological diseases, emphasizing into movement disorders (specially Parkinson s disease, essential tremor, and spasmodic dysphonia). A number of neurological diseases causing alterations of corticospinal pathway, cerebellum, basal ganglia and upper and/or lower motoneurons can induce voice disturbances. Voice examination using ear, nose & throat examination, endoscopy and videorecording of laryngeal movements, acoustic analysis, elecroglottography, laryngeal electromyography, and aerodynamic measures, could be useful in the clinical examination of some neurological diseases.

  1. Axon guidance proteins in neurological disorders

    NARCIS (Netherlands)

    Van Battum, Eljo Y.; Brignani, Sara; Pasterkamp, R. Jeroen|info:eu-repo/dai/nl/197768814


    Many neurological disorders are characterised by structural changes in neuronal connections, ranging from presymptomatic synaptic changes to the loss or rewiring of entire axon bundles. The molecular mechanisms that underlie this perturbed connectivity are poorly understood, but recent studies

  2. Ketogenic diets, mitochondria, and neurological diseases

    National Research Council Canada - National Science Library

    Gano, Lindsey B; Patel, Manisha; Rho, Jong M


    The ketogenic diet (KD) is a broad-spectrum therapy for medically intractable epilepsy and is receiving growing attention as a potential treatment for neurological disorders arising in part from bioenergetic dysregulation...

  3. Transient Neurological Symptoms after Spinal Anesthesia

    Directory of Open Access Journals (Sweden)

    Zehra Hatipoglu


    Full Text Available Lidocaine has been used for more than 50 years for spinal anesthesia and has a remarkable safety record. In 1993, a new adverse effect, transient neurologic toxicity was described in patients recovering from spinal anesthesia with lidocaine. Transient neurological symptoms have been defined as pain in the lower extremities (buttocks, thighs and legs after an uncomplicated spinal anesthesia and after an initial full recovery during the immediate postoperative period (less than 24 h. The incidence of transient neurological symptoms reported in prospective, randomized trials varies from 4% to 37%. The etiology of transient neurological symptoms remains unkonwn. Despite the transient nature of this syndrome, it has proven to be difficult to treat effectively. Drug or some interventional therapy may be necessary. [Archives Medical Review Journal 2013; 22(1.000: 33-44

  4. Severe hypernatremia: survival without neurologic sequelae

    National Research Council Canada - National Science Library

    Borrego Domínguez, R R; Imaz Roncero, A; López-Herce Cid, J; Seriñá Ramírez, C


    .... She had a convulsive crisis without subsequent neurologic impairment. The second patient, a 3-year-old girl with pseudohypoaldosteronism type I and encephalopathy, had hypernatremia (203 mEq/l...

  5. Diabetic cachectic neuropathy: An uncommon neurological ...

    African Journals Online (AJOL)

    access article is distributed under. Creative Commons licence CC-BY-NC 4.0. CASE REPORT. Diabetic cachectic neuropathy: An uncommon neurological complication of diabetes. A Iyagba, MBBS, FWACP, FMCP; A Onwuchekwa, MBBS, FMCP.

  6. Neurological Complications Of Chronic Myeloid Leukaemia: Any ...

    African Journals Online (AJOL)

    , of the neurological deficits complicating chronic myeloid leukaemia. Method: Using patients\\' case folders and haematological malignancy register all cases of chronic myeloid leukaemia seen in Jos University Teaching Hospital between July ...

  7. Dermatology referrals in a neurological set up


    Deeptara Pathak Thapa; Amit Thapa


    Introduction: Dermatology is a specialty, which not only deals with dermatological problems with outpatient but also inpatients referrals. The importances of Dermatologist in hospital setting are rising due to changing condition of medical care. Since no peer-reviewed articles are available for dermatological problems in a neurological set up, we conducted this study to know about pattern of skin disorders in neurological patients. Material and Methods: The present study was a prospectiv...


    African Journals Online (AJOL)

    Les principaux diagnostics étaient: un Accident vasculaire cérébral (42,1%), un abcès cérébral (17,9%) et une méningo-encéphalite (ME) dans 11,9%. ... Death risk was in the one hand higher for neurological infectious than for stroke and in the second hand higher for neurological infectious than for all other diseases.

  9. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands : a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, Marianne


    Background Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

  10. Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy

    NARCIS (Netherlands)

    de Visser, M.; Verbeeten, B.


    Results of computed tomographic (CT) examination of the skeletal musculature in 26 patients with Becker-type muscular dystrophy (BMD) and 12 patients with benign infantile spinal muscular atrophy (BISMA) are presented. Both disorders revealed strikingly different changes that may have important

  11. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, E. M.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; Leschot, N. J.; van Essen, A. J.; Brunner, H. G.; van der Wouw, P. A.; Wilde, A. A.; de Visser, M.


    BACKGROUND: Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

  12. Neurological Disorders in Adult Celiac Disease

    Directory of Open Access Journals (Sweden)

    Hugh J Freeman


    Full Text Available Celiac disease may initially present as a neurological disorder. Alternatively, celiac disease may be complicated by neurological changes. With impaired nutrient absorption, different deficiency syndromes may occur and these may be manifested clinically with neurological changes. However, in patients with deficiency syndromes, extensive involvement of the small intestine with celiac disease is often evident. There are a number of reports of celiac disease associated with neuropathy, ataxia, dementia and seizure disorder. In these reports, there is no clear relationship with nutrient deficiency and a precise mechanism for the neurological changes has not been defined. A small number of patients have been reported to have responded to vitamin E administration, but most do not. In some, gluten antibodies have also been described, especially in those with ataxia, but a consistent response to a gluten-free diet has not been defined. Screening for celiac disease should be considered in patients with unexplained neurological disorders, including ataxia and dementia. Further studies are needed, however, to determine if a gluten-free diet will lead to improvement in the associated neurological disorder.

  13. EEG in Sarcoidosis Patients Without Neurological Findings. (United States)

    Bilgin Topçuoğlu, Özgür; Kavas, Murat; Öztaş, Selahattin; Arınç, Sibel; Afşar, Gülgün; Saraç, Sema; Midi, İpek


    Sarcoidosis is a multisystem granulomatous disease affecting nervous system in 5% to 10% of patients. Magnetic resonance imaging (MRI) is accepted as the most sensitive method for detecting neurosarcoidosis. However, the most common findings in MRI are the nonspecific white matter lesions, which may be unrelated to sarcoidosis and can occur because of hypertension, diabetes mellitus, smoking, and other inflammatory or infectious disorders, as well. Autopsy studies report more frequent neurological involvement than the ante mortem studies. The aim of this study is to assess electroencephalography (EEG) in sarcoidosis patients without neurological findings in order to display asymptomatic neurological dysfunction. We performed EEG on 30 sarcoidosis patients without diagnosis of neurosarcoidosis or prior neurological comorbidities. Fourteen patients (46.7%) showed intermittant focal and/or generalized slowings while awake and not mentally activated. Seven (50%) of these 14 patients with EEG slowings had nonspecific white matter changes while the other half showed EEG slowings in the absence of MRI changes. We conclude that EEG slowings, when normal variants (psychomotor variant, temporal theta of elderly, frontal theta waves) are eliminated, may be an indicator of dysfunction in brain activity even in the absence of MRI findings. Hence, EEG may contribute toward detecting asymptomatic neurological dysfunction or probable future neurological involvement in sarcoidosis patients. © EEG and Clinical Neuroscience Society (ECNS) 2016.

  14. Neurological manifestations of dengue viral infection

    Directory of Open Access Journals (Sweden)

    Carod-Artal FJ


    Full Text Available Francisco Javier Carod-Artal1,21Neurology Department, Raigmore hospital, Inverness, UK; 2Universitat Internacional de Catalunya (UIC, Barcelona, Spain Abstract: Dengue is the most common mosquito-borne viral infection worldwide. There is increased evidence for dengue virus neurotropism, and neurological manifestations could make part of the clinical picture of dengue virus infection in at least 0.5%–7.4% of symptomatic cases. Neurological complications have been classified into dengue virus encephalopathy, dengue virus encephalitis, immune-mediated syndromes (acute disseminated encephalomyelitis, myelitis, Guillain–Barré syndrome, neuritis brachialis, acute cerebellitis, and others, neuromuscular complications (hypokalemic paralysis, transient benign muscle dysfunction and myositis, and dengue-associated stroke. Common neuro-ophthalmic complications are maculopathy and retinal vasculopathy. Pathogenic mechanisms include systemic complications and metabolic disturbances resulting in encephalopathy, direct effect of the virus provoking encephalitis, and postinfectious immune mechanisms causing immune-mediated syndromes. Dengue viruses should be considered as a cause of neurological disorders in endemic regions. Standardized case definitions for specific neurological complications are still needed. Keywords: encephalitis, encephalopathy, dengue fever, neurological complications

  15. A clinical study shows safety and efficacy of autologous bone marrow mononuclear cell therapy to improve quality of life in muscular dystrophy patients. (United States)

    Sharma, Alok; Sane, Hemangi; Badhe, Prerna; Gokulchandran, Nandini; Kulkarni, Pooja; Lohiya, Mamta; Biju, Hema; Jacob, V C


    Muscular dystrophy is a genetic disorder with no definite cure. A study was carried out on 150 patients diagnosed with muscular dystrophy. These included Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and Becker muscular dystrophy variants. They were administered autologous bone marrow-derived mononuclear cells intrathecally and intramuscularly at the motor points of the antigravity weak muscles followed by vigorous rehabilitation therapy. No significant adverse events were noted. Assessment after transplantation showed neurological improvements in trunk muscle strength, limb strength on manual muscle testing, gait improvements, and a favorable shift on assessment scales such as the Functional Independence Measure and the Brooke and Vignos Scales. Furthermore, imaging and electrophysiological studies also showed significant changes in selective cases. On a mean follow-up of 12 ± 1 months, overall 86.67% cases showed symptomatic and functional improvements, with six patients showing changes with respect to muscle regeneration and a decrease in fatty infiltration on musculoskeletal magnetic resonance imaging and nine showing improved muscle electrical activity on electromyography. Fifty-three percent of the cases showed an increase in trunk muscle strength, 48% showed an increase in upper limb strength, 59% showed an increase in lower limb strength, and approximately 10% showed improved gait. These data were statistically analyzed using Student's paired t test and found to be significant. The results show that this treatment is safe and efficacious and also improves the quality of life of patients having muscular dystrophy. This manuscript is published as part of the International Association of Neurorestoratology (IANR) supplement issue of Cell Transplantation.

  16. Childhood acute bacterial meningitis: risk factors for acute neurological complications and neurological sequelae. (United States)

    Antoniuk, Sérgio A; Hamdar, Fátima; Ducci, Renata D; Kira, Ariane T F; Cat, Mônica N L; Cruz, Cristina R da


    To assess acute neurological complications and neurological sequelae of childhood acute bacterial meningitis in order to determine possible warning signs. This retrospective study evaluated children with acute bacterial meningitis (between 1 month and 14 years of age) admitted between 2003 and 2006. Of the 44 patients studied, 17 (38.6%) had acute neurological complications. Seizure was the most frequent (31.8%) complication. Patients with acute neurological complications showed a higher frequency of lower neutrophil count (p = 0.03), seizure at admission (p 200 mg/dL (p < 0.01), and cerebrospinal fluid glucose concentration/glycemia ratio (p < 0.01) were identified as risk variables for sequelae. Neutrophil count < 60%, seizure at admission, and S. pneumoniae as the etiologic agent were identified as warning signs for acute neurological complications, while protein levels, cerebrospinal fluid glucose concentration/glycemia ratio, and seizure at admission were seen as risk factors for neurological sequelae.

  17. Isometric muscle training of the spine musculature in patients with spinal bony metastases under radiation therapy

    Directory of Open Access Journals (Sweden)

    Rief Harald


    Full Text Available Background Osseous metastatic involvement of the spinal column affects many patients with a primary tumour disease of all entities. The consequences are pain both at rest and under exertion, impairments in going about day-to-day activities, diminished performance, the risk of pathological fractures, and neurological deficits. Palliative percutaneous radiotherapy is one of the therapeutical options available in this connection. The aim of this explorative study is to investigate the feasibility of muscle-training exercises and to evaluate the progression- and fracture-free survival time and the improvement of bone density, as well as to assess other clinical parameters such as pain, quality of life, and fatigue as secondary endpoints. Methods/Design This study is a prospective, randomized, monocentre, controlled explorative intervention study in the parallel-group design to determine the multidimensional effects of a course of exercises at first under physiotherapeutic instruction and subsequently performed by the patients independently for strengthening the paravertebral muscles of patients with metastases of the vertebral column parallel to their percutaneous radiotherapy. On the days of radiation treatment the patients in the control group shall be given physical treatment in the form of respiratory therapy and the so-called "hot roll". The patients will be randomized into one of the two groups: differentiated muscle training or physiotherapy with thirty patients in each group. Discussion The aim of the study is to evaluate the feasibility of the training programme described here. Progression-free and fracture-free survival, improved response to radiotherapy by means of bone density, and clinical parameters such as pain, quality of life, and fatigue constitute secondary study objectives. Trial Registration NCT01409720

  18. Multiple neural tube defects: a rare combination of limited dorsal myeloschisis, diplomyelia with dorsal bony spur, sacral meningocoele, syringohydromyelia, and tethered cord. (United States)

    Shashank R, Ramdurg; Shubhi, Dubey; Vishal, Kadeli


    Multiple neural tube defects are relatively rare. They account for less than 1% reported neural tube defects. Cases of limited dorsal myeloschisis (LDM) and diplomyelia (two cords in single sac without intervening bony or fibrous septae) with dorsal bony spur are also a rare event. Here, the authors report a rare case of neonate with thoracic LDM, diplomyelia with dorsal bony spur, sacral meningocoele with syringohydromyelia, and low-lying tethered cord. The child also had a ventricular septal defect (VSD) and bilateral rocker bottom feet. Various environmental factors and genetic mutations in transmembrane proteins have been studied in animal models explaining the origin of neural tube defects. To the best of author's knowledge, this is the first case of varied multiple neural tube defects with diplomyelia reported in world literature.

  19. Muscular, cardiac, ventilatory and metabolic dysfunction in patients with multiple sclerosis: Implications for screening, clinical care and endurance and resistance exercise therapy, a scoping review. (United States)

    Wens, Inez; Eijnde, Bert O; Hansen, Dominique


    In the treatment of multiple sclerosis (MS), exercise training is now considered a cornerstone. However, most clinicians tend to focus on neurologic deficits only, and thus prefer to prescribe rehabilitation programs specifically to counteract these deficits. However, the present comprehensive review shows that patients with MS (pwMS) also experience significant muscular, cardiac, ventilatory and metabolic dysfunction, which significantly contribute, next to neurologic deficits, to exercise intolerance. In addition, these anomalies also might increase the risk for frequent hospitalization and morbidity and can reduce life expectancy. Unfortunately, the impact of exercise intervention on these anomalies in pwMS are mostly unknown. Therefore, it is suggested that pwMS should be screened systematically for muscular, cardiac, ventilatory and metabolic function during exercise testing. The detection of such anomalies should lead to adaptations and optimisation of exercise training prescription and clinical care/medical treatment of pwMS. In addition, future studies should focus on the impact of exercise intervention on muscular, cardiac, ventilatory and metabolic (dys)function in pwMS, to contribute to improved treatment and care. Copyright © 2016. Published by Elsevier B.V.

  20. Neurology in a globalizing world: World Congress of Neurology, Vienna, 2013. (United States)

    Hachinski, Vladimir


    The World Congress of Neurology (figure 1) theme "Neurology in a Globalizing World" acknowledges that science and increasingly medicine and neurology are becoming globalized. The best way to manage change is to shape it. It is becoming increasingly clear that brain diseases, particularly stroke and dementia, are projected to rise at a rate that could overwhelm our clinics and hospitals. Hence a new emphasis on prevention and the need to work across disciplines beyond our traditional roles. Neurologists are the guardians of the brain and need to take the lead role in advancing new approaches in stemming the tide of neurologic diseases.

  1. Relevant aspects of golden retriever muscular dystrophy for the study of Duchenne muscular dystrophy in humans

    Directory of Open Access Journals (Sweden)

    Julieta Rodini Engrácia de Moraes


    Full Text Available ABSTRACT: Golden Retriever muscular dystrophy (GRMD is the most representative model for studying Duchenne muscular dystrophy (DMD in humans, owing its phenotypic expression. DMD is a recessive disorder linked to the X chromosome in which the loss of dystrophin induces progressive weakness and degeneration of the skeletal and cardiac muscles, which lead to replacement by connective and adipose tissues. Onset of clinical signs occurs between 2 and 5 years of age, and many patients die from heart or respiratory failure. The main studies concerning dystrophic Golden Retrievers (DGR sought to elucidate the pathophysiology of the disease and its clinical implications to develop therapies and alternative treatments to improve the quality of life and increase longevity of DMD patients. This review presents an overview of relevant contributions of the DGR model for elucidating DMD in humans.

  2. Clinical course of the bony lesion of single-system single-site Langerhans cell histiocytosis - Is appropriate follow-up sufficient treatment? (United States)

    Sasaki, Hiromi; Nagano, Satoshi; Shimada, Hirofumi; Nakamura, Shunsuke; Setoguchi, Takao; Komiya, Setsuro


    Langerhans cell histiocytosis (LCH) is categorized into three types, which include single-system single-site (SS-s), single-system multiple-site (SS-m) and multisystem (MS). The most commonly affected site in LCH is bone, and the bony lesion of SS-s LCH has a good prognosis. The bony lesion of SS-s LCH has been thought to regress spontaneously. Although treatments such as curettage, direct injection of corticosteroids, and chemotherapy have been performed, regular follow-up is the first line of treatment for the bony lesion of SS-s LCH. For preventing orthopedic sequelae, strict and appropriate follow-up should be performed, but the appropriate period and method of follow-up has not yet been established. In the present study, we retrospectively analyzed a series of 7 cases of patients with SS-s LCH with a bony lesion treated in the Department of Orthopedic Surgery at Kagoshima University Hospital (Kagoshima, Japan) from 2006 to 2015. The bony lesion regressed spontaneously in all patients. Factors such as location, size, preoperative C-reactive protein (CRP) value, standardized uptake (SUV) value of positron emission tomography (PET), age, sex and direct steroid injection were not related to the clinical course. Temporary expansion of the lesion occurred in 3 patients and a temporary worsening of pain occurred in 1 patient during the follow-up period. These events occurred within 6 weeks after biopsy. Careful follow-up and the use of an appropriate orthosis can lead to a good clinical course for the bony lesion of SS-s LCH. Future research should seek to determine the appropriate follow-up period. Copyright © 2017 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.

  3. Status of neurology medical school education (United States)

    Ali, Imran I.; Isaacson, Richard S.; Safdieh, Joseph E.; Finney, Glen R.; Sowell, Michael K.; Sam, Maria C.; Anderson, Heather S.; Shin, Robert K.; Kraakevik, Jeff A.; Coleman, Mary; Drogan, Oksana


    Objective: To survey all US medical school clerkship directors (CDs) in neurology and to compare results from a similar survey in 2005. Methods: A survey was developed by a work group of the American Academy of Neurology Undergraduate Education Subcommittee, and sent to all neurology CDs listed in the American Academy of Neurology database. Comparisons were made to a similar 2005 survey. Results: Survey response rate was 73%. Neurology was required in 93% of responding schools. Duration of clerkships was 4 weeks in 74% and 3 weeks in 11%. Clerkships were taken in the third year in 56%, third or fourth year in 19%, and fourth year in 12%. Clerkship duration in 2012 was slightly shorter than in 2005 (fewer clerkships of ≥4 weeks, p = 0.125), but more clerkships have moved into the third year (fewer neurology clerkships during the fourth year, p = 0.051). Simulation training in lumbar punctures was available at 44% of schools, but only 2% of students attempted lumbar punctures on patients. CDs averaged 20% protected time, but reported that they needed at least 32%. Secretarial full-time equivalent was 0.50 or less in 71% of clerkships. Eighty-five percent of CDs were “very satisfied” or “somewhat satisfied,” but more than half experienced “burnout” and 35% had considered relinquishing their role. Conclusion: Trends in neurology undergraduate education since 2005 include shorter clerkships, migration into the third year, and increasing use of technology. CDs are generally satisfied, but report stressors, including inadequate protected time and departmental support. PMID:25305155

  4. New therapeutic approaches to spinal muscular atrophy. (United States)

    Lewelt, Aga; Newcomb, Tara M; Swoboda, Kathryn J


    Bench to bedside progress has been widely anticipated for a growing number of neurodegenerative disorders. Of these, spinal muscular atrophy (SMA) is perhaps the best poised to capitalize on advances in targeted therapeutics development over the next few years. Several laboratories have achieved compelling success in SMA animal models using sophisticated methods for targeted delivery, repair, or increased expression of the survival motor neuron protein, SMN. The clinical community is actively collaborating to identify, develop, and validate outcome measures and biomarkers in parallel with laboratory efforts. Innovative trial design and synergistic approaches to maximize proactive care in conjunction with treatment with one or more of the promising pharmacologic and biologic therapies currently in the pipeline will maximize our chances to achieve meaningful outcomes for patients. This review highlights recent promising scientific and clinical advances bringing us ever closer to effective treatment(s) for our patients with SMA.

  5. Current treatment of adult Duchenne muscular dystrophy. (United States)

    Wagner, Kathryn R; Lechtzin, Noah; Judge, Daniel P


    Patients with Duchenne muscular dystrophy (DMD) are living longer into adulthood due to a variety of improvements in health care practices. This growing patient population presents new therapeutic challenges. In this article, we review the literature on current treatment of adult DMD as well as our own experience as a multidisciplinary team actively caring for 23 men ages 19-38 years of age. Approximately one quarter of our adult DMD patients have remained on moderate dose corticosteroids. Daily stretching exercises are recommended, particularly of the distal upper extremities. Cardiomyopathy is anticipated, detected, and treated early with afterload reduction. Oxygen saturation monitoring, noninvasive positive pressure ventilation and cough assist devices are routinely used. Other medical issues such as osteoporosis, gastrointestinal and urinary symptoms are addressed. Current and future therapies directed at prolonging the lifespan of those with DMD will result in further increases in this adult population with special needs and concerns. These needs are best addressed in a multidisciplinary clinic.

  6. Electrodiagnostic evaluation in feline hypertrophic muscular dystrophy. (United States)

    Howard, J; Jaggy, A; Busato, A; Gaschen, F


    Standard needle electromyography (EMG) of 56 muscles and nerve conduction velocities (NCV) of the ulnar and common peroneal nerves were investigated in each of six cats affected with hypertrophic feline muscular dystrophy, 10 related heterozygote carriers and 10 normal cats. The EMG findings were considered normal in carrier and control cats, and consisted of 33% normal readings, 22% myotonic discharges, 18% fibrillation potentials, 11% prolonged insertional potentials, 10% complex repetitive discharges and 6% positive sharp waves in affected cats. Muscles of the proximal limbs were most frequently affected. No differences in NCV were found between the three cat groups. It was concluded that dystrophin-deficient dystrophic cats have widespread and frequent EMG changes, predominantly myotonic discharges and fibrillation potentials, which are most pronounced in the proximal appendicular muscles.

  7. Natural history of Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Qing KE


    Full Text Available Duchenne muscular dystrophy (DMD is X-linked recessive hereditary disease. DMD gene mutations result in dystrophin deficiency, which causes not only muscle movement disorders but also scoliosis, cognitive dysfunction, urinary tract diseases, respiratory diseases and heart diseases. Most patients die in early adult for respiratory and circulatory failure. Early multidisciplinary therapies will significantly delay disease progression and improve patients' quality of life. However, DMD diagnosis and treatment exist significantly time delay now. In this study, we review the natural history of DMD, including motor, cognitive, respiratory and heart function, for improving DMD early recognition, diagnosis and treatment, so as to benefit DMD patients. DOI: 10.3969/j.issn.1672-6731.2015.05.004

  8. Valproate and spinal muscular atrophy (Review). (United States)

    Natasha, Gemma; Brandom, Kevin G; Young, Elizabeth C; Young, Philip J


    Childhood spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations in the survival motor neuron (SMN) gene. The severity of the disease is dictated by the copy number of a second copy of the gene, known as SMN2, with higher copy numbers associated with milder forms of SMA. This is because the level of SMN protein produced by patients dictates the severity of the disease. As all patients retain at least one copy of the SMN2 gene, therapeutic strategies are geared towards increasing full-length SMN protein expression from SMN2. One of the identified therapeutic compounds is valproic acid, or valproate (VPA), a histone deacetylase inhibitor (HDACI) that has been used since the 1970s as an anti-convulsant. Here, we discuss VPA's modes of action and potential side effects in the treatment of SMA.

  9. 'Psyching-up' and muscular force production. (United States)

    Tod, David; Iredale, Fiona; Gill, Nicholas


    Psyching-up refers to self-directed cognitive strategies used immediately prior to or during skill execution that are designed to enhance performance. This review focuses on research that has investigated the effect of psyching-up on force production; specifically, strength, muscular endurance and power. Although firm conclusions are not possible, the research tentatively suggests that psyching-up may enhance performance during dynamic tasks requiring strength and/or muscular endurance. However, more research is required. Power has received scant empirical attention and there are not enough data to support any conclusions. Preparatory arousal appears to be the most effective strategy although other strategies like imagery, self-talk and attentional focus also have empirical support. The range of tasks that have been used to measure force production have been limited to movements such as handgrip, leg extension, bench press, sit-ups, press-ups, pull-ups, and the standing broad jump. Additionally, most studies have used undergraduate and/or untrained samples. Only a very small number of studies have examined well-trained individuals. Currently, no explanation for why psyching-up may influence force production has any substantive support. Although a small number of studies have examined moderating and mediating variables, few consistent patterns have emerged and knowledge in this area is somewhat restricted. Given the importance that many athletes place on their mental preparation just prior to performance this is an area that warrants further examination. Research needs to examine a range of complex sport-specific tasks and use well-trained samples. Additionally, research needs to further examine why psyching-up may enhance force production.

  10. Does bony hip morphology affect the outcome of treatment for patients with adductor-related groin pain?

    DEFF Research Database (Denmark)

    Hölmich, Per; Thorborg, Kristian; Nyvold, Per


    was assessed by a standardised clinical outcome combining patient-reported activity, symptoms and physical examination. Anterioposterior pelvic radiographs were obtained and the centre-edge angle of Wiberg, α angle, presence of a crossover sign and Tönnis grade of osteoarthritis were assessed by a blinded...... of the exercise treatment programme with results lasting 8-12 years. The entity of adductor-related groin pain in physically active adults can be treated with AT even in the presence of morphological changes to the hip joint.......BACKGROUND: Adductor-related groin pain and bony morphology such as femoroacetabular impingement (FAI) or hip dysplasia can coexist clinically. A previous randomised controlled trial in which athletes with adductor-related groin pain underwent either passive treatment (PT) or active treatment (AT...

  11. Blunt traumatic superior gluteal artery pseudoaneurysm presenting as gluteal hematoma without bony injury: A rare case report

    Directory of Open Access Journals (Sweden)

    Annu Babu


    Full Text Available Blunt traumatic injuries to the superior gluteal artery are rare in clinic. A majority of injuries present as aneurysms following penetrating trauma, fracture pelvis or posterior dislocation of the hip joint. We reported a rare case of superior gluteal artery pseudoaneurysm following blunt trauma presenting as large expanding right gluteal hematoma without any bony injury. The gluteal hematoma was suspected clinically, confirmed by ultrasound and the arterial injury was diagnosed by CT angiography that revealed a large right gluteal hematoma with a focal contrast leakage forming a pseudoaneurysm within the hematoma. Pseudoaneurysm arose from the superior gluteal branch of right internal iliac artery, which was successfully angioembolized. The patient was discharged on day 4 of hospitalization with resolving gluteal hematoma. This report highlighted the importance of considering an arterial injury following blunt trauma to the buttocks with subsequent painful swelling. Acknowledgment of this rare injury pattern was necessary to facilitate rapid diagnosis and appropriate treatment.

  12. Neurological disorder associated with pestivirus infection in sheep in Rio Grande do Sul, Brazil

    Directory of Open Access Journals (Sweden)

    Pescador Caroline Argenta


    Full Text Available A two-month-old lamb showing signs of severe neurological disease characterized by muscular tremors, hypermetria, and motor incoordination was submitted to the Veterinary Pathology Laboratory - Universidade Federal do Rio Grande do Sul, Brazil. At necropsy, the major findings were a marked reduction of the size of the cerebellum and bilateral dilatation of the lateral ventricles. Microscopically, areas of cellular disorganization in the cerebellar cortex, reduction of the granular layer of cerebellum associated with decreased density of cells, and the presence of large cytoplasmic vacuoles in the molecular layer were observed. Neurons of the gray matter of the brain and macrophages of the mesenteric lymph nodes stained positively by the immunohistochemistry test using the monoclonal antibody 15C5 against Bovine Viral Diarrhea Virus. Taken together, those results are consistent with a pestivirus infection, either Border Disease Virus (BDV or BVDV.

  13. [Early prediction of the neurological result at 12 months in newborns at neurological risk]. (United States)

    Herbón, F; Garibotti, G; Moguilevsky, J


    The aim of this study was to evaluate the Amiel-Tison neurological examination (AT) and cranial ultrasound at term for predicting the neurological result at 12 months in newborns with neurological risk. The study included 89 newborns with high risk of neurological damage, who were discharged from the Neonatal Intensive Care of the Hospital Zonal Bariloche, Argentina. The assessment consisted of a neurological examination and cranial ultrasound at term, and neurological examination and evaluation of development at 12 months. The sensitivity, specificity, positive and negative predictor value was calculated. The relationship between perinatal factors and neurodevelopment at 12 month of age was also calculated using logistic regression models. Seventy children completed the follow-up. At 12 months of age, 14% had an abnormal neurological examination, and 17% abnormal development. The neurological examination and the cranial ultrasound at term had low sensitivity to predict abnormal neurodevelopment. At 12 months, 93% of newborns with normal AT showed normal neurological results, and 86% normal development. Among newborns with normal cranial ultrasound the percentages were 90 and 81%, respectively. Among children with three or more perinatal risk factors, the frequency of abnormalities in the neurological response was 5.4 times higher than among those with fewer risk factors, and abnormal development was 3.5 times more frequent. The neurological examination and cranial ultrasound at term had low sensitivity but high negative predictive value for the neurodevelopment at 12 months. Three or more perinatal risk factors were associated with neurodevelopment abnormalities at 12 months of age. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  14. Standards in Neurological Rehabilitation, June 1997

    Directory of Open Access Journals (Sweden)

    Michael P. Barnes


    Full Text Available The European Federation of Neurological Societies (EFNS Scientific Panel on Neurorehabilitation established a Task Force on standards in neurological rehabilitation in June 1996. The remit for the Task Force was to: (1 produce a report on the state of neurological rehabilitation across Europe; and (2 recommend standards for the provision of neurological services for disabled people. The main conclusions of the Task Force were as follows: (1 A questionnaire circulated to each European member country has indicated a significant lack of adequate neurological rehabilitation facilities across Europe. Very few countries have any established network of neurological rehabilitation centres. Few countries have adequately trained neurological rehabilitation physicians, therapists or nurses. Such poor facilities should be seen in the context of the large numbers and increasing prevalence of people with neurological disabilities. (2 The Task Force has summarized the significant benefits that can follow from the establishment of a dedicated and cost effective neurological rehabilitation service including functional improvement, reduction of unnecessary complications, better coordination and use of limited resources, improved opportunities for education, training and research and a clear point of contact for the disabled person. (3 The Task Force recommends minimum standards for the prevention of neurological disability including access to health education, genetic counselling and emergency resources. The Task Force also encourages governments to invest in improved legislation for accident prevention. (4 The Task Force has outlined some minimum standards for the staffing of a neurological rehabilitation service including improved training both for neurologists and rehabilitation physicians. Such training could include a cross-national training programme both for physicians and other health care staff. (5 The Task Force supports a two-tier system of

  15. A carapace-like bony 'body tube' in an early triassic marine reptile and the onset of marine tetrapod predation. (United States)

    Chen, Xiao-hong; Motani, Ryosuke; Cheng, Long; Jiang, Da-yong; Rieppel, Olivier


    Parahupehsuchus longus is a new species of marine reptile from the Lower Triassic of Yuan'an County, Hubei Province, China. It is unique among vertebrates for having a body wall that is completely surrounded by a bony tube, about 50 cm long and 6.5 cm deep, comprising overlapping ribs and gastralia. This tube and bony ossicles on the back are best interpreted as anti-predatory features, suggesting that there was predation pressure upon marine tetrapods in the Early Triassic. There is at least one sauropterygian that is sufficiently large to feed on Parahupehsuchus in the Nanzhang-Yuan'an fauna, together with six more species of potential prey marine reptiles with various degrees of body protection. Modern predators of marine tetrapods belong to the highest trophic levels in the marine ecosystem but such predators did not always exist through geologic time. The indication of marine-tetrapod feeding in the Nanzhang-Yuan'an fauna suggests that such a trophic level emerged for the first time in the Early Triassic. The recovery from the end-Permian extinction probably proceeded faster than traditionally thought for marine predators. Parahupehsuchus has superficially turtle-like features, namely expanded ribs without intercostal space, very short transverse processes, and a dorsal outgrowth from the neural spine. However, these features are structurally different from their turtle counterparts. Phylogeny suggests that they are convergent with the condition in turtles, which has a fundamentally different body plan that involves the folding of the body wall. Expanded ribs without intercostal space evolved at least twice and probably even more among reptiles.

  16. [Deficiency, disability, neurology and television series]. (United States)

    Collado-Vázquez, Susana; Martínez-Martínez, Ariadna; Cano-de-la-Cuerda, Roberto


    The portrayal of neurological disability and deficiency on television has not always been approached in the same way, but has instead tended to reflect the standpoint taken by society with regard to these issues and how they are dealt with according to the prevailing conceptions and values at each particular time. To address the appearance of neurological pathologies in television series and to ponder on the image they have in such contexts. Deficiency and disability of neurological origin have often been depicted on television in series, telefilms and documentaries, and in a wide variety of ways. Here we examine different television series and how they have dealt with neurological pathology, its diagnosis and its treatment, as well as the figure of the healthcare professional and social-familial adaptation. Examples cited include series such as House MD, Glee, American Horror Story, Homeland or Game of Thrones. Television series are a useful tool for making some neurological pathologies better known to the public and for dispelling the myths surrounding others, provided that the pathologies are dealt with in a realistic manner, which is not always the case. More care should be taken with regard to the way in which health professionals are portrayed in television series, as it is not always done correctly and may mislead viewers, who take what they see on the TV as being real.

  17. Intervertebral Disc Characteristic on Progressive Neurological Deficit

    Directory of Open Access Journals (Sweden)

    Farid Yudoyono


    Full Text Available Objective: To examine the intervertebral disc characteristic on magnetic resonance imaging (MRI in lumbar herniated disc (LHD patients with progressive neurological deficit. Methods: Patients were collected retrospectively from Dr. Hasan Sadikin General Hospital Database from 2011–2013 with LHD, had neurological deficit such as radiculopathy and cauda equine syndrome for less than four weeks with a positive sign confirmed by neurological examination and confirmatory with MRI examination. Results: A total of 14 patients with lumbar herniated disc disease (10 males, 4 females suffered from progressive neurological deficit with an average age of (52.07±10.9 years old. Early disc height was 9.38±0.5 mm and progressive neurological deficit state disc height was 4.03±0.53 mm, which were significantly different statisticaly (p<0.01. Symptoms of radiculopathy were seen in 11 patients and cauda equine syndrome in three patients. Modic changes grade 1 was found in five patients, grade 2 in eight patients,grade 3 in one patient, Pfirmman grade 2 in eleven patients and grade 3 in three patients. Thecal sac compression 1/3 compression was seen in four patients and 2/3 compression in ten patients. Conclusions: Neurosurgeon should raise concerns on the characteristic changes of intervertebral disc in magnetic resonance imaging examination to avoid further neural injury in lumbar herniated disc patients.

  18. [Neurologic presentation in haemolytic-uraemic syndrome]. (United States)

    Roche-Martínez, A; Póo, P; Maristany-Cucurella, M; Jiménez-Llort, A; Camacho, J A; Campistol, J

    Haemolytic-uraemic syndrome (HUS) is characterized by microangiopathic hemolytic anaemia, thrombopenia and multiorganic aggression, specially renal, gastrointestinal and central nervous system disturbances. Sporadic in Spain (2/1,500,000 inhabitants), its clinical onset includes acute renal failure, hypertension and central nervous system symptoms (irritability, drowsiness, convulsions, cortical blindness, hemiparesia or coma), due to metabolic distress, hypertension or central nervous system microangiopathy. Few long-term outcome studies have been published. A retrospective analysis of a series of 58 patients with HUS between 1981 and 2006, is reported. Clinical onset, laboratory, electrophysiology, neuroimaging tests, and prognosis factors are reviewed, together with long-term clinical outcome. 22 children presented neurologic symptoms, seven had some neurological test; one patient died; in five some neurological sequelae persisted (hemiparesia, cognitive deficit, visual-perception deficit), the other 16 remaining asymptomatic. Neurological morbility is high in HUS (27% of the children with neurological symptoms), with a 1.7% mortality. Seizure at onset was not a poor prognosis factor in our group. No positive correlation can be established between neuroimaging and long-term outcome.

  19. Neurology referrals to a liaison psychiatry service.

    LENUS (Irish Health Repository)

    Fitzgerald, P


    The objective of the present study was to assess the activity of the Liaison Psychiatry service of Cork University Hospital in relation to all in-patient neurology referrals over a 12-month period. Of 1685 neurology admissions, 106 (6%) were referred to liaison psychiatry for assessment. 91 referrals (86%) met criteria for a psychiatric disorder according to DSM-IV, the commonest being major depression (24%) and somatoform disorder (23%). Patients with multiple sclerosis or epilepsy comprised nearly half of all referrals (48 cases; 45%). Approximately 20% of M.S. in-patients (21 cases) were referred for psychiatric assessment, with the corresponding figure in epilepsy being 25% (18 cases). Although only 106 (6%) neurology in-patients were referred to liaison psychiatry, psychiatric diagnoses were documented in 327 (20%) discharge forms, presumably reflecting previous diagnosis. The above findings indicate that psychiatric illness is common among neurology inpatients screened by liaison psychiatry yet referral rates are relatively low in terms of the overall number of neurology in-patients. Psychiatric disorders were diagnosed in 86% of referrals indicating high concordance between neurologists and liaison psychiatry regarding the presence of a psychiatric disorder.

  20. [Neurologic involvement in juvenile rheumatoid arthritis]. (United States)

    Carbajal-Rodríguez, L; Perea-Martínez, A; Loredo-Abdalá, A; Rodríguez-Herrera, R; del Angel-Aguilar, A; Reynes-Manzur, J N


    The neurologic complication seen in children with juvenile rheumatoid arthritis (JRA) has hardly been studied for which therefore its prevalence is unknown. Some of the clinical manifestations surrounding this event have been studied and have been divided into the following two groups: cervical articular spinal disease and extra-articular manifestations, more commonly seen in adults, the atlas-axoidal subluxation and the neuropathies. A group of 213 children diagnosed as having JRA according to the criteria setforth by the American Association of Rheumatology and followed by the Department of Internal Medicine of the National Institute of Pediatrics, 10 patients were found to have neurologic symptomatology (4.6%). Their arthritis was studied as well as their association with activity data and seropositivity. We found 6 female and 4 male patients with neurologic manifestations; their ages ranged from 7 to 14 years. Six of them were diagnosed with sero-positive polyarticular JRA and the other four with polyarticular sero-negative. All patients showed some activity and the appearance of the neurologic complications ranged between two months and seven years. No correlation was found between the beginning of the arthritis and the neurologic symptomatology, their sex or the type of arthritis. Seven of the cases showed peripheral neuropathy. Two cases had atlas-atloid subluxation and another child showed having cervical column inflammation with a rheumatoid pannus.(ABSTRACT TRUNCATED AT 250 WORDS)

  1. Neurological Manifestations of Medical Child Abuse. (United States)

    Doughty, Katharine; Rood, Corey; Patel, Anup; Thackeray, Jonathan D; Brink, Farah W


    Medical child abuse occurs when a child receives unnecessary and harmful, or potentially harmful, medical care at the instigation of a caretaker through exaggeration, falsification, or induction of symptoms of illness in a child. Neurological manifestations are common with this type of maltreatment. We sought to review common reported neurological manifestations that may alert the clinician to consider medical child abuse. In addition, the possible sequelae of this form of child maltreatment is discussed, as well as practice recommendations for establishing the diagnosis and stopping the abuse once it is identified. A review of the medical literature was conducted regarding the reported neurological presentations of this entity. Neurological manifestations of medical child abuse include false reports of apparent life-threatening events and seizures and reports of induction of symptoms from poisoning. Failure to correlate objective findings with subjective complaints may lead to unnecessary and potentially harmful testing or treatment. This form of child maltreatment puts a child at significant risk of long-term morbidity and mortality. A wide variety of neurological manifestations have been reported in cases of medical child abuse. It is important for the practicing neurologist to include medical child abuse on the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Neurological complications in chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Ria Arnold


    Full Text Available Patients with chronic kidney disease (CKD are frequently afflicted with neurological complications. These complications can potentially affect both the central and peripheral nervous systems. Common neurological complications in CKD include stroke, cognitive dysfunction, encephalopathy, peripheral and autonomic neuropathies. These conditions have significant impact not only on patient morbidity but also on mortality risk through a variety of mechanisms. Understanding the pathophysiological mechanisms of these conditions can provide insights into effective management strategies for neurological complications. This review describes clinical management of neurological complications in CKD with reference to the contributing physiological and pathological derangements. Stroke, cognitive dysfunction and dementia share several pathological mechanisms that may contribute to vascular impairment and neurodegeneration. Cognitive dysfunction and dementia may be differentiated from encephalopathy which has similar contributing factors but presents in an acute and rapidly progressive manner and may be accompanied by tremor and asterixis. Recent evidence suggests that dietary potassium restriction may be a useful preventative measure for peripheral neuropathy. Management of painful neuropathic symptoms can be achieved by pharmacological means with careful dosing and side effect considerations for reduced renal function. Patients with autonomic neuropathy may respond to sildenafil for impotence. Neurological complications often become clinically apparent at end-stage disease, however early detection and management of these conditions in mild CKD may reduce their impact at later stages.

  3. Dengue: a new challenge for neurology

    Directory of Open Access Journals (Sweden)

    Marzia Puccioni-Sohler


    Full Text Available Dengue infection is a leading cause of illness and death in tropical and subtropical regions of the world. Forty percent of the world’s population currently lives in these areas. The clinical picture resulting from dengue infection can range from relatively minor to catastrophic hemorrhagic fever. Recently, reports have increased of neurological manifestations. Neuropathogenesis seems to be related to direct nervous system viral invasion, autoimmune reaction, metabolic and hemorrhagic disturbance. Neurological manifestations include encephalitis, encephalopathy, meningitis, Guillain-Barré syndrome, myelitis, acute disseminated encephalomyelitis, polyneuropathy, mononeuropathy, and cerebromeningeal hemorrhage. The development of neurological symptoms in patients with positive Immunoglobulin M (IgM dengue serology suggests a means of diagnosing the neurological complications associated with dengue. Viral antigens, specific IgM antibodies, and the intrathecal synthesis of dengue antibodies have been successfully detected in cerebrospinal fluid. However, despite diagnostic advancements, the treatment of neurological dengue is problematic. The launch of a dengue vaccine is expected to be beneficial.

  4. Problem neurology residents: a national survey. (United States)

    Tabby, David S; Majeed, Muhammed H; Schwartzman, Robert J


    Problem residents are found across most medical specialties at a prevalence of about 10%. This study was designed to explore the prevalence and causes of problem neurology residents and to compare neurology programs' responses and outcomes. Directors of 126 US neurology residency programs were sent an electronic survey. We collected data on demographics, first and all "identifiers" of problem residents, and year of training in which the problem was found. We asked about observable signs, etiology, and who performed remediation. We asked what resources were used and what outcomes occurred. Ninety-five program directors completed surveys (75% response rate). Almost all neurology programs have problem residents (81%). Age, sex, marital status, being a US native, or attending a US medical school had no effect on problem status. Being a parent carried a lower likelihood of problems (32%). Most commonly the problem is acted on during the first year of training. Faculty members without defined educational roles were the most frequent first identifiers. Program directors were the most common remediators. The most common remediation techniques were increasing supervision and assigning a faculty mentor. Graduate medical education office and psychiatric or psychological counseling services were most often used. Eleven percent of problem residents required a program for impaired physicians and 14% required a leave of absence. Sixteen percent were dismissed from their programs. The prevalence of problem residents in neurology is similar to other disciplines, and various resources are available to remediate them.

  5. Resistance training in patients with limb-girdle and becker muscular dystrophies

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Andersen, Søren P; Ingelsrud, Lina H


    In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD).......In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD)....

  6. Protective mechanisms of muscular dystrophy : proteomic study and pharmacological therapy


    Cintia Yuri Matsumura


    Resumo: Na Distrofia Muscular de Duchene (DMD) e em seu modelo experimental, camundongos mdx, a ausência ou disfunção da proteína distrofina leva a degeneração muscular. Acredita-se que a patogênese da DMD esteja relacionada à fragilidade do sarcolema, ao estresse mecânico e ao maior influxo de íons cálcio na fibra muscular resultante do funcionamento anormal de canais iônicos, como os canais de cálcio ativados por estiramento. O conhecimento das proteínas envolvidas na degeneração/regeneraçã...

  7. MR imaging of fukuyama congenital muscular dystrophy; a case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk [Ewha Womans Univ. College of Medicine, Seoul (Korea, Republic of)


    Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.

  8. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy. (United States)

    Wein, Nicolas; Alfano, Lindsay; Flanigan, Kevin M


    Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Electrical impedance myography for assessment of Duchenne muscular dystrophy. (United States)

    Rutkove, Seward B; Kapur, Kush; Zaidman, Craig M; Wu, Jim S; Pasternak, Amy; Madabusi, Lavanya; Yim, Sung; Pacheck, Adam; Szelag, Heather; Harrington, Tim; Darras, Basil T


    Sensitive, objective, and easily applied methods for evaluating disease progression and response to therapy are needed for clinical trials in Duchenne muscular dystrophy (DMD). In this study, we evaluated whether electrical impedance myography (EIM) could serve this purpose. In this nonblinded study, 36 boys with DMD and 29 age-similar healthy boys underwent multifrequency EIM measurements for up to 2 years on 6 muscles unilaterally along with functional assessments. A linear mixed-effects model with random intercept and slope terms was used for the analysis of multifrequency EIM values and functional measures. Seven DMD boys were initiated on corticosteroids; these data were analyzed using a piecewise linear mixed-effects model. In boys > 7.0 years old, a significant difference in the slope of EIM phase ratio trajectories in the upper extremity was observed by 6 months of -0.074/month, p = 0.023, 95% confidence interval (CI) = -0.013, -0.14; at 2 years, this difference was -0.048/month, p < 0.0001, 95% CI = -0.028, -0.068. In boys ≤ 7.0 years old, differences appeared at 6 months in gastrocnemius (EIM phase slope = -0.83 °/kHz/mo, p = 0.007, 95% CI = -0.26, -1.40). EIM outcomes showed significant differences earlier than functional tests. Initiation of corticosteroids significantly improved the slope of EIM phase ratio (0.057/mo, p = 0.00019, 95% CI = 0.028, 0.086) and EIM phase slope (0.14 °/kHz/mo, p = 0.013, 95% CI = 0.028, 0.25), consistent with corticosteroids' known clinical benefit. EIM detects deterioration in muscles of both younger and older boys by 6 months; it also identifies the therapeutic effect of corticosteroid initiation. Because EIM is rapid to apply, painless, and requires minimal operator training, the technique deserves to be further evaluated as a biomarker in DMD clinical therapeutic trials. Ann Neurol 2017;81:622-632. © 2017 American Neurological Association.

  10. Nonlocal neurology: beyond localization to holonomy. (United States)

    Globus, G G; O'Carroll, C P


    The concept of local pathology has long served neurology admirably. Relevant models include self-organizing nonlinear brain dynamics, global workspace and dynamic core theories. However such models are inconsistent with certain clinical phenomena found in Charles Bonnet syndrome, disjunctive agnosia and schizophrenia, where there is disunity of content within the unity of consciousness. This is contrasted with the split-brain case where there is disunity of content and disunity of consciousnesses. The development of quantum brain theory with it nonlocal mechanisms under the law of the whole ("holonomy") offers new possibilities for explaining disintegration within unity. Dissipative quantum brain dynamics and its approach to the binding problem, memory and consciousness are presented. A nonlocal neurology armed with a holonomic understanding might see more deeply into what clinical neurology has always aspired to: the patient as a whole. Copyright © 2010 Elsevier Ltd. All rights reserved.

  11. The History of Reimbursements in Neurology

    Directory of Open Access Journals (Sweden)

    Shaheen E Lakhan


    Full Text Available The Patient Protection and Affordable Care Act (PPACA addresses consumer protection, employer-provided insurance coverage, as well as the government's role in providing health care access to the most vulnerable populations. Within the practice of neurology, the PPACA has the challenging goal of reconciling the needs of the growing elderly population with the financial barriers to costly yet available health care services. To bridge that gap, all health care professionals working in the field of neurology must reflect on the effect previous Medicare reimbursement policies have had on the current practice of neurology, and utilize lessons learned in recent years. The test of time will tell whether the PPACA will achieve the goal of decreasing in health care spending while ensuring quality universal healthcare services.

  12. Cotard syndrome in neurological and psychiatric patients. (United States)

    Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis C; Crail-Melendez, Daniel; Espinola-Nadurille, Mariana; Nente, Francisco; Mendez, Mario F


    The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had viral encephalitis and Cotard syndrome. Of inpatients, 36.2% had pure psychiatric disorders and three (0.62%) had Cotard syndrome, associated with psychotic depression, depersonalization, and penile retraction (koro syndrome). This review discusses potential mechanisms for Cotard syndrome, including the role of a perceptual-emotional dissociation in self-misattribution in the deliré des negations.

  13. Emergency Neurologic Life Support: Meningitis and Encephalitis. (United States)

    Gaieski, David F; Nathan, Barnett R; O'Brien, Nicole F


    Bacterial meningitis and viral encephalitis, particularly herpes simplex encephalitis, are severe neurological infections that, if not treated promptly and effectively, lead to poor neurological outcome or death. Because treatment is more effective if given early, the topic of meningitis and encephalitis was chosen as an Emergency Neurological Life Support protocol. This protocol provides a practical approach to recognition and urgent treatment of bacterial meningitis and encephalitis. Appropriate imaging, spinal fluid analysis, and early empiric treatment is discussed. Though uncommon in its full form, the typical clinical triad of headache, fever, and neck stiffness should alert the clinical practitioner to the possibility of a central nervous system infection. Early attention to the airway and maintaining normotension is crucial in treatment of these patients, as is rapid treatment with anti-infectives and, in some cases, corticosteroids.

  14. Perinatal pharmacology: applications for neonatal neurology. (United States)

    Smits, Anne; Allegaert, Karel


    The principles of clinical pharmacology also apply to neonates, but their characteristics warrant a tailored approach. We focus on aspects of both developmental pharmacokinetics (concentration/time relationship) and developmental pharmacodynamics (concentration/effect relationship) in neonates. We hereby aimed to link concepts used in clinical pharmacology with compound-specific observations (anti-epileptics, analgosedatives) in the field of neonatal neurology. Although in part anecdotal, we subsequently illustrate the relevance of developmental pharmacology in the field of neonatal neurology by a specific intervention (e.g. whole body cooling), specific clinical presentations (e.g. short and long term outcome following fetal exposure to antidepressive agents, the development of new biomarkers for fetal alcohol syndrome) and specific clinical needs (e.g. analgosedation in neonates, excitocytosis versus neuro-apoptosis/impaired synaptogenesis). Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  15. A national neurological excellence centers network. (United States)

    Pazzi, S; Cristiani, P; Cavallini, A


    The most relevant problems related to the management of neurological disorders are (i) the frequent hospitalization in nonspecialist departments, with the need for neurological consultation, and (ii) the frequent requests of GPs for highly specialized investigations that are very expensive and of little value in arriving at a correct diagnosis. In 1996, the Consorzio di Bioingegneria e Informatica Medica in Italy realized the CISNet project (in collaboration with the Consorzio Istituti Scientifici Neuroscienze e Tecnologie Biomediche and funded by the Centro Studi of the National Public Health Council) for the implementation of a national neurological excellence centers network (CISNet). In the CISNet project, neurologists will be able to give on-line interactive consultation and off-line consulting services identifying correct diagnostic/therapeutic procedures, evaluating the need for both examination in specialist centers and admission to specialized centers, and identifying the most appropriate ones.

  16. What is the essential neurological examination?

    Directory of Open Access Journals (Sweden)

    Marco A. Lima


    Full Text Available In order to determine which aspects would be essential to the neurological examination (NE in a given specific situation (a patient referred with a potential neurological complaint, but the history suggests that a neurological problem is unlikely, we presented the same questionnaire used by Moore and Chalk in Canada to 19 neurologists in Rio de Janeiro, Brazil. We considered significant aspects of NE, whose average responses were greater than or equal to 3.5: visual fields, fundoscopy, pursuit eye movements, facial muscle power testing, gait, pronator drift or rapid arm movement in upper limbs, finger-nose, tone in arms and legs, five tendon reflexes, and plantar responses. We concluded that, despite geographical and economical differences between Brazil and Canada, neurologists from both countries agree about the essential NE in the proposed scenario.

  17. Fulminant musculoskeletal and neurologic sarcoidosis: case report and literature update

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    Sweeney, Ashley; Hammer, Richard; Evenski, Andrea; Crim, Julia [University of Missouri at Columbia, Columbia, MO (United States)


    We report a case of fulminant sarcoidosis in a 28-year-old man presenting with skin nodules, multifocal small and large joint arthralgias, and blurred vision. Characteristic bone, soft tissue, articular, and CNS findings were evident on multimodality imaging. Bony abnormalities included near-complete destruction of a distal phalanx, ''lace-like'' lucent lesions, erosive arthritis, lytic lesions with and without sclerotic margins, and bone marrow replacement visible only on MRI. The extent of bony disease at time of presentation was unusual. We review the widely varying reported prevalence of imaging findings of bony sarcoidosis in the literature, and discuss reasons for this variability. We found that musculoskeletal findings at US and MRI were less specific than radiographic and CT findings, but were useful in quantifying extent of disease. (orig.)

  18. Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog. (United States)

    Jenkins, Christopher A; Forman, Oliver P


    A Norfolk terrier was referred to the Animal Health Trust neurology department with suspected dystrophin-deficient muscular dystrophy (DD-MD), which was confirmed by clinical workup and immunohistochemistry. Exon resequencing of the canine Duchenne Muscular Dystrophy (DMD) gene was undertaken to screen for potential disease causing mutations. The sequence data generated from all coding DMD exons revealed a 1 bp deletion in exon 22, causing a frameshift and premature termination of the coding sequence. Gene expression analysis indicated reduced levels of dystrophin transcript in the DD-MD case and western blot confirmed the absence of full length protein. The finding represents a novel mutation causing DD-MD in the dog.

  19. Autoimmune Neurology of the Central Nervous System. (United States)

    Tobin, W Oliver; Pittock, Sean J


    This article reviews the rapidly evolving spectrum of autoimmune neurologic disorders with a focus on those that involve the central nervous system, providing an understanding of how to approach the diagnostic workup of patients presenting with central nervous system symptoms or signs that could be immune mediated, either paraneoplastic or idiopathic, to guide therapeutic decision making. The past decade has seen a dramatic increase in the discovery of novel neural antibodies and their targets. Many commercial laboratories can now test for these antibodies, which serve as diagnostic markers of diverse neurologic disorders that occur on an autoimmune basis. Some are highly specific for certain cancer types, and the neural antibody profiles may help direct the physician's cancer search. The diagnosis of an autoimmune neurologic disorder is aided by the detection of an objective neurologic deficit (usually subacute in onset with a fluctuating course), the presence of a neural autoantibody, and improvement in the neurologic status after a course of immunotherapy. Neural autoantibodies should raise concern for a paraneoplastic etiology and may inform a targeted oncologic evaluation (eg, N-methyl-D-aspartate [NMDA] receptor antibodies are associated with teratoma, antineuronal nuclear antibody type 1 [ANNA-1, or anti-Hu] are associated with small cell lung cancer). MRI, EEG, functional imaging, videotaped evaluations, and neuropsychological evaluations provide objective evidence of neurologic dysfunction by which the success of immunotherapy may be measured. Most treatment information emanates from retrospective case series and expert opinion. Nonetheless, early intervention may allow reversal of deficits in many patients and prevention of future disability.

  20. Anti-inflammatory drugs for Duchenne muscular dystrophy: focus on skeletal muscle-releasing factors

    Directory of Open Access Journals (Sweden)

    Miyatake S


    Full Text Available Shouta Miyatake,1 Yuko Shimizu-Motohashi,2 Shin’ichi Takeda,1 Yoshitsugu Aoki1 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; 2Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan Abstract: Duchenne muscular dystrophy (DMD, an incurable and a progressive muscle wasting disease, is caused by the absence of dystrophin protein, leading to recurrent muscle fiber damage during contraction. The inflammatory response to fiber damage is a compelling candidate mechanism for disease exacerbation. The only established pharmacological treatment for DMD is corticosteroids to suppress muscle inflammation, however this treatment is limited by its insufficient therapeutic efficacy and considerable side effects. Recent reports show the therapeutic potential of inhibiting or enhancing pro- or anti-inflammatory factors released from DMD skeletal muscles, resulting in significant recovery from muscle atrophy and dysfunction. We discuss and review the recent findings of DMD inflammation and opportunities for drug development targeting specific releasing factors from skeletal muscles. It has been speculated that nonsteroidal anti-inflammatory drugs targeting specific inflammatory factors are more effective and have less side effects for DMD compared with steroidal drugs. For example, calcium channels, reactive oxygen species, and nuclear factor-κB signaling factors are the most promising targets as master regulators of inflammatory response in DMD skeletal muscles. If they are combined with an oligonucleotide-based exon skipping therapy to restore dystrophin expression, the anti-inflammatory drug therapies may address the present therapeutic limitation of low efficiency for DMD. Keywords: calcium channels, ryanodine receptor 1, exon skipping, NF-κB, myokine, ROS

  1. Golden Retriever Muscular Dystrophy (GRMD) como modelo morfofuncional da reparação tecidual na Distrofia Muscular de Duchenne


    Thaís Peixoto Gaiad Machado


    A fisioterapia motora vem sendo empregada como terapia de suporte para as distrofias musculares, porém, seu efeito no músculo distrófico e na função motora global precisa ser melhor compreendida para direcionar os tratamentos. Esta pesquisa objetiva elucidar o papel da fisioterapia motora na deposição de colágeno muscular, bem como em alguns parâmetros cinemáticos e dinâmicos da marcha do modelo Golden Retriever Muscular Dystrophy (GRMD). Fragmentos do músculo bíceps femoralis foram coletados...

  2. Management of male neurologic patients with infertility

    DEFF Research Database (Denmark)

    Fode, Mikkel; Sønksen, Jens


    Many aspects of fertility rely on intact neurologic function and thus neurologic diseases can result in infertility. While research into general female fertility and alterations in male semen quality is limited, we have an abundance of knowledge regarding ejaculatory dysfunction following nerve i...... the testis. Once viable sperm cells have been obtained, these are used in assisted reproductive techniques, including intravaginal insemination, intrauterine insemination, and in vitro fertilization/intracytoplasmic sperm injection....... of treatment is assisted ejaculation, preferably by penile vibratory stimulation. If vibratory stimulation is unsuccessful, then ejaculation can almost always be induced by electroejaculation. In cases where assisted ejaculation fails, sperm can be retrieved surgically from either the epididymis or from...

  3. Stem-cell therapy for neurologic diseases

    Directory of Open Access Journals (Sweden)

    Shilpa Sharma


    Full Text Available With the advent of research on stem cell therapy for various diseases, an important need was felt in the field of neurological diseases. While congenital lesion may not be amenable to stem cell therapy completely, there is a scope of partial improvement in the lesions and halt in further progression. Neuro degenerative lesions like Parkinson′s disease, multiple sclerosis and amyotrophic lateral sclerosis have shown improvement with stem cell therapy. This article reviews the available literature and summarizes the current evidence in the various neurologic diseases amenable to stem cell therapy, the plausible mechanism of action, ethical concerns with insights into the future of stem cell therapy.

  4. Advance care planning in progressive neurological conditions. (United States)

    Kent, Anna


    Advance care planning in progressive neurological conditions is an essential part of care, allowing individuals to make decisions and record their wishes regarding the care they receive in the future. Nurses are ideally placed to become involved in this process and should understand how they can assist patients, carers and families through a dynamic process of consultation and discussion. This article considers the process of advance care planning in relation to progressive neurological conditions and discusses how the Mental Capacity Act 2005 provides the legislation within which professionals must work.

  5. Pilot Data Bank Networks for Neurological Disorders (United States)

    Kunitz, Selma C.; Havekost, Charles L.; Gross, Cynthia R.


    National pilot data bank networks for stroke and traumatic coma have recently been initiated at multiple centers by the National Institute of Neurological and Communicative Disorders and Stroke. The characteristics of these pilot data bank projects include: 1) the overall development and statement of research issues by a multidisciplinary team; 2) dual emphasis on patient management and clinical research; 3) the definition and use of a uniform clinical vocabulary; 4) the use of a clinically-oriented data base management system; and 5) the use of intelligent terminals for data entry, retrieval, and patient management. This paper will describe the data bank approach used by the neurological disorders programs.

  6. Acupuncture for Small Animal Neurologic Disorders. (United States)

    Roynard, Patrick; Frank, Lauren; Xie, Huisheng; Fowler, Margaret


    Modern research on traditional Chinese veterinary medicine (TCVM), including herbal medicine and acupuncture, has made evident the role of the nervous system as a cornerstone in many of the mechanisms of action of TCVM. Laboratory models and clinical research available are supportive for the use of TCVM in the management of neurologic conditions in small animals, specifically in cases of intervertebral disk disease, other myelopathies, and painful conditions. This article is meant to help guide the use of TCVM for neurologic disorders in small animals, based on available information and recommendations from experienced TCVM practitioners. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Avoiding Misdiagnosis in Patients with Neurological Emergencies (United States)

    Pope, Jennifer V.; Edlow, Jonathan A.


    Approximately 5% of patients presenting to emergency departments have neurological symptoms. The most common symptoms or diagnoses include headache, dizziness, back pain, weakness, and seizure disorder. Little is known about the actual misdiagnosis of these patients, which can have disastrous consequences for both the patients and the physicians. This paper reviews the existing literature about the misdiagnosis of neurological emergencies and analyzes the reason behind the misdiagnosis by specific presenting complaint. Our goal is to help emergency physicians and other providers reduce diagnostic error, understand how these errors are made, and improve patient care. PMID:22888439

  8. Neurologic uses of botulinum neurotoxin type A

    Directory of Open Access Journals (Sweden)

    John P Ney


    Full Text Available John P Ney, Kevin R JosephMadigan Army Medical Center, Neurology Service, Tacoma, WA, USAAbstract: This article reviews the current and most neurologic uses of botulinum neurotoxin type A (BoNT-A, beginning with relevant historical data, neurochemical mechanism at the neuromuscular junction. Current commercial preparations of BoNT-A are reviewed, as are immunologic issues relating to secondary failure of BoNT-A therapy. Clinical uses are summarized with an emphasis on controlled clinical trials (as appropriate, including facial movement disorders, focal neck and limb dystonias, spasticity, hypersecretory syndromes, and pain.Keywords: botulinum neurotoxins, BOTOX®, Dysport®, chemodenervation

  9. How to write a neurology case report. (United States)

    Rison, Richard A


    Neurology case reports have a long history of transmitting important medical information across many generations for the improvement of patient care. Case reports contribute much to the physician's knowledge base from which treatment hypotheses and ideas form. Elements of a modern case report, as presented in the CARE (CAse REport) guidelines, include the abstract, introduction, case presentation, discussion, conclusion, patient's perspective, and consent statement. The sections are described here, as well as the application of CARE guidelines to a published neuromuscular case report. Writing case reports offer an ideal opportunity for neurologists to publish interesting case findings and carry on the tradition of neurologic case reporting.

  10. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy

    NARCIS (Netherlands)

    Visser, J.; van den Berg-Vos, R. M.; Franssen, H.; van den Berg, L. H.; Vogels, O. J.; Wokke, J. H. J.; de Jong, J. M. B. V.; de Visser, M.


    Described are patients initially diagnosed with progressive spinal muscular atrophy (PSMA), in whom further evaluation established another diagnosis. The authors prospectively investigated incident and prevalent cases of PSMA. Seventeen of 89 patients, after initial registration, were later excluded

  11. Mothers' psychological adaptation to Duchenne/Becker muscular dystrophy

    National Research Council Canada - National Science Library

    Peay, Holly L; Meiser, Bettina; Kinnett, Kathleen; Furlong, Pat; Porter, Kathryn; Tibben, Aad


    Duchenne and Becker muscular dystrophy (DBMD) cause significant emotional and care-related burden on caregivers, but no studies have evaluated predictors of positive caregiver outcomes, including disorder-specific psychological adaptation...

  12. Nonmuscular involvement in merosin-negative congenital muscular dystrophy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Donkelaar, H.J. ten; Tanke, R.B.; Vingerhoets, D.M.; Zwarts, M.J.; Verrips, A.; Gabreëls, F.J.M.


    The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal

  13. Perspectives on Clinical Trials in Spinal Muscular Atrophy (United States)

    Swoboda, Kathryn J.; Kissel, John T.; Crawford, Thomas O.; Bromberg, Mark B.; Acsadi, Gyula; D'Anjou, Guy; Krosschell, Kristin J.; Reyna, Sandra P.; Schroth, Mary K.; Scott, Charles B.; Simard, Louise R.


    Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (type 1), intermediate (type 2), and mild (type 3) subtypes has proved useful both in enhancing communication among clinicians internationally and in forging the collaborative development of outcome measures for clinical trials. Ideally, clinical trial design in spinal muscular atrophy must take into account the spinal muscular atrophy type, patient age, severity-of-affection status, nature of the therapeutic approach, timing of the proposed intervention relative to disease progression, and relative homogeneity of the cohort to be studied. Following is an overview of the challenges and opportunities, current and future therapeutic strategies, and progress to date in clinical trials in spinal muscular atrophy. PMID:17761650

  14. Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

    DEFF Research Database (Denmark)

    Witting, N; Mensah, A; Køber, L


    OBJECTIVES: To assess skeletal muscle weakness and progression as well as the cardiopulmonary involvement in oculopharyngeal muscular dystrophy (OPMD). MATERIALS AND METHODS: Cross-sectional study including symptomatic patients with genetically confirmed OPMD. Patients were assessed by medical...

  15. Strength training and albuterol in facioscapulohumeral muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, EL; Vogels, OJM; van Asseldonk, RJGP; Lindeman, E; Hendriks, JCM; Wohlgemuth, M; van der Maarel, SM; Padberg, GW


    Background: In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of

  16. Strength training and albuterol in facioscapulohumeral muscular dystrophy.

    NARCIS (Netherlands)

    Kooi, E.L. van der; Vogels, O.J.M.; Asseldonk, R.J. van; Lindeman, E.J.M.; Hendriks, J.C.M.; Wohlgemuth, M.; Maarel, S.M. van der; Padberg, G.W.A.M.


    BACKGROUND: In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of

  17. Central nervous system involvement in progressive muscular dystrophy. (United States)

    Yoshioka, M; Okuno, T; Honda, Y; Nakano, Y


    Several abnormalities in the central nervous system were shown in patients with progressive muscular dystrophy using computerised tomography (CT) scans, electroencephalograms, psychometry, and ophthalmological methods. In congenital muscular dystrophy, the most characteristic finding in the CT scan was a low density area in the white matter, seen in 14 (56%) out of 25 cases. In Duchenne dystrophy, slight cerebral atrophy was observed in 20 (67%) out of 30 cases. It was interesting that in the case of Duchenne dystrophy the older the patient, the more severe were the CT findings. In congenital muscular dystrophy half the patients with a low density area showed a spike or a spike-and-wave complex in the electroencephalogram, and optic atrophy was evident in several cases. It is concluded that progressive muscular dystrophy is not only a myogenic disorder but also one which affects the central nervous system. Images Fig. 1 Fig. 2 PMID:7436514

  18. Predictive factors for masticatory performance in Duchenne muscular dystrophy

    NARCIS (Netherlands)

    Bruggen, H.W. van; Engel-Hoek, L. van den; Steenks, M.H.; Bronkhorst, E.M.; Creugers, N.H.; Groot, I.J.M. de; Kalaykova, S.


    Patients with Duchenne muscular dystrophy (DMD) report masticatory and swallowing problems. Such problems may cause complications such as choking, and feeling of food sticking in the throat. We investigated whether masticatory performance in DMD is objectively impaired, and explored predictive

  19. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, Edo M.; Ginjaar, Ieke B.; Bakker, Egbert; de Visser, Marianne


    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in

  20. Perspectives of stem cell therapy in Duchenne muscular dystrophy. (United States)

    Meregalli, Mirella; Farini, Andrea; Belicchi, Marzia; Parolini, Daniele; Cassinelli, Letizia; Razini, Paola; Sitzia, Clementina; Torrente, Yvan


    Muscular dystrophies are heritable and heterogeneous neuromuscular disorders characterized by the primary wasting of skeletal muscle, usually caused by mutations in the proteins forming the link between the cytoskeleton and the basal lamina. As a result of mutations in the dystrophin gene, Duchenne muscular dystrophy patients suffer from progressive muscle atrophy and an exhaustion of muscular regenerative capacity. No efficient therapies are available. The evidence that adult stem cells were capable of participating in the regeneration of more than their resident organ led to the development of potential stem cell treatments for degenerative disorder. In the present review, we describe the different types of myogenic stem cells and their possible use for the progression of cell therapy in Duchenne muscular dystrophy. © 2012 The Authors Journal compilation © 2012 FEBS.