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Sample records for human degenerative disorders

  1. Degenerative disorders of the spine

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    Gallucci, Massimo; Puglielli, Edoardo; Splendiani, Alessandra [University of L' Aquila, Department of Radiology, L' Aquila (Italy); Pistoia, Francesca; Spacca, Giorgio [S. Salvatore Hospital, Department of Neuroscience, L' Aquila (Italy)

    2005-03-01

    Patients with back pain and degenerative disorders of the spine have a significant impact on health care costs. Some authors estimate that up to 80% of all adults experience back pain at some point in their lives. Disk herniation represents one of the most frequent causes. Nevertheless, other degenerative diseases have to be considered. In this paper, pathology and imaging of degenerative spine diseases will be discussed, starting from pathophysiology of normal age-related changes of the intervertebral disk and vertebral body. (orig.)

  2. Degenerative disorders of the spine

    International Nuclear Information System (INIS)

    Gallucci, Massimo; Puglielli, Edoardo; Splendiani, Alessandra; Pistoia, Francesca; Spacca, Giorgio

    2005-01-01

    Patients with back pain and degenerative disorders of the spine have a significant impact on health care costs. Some authors estimate that up to 80% of all adults experience back pain at some point in their lives. Disk herniation represents one of the most frequent causes. Nevertheless, other degenerative diseases have to be considered. In this paper, pathology and imaging of degenerative spine diseases will be discussed, starting from pathophysiology of normal age-related changes of the intervertebral disk and vertebral body. (orig.)

  3. Physiochemical basis of human degenerative disease.

    Science.gov (United States)

    Zeliger, Harold I; Lipinski, Boguslaw

    2015-03-01

    The onset of human degenerative diseases in humans, including type 2 diabetes, cardiovascular disease, neurological disorders, neurodevelopmental disease and neurodegenerative disease has been shown to be related to exposures to persistent organic pollutants, including polychlorinated biphenyls, chlorinated pesticides, polybrominated diphenyl ethers and others, as well as to polynuclear aromatic hydrocarbons, phthalates, bisphenol-A and other aromatic lipophilic species. The onset of these diseases has also been related to exposures to transition metal ions. A physiochemical mechanism for the onset of degenerative environmental disease dependent upon exposure to a combination of lipophilic aromatic hydrocarbons and transition metal ions is proposed here. The findings reported here also, for the first time, explain why aromatic hydrocarbons exhibit greater toxicity than aliphatic hydrocarbons of equal carbon numbers.

  4. Physiochemical basis of human degenerative disease

    Directory of Open Access Journals (Sweden)

    Zeliger Harold I.

    2015-03-01

    Full Text Available The onset of human degenerative diseases in humans, including type 2 diabetes, cardiovascular disease, neurological disorders, neurodevelopmental disease and neurodegenerative disease has been shown to be related to exposures to persistent organic pollutants, including polychlorinated biphenyls, chlorinated pesticides, polybrominated diphenyl ethers and others, as well as to polynuclear aromatic hydrocarbons, phthalates, bisphenol-A and other aromatic lipophilic species. The onset of these diseases has also been related to exposures to transition metal ions. A physiochemical mechanism for the onset of degenerative environmental disease dependent upon exposure to a combination of lipophilic aromatic hydrocarbons and transition metal ions is proposed here. The findings reported here also, for the first time, explain why aromatic hydrocarbons exhibit greater toxicity than aliphatic hydrocarbons of equal carbon numbers.

  5. Degenerative spine disorders in the context of clinical findings

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    Freund, Michael [Institut fuer Radiologie und Neuroradiologie, Klinikum Aschaffenburg, Am Hasenkopf 1, 63739 Aschaffenburg (Germany) and Abteilung fuer Neuroradiologie, Universitaetsklinikum Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg (Germany)]. E-mail: michael.freund@klinikum-aschaffenburg.de; Sartor, Klaus [Abteilung fuer Neuroradiologie, Universitaetsklinikum Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg (Germany)

    2006-04-15

    Hardly any other structure in the human body is held responsible for so many complaints, pain, and costs as the spine and its degenerative disorders. In the following article, the role of imaging procedures in diagnosing disorders of the spine is presented. Due to the fact that disk herniation represents the most frequent cause for degenerative disorders the anatomy of the intervertebral disk and the pathology of the entities that can cause diseases of the disks are described. In particular, the authors focus on the significance of radiological findings with respect to patient history, subjective symptoms, and objective clinical findings. In addition to presenting the technical procedures and their indications and contraindications also practical tips and tricks in conducting these examinations are presented in this paper.

  6. Degenerative spine disorders in the context of clinical findings

    International Nuclear Information System (INIS)

    Freund, Michael; Sartor, Klaus

    2006-01-01

    Hardly any other structure in the human body is held responsible for so many complaints, pain, and costs as the spine and its degenerative disorders. In the following article, the role of imaging procedures in diagnosing disorders of the spine is presented. Due to the fact that disk herniation represents the most frequent cause for degenerative disorders the anatomy of the intervertebral disk and the pathology of the entities that can cause diseases of the disks are described. In particular, the authors focus on the significance of radiological findings with respect to patient history, subjective symptoms, and objective clinical findings. In addition to presenting the technical procedures and their indications and contraindications also practical tips and tricks in conducting these examinations are presented in this paper

  7. [Schizophrenia: neurodevelopmental disorder or degenerative brain process?].

    Science.gov (United States)

    Gross, G; Huber, G

    2008-05-01

    In the last two decades schizophrenia is viewed increasingly as a neurodevelopmental (ND) disorder; as indicators are discussed f.e. premorbid personality, behaviour anomalies, premorbid somatic signs, deviations shown by brain imaging methods, neuropathological findings or neuropsychological deficits. Premorbid personality and behaviour anomalies have to be distinguished from precursor syndromes (prodromes and outpost syndromes), preceding the first psychotic episode many years. Moreover, only a minority of patients, later developing schizophrenia, reveal abnormal premorbid personality traits. Explanations why clinical expression of the disorder is delayed until adult life or at least adolescence, remain speculative. Findings of neocortical and limbic maldevelopment, e.g. in parahippocampal cortex, are hitherto not yet conclusive. As an argument for the ND hypothesis is claimed that ventricular enlargement already is present at the onset of positive symptoms and does not progress on follow-ups. But, if a ND disorder would have caused the ventricular enlargement, cranial volume and head size must be decreased, what is not the case in schizophrenia. Furtheron, there are findings of progressive increase in ventricular size and also of gliosis, especially in subcortical and periventricular areas. Anomalies of cerebral asymmetry; also distinct ND brain anomalies such as cavum septi pellucidi or dysgenesis of corpus callosum do not occur more frequently than expected in schizophrenia. As to the rate of obstetric complications (OCs) and viral infections sufficiently reliable data are missing; the great majority of schizophrenics have no OCs. Altogether, attempts to correlate brain findings, regarded as expression of an aberrant brain development with clinical subgroups of schizophrenia, were not very successful. This is also valid for ND concepts confined to male, early onset or sporadic schizophrenias. Only a distinct psychopathological remission type with the component

  8. Connecting Malfunctioning Glial Cells and Brain Degenerative Disorders.

    Science.gov (United States)

    Kaminsky, Natalie; Bihari, Ofer; Kanner, Sivan; Barzilai, Ari

    2016-06-01

    The DNA damage response (DDR) is a complex biological system activated by different types of DNA damage. Mutations in certain components of the DDR machinery can lead to genomic instability disorders that culminate in tissue degeneration, premature aging, and various types of cancers. Intriguingly, malfunctioning DDR plays a role in the etiology of late onset brain degenerative disorders such as Parkinson's, Alzheimer's, and Huntington's diseases. For many years, brain degenerative disorders were thought to result from aberrant neural death. Here we discuss the evidence that supports our novel hypothesis that brain degenerative diseases involve dysfunction of glial cells (astrocytes, microglia, and oligodendrocytes). Impairment in the functionality of glial cells results in pathological neuro-glial interactions that, in turn, generate a "hostile" environment that impairs the functionality of neuronal cells. These events can lead to systematic neural demise on a scale that appears to be proportional to the severity of the neurological deficit. Copyright © 2016 The Authors. Production and hosting by Elsevier Ltd.. All rights reserved.

  9. Connecting Malfunctioning Glial Cells and Brain Degenerative Disorders

    Directory of Open Access Journals (Sweden)

    Natalie Kaminsky

    2016-06-01

    Full Text Available The DNA damage response (DDR is a complex biological system activated by different types of DNA damage. Mutations in certain components of the DDR machinery can lead to genomic instability disorders that culminate in tissue degeneration, premature aging, and various types of cancers. Intriguingly, malfunctioning DDR plays a role in the etiology of late onset brain degenerative disorders such as Parkinson’s, Alzheimer’s, and Huntington’s diseases. For many years, brain degenerative disorders were thought to result from aberrant neural death. Here we discuss the evidence that supports our novel hypothesis that brain degenerative diseases involve dysfunction of glial cells (astrocytes, microglia, and oligodendrocytes. Impairment in the functionality of glial cells results in pathological neuro-glial interactions that, in turn, generate a “hostile” environment that impairs the functionality of neuronal cells. These events can lead to systematic neural demise on a scale that appears to be proportional to the severity of the neurological deficit.

  10. A Heme Oxygenase-1 Transducer Model of Degenerative and Developmental Brain Disorders

    Directory of Open Access Journals (Sweden)

    Hyman M. Schipper

    2015-03-01

    Full Text Available Heme oxygenase-1 (HO-1 is a 32 kDa protein which catalyzes the breakdown of heme to free iron, carbon monoxide and biliverdin. The Hmox1 promoter contains numerous consensus sequences that render the gene exquisitely sensitive to induction by diverse pro-oxidant and inflammatory stimuli. In “stressed” astroglia, HO-1 hyperactivity promotes mitochondrial iron sequestration and macroautophagy and may thereby contribute to the pathological iron deposition and bioenergetic failure documented in Alzheimer disease, Parkinson disease and certain neurodevelopmental conditions. Glial HO-1 expression may also impact neuroplasticity and cell survival by modulating brain sterol metabolism and the proteasomal degradation of neurotoxic proteins. The glial HO-1 response may represent a pivotal transducer of noxious environmental and endogenous stressors into patterns of neural damage and repair characteristic of many human degenerative and developmental CNS disorders.

  11. DEGRO guidelines for the radiotherapy of non-malignant disorders. Part II: Painful degenerative skeletal disorders

    International Nuclear Information System (INIS)

    Ott, Oliver J.; Niewald, Marcus; Weitmann, Hajo-Dirk; Jacob, Ingrid; Adamietz, Irenaeus A.; Schaefer, Ulrich; Keilholz, Ludwig; Heyd, Reinhard; Muecke, Ralph

    2015-01-01

    The purpose of this article is to summarize the updated DEGRO consensus S2e guideline recommendations for the treatment of benign painful degenerative skeletal disorders with low-dose radiotherapy. This overview reports on the role of low-dose radiotherapy in the treatment of enthesiopathies (shoulder syndrome, trochanteric bursitis, plantar fasciitis, and elbow syndrome) and painful arthrosis (knee, hip, hand, and finger joints). The most relevant aspects of the DEGRO S2e Consensus Guideline Radiation Therapy of Benign Diseases 2014 regarding diagnostics, treatment decision, dose prescription as well as performance of radiotherapy and results are summarized. For all indications mentioned above, retrospective and some prospective analyses have shown remarkable effects in terms of pain relief. Nevertheless, the Level of Evidence (LoE) and the Grade of Recommendation (GR) vary: LoE 1b-4 and GR A-C. Low-dose radiotherapy for painful degenerative skeletal disorders is effective in the majority of the patients and therefore it may be a reasonable therapeutic alternative when simple and non-invasive methods have been used without persistent success. For all discussed entities, single fraction doses of 0.5-1.0 Gy and total doses of 3.0-6.0 Gy/series applied with 2-3 fractions per week are recommended. (orig.) [de

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

    Science.gov (United States)

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

    2016-02-01

    Canine degenerative myelopathy (CDM) represents a unique naturally occurring animal model for human amyotrophic lateral sclerosis (ALS) because of similar clinical signs, neuropathologic findings, and involvement of the superoxide dismutase 1 (SOD1) mutation. A definitive diagnosis can only be made postmortem through microscopic detection of axonal degeneration, demyelination and astroglial proliferation, which is more severe in the dorsal columns of the thoracic spinal cord and in the dorsal portion of the lateral funiculus. Interestingly, the muscle acetylcholine receptor complexes are intact in CDM prior to functional impairment, thus suggesting that muscle atrophy in CDM does not result from physical denervation. Moreover, since sensory involvement seems to play an important role in CDM progression, a more careful investigation of the sensory pathology in ALS is also warranted. The importance of SOD1 expression remains unclear, while oxidative stress and denatured ubiquinated proteins appear to play a crucial role in the pathogenesis of CDM. In this updated narrative review we performed a systematic search of the published studies on CDM that may shed light on the pathophysiological mechanisms of human ALS. A better understanding of the factors that determine the disease progression in CDM may be beneficial for the development of effective treatments for ALS. Copyright © 2015 Elsevier GmbH. All rights reserved.

  13. Degenerative Cervical Myelopathy: A Spectrum of Related Disorders Affecting the Aging Spine.

    Science.gov (United States)

    Tetreault, Lindsay; Goldstein, Christina L; Arnold, Paul; Harrop, James; Hilibrand, Alan; Nouri, Aria; Fehlings, Michael G

    2015-10-01

    Cervical spinal cord dysfunction can result from either traumatic or nontraumatic causes, including tumors, infections, and degenerative changes. In this article, we review the range of degenerative spinal disorders resulting in progressive cervical spinal cord compression and propose the adoption of a new term, degenerative cervical myelopathy (DCM). DCM comprises both osteoarthritic changes to the spine, including spondylosis, disk herniation, and facet arthropathy (collectively referred to as cervical spondylotic myelopathy), and ligamentous aberrations such as ossification of the posterior longitudinal ligament and hypertrophy of the ligamentum flavum. This review summarizes current knowledge of the pathophysiology of DCM and describes the cascade of events that occur after compression of the spinal cord, including ischemia, destruction of the blood-spinal cord barrier, demyelination, and neuronal apoptosis. Important features of the diagnosis of DCM are discussed in detail, and relevant clinical and imaging findings are highlighted. Furthermore, this review outlines valuable assessment tools for evaluating functional status and quality of life in these patients and summarizes the advantages and disadvantages of each. Other topics of this review include epidemiology, the prevalence of degenerative changes in the asymptomatic population, the natural history and rates of progression, risk factors of diagnosis (clinical, imaging and genetic), and management strategies.

  14. DEGRO guidelines for the radiotherapy of non-malignant disorders. Part II: Painful degenerative skeletal disorders

    Energy Technology Data Exchange (ETDEWEB)

    Ott, Oliver J. [University Hospitals Erlangen, Dept. of Radiation Oncology, Erlangen (Germany); Niewald, Marcus [Saarland University Medical School, Dept. of Radiotherapy and Radiation Oncology, Homburg/Saar (Germany); Weitmann, Hajo-Dirk [Fulda Hospital, Dept. of Radiooncology and Radiotherapy, Fulda (Germany); Jacob, Ingrid [Municipal Hospital Traunstein, Dept. of Radiotherapy, Traunstein (Germany); Adamietz, Irenaeus A. [Marien Hospital Herne/Ruhr University Bochum, Dept. of Radiotherapy and Radiation Oncology, Herne (Germany); Schaefer, Ulrich [Lippe Hospital, Dept. of Radiotherapy, Lemgo (Germany); Keilholz, Ludwig [Bayreuth Hospital, Dept. of Radiotherapy, Bayreuth (Germany); Heyd, Reinhard [Center for Radiosurgery, Frankfurt a. M. (Germany); Muecke, Ralph [Marien Hospital Herne/Ruhr University Bochum, Dept. of Radiotherapy and Radiation Oncology, Herne (Germany); Lippe Hospital, Dept. of Radiotherapy, Lemgo (Germany); Collaboration: German Cooperative Group on Radiotherapy for Benign Diseases (GCG-BD)

    2014-09-20

    The purpose of this article is to summarize the updated DEGRO consensus S2e guideline recommendations for the treatment of benign painful degenerative skeletal disorders with low-dose radiotherapy. This overview reports on the role of low-dose radiotherapy in the treatment of enthesiopathies (shoulder syndrome, trochanteric bursitis, plantar fasciitis, and elbow syndrome) and painful arthrosis (knee, hip, hand, and finger joints). The most relevant aspects of the DEGRO S2e Consensus Guideline Radiation Therapy of Benign Diseases 2014 regarding diagnostics, treatment decision, dose prescription as well as performance of radiotherapy and results are summarized. For all indications mentioned above, retrospective and some prospective analyses have shown remarkable effects in terms of pain relief. Nevertheless, the Level of Evidence (LoE) and the Grade of Recommendation (GR) vary: LoE 1b-4 and GR A-C. Low-dose radiotherapy for painful degenerative skeletal disorders is effective in the majority of the patients and therefore it may be a reasonable therapeutic alternative when simple and non-invasive methods have been used without persistent success. For all discussed entities, single fraction doses of 0.5-1.0 Gy and total doses of 3.0-6.0 Gy/series applied with 2-3 fractions per week are recommended. (orig.) [German] Zusammenfassung der Empfehlungen der DEGRO-S2e-Leitlinie zur Niedrigdosis-Radiotherapie von gutartigen schmerzhaften degenerativen Skeletterkrankungen. Die vorliegende Zusammenfassung berichtet ueber die Bedeutung der Niedrigdosis-Radiotherapie in der Behandlung von Enthesiopathien (Schultersyndrom, Ellenbogensyndrom, Bursitis trochanterica, Fasciitis plantaris) und schmerzhaften Arthrosen (Knie-, Hueft, Hand- und Fingergelenksarthrosen). Die wichtigsten Aspekte der aktuellen DEGRO-S2e-Konsensus-Leitlinie Strahlentherapie gutartiger Erkrankungen bezueglich Diagnostik, Therapieentscheidungen, Dosisempfehlungen und Durchfuehrung einer Radiotherapie werden

  15. Correlation of auditory brain stem response and the MRI measurements in neuro-degenerative disorders

    International Nuclear Information System (INIS)

    Kamei, Hidekazu

    1989-01-01

    The purpose of this study is to elucidate correlations of several MRI measurements of the cranium and brain, functioning as a volume conductor, to the auditory brain stem response (ABR) in neuro-degenerative disorders. The subjects included forty-seven patients with spinocerebellar degeneration (SCD) and sixteen of amyotrophic lateral sclerosis (ALS). Statistically significant positive correlations were found between I-V and III-V interpeak latencies (IPLs) and the area of cranium and brain in the longitudinal section of SCD patients, and between I-III and III-V IPLs and the area in the longitudinal section of those with ALS. And, also there were statistically significant correlations between the amplitude of the V wave and the area of brain stem as well as that of the cranium in the longitudinal section of SCD patients, and between the amplitude of the V wave and the area of the cerebrum in the longitudinal section of ALS. In conclusion, in the ABR, the IPLs were prolonged and the amplitude of the V wave was decreased while the MRI size of the cranium and brain increased. When the ABR is applied to neuro-degenerative disorders, it might be important to consider not only the conduction of the auditory tracts in the brain stem, but also the correlations of the size of the cranium and brain which act as a volume conductor. (author)

  16. Correlation of auditory brain stem response and the MRI measurements in neuro-degenerative disorders

    Energy Technology Data Exchange (ETDEWEB)

    Kamei, Hidekazu (Tokyo Women' s Medical Coll. (Japan))

    1989-06-01

    The purpose of this study is to elucidate correlations of several MRI measurements of the cranium and brain, functioning as a volume conductor, to the auditory brain stem response (ABR) in neuro-degenerative disorders. The subjects included forty-seven patients with spinocerebellar degeneration (SCD) and sixteen of amyotrophic lateral sclerosis (ALS). Statistically significant positive correlations were found between I-V and III-V interpeak latencies (IPLs) and the area of cranium and brain in the longitudinal section of SCD patients, and between I-III and III-V IPLs and the area in the longitudinal section of those with ALS. And, also there were statistically significant correlations between the amplitude of the V wave and the area of brain stem as well as that of the cranium in the longitudinal section of SCD patients, and between the amplitude of the V wave and the area of the cerebrum in the longitudinal section of ALS. In conclusion, in the ABR, the IPLs were prolonged and the amplitude of the V wave was decreased while the MRI size of the cranium and brain increased. When the ABR is applied to neuro-degenerative disorders, it might be important to consider not only the conduction of the auditory tracts in the brain stem, but also the correlations of the size of the cranium and brain which act as a volume conductor. (author).

  17. Questionnaire for usability evaluation of orthopaedic shoes: construction and reliability in patients with degenerative disorders of the foot

    NARCIS (Netherlands)

    Jannink, M.J.A.; de Vries, Jaap; Stewart, Roy E.; Groothoff, Johan W.; Lankhorst, Gustaaf J.

    2004-01-01

    Objective: To develop a self-report questionnaire for patients with degenerative disorders of the foot to evaluate the usability of their orthopaedic shoes, and to assess the reproducibility and responsiveness of the instrument. Design: Development of the Questionnaire for Usability Evaluation of

  18. Questionnaire for usability evaluation of orthopaedic shoes : Construction and reliability in patients with degenerative disorders of the foot

    NARCIS (Netherlands)

    Jannink, MJA; de Vries, J; Stewart, RE; Groothoff, JW; Lankhorst, GJ

    2004-01-01

    Objective: To develop a self-report questionnaire for patients with degenerative disorders of the foot to evaluate the usability of their orthopaedic shoes, and to assess the reproducibility and responsiveness of the instrument. Design: Development of the Questionnaire for Usability Evaluation of

  19. Questionnaire for usability evaluation of orthopaedic shoes : Construction and reliability in patients with degenerative disorders of the foot

    NARCIS (Netherlands)

    Jannink, MJA; de Vries, J; Stewart, RE; Groothoff, JW; Lankhorst, GJ

    Objective: To develop a self-report questionnaire for patients with degenerative disorders of the foot to evaluate the usability of their orthopaedic shoes, and to assess the reproducibility and responsiveness of the instrument. Design: Development of the Questionnaire for Usability Evaluation of

  20. Effectiveness of custom-made orthopaedic shoes in the reduction of foot pain and pressure in patients with degenerative disorders of the foot

    NARCIS (Netherlands)

    Jannink, Michiel; van Dijk, Henk; IJzerman, Maarten; Groothuis-Oudshoorn, Karen; Groothoff, Johan; Lankhorst, Gustaaf

    2006-01-01

    Background: Degenerative disorders of the foot often are painful during standing and walking. It is assumed that, because of bone deformity, callus, and deformity of the plantar pads, the plantar pressure distribution changes. Prescription of orthopaedic shoes for patients with degenerative

  1. Quantitative magnetic resonance imaging and studies of degenerative diseases of the developing human brain

    International Nuclear Information System (INIS)

    Caviness, V.S. Jr.; Phil, D.; Filipek, P.A.; Kennedy, D.N.

    1992-01-01

    The Rett syndrome is a progressive disorder which is associated with regression of psychomotor development and precipitous deceleration of brain growth during the first year of life. General histopathological surveys in postmortem specimens have identified degeneration of subpopulations of neurons of the nigrostriatal system but no other evidence of degenerative process. Magnetic resonance imaging-based morphometry may usefully guide application of rigorous but demanding quantitative histologic search for evidence of neuronal degeneration. The volumes of the principal set of cortical and nuclear structures of principal interest in the disorder may be measured by currently avaiable MRI-based methods. Opimized levels of precision now allow detection of volumetric changes over time in the same brain of approximately 10% at the 95% confidence level. (author)

  2. CT scanning of the brain and lumber CSF monoamine metabolites in spinocerebellar degenerative disorders

    International Nuclear Information System (INIS)

    Sasaki, Hidenao; Kanazawa, Ichiro; Nakanishi, Takao; Kuramoto, Kenmei

    1984-01-01

    Eight patients with parenchymatous cerebellar degeneration (PCD) group (3 with late cortical cerebellar atrophy and 5 with Holmes' hereditary ataxia), 14 with olivo-ponto-cerebellar atrophy (OPCA) group (4 with Shy-Drager syndrome, 6 with OPCA without family history and 4 with Menzel type SCS), 15 with Parkinson's disease and 44 control with other neurological diseases were studied. In all the spinocerebellar degenerative disorder s (SCD) cases, CVI values corresponding to the cerebellar atrophy were definitely reduced. On the other hand, PVI values corresponding to the pontine atrophy were only significantly decreased in OPCA group. However, since there were several cases showing only questionable pontine atrpphy, it seems difficult to clearly differentiate individual OPCA cases from other SCD cases on CT films alone. Concerning monoamine metabolites in CSF, it was noted that a significant reduction of HVA and total MHPG was found in the OPCA group. Among them, the patients with overt autonomic failure showed the lowest HVA level and the cases of Menzel type of SCD showed a slight reduction of HVA but an unexpected elevation of free MHPG values. The cases of Parkinson's disease showed a definite reduction of HVA. On the other hand, the cases of PCD group showed no significant difference against controls. 5-HIAA levels were not significantly different among the SCD subgroups. (J.P.N.)

  3. CT scanning of the brain and lumbar CSF monoamine metabolites in spinocerebellar degenerative disorders

    Energy Technology Data Exchange (ETDEWEB)

    Sasaki, Hidenao; Kanazawa, Ichiro; Nakanishi, Takao; Kuramoto, Kenmei [Tsukuba Univ., Sakura, Ibaraki (Japan)

    1984-08-01

    Eight patients with parenchymatous cerebellar degeneration (PCD) group (3 with late cortical cerebellar atrophy and 5 with Holmes' hereditary ataxia), 14 with olivo-ponto-cerebellar atrophy (OPCA) group (4 with Shy-Drager syndrome, 6 with OPCA without family history and 4 with Menzel type SCS), 15 with Parkinson's disease and 44 control with other neurological diseases were studied. In all the spinocerebellar degenerative disorders (SCD) cases, CVI values corresponding to the cerebellar atrophy were definitely reduced. On the other hand, PVI values corresponding to the pontine atrophy were only significantly decreased in OPCA group. However, since there were several cases showing only questionable pontine atrophy, it seems difficult to clearly differentiate individual OPCA cases from other SCD cases on CT films alone. Concerning monoamine metabolites in CSF, it was noted that a significant reduction of HVA and total MHPG was found in the OPCA group. Among them, the patients with overt autonomic failure showed the lowest HVA level and the cases of Menzel type of SCD showed a slight reduction of HVA but an unexpected elevation of free MHPG values. The cases of Parkinson's disease showed a definite reduction of HVA. On the other hand, the cases of PCD group showed no significant difference against controls. 5-HIAA levels were not significantly different among the SCD subgroups.

  4. A 10-year institutional experience with open branched graft reconstruction of aortic aneurysms in connective tissue disorders versus degenerative disease.

    Science.gov (United States)

    Hicks, Caitlin W; Lue, Jennifer; Glebova, Natalia O; Ehlert, Bryan A; Black, James H

    2017-11-01

    Aortic reconstruction for complex thoracoabdominal aortic aneurysms (TAAAs) can be challenging, especially in patients with connective tissue disorders (CTDs) in whom tissue fragility is a major concern. Branched graft reconstruction is a more complex operation compared with inclusion patch repair of the aorta but is frequently necessary in patients with CTDs or other pathologies because of anatomic reasons. We describe our institutional experience with open branched graft reconstruction of aortic aneurysms and compare outcomes for patients with CTDs vs degenerative pathologies. We retrospectively analyzed all patients undergoing open aortic reconstruction using branched grafts at our institution between July 2006 and December 2015. Postoperative outcomes, including perioperative morbidity and mortality, midterm graft patency, and the development of new aneurysms, were compared for patients with CTD vs degenerative disease. During the 10-year study period, 137 patients (CTD, 29; degenerative, 108) underwent aortic repair with branched graft reconstruction. CTD patients were significantly younger (39 ± 1.9 vs 68 ± 1.0 years; P disease, coronary artery disease; P degenerative disease. Perioperative mortality (CTD: 10% [n = 3] vs degenerative: 6% [n = 6]; P = .40) and any complication (62% vs 55%; P = .47) were similar between groups. At a median follow-up time of 14.5 months (interquartile range: 6.5, 43.9 months), CTD patients were more likely to develop both new aortic (21%) and nonaortic (14%) aneurysms compared with the degenerative group (7% and 4% for aortic and nonaortic aneurysms, respectively; P = .02). Loss of branch graft patency occurred in 0 of 99 grafts (0%) in CTD patients and in 13 of 167 grafts (7.8%) in degenerative disease patients (P = .005). Loss of branch graft patency occurred most commonly in left renal artery bypass grafts (77%) and was clinically asymptomatic (creatinine: 1.77 ± 0.13 mg/dL currently vs 1.41 ± 0

  5. Designing and testing scene enhancement algorithms for patients with retina degenerative disorders

    Directory of Open Access Journals (Sweden)

    Downes Susan M

    2010-06-01

    Full Text Available Abstract Background Retina degenerative disorders represent the primary cause of blindness in UK and in the developed world. In particular, Age Related Macular Degeneration (AMD and Retina Pigmentosa (RP diseases are of interest to this study. We have therefore created new image processing algorithms for enhancing the visual scenes for them. Methods In this paper we present three novel image enhancement techniques aimed at enhancing the remaining visual information for patients suffering from retina dystrophies. Currently, the only effective way to test novel technology for visual enhancement is to undergo testing on large numbers of patients. To test our techniques, we have therefore built a retinal image processing model and compared the results to data from patient testing. In particular we focus on the ability of our image processing techniques to achieve improved face detection and enhanced edge perception. Results Results from our model are compared to actual data obtained from testing the performance of these algorithms on 27 patients with an average visual acuity of 0.63 and an average contrast sensitivity of 1.22. Results show that Tinted Reduced Outlined Nature (TRON and Edge Overlaying algorithms are most beneficial for dynamic scenes such as motion detection. Image Cartoonization was most beneficial for spatial feature detection such as face detection. Patient's stated that they would most like to see Cartoonized images for use in daily life. Conclusions Results obtained from our retinal model and from patients show that there is potential for these image processing techniques to improve visual function amongst the visually impaired community. In addition our methodology using face detection and efficiency of perceived edges in determining potential benefit derived from different image enhancement algorithms could also prove to be useful in quantitatively assessing algorithms in future studies.

  6. In Vitro Quantified Determination of β-Amyloid 42 Peptides, a Biomarker of Neuro-Degenerative Disorders, in PBS and Human Serum Using a Simple, Cost-Effective Thin Gold Film Biosensor.

    Science.gov (United States)

    Dai, Yifan; Molazemhosseini, Alireza; Liu, Chung Chiun

    2017-07-20

    A simple in vitro biosensor for the detection of β-amyloid 42 in phosphate-buffered saline (PBS) and undiluted human serum was fabricated and tested based on our platform sensor technology. The bio-recognition mechanism of this biosensor was based on the effect of the interaction between antibody and antigen of β-amyloid 42 to the redox couple probe of K₄Fe(CN)₆ and K₃Fe(CN)₆. Differential pulse voltammetry (DPV) served as the transduction mechanism measuring the current output derived from the redox coupling reaction. The biosensor was a three-electrode electrochemical system, and the working and counter electrodes were 50 nm thin gold film deposited by a sputtering technique. The reference electrode was a thick-film printed Ag/AgCl electrode. Laser ablation technique was used to define the size and structure of the biosensor. Cost-effective roll-to-roll manufacturing process was employed in the fabrication of the biosensor, making it simple and relatively inexpensive. Self-assembled monolayers (SAM) of 3-Mercaptopropionic acid (MPA) was employed to covalently immobilize the thiol group on the gold working electrode. A carbodiimide conjugation approach using N -(3-dimethylaminopropyl)- N '-ethylcarbodiimide hydrochloride (EDC) and N -hydroxysuccinimide (NHS) was undertaken for cross-linking antibody of β-amyloid 42 to the carboxylic groups on one end of the MPA. The antibody concentration of β-amyloid 42 used was 18.75 µg/mL. The concentration range of β-amyloid 42 in this study was from 0.0675 µg/mL to 0.5 µg/mL for both PBS and undiluted human serum. DPV measurements showed excellent response in this antigen concentration range. Interference study of this biosensor was carried out in the presence of Tau protein antigen. Excellent specificity of this β-amyloid 42 biosensor was demonstrated without interference from other species, such as T-tau protein.

  7. Canine degenerative myelopathy: biochemical characterization of superoxide dismutase 1 in the first naturally occurring non-human amyotrophic lateral sclerosis model.

    Science.gov (United States)

    Crisp, Matthew J; Beckett, Jeffrey; Coates, Joan R; Miller, Timothy M

    2013-10-01

    Mutations in canine superoxide dismutase 1 (SOD1) have recently been shown to cause canine degenerative myelopathy, a disabling neurodegenerative disorder affecting specific breeds of dogs characterized by progressive motor neuron loss and paralysis until death, or more common, euthanasia. This discovery makes canine degenerative myelopathy the first and only naturally occurring non-human model of amyotrophic lateral sclerosis (ALS), closely paralleling the clinical, pathological, and genetic presentation of its human counterpart, SOD1-mediated familial ALS. To further understand the biochemical role that canine SOD1 plays in this disease and how it may be similar to human SOD1, we characterized the only two SOD1 mutations described in affected dogs to date, E40K and T18S. We show that a detergent-insoluble species of mutant SOD1 is present in spinal cords of affected dogs that increases with disease progression. Our in vitro results indicate that both canine SOD1 mutants form enzymatically active dimers, arguing against a loss of function in affected homozygous animals. Further studies show that these mutants, like most human SOD1 mutants, have an increased propensity to form aggregates in cell culture, with 10-20% of cells possessing visible aggregates. Creation of the E40K mutation in human SOD1 recapitulates the normal enzymatic activity but not the aggregation propensity seen with the canine mutant. Our findings lend strong biochemical support to the toxic role of SOD1 in canine degenerative myelopathy and establish close parallels for the role mutant SOD1 plays in both canine and human disorders. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. What's on Your Mind? Conversation Topics Chosen by People With Degenerative Cognitive-Linguistic Disorders for Communication Boards.

    Science.gov (United States)

    Fried-Oken, Melanie; Daniels, Darlene; Ettinger, Olivia; Mooney, Aimee; Noethe, Glory; Rowland, Charity

    2015-05-01

    Conversational topics chosen by a group of adults with degenerative cognitive-linguistic disorders for personalized communication board development were examined. The patient-generated themes commonly selected are presented to guide treatment planning and communication board development. Communication boards were created for 109 adults as part of a larger research project. One autobiographical topic that each participant would enjoy discussing multiple times was represented on each communication board with 16 pictures and word labels. For this review, topics were collapsed into general themes through a consensus process and examined by gender and age. Sixty unique conversational topics were identified from 109 participants and collapsed into 9 general themes: Hobbies, Family, Travel, Work, Home/Places I've Lived, Sports/Fitness, Religion, Animals, and World War II. Age and gender produced variations in themes chosen, though no significance in rank orders was found across groups. Topics selected by adults with degenerative cognitive-linguistic disorders for communication boards resemble common conversational adult themes and do not center around basic needs or medical issues. Differences in gender and age for topic selection tend to be based on traditional roles. These general themes should be used when creating personalized communication boards for those who benefit from conversational aids.

  9. Cytokine Involvement in Biological Inflammation Related to Degenerative Disorders of the Intervertebral Disk: A Narrative Review.

    Science.gov (United States)

    De Geer, Christopher M

    2018-03-01

    The purpose of this narrative literature review is to discuss the literature regarding the potential role that cytokines play in degenerative disk disease. The inclusion criteria were studies that used inflammatory mediators in advancing disk disease processes. Research studies were limited to the last 3 decades that had free full-text available online in English. Exclusion criteria were review articles and articles pertaining to temporomandibular joints and other joints of the body other than the intervertebral disk. The following databases were searched: PubMed, EBSCOhost, and Google Scholar through March 13, 2017. A total of 82 studies were included in this review. The papers were reviewed for complex mechanisms behind the degenerative cascade, emphasizing the role of proinflammatory cytokines, which may be instrumental in processes of inflammation, neurologic pain, and disk degeneration. Interleukin-1β and tumor necrosis factor α were among the more notable cytokines involved in this cascade. Because monocyte chemoattractant protein-1 stimulates and activates macrophages in the event of infiltration, additional proinflammatory cytokines are released to act on molecules to promote blood and nerve ingrowth, resulting in pain signaling and tissue degradation. Excessive inflammation and/or tissue damage initiates a pathologic imbalance between anabolic and catabolic processes. This literature review describes how inflammatory and biochemical changes may trigger disk degeneration. Proinflammatory cytokines stimulate microvascular blood and nerve ingrowth, resulting in pain signaling and tissue degradation. This may sensitize a person to chemical and/or mechanical stimuli, contributing to severe low back pain.

  10. Procedure of Sauve-Kapandji modified for posttraumatic and degenerative disorders of the radioulnar distal articulation

    International Nuclear Information System (INIS)

    Rodriguez B, Nestor Julian; Suarez Romero, Fabio; Bocanegra Navia, Sergio; Garcia Herrera, Alvaro

    2005-01-01

    This is observational prospective study type series of cases that shows the experience of the group of surgery of hand of the Central Military Hospital between January of 1998 and Julio the 2003. 65 patients were included like surgery of salvage of the articulation radioulnar distal in different traumatic and degenerative pathologies, comparing the results with those published in the world literature. According to the modified functional scale of May this procedure showed excellent and good results in 90% of the patients. They recovered the lost function and improved the function of the distal radioulnar joint, returning to their activities of the daily life. This technique is recommended as a sure and efficient procedure, because the patients present a remarkable improvement in its quality of life and they can return to its labor activity, these results correlated with the results of the published literature

  11. The diagnostic value of axially loaded magnetic resonance imaging in patients with degenerative disorders of lumbar spine

    International Nuclear Information System (INIS)

    Liu Qingyu; Chen Jianyu; Shen Jun; Zhang Xiaoya; Liang Biling

    2008-01-01

    Objective: To evaluate the diagnostic value of axially loaded MR imaging with supine position in patients with degenerative disorders of lumbar spine. Methods Thirty asymptomatic volunteers and 89 patients were examined in psoas-relaxed position (PRP) and axially compressed supine position (ACE) of the lumbar spine. Sixty-one patients with low back pain, 19 with sciatica and 9 with neurogenic claudication were included in the symptomatic study group. The disc levels from L3 to S1 were examined. Results: In 30 asymptomatic volunteers, a significant decrease in dural sac cross-sectional area (DSCA) was found at 14 disc levels (15.6%)in 10 individuals(33.3% ) during ACE ( >15 mm 2 ). In 89 patients, a significant decrease in DSCA was found at 55 disc levels (20.6%) in 38 patients (42.7%) during ACE ( >15 mm 2 ), and the mean decrease was 28 mm 2 . During ACE, 32 disc levels with an increasing severity of disc herniation were noted in 26 patients, 16 disc levels with neural foramen stenosis were found in 12 patients, 11 disc levels with ligamentum flavum thickening were observed in 10 patients, 3 cases facet dislocation and 3 cases lumbar spondylolisthesis were also seen. In 22 of the 89 patients (24.7%), additional valuable information (AVI) was found during ACE, including 7 patients (7/9) with neurogenic claudication, 8 patients (8/19)with sciatica, and 11.5% (7/61) of the patients with low back pain. Conclusion: As compared with conventional imaging methods, axially loaded imaging provides AVI, and more occult lesions can be found during ACE. ACE MRI is a valuable tool in diagnosing degenerative disorders of lumbar spine. (authors)

  12. The Changes in the Expression of NF-KB in a Degenerative Human Intervertebral Disc model.

    Science.gov (United States)

    Sun, Zhongyi; Yin, Zhanmin; Liu, Chao; Tian, Jiwei

    2015-05-01

    We aim at determining the changes in the expression of NF-kB signaling pathway in degenerative intervertebral discs. We collected normal and degenerated intervertebral discs tissues. The normal and degenerated cells were cultivated and their histopathology and immunofluoresence studies were used to observe the position of NF-kB p65 in the cell. We also treated the nucleus pulposus cells with inflammatory factors and inhibitors. Western blot was used to analyze the expression of different proteins. Real time fluorescence-based quantitative PCR was used for observation of NF-kB regulation of change in gene expression. Immunofluorescence showed that in the non-degenerative group the p65 was found in the cytoplasm of the nucleus pulposus cell while in the degenerated cell group the p65 protein was found in the nucleus of the cell. The expression of p65 increased with increase in the degree of degenerative change of the nucleus pulposus cell. RT-PCR showed that the expression of matrix metalloproteinases, aggrecanases and IL-6 was higher in the degenerative group. The amount of aggrecan and type II collagen was significantly decreased in the degenerative group. IL-1β was able to upregulate the activation of NF-kB and the expression of MMP-13 and ADAMTS-4 was also significantly increased. The effect of these proteins can be inhibited by the NF-kB inhibitor, BAY11-7082. The activation of the NK-kB signaling pathway in a degenerative intervertebral disc is gradually increased, regulating the over-expression of matrix-degrading enzymes. It plays an important role in the degradation of extracellular matrix.

  13. Radioenzymatic and immunhistochemical demonstration of mono-amine oxidase in different mammals with regard to degenerative disorders of the central nervous system

    International Nuclear Information System (INIS)

    Konradi, C.

    1987-05-01

    Monoamine oxidase (MAO), an enzyme of the outer mitochondrial membrane, is involved in the degradation of biogenic amines. Its role in the metabolism of neurotransmitters in the brain like catecholamines and serotonin is of special importance. Pharmacological interests in neurological and psychiatric disorders require detailed investigations, especially through the discovery of two MAO-subtypes (MAO-A and MAO-B). Thus MAO-inhibitors offer the possibility of specific medical therapies. Activity of MAO-subtypes in several animal species and different tissues including human brain was determined biochemically via a radioenzymatic method. Examination was carried out for mode of action of both subtypes and response to several substrates and inhibitors. Aim was a survey about distinctive characteristics of MAO-A and MAO-B in one species as well as to others. Furthermore investigations about neuronal and glial distribution took place by histochemical and immuncyto-chemical methods. The histochemical method, which proofs the advantage to clear off pharmacological questions was carried out in the locus coeruleus of Meriones unguiculatus. Monoclonal antibodies against both MAO-subtypes were applied in the human brainstem and compared to polyclonal antibodies against tyrosine hydroxylase (TH). The most striking outcome was a lack of MAO in the neurons of substantia nigra, although TH-antibodies gave positive results. Hence questions remain open to explain the beneficial effect MAO-B-inhibitor l-deprenyl in dopamine-neuron degenerative disorders affecting substantia nigra. In particular the results require rethinking of the roles of MAO-A and MAO-B in human brain and the mode and site of action of drugs affecting their efficacy. Furthermore biochemical MAO-models in animals and their transferability to pharmacology in humans should be applied with limitations. This work is a further development of techniques applicable for human post mortem brain analysis. 152 refs., 21 figs

  14. In vitro of quantitative MR imaging of early degenerative changes in human articular cartilage

    International Nuclear Information System (INIS)

    Kim, Ok Wha; Lee, Young Jun; Cha, Sung Suk; Hwa, Ryu Ji

    2004-01-01

    To assess the applicability of quantitative MR microscopy for the detection of glycosaminoglycan (GAG) depletion as an early sign of degeneration in the articular cartilage of humans treated by trypsin. Four cartilage-bone blocks were obtained from the patient who had suffered from osteoarthritis of the knee and underwent a total knee replacement arthroscopy. Each articular cartilage segment was resected as to a round disk shape (8 mm in diameter) with a remnant of subchondral bone 1 mm in thickness. Four different culture solutions were prepared, and these solutions were 0.2 mg/ml of trypsin solution (group 1), 1 mM of Gd (DTPA) 2-mixed trypsin solution (group 2), phosphate buffered saline (PBS) (group 3), and 1 mM of Gd (DTPA) 2-mixed PBS (group 4). The cartilages were cultured and then MR imagings were performed every hour for 5 hrs, and we continued the additional cultures of 24 hrs, 36 hrs and 48 hrs. Three imaging sequences were used: T1-weighted spin echo (TR/TE, 450/22), proton density turbo spin echo with fat suppression (TR/TE, 3000/25), and CPMG (Carr-Purcell-Meiboom-Gill) (TR/TE/TI, 760/21-168, 360). MR imaging data were analyzed with pixel-by-pixel comparisons in all groups. The GAG loss in the articular cartilage was increased proportionately to the culture duration. Mean changes of T1 relaxation time were 1.2% for group 1, -1.9% for group 3, -54.7% for group 2 and -64.2% for group 4 (p< 0.05). When comparing by linear profile on the T1-weighted images, SNR increased and T1 relaxation time decreased for group 2 and 4, as the culture duration increased (p< 0.05). On the correlation analysis, there is significant correlation between GAG loss and Gd (DTPA) 2-enhancement for group 2 (p=0.0431), but there was no significant difference for group 4 (p=0.0918). More enhancement with Gd (DTPA) 2-was noted for group 2 than for group 4. Group 2 showed a diffuse enhancement in all the layers of cartilage, but for group 4, prominent enhancement was noted only in

  15. Trends analysis of surgical procedures for cervical degenerative disc disease and myelopathy in patients with tobacco use disorder.

    Science.gov (United States)

    Grisdela, Phillip; Buser, Zorica; D'Oro, Anthony; Paholpak, Permsak; Liu, John C; Wang, Jeffrey C

    2017-09-01

    This study defined the incidence and trends of surgeries performed for patients with cervical disc degeneration with and without tobacco use disorder (TUD). This study utilized the Humana Inc. database between 2007 and 2013 to identify patients with cervical disc degeneration with or without myelopathy. International Classification of Diseases, ninth revision (ICD-9) and Current Procedural Terminology (CPT) codes determined the initial diagnosis of disc degeneration, myelopathy status and TUD, whether patients received surgery, and TUD status at surgery. The prevalence of disc degeneration with myelopathy increased by 32.8% between 2007 and 2013, while disc disease with myelopathy and TUD increased by 91.6%. For patients without myelopathy, the prevalence of disc degeneration alone increased by 65.4%, and disc degeneration with myelopathy increased by 148.7%. Of myelopathy patients, 1717 (6.4%) had TUD and 1024 (59.6%) received surgery, compared to 6508 patients without TUD (26.1%). For patients without myelopathy, 11,337 (3.5%) had TUD and 787 (6.9%) underwent surgery, compared to 9716 patients (3%) without TUD. Of surgical patients, 781 (76.3%) with myelopathy and TUD still had a TUD diagnosis at surgery, and 542 (68.9%) of patients without myelopathy still had a TUD diagnosis at surgery. The prevalence of degenerative disc disease and TUD has increased more than disc disease alone. Patients with TUD were more likely to get surgery, and to have surgeries earlier than patients without TUD. Patients with TUD at the time of the diagnosis of their disc degeneration likely still had a TUD diagnosis at the time of surgery.

  16. Human Amniotic Tissue-derived Allograft, NuCel, in Posteriolateral Lumbar Fusions for Degenerative Disc Disease

    Science.gov (United States)

    2017-09-14

    Lumbar Degenerative Disc Disease; Spinal Stenosis; Spondylolisthesis; Spondylosis; Intervertebral Disk Displacement; Intervertebral Disk Degeneration; Spinal Diseases; Bone Diseases; Musculoskeletal Diseases; Spondylolysis

  17. [Basic disorders in human communication].

    Science.gov (United States)

    Peñaloza-López, Y; Gutiérrez-Silva, J; Andrade-Illañez, E N; Fierro-Evans, M A; Hernández-López, X

    1989-01-01

    This paper specifies the areas and disorders that concern human communication medicine. The frequency of the diverse disorders is analyzed in relation to age and sex, and the distribution in group ages of several disabling diseases is also discussed.

  18. Degenerative disease of the spine

    International Nuclear Information System (INIS)

    Czervionke, L.F.; Daniels, D.L.

    1991-01-01

    With few exceptions, magnetic resonance imaging (MRI) is becoming the modality of choice for the evaluation of degenerative disorders of the entire spine. With the implementation of surface coils and continued refinement and development of new pulse sequences, osseous and soft tissue structures of the spine can now be studied in great detail. The introduction of paramagnetic contrast agents has made it possible to differentiate epidural scar from recurrent disc herniation in the postoperative setting and to discern previously undetected degenerative changes within the intervertebral disc itself. This paper discusses the spectrum of degenerative diseases of the spine, including disc degeneration (intervertebral osteochondrosis), disc herniation, spinal stenosis, spondylosis deformans, and osteoarthritis. A brief description of the MR techniques and strategies used to evaluate these disorders is also

  19. Introducing Standing Weight-bearing MRI in the Di-agnostics of Low Back Pain and Degenerative Spinal Disorders

    DEFF Research Database (Denmark)

    Hansen, Bjarke Brandt

    2017-01-01

    (orthostatic syncope) during standing pMRI. In paper 1 we present in an observational study that the risk of fainting (19%) during standing pMRI could almost be eliminated by the use of an external pneumatic compression device (2%). The lumbar lordosis in the standing position is a significant contributor...... to positional changes in the morphology in the lumbar spine. In paper 2, we present in an observational study that changes in lumbar lordosis angle (ΔLA) between the conventional supine and standing position were independent of pain and the degenerative disc score. Before a full introduction of standing p...

  20. Degenerative Nerve Diseases

    Science.gov (United States)

    Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many ... viruses. Sometimes the cause is not known. Degenerative nerve diseases include Alzheimer's disease Amyotrophic lateral sclerosis Friedreich's ...

  1. Peripheral degenerative joint diseases

    Directory of Open Access Journals (Sweden)

    Nilzio Antonio da Silva

    2008-03-01

    Full Text Available Osteoarthritis, a degenerative joint disease, is the most commonrheumatic disorder mainly in a geriatric population. Manifestationsare pain, stiffness and functional loss in the affected joint.According to etiology it is classifi ed as primary (or idiopathicand secondary. Some risk factors for disease development aregenetics, race, age, sex, obesity, occupational activities andarticular biomechanics. Pathogenesis is the same for any cause orlocalization, being catabolic alterations, with synthesis, inhibitionand reparing intent of the cartilage matrix. Metalloproteinases andcytokines (IL-1,IL-6,TNF-α actions promote infl ammatory reactionand cartilage degradation. Pain, the most important symptom,does not correlate with radiologic fi ndings. Peripheral osteoarthritisoccurs predominantly in the knee, hip and hand. Diagnosis is basedon clinical features, laboratorial tests and radiological changes.Rheumatological associations’ guidelines for treatment includenon-pharmacologic (education, physiotherapy, assistive devices,and pharmacologic (analgesics, anti-infl ammatory drugs therapyand surgery. Arthroplasty seems to work better than medicines, butshould be used if other treatments have failed.

  2. [Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

    Science.gov (United States)

    Honzawa, Shiho; Sugai, Kenji; Akaike, Hiroto; Nakayama, Tojo; Fujikawa, Yoshinao; Komaki, Hirofumi; Nakagawa, Eiji; Sasaki, Masayuki

    2012-07-01

    We reported 19 cases of school-aged children. They were initially judged to have learning difficulty or school maladaptation because of attention deficits, hyperactive behaviors or poor school performance, followed by the diagnosis such as degenerative or metabolic neurological diseases. The patients consisted of 4 cases of adrenoleukodystrophy, 5 cases of dentatorubral-pallidoluysian atrophy, 3 cases of Sanfilippo syndrome, 3 cases of subacute sclerosing panencephalitis, and each one case of juvenile Gaucher disease, juvenile Huntington disease, juvenile metachromatic leukodystrophy and Leigh disease. They had markedly poor school performance, and/or abnormal behaviors, followed by seizures, character disorders or psychomotor regression. The diagnostic clues included brain CT scan and/or MRI, peculiar facial appearance and notable family histories. When the children were indicated to have learning difficulty or maladjustment to school life, we should make deliberate differential diagnoses before concluding that they have a learning disorder and/or attention-deficit/hyperactivity disorder. Instead they should be recommended to visit child neurologists, when they present with any problems as aforesaid.

  3. Are degenerative rotator cuff disorders a cause of shoulder pain? Comparison of prevalence of degenerative rotator cuff disease to prevalence of nontraumatic shoulder pain through three systematic and critical reviews

    DEFF Research Database (Denmark)

    Vincent, Karl; Leboeuf-Yde, Charlotte; Gagey, Olivier

    2017-01-01

    Hypothesis and Background The role of degeneration is not well understood for rotator cuff pain. If age-related degenerative changes would be the cause of symptoms, degeneration would precede or concur with self-reported pain. We performed 3 systematic literature reviews. Our objectives were...

  4. Aspects of atypical degenerative lesions of vertebrae

    International Nuclear Information System (INIS)

    Battikha, J.G.; Garcia, J.F.; Wettstein, P.

    1981-01-01

    Over the last 20 years, several authors have reported aspects of degenerative disease of the vertebral column with irregularity and sclerosis of the margins of the vertebral bodies [2, 4, 7-9, 13, 15, 17]. Twenty cases of such atypical degenerative vertebral lesions have been studied over a two year period and their radiological characteristics have been compared with vertebral lesions of infective origin and in the rheumatoid disorders. (orig.)

  5. Effects of age, replicative lifespan and growth rate of human nucleus pulposus cells on selecting age range for cell-based biological therapies for degenerative disc diseases.

    Science.gov (United States)

    Lee, J S; Lee, S M; Jeong, S W; Sung, Y G; Lee, J H; Kim, K W

    2016-07-01

    Autologous disc cell implantation, growth factors and gene therapy appear to be promising therapies for disc regeneration. Unfortunately, the replicative lifespan and growth kinetics of human nucleus pulposus (NP) cells related to host age are unclear. We investigated the potential relations among age, replicative lifespan and growth rate of NP cells, and determined the age range that is suitable for cell-based biological therapies for degenerative disc diseases. We used NP tissues classified by decade into five age groups: 30s, 40s, 50s, 60s and 70s. The mean cumulative population doubling level (PDL) and population doubling rate (PDR) of NP cells were assessed by decade. We also investigated correlations between cumulative PDL and age, and between PDR and age. The mean cumulative PDL and PDR decreased significantly in patients in their 60s. The mean cumulative PDL and PDR in the younger groups (30s, 40s and 50s) were significantly higher than those in the older groups (60s and 70s). There also were significant negative correlations between cumulative PDL and age, and between PDR and age. We found that the replicative lifespan and growth rate of human NP cells decreased with age. The replicative potential of NP cells decreased significantly in patients 60 years old and older. Young individuals less than 60 years old may be suitable candidates for NP cell-based biological therapies for treating degenerative disc diseases.

  6. Degenerative lumbosacral stenosis in dogs.

    Science.gov (United States)

    Meij, Björn P; Bergknut, Niklas

    2010-09-01

    Degenerative lumbosacral stenosis (DLSS) is the most common disorder of the caudal lumbar spine in dogs. This article reviews the management of this disorder and highlights the most important new findings of the last decade. Dogs with DLSS are typically neuro-orthopedic patients and can be presented with varying clinical signs, of which the most consistent is lumbosacral pain. Due to the availability of advanced imaging techniques such as computed tomography and magnetic resonance imaging that allow visualization of intervertebral disc degeneration, cauda equina compression, and nerve root entrapment, tailor-made treatments can be adopted for the individual patient. Current therapies include conservative treatment, decompressive surgery, and fixation-fusion of the L7-S1 junction. New insight into the biomechanics and pathobiology of DLSS and developments in minimally invasive surgical techniques will influence treatment options in the near future. Copyright 2010 Elsevier Inc. All rights reserved.

  7. [Urinary incontinence in degenerative spinal disease].

    Science.gov (United States)

    De Riggo, J; Benčo, M; Kolarovszki, B; Lupták, J; Svihra, J

    2011-01-01

    The aim of the study was to evaluate the presence of urinary incontinence in patients with chronic degenerative spinal disease and to identify factors affecting the occurrence and changes in urinary incontinence after surgery. The group evaluated comprised 214 patients undergoing surgery for degenerative spinal disease at our department between January 1 and December 31, 2008. The patients were categorised according to the type of their degenerative disease (cervical disc herniation, lumbar disc herniation, spinal stenosis, spinal instability or olisthesis) and the spine level involved (cervical or lumbar spine). The symptoms of urinary incontinence included leakage of urine and non-obstructive chronic urinary retention developing in association with the manifestation of vertebrogenic disorder. Patients with diseases known to increase the risk of incontinence were not included in the study. Based on a retrospective analysis of the patients' clinical notes, the occurrence of urinary incontinence in each type of degenerative spinal disease was assessed. The effect of gender, age, body mass index (BMI), neurological status and spinal disease type on the development of incontinence was statistically evaluated. The efficacy of surgical treatment was assessed on the basis of the patients' subjective complaints at the first follow-up one month after surgery. The data were evaluated by the statistical programme InSTAT (analysis of variance ANOVA, t-test). All tests were two-sided; a 0.05 level of statistical significance was used. Of the 214 patients with degenerative spinal disease, 27 (12.6%) had urinary incontinence. A higher risk of developing incontinence was found in women (p = 0.008) and in patients with radicular weakness (p = 0.023). The patients with urinary incontinence had their BMI significantly lower than patients without this disorder (p = 0.019). Age had no effect. The differences in the occurrence of urinary incontinence amongst the different types of

  8. Does hybrid fixation prevent junctional disease after posterior fusion for degenerative lumbar disorders? A minimum 5-year follow-up study.

    Science.gov (United States)

    Baioni, Andrea; Di Silvestre, Mario; Greggi, Tiziana; Vommaro, Francesco; Lolli, Francesco; Scarale, Antonio

    2015-11-01

    Medium- to long-term retrospective evaluation of clinical and radiographic outcome in the treatment of degenerative lumbar diseases with hybrid posterior fixation. Thirty patients were included with the mean age of 47.8 years (range 35 to 60 years). All patients underwent posterior lumbar instrumentation using hybrid fixation for lumbar stenosis with instability (13 cases), degenerative spondylolisthesis Meyerding grade I (6 cases), degenerative disc disease of one or more adjacent levels in six cases and mild lumbar degenerative scoliosis in five patients. Clinical outcomes were evaluated using Oswestry disability index (ODI), Roland and Morris disability questionnaire (RMDQ), and the visual analog scale (VAS) pain scores. All patients were assessed by preoperative, postoperative and follow-up standing plain radiographs and lateral X-rays with flexion and extension. Adjacent disc degeneration was also evaluated by magnetic resonance imaging (MRI) at follow-up. At a mean follow-up of 6.1 years, we observed on X-rays and/or MRI 3 cases of adjacent segment disease (10.0 %): two of them (6.6 %) presented symptoms and recurred a new surgery. The last patient (3.3 %) developed asymptomatic retrolisthesis of L3 not requiring revision surgery. The mean preoperative ODI score was 67.6, RMDQ score was 15.1, VAS back pain score was 9.5, and VAS leg pain score was 8.6. Postoperatively, these values improved to 28.1, 5.4, 3.1, and 2.9, respectively, and remained substantially unchanged at the final follow-up: (27.7, 5.2, 2.9, and 2.7, respectively). After 5-year follow-up, hybrid posterior lumbar fixation presented satisfying clinical outcomes in the treatment of degenerative disease.

  9. The SNAP trial: a double blind multi-center randomized controlled trial of a silicon nitride versus a PEEK cage in transforaminal lumbar interbody fusion in patients with symptomatic degenerative lumbar disc disorders: study protocol

    Science.gov (United States)

    2014-01-01

    Background Polyetheretherketone (PEEK) cages have been widely used in the treatment of lumbar degenerative disc disorders, and show good clinical results. Still, complications such as subsidence and migration of the cage are frequently seen. A lack of osteointegration and fibrous tissues surrounding PEEK cages are held responsible. Ceramic implants made of silicon nitride show better biocompatible and osteoconductive qualities, and therefore are expected to lower complication rates and allow for better fusion. Purpose of this study is to show that fusion with the silicon nitride cage produces non-inferior results in outcome of the Roland Morris Disability Questionnaire at all follow-up time points as compared to the same procedure with PEEK cages. Methods/Design This study is designed as a double blind multi-center randomized controlled trial with repeated measures analysis. 100 patients (18–75 years) presenting with symptomatic lumbar degenerative disorders unresponsive to at least 6 months of conservative treatment are included. Patients will be randomly assigned to a PEEK cage or a silicon nitride cage, and will undergo a transforaminal lumbar interbody fusion with pedicle screw fixation. Primary outcome measure is the functional improvement measured by the Roland Morris Disability Questionnaire. Secondary outcome parameters are the VAS leg, VAS back, SF-36, Likert scale, neurological outcome and radiographic assessment of fusion. After 1 year the fusion rate will be measured by radiograms and CT. Follow-up will be continued for 2 years. Patients and clinical observers who will perform the follow-up visits will be blinded for type of cage used during follow-up. Analyses of radiograms and CT will be performed independently by two experienced radiologists. Discussion In this study a PEEK cage will be compared with a silicon nitride cage in the treatment of symptomatic degenerative lumbar disc disorders. To our knowledge, this is the first randomized controlled

  10. Degenerative-dystrophic diseases

    International Nuclear Information System (INIS)

    Vinner, M.G.

    1983-01-01

    Differential diagnosis of degenerative-dystrophic diseases of lungs, such a s acquired emphysema and progressing dystrophy of lungs, has been elucidated. I t is shown, that roentgenofunctional tests are of a great diagnostic value. Roe ntgenologic and bronchographic rictures of different forms of emphysema and dystrophy of lungs are described

  11. 'Lumbar Degenerative Kyphosis' Is Not Byword for Degenerative Sagittal Imbalance: Time to Replace a Misconception.

    Science.gov (United States)

    Lee, Chang-Hyun; Chung, Chun Kee; Jang, Jee-Soo; Kim, Sung-Min; Chin, Dong-Kyu; Lee, Jung-Kil

    2017-03-01

    Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during agricultural work and performing activities of daily living on the floor. Unfortunately, LDK has been used as a byword for degenerative sagittal imbalance, and this sometimes causes confusion. The aim of this review was to evaluate the exact territory of LDK, and to introduce another appropriate term for degenerative sagittal deformity. Unlike what its name suggests, LDK does not only include sagittal balance disorder of the lumbar spine and kyphosis, but also sagittal balance disorder of the whole spine and little lordosis of the lumbar spine. Moreover, this disease is closely related to the occupation of female farmers and an outdated Asian life style. These reasons necessitate a change in the nomenclature of this disorder to prevent misunderstanding. We suggest the name "primary degenerative sagittal imbalance" (PDSI), which encompasses degenerative sagittal misalignments of unknown origin in the whole spine in older-age patients, and is associated with back muscle wasting. LDK may be regarded as a subgroup of PDSI related to an occupation in agriculture. Conservative treatments such as exercise and physiotherapy are recommended as first-line treatments for patients with PDSI, and surgical treatment is considered only if conservative treatments failed. The measurement of spinopelvic parameters for sagittal balance is important prior to deformity corrective surgery. LDK can be considered a subtype of PDSI that is more likely to occur in female farmers, and hence the use of LDK as a global term for all degenerative sagittal imbalance disorders is better avoided. To avoid confusion, we recommend PDSI as a newer, more accurate diagnostic term instead of LDK.

  12. The Human Tripeptide GHK-Cu in Prevention of Oxidative Stress and Degenerative Conditions of Aging: Implications for Cognitive Health

    Directory of Open Access Journals (Sweden)

    Loren Pickart

    2012-01-01

    Full Text Available Oxidative stress, disrupted copper homeostasis, and neuroinflammation due to overproduction of proinflammatory cytokines are considered leading causative factors in development of age-associated neurodegenerative conditions. Recently, a new mechanism of aging—detrimental epigenetic modifications—has emerged. Thus, compounds that possess antioxidant, anti-inflammatory activity as well as compounds capable of restoring copper balance and proper gene functioning may be able to prevent age-associated cognitive decline and ward off many common neurodegenerative conditions. The aim of this paper is to bring attention to a compound with a long history of safe use in wound healing and antiaging skin care. The human tripeptide GHK was discovered in 1973 as an activity in human albumin that caused old human liver tissue to synthesize proteins like younger tissue. It has high affinity for copper ions and easily forms a copper complex or GHK-Cu. In addition, GHK possesses a plethora of other regenerative and protective actions including antioxidant, anti-inflammatory, and wound healing properties. Recent studies revealed its ability to up- and downregulate a large number of human genes including those that are critical for neuronal development and maintenance. We propose GHK tripeptide as a possible therapeutic agent against age-associated neurodegeneration and cognitive decline.

  13. Degenerative cerebellar diseases and differential diagnoses; Degenerative Kleinhirnerkrankungen und Differenzialdiagnosen

    Energy Technology Data Exchange (ETDEWEB)

    Reith, W.; Roumia, S.; Dietrich, P. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany)

    2016-11-15

    Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia. In addition to magnetic resonance imaging (MRI), nuclear medicine imaging investigations are also helpful for the differentiation. Axial fluid-attenuated inversion recovery (FLAIR) and T2-weighted sequences can sometimes show a signal increase in the pons as a sign of degeneration of pontine neurons and transverse fibers in the basilar part of the pons. The imaging is particularly necessary to exclude other diseases, such as normal pressure hydrocephalus (NPH), multi-infarct dementia and cerebellar lesions. (orig.) [German] Klinisch imponieren Kleinhirnsyndrome durch Ataxie, Dysarthrie, Dysmetrie, Intentionstremor und Augenbewegungsstoerungen. Neben der Anamnese und klinischen Untersuchung ist die Bildgebung v. a. wichtig um andere Erkrankungen wie Hydrozephalus und Multiinfarktdemenz von degenerativen Kleinhirnerkrankungen zu differenzieren. Zu den degenerativen Erkrankungen mit Kleinhirnbeteiligung gehoeren der Morbus Parkinson, die Multisystematrophie sowie weitere Erkrankungen einschliesslich der spinozerebellaeren Ataxien. Neben der MRT sind auch nuklearmedizinische Untersuchungen zur Differenzierung hilfreich. Axiale Fluid-attenuated-inversion-recovery(FLAIR)- und T2-gewichtete Sequenzen koennen mitunter eine Signalsteigerung im Pons als Ausdruck einer Degeneration der pontinen Neuronen und transversalen Bahnen im Brueckenfuss zeigen. Die Bildgebung ist aber v. a. notwendig, um andere Erkrankungen wie Normaldruckhydrozephalus

  14. Degenerative cerebellar diseases and differential diagnoses

    International Nuclear Information System (INIS)

    Reith, W.; Roumia, S.; Dietrich, P.

    2016-01-01

    Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia. In addition to magnetic resonance imaging (MRI), nuclear medicine imaging investigations are also helpful for the differentiation. Axial fluid-attenuated inversion recovery (FLAIR) and T2-weighted sequences can sometimes show a signal increase in the pons as a sign of degeneration of pontine neurons and transverse fibers in the basilar part of the pons. The imaging is particularly necessary to exclude other diseases, such as normal pressure hydrocephalus (NPH), multi-infarct dementia and cerebellar lesions. (orig.) [de

  15. [Degenerative cerebellar diseases and differential diagnoses].

    Science.gov (United States)

    Reith, W; Roumia, S; Dietrich, P

    2016-11-01

    Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia. In addition to magnetic resonance imaging (MRI), nuclear medicine imaging investigations are also helpful for the differentiation. Axial fluid-attenuated inversion recovery (FLAIR) and T2-weighted sequences can sometimes show a signal increase in the pons as a sign of degeneration of pontine neurons and transverse fibers in the basilar part of the pons. The imaging is particularly necessary to exclude other diseases, such as normal pressure hydrocephalus (NPH), multi-infarct dementia and cerebellar lesions.

  16. Degenerative Changes of the Spine of Pilots of the RNLAF

    Science.gov (United States)

    2000-08-01

    views of the spine taken in standing 7-3 Table 2 Classification of disorders Disorder Levels General: Osteo-arthrosis / Spondylosis / Arthrosis...Deformans Cervical, thoracic, lumbar Scoliosis Cervical, thoracic, lumbar Abnormal alignment Cervical, lumbar Scheuermann’s disease / Enchondrosis Thoracic... lumbar Specific: Degenerative changes in the intervertebral disc / Discopathy Cervical, thoracic, lumbar Presence of Osteophyte’s / Osteophytic

  17. SENILE DEGENERATIVE CHANGES IN ADULT LUMBAR SPINE! - A PROSPECTIVE STUDY

    Directory of Open Access Journals (Sweden)

    Garjesh Singh

    2015-11-01

    Full Text Available : BACKGROUND: Low back pain (LBP is a common presenting complaint affecting mostly middle aged and older person and traditionally considered as ageing process, but now-a-days large number of younger people are also affected by this debilitating chronic disorder. The cause of early onset of degenerative spine disease is multifactorial, but genetical predisposition plays very important role. AIMS AND OBJECTIVE: To find out association between genetic predisposition and degenerative spine disease in adult patients and to assess the pattern of MRI findings of various degenerative diseases in lumbo-sacral spine. MATERIAL AND METHOD: The present cross-sectional study had been performed among 100 selected patients in 1yr period, who presented with chief complaint of chronic low back pain. After taking detailed clinical and professional history, MRI of lumbosacral spine had been performed. Total 100 patients were divided in two groups on the basis of genetical predisposition. Prevalence and spectrum of degenerative changes were compared between both groups. RESULTS: Hundred patients of 20 to 35-year age had been selected with mean age of 27yr. Out of 100 patients; 47 were male and 53 were female. The most common degenerative findings were desiccation of disc (95% followed by disc bulge, herniation, spinal canal stenosis, ligamentum flavum hypertrophy, facet joint hypertrophy and modic changes. L4-L5 and L5- S1 were the most commonly involved spinal levels for any degenerative pathology. CONCLUSION: Good association is seen between early onset of degenerative spine disease and genetical predisposition in patients who have history of similar type degenerative spine disease in one or more first degree relatives in comparison to those patients who do not have any genetical predisposition. So it can be concluded that heredity play important role in early onset of degenerative spine disease in adults.

  18. Cell-Based Therapies Used to Treat Lumbar Degenerative Disc Disease: A Systematic Review of Animal Studies and Human Clinical Trials

    Directory of Open Access Journals (Sweden)

    David Oehme

    2015-01-01

    Full Text Available Low back pain and degenerative disc disease are a significant cause of pain and disability worldwide. Advances in regenerative medicine and cell-based therapies, particularly the transplantation of mesenchymal stem cells and intervertebral disc chondrocytes, have led to the publication of numerous studies and clinical trials utilising these biological therapies to treat degenerative spinal conditions, often reporting favourable outcomes. Stem cell mediated disc regeneration may bridge the gap between the two current alternatives for patients with low back pain, often inadequate pain management at one end and invasive surgery at the other. Through cartilage formation and disc regeneration or via modification of pain pathways stem cells are well suited to enhance spinal surgery practice. This paper will systematically review the current status of basic science studies, preclinical and clinical trials utilising cell-based therapies to repair the degenerate intervertebral disc. The mechanism of action of transplanted cells, as well as the limitations of published studies, will be discussed.

  19. A fully organic retinal prosthesis restores vision in a rat model of degenerative blindness

    Science.gov (United States)

    Maya-Vetencourt, José Fernando; Ghezzi, Diego; Antognazza, Maria Rosa; Colombo, Elisabetta; Mete, Maurizio; Feyen, Paul; Desii, Andrea; Buschiazzo, Ambra; di Paolo, Mattia; di Marco, Stefano; Ticconi, Flavia; Emionite, Laura; Shmal, Dmytro; Marini, Cecilia; Donelli, Ilaria; Freddi, Giuliano; Maccarone, Rita; Bisti, Silvia; Sambuceti, Gianmario; Pertile, Grazia; Lanzani, Guglielmo; Benfenati, Fabio

    2017-06-01

    The degeneration of photoreceptors in the retina is one of the major causes of adult blindness in humans. Unfortunately, no effective clinical treatments exist for the majority of retinal degenerative disorders. Here we report on the fabrication and functional validation of a fully organic prosthesis for long-term in vivo subretinal implantation in the eye of Royal College of Surgeons rats, a widely recognized model of retinitis pigmentosa. Electrophysiological and behavioural analyses reveal a prosthesis-dependent recovery of light sensitivity and visual acuity that persists up to 6-10 months after surgery. The rescue of the visual function is accompanied by an increase in the basal metabolic activity of the primary visual cortex, as demonstrated by positron emission tomography imaging. Our results highlight the possibility of developing a new generation of fully organic, highly biocompatible and functionally autonomous photovoltaic prostheses for subretinal implants to treat degenerative blindness.

  20. Degenerative changes of the skeleton

    International Nuclear Information System (INIS)

    Hoeffken, H.

    1994-01-01

    Primary or secondary degeneration of the articular cartilage induces subchondral bone remodelling, which can be recognized in the bone scan by an enhanced radionuclide uptake. It cannot be distinguished from radionuclide uptake caused by other bone affections. Thus the scintigraphic diagnosis of degenerative bone disease bases essentially on the consideration of its sites of predilection. Degenerative bone changes can be differentiated from inflamation or osteonecrosis by three-phase bone scans. As SPECT provides imaging without superposition, this technique should be preferably used in the detection of degenerative changes of the vertebral column. (orig.) [de

  1. Degenerative lumbosacral stenosis in dogs

    NARCIS (Netherlands)

    Suwankong, N.

    2007-01-01

    Degenerative lumbosacral stenosis (DLS) is now recognized as a significant cause of caudal lumbar pain and pelvic limb lameness in dogs. The condition includes lumbosacral intervertebral disc degeneration and protrusion, spondylosis deformans, sclerosis of the vertebral end plates, osteoarthrosis of

  2. Rotary deformity in degenerative spondylolisthesis

    International Nuclear Information System (INIS)

    Kang, Sung Gwon; Kim, Jeong; Kho, Hyen Sim; Yun, Sung Su; Oh, Jae Hee; Byen, Ju Nam; Kim, Young Chul

    1994-01-01

    We studied to determine whether the degenerative spondylolisthesis has rotary deformity in addition to forward displacement. We have made analysis of difference of rotary deformity between the 31 study groups of symptomatic degenerative spondylolisthesis and 31 control groups without any symptom, statistically. We also reviewed CT findings in 15 study groups. The mean rotary deformity in study groups was 6.1 degree(the standard deviation is 5.20), and the mean rotary deformity in control groups was 2.52 degree(the standard deviation is 2.16)(p < 0.01). The rotary deformity can be accompanied with degenerative spondylolisthesis. We may consider the rotary deformity as a cause of symptomatic degenerative spondylolisthesis in case that any other cause is not detected

  3. Imaging and translational research: neuro degenerative diseases

    International Nuclear Information System (INIS)

    Hantraye, P.

    2009-01-01

    Advances in neuroimaging of neuro-degenerative diseases over the past two decades are the product of breakthroughs in imaging technology, more powerful computers, image-processing software, and expanding knowledge in basic and clinical neuro-science. In addition to the insights into normal brain structure and function that such methods provide, and the information that can be gained from disease-related changes in structure and function, functional imaging offers the promise of monitoring brain lesions and quantifying the therapeutic efficacy of innovative treatments for these largely incurable disorders. (author)

  4. Skipping Posterior Dynamic Transpedicular Stabilization for Distant Segment Degenerative Disease

    Directory of Open Access Journals (Sweden)

    Bilgehan Solmaz

    2012-01-01

    Full Text Available Objective. To date, there is still no consensus on the treatment of spinal degenerative disease. Current surgical techniques to manage painful spinal disorders are imperfect. In this paper, we aimed to evaluate the prospective results of posterior transpedicular dynamic stabilization, a novel surgical approach that skips the segments that do not produce pain. This technique has been proven biomechanically and radiologically in spinal degenerative diseases. Methods. A prospective study of 18 patients averaging 54.94 years of age with distant spinal segment degenerative disease. Indications consisted of degenerative disc disease (57%, herniated nucleus pulposus (50%, spinal stenosis (14.28%, degenerative spondylolisthesis (14.28%, and foraminal stenosis (7.1%. The Oswestry Low-Back Pain Disability Questionnaire and visual analog scale (VAS for pain were recorded preoperatively and at the third and twelfth postoperative months. Results. Both the Oswestry and VAS scores showed significant improvement postoperatively (P<0.05. We observed complications in one patient who had spinal epidural hematoma. Conclusion. We recommend skipping posterior transpedicular dynamic stabilization for surgical treatment of distant segment spinal degenerative disease.

  5. Glutamate synapses in human cognitive disorders.

    Science.gov (United States)

    Volk, Lenora; Chiu, Shu-Ling; Sharma, Kamal; Huganir, Richard L

    2015-07-08

    Accumulating data, including those from large genetic association studies, indicate that alterations in glutamatergic synapse structure and function represent a common underlying pathology in many symptomatically distinct cognitive disorders. In this review, we discuss evidence from human genetic studies and data from animal models supporting a role for aberrant glutamatergic synapse function in the etiology of intellectual disability (ID), autism spectrum disorder (ASD), and schizophrenia (SCZ), neurodevelopmental disorders that comprise a significant proportion of human cognitive disease and exact a substantial financial and social burden. The varied manifestations of impaired perceptual processing, executive function, social interaction, communication, and/or intellectual ability in ID, ASD, and SCZ appear to emerge from altered neural microstructure, function, and/or wiring rather than gross changes in neuron number or morphology. Here, we review evidence that these disorders may share a common underlying neuropathy: altered excitatory synapse function. We focus on the most promising candidate genes affecting glutamatergic synapse function, highlighting the likely disease-relevant functional consequences of each. We first present a brief overview of glutamatergic synapses and then explore the genetic and phenotypic evidence for altered glutamate signaling in ID, ASD, and SCZ.

  6. Cross-cultural adaptation of the Neck Disability Index and Copenhagen Neck Functional Disability Scale for patients with neck pain due to degenerative and discopathic disorders. Psychometric properties of the Polish versions

    Directory of Open Access Journals (Sweden)

    Glowacki Maciej

    2011-04-01

    Full Text Available Abstract Background Even though there are several region-specific functional outcome questionnaires measuring neck disorders that have been developed in English-speaking countries, no Polish version has ever been validated. The purpose of our study was to translate, culturally adapt and validate the Neck Disability Index (NDI and Copenhagen Neck Functional Disability Scale (CDS for Polish-speaking patients with neck pain. Methods The translation was carried out according to the International Quality of Life Association (IQOLA Project. Sixty patients were treated due to degenerative and discopathic disorders in the cervical spine filled out the NDI-PL and the CDS-PL. The pain level was evaluated using the Visual Analog Scale. The mean age of the assessed group was 47.1 years (SD 8.9. We used Cronbach's alpha to assess internal consistency. We assessed the test-retest reliability using the Intraclass Correlation Coefficients (ICCs. The Spearman's rank correlation coefficient (rS was used to determine dependency between quantitative characteristics. The Mann-Whitney test was applied to determine dependency between quantitative and qualitative characteristics. Results The Cronbach's alpha values were excellent for the NDI-PL in the test and in the retest (0.84, 0.85, respectively, and for the CDS-PL (0.90 in the test and in the retest. Intraclass Correlation Coefficients were excellent for the CDS-PL and NDI-PL and equalled 0.93 (95% CI from 0.89 to 0.95 and 0.87 (95% CI from 0.80 to 0.92, respectively The concurrent validity was good in the test and in the retest (rs = 0.42 p Conclusions The present versions of the NDI-PL and CDS-PL, the first to be published in Polish, have proven to be reliable and valid for patients with degenerative changes in the cervical spine. The NDI-PL and CDS-PL have excellent internal consistency and test-retest reliability, and good concurrent validity. The adapted questionnaires showed a strong inter-correlation both

  7. Neuro degenerative diseases: clinical concerns

    International Nuclear Information System (INIS)

    Ibanez, V.

    2005-01-01

    Idiopathic Parkinson's disease (PD) and Alzheimer's disease (AD) are the main neuro-degenerative diseases (NDDs) seen clinically. They share some common clinical symptoms and neuro-pathological findings. The increase of life expectancy in the developed countries will inevitably contribute to enhance the prevalence of these diseases. Behavioral disorders, common in NDDs, will produce major care management challenges. Idiopathic Parkinson's disease corresponds to a histopathological diagnosis, based on the observation of a de-pigmentation and a neuronal loss in the substantia nigra, as well as on the presence of intra-neuronal inclusion bodies. AD is insidious with slowly progressive dementia in which the decline in memory constitutes the main complaint. The diagnosis of definite AD requires the presence of clinical criteria as well as the histopathological confirmation of brain lesions. The two main lesions are the presence of senile plaques and neuro-fibrillary tangles. Positron emission tomography (PET) explores cerebral metabolism and neurotransmitter kinetics in NDDs using principally [ 18 F]-deoxyglucose and [ 18 F]-dopa. Nigrostriatal dopaminergic function is altered in PD, as evidenced by the low uptake of [ 18 F]-dopa in the posterior putamen as compared to anterior putamen and caudate nucleus. In contrast, [ 18 F]-dopa uptake is equally depressed in all striatal structures in progressive supra-nuclear palsy. Regional glucose metabolism at rest is preserved in elderly once cerebral atrophy is taken into account. On the contrary, glucose metabolism is globally reduced in AD, with marked decrease in the parietal and temporal regions. PET has proved to be useful to study in vivo neurochemical processes in patients suffering from NDDs. The potential of this approach is still largely unexploited, and depends on new ligand production to establish early diagnosis and treatment follow-up. (author)

  8. Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia.

    Science.gov (United States)

    Chiang, Shannon; Kalinowski, Danuta S; Jansson, Patric J; Richardson, Des R; Huang, Michael L-H

    2017-08-04

    Mitochondrial homeostasis is essential for maintaining healthy cellular function and survival. The detrimental involvement of mitochondrial dysfunction in neuro-degenerative diseases has recently been highlighted in human conditions, such as Parkinson's, Alzheimer's and Huntington's disease. Friedreich's ataxia (FA) is another neuro-degenerative, but also cardio-degenerative condition, where mitochondrial dysfunction plays a crucial role in disease progression. Deficient expression of the mitochondrial protein, frataxin, is the primary cause of FA, which leads to adverse alterations in whole cell and mitochondrial iron metabolism. Dys-regulation of iron metabolism in these compartments, results in the accumulation of inorganic iron deposits in the mitochondrial matrix that is thought to potentiate oxidative damage observed in FA. Therefore, the maintenance of mitochondrial homeostasis is crucial in the progression of neuro-degenerative conditions, particularly in FA. In this review, vital mitochondrial homeostatic processes and their roles in FA pathogenesis will be discussed. These include mitochondrial iron processing, mitochondrial dynamics (fusion and fission processes), mitophagy, mitochondrial biogenesis, mitochondrial energy production and calcium metabolism. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. ‘Lumbar Degenerative Kyphosis’ Is Not Byword for Degenerative Sagittal Imbalance: Time to Replace a Misconception

    Science.gov (United States)

    Lee, Chang-Hyun; Chung, Chun Kee; Jang, Jee-Soo; Kim, Sung-Min; Chin, Dong-Kyu; Lee, Jung-Kil

    2017-01-01

    Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during agricultural work and performing activities of daily living on the floor. Unfortunately, LDK has been used as a byword for degenerative sagittal imbalance, and this sometimes causes confusion. The aim of this review was to evaluate the exact territory of LDK, and to introduce another appropriate term for degenerative sagittal deformity. Unlike what its name suggests, LDK does not only include sagittal balance disorder of the lumbar spine and kyphosis, but also sagittal balance disorder of the whole spine and little lordosis of the lumbar spine. Moreover, this disease is closely related to the occupation of female farmers and an outdated Asian life style. These reasons necessitate a change in the nomenclature of this disorder to prevent misunderstanding. We suggest the name “primary degenerative sagittal imbalance” (PDSI), which encompasses degenerative sagittal misalignments of unknown origin in the whole spine in older-age patients, and is associated with back muscle wasting. LDK may be regarded as a subgroup of PDSI related to an occupation in agriculture. Conservative treatments such as exercise and physiotherapy are recommended as first-line treatments for patients with PDSI, and surgical treatment is considered only if conservative treatments failed. The measurement of spinopelvic parameters for sagittal balance is important prior to deformity corrective surgery. LDK can be considered a subtype of PDSI that is more likely to occur in female farmers, and hence the use of LDK as a global term for all degenerative sagittal imbalance disorders is better avoided. To avoid confusion, we recommend PDSI as a newer, more accurate diagnostic term instead of LDK. PMID:28264231

  10. Degenerative changes of the skeleton

    International Nuclear Information System (INIS)

    Hoeffken, H.

    1997-01-01

    Degeneration of the articular cartilage induces subchondral bone remodelling, which can be recognized in the bone scan by an enhanced radionuclide uptake. It cannot be distinguished from radionuclide uptake caused by other bony lesions. Thus the scintigraphic diagnosis of degenerative bone disease bases essentially on the consideration of its sites of predilection and on the exclusion of inflammation by three-phase bone scans. Due to the higher spatial resolution compared to planar imaging, SPECT is preferably used in the detection of degenerative changes of the vertebral column. As radionuclide uptake is enhanced already in the early stage of degenerative changes and only in sites of active disease but not in old, healed lesions, SPECT-imaging can make a contribution to the differential diagnosis of back pain. (orig.) [de

  11. Arthroscopic surgery for degenerative knee

    DEFF Research Database (Denmark)

    Thorlund, J B; Juhl, C B; Roos, E M

    2015-01-01

    OBJECTIVE: To determine benefits and harms of arthroscopic knee surgery involving partial meniscectomy, debridement, or both for middle aged or older patients with knee pain and degenerative knee disease. DESIGN: Systematic review and meta-analysis. MAIN OUTCOME MEASURES: Pain and physical function....... RESULTS: The search identified nine trials assessing the benefits of knee arthroscopic surgery in middle aged and older patients with knee pain and degenerative knee disease. The main analysis, combining the primary endpoints of the individual trials from three to 24 months postoperatively, showed a small...... included symptomatic deep venous thrombosis (4.13 (95% confidence interval 1.78 to 9.60) events per 1000 procedures), pulmonary embolism, infection, and death. CONCLUSIONS: The small inconsequential benefit seen from interventions that include arthroscopy for the degenerative knee is limited in time...

  12. Determination of the Oswestry Disability Index score equivalent to a "satisfactory symptom state" in patients undergoing surgery for degenerative disorders of the lumbar spine-a Spine Tango registry-based study.

    Science.gov (United States)

    van Hooff, Miranda L; Mannion, Anne F; Staub, Lukas P; Ostelo, Raymond W J G; Fairbank, Jeremy C T

    2016-10-01

    The achievement of a given change score on a valid outcome instrument is commonly used to indicate whether a clinically relevant change has occurred after spine surgery. However, the achievement of such a change score can be dependent on baseline values and does not necessarily indicate whether the patient is satisfied with the current state. The achievement of an absolute score equivalent to a patient acceptable symptom state (PASS) may be a more stringent measure to indicate treatment success. This study aimed to estimate the score on the Oswestry Disability Index (ODI, version 2.1a; 0-100) corresponding to a PASS in patients who had undergone surgery for degenerative disorders of the lumbar spine. This is a cross-sectional study of diagnostic accuracy using follow-up data from an international spine surgery registry. The sample includes 1,288 patients with degenerative lumbar spine disorders who had undergone elective spine surgery, registered in the EUROSPINE Spine Tango Spine Surgery Registry. The main outcome measure was the ODI (version 2.1a). Surgical data and data from the ODI and Core Outcome Measures Index (COMI) were included to determine the ODI threshold equivalent to PASS at 1 year (±1.5 months; n=780) and 2 years (±2 months; n=508) postoperatively. The symptom-specific well-being item of the COMI was used as the external criterion in the receiver operating characteristic (ROC) analysis to determine the ODI threshold equivalent to PASS. Separate sensitivity analyses were performed based on the different definitions of an "acceptable state" and for subgroups of patients. JF is a copyright holder of the ODI. The ODI threshold for PASS was 22, irrespective of the time of follow-up (area under the curve [AUC]: 0.89 [sensitivity {Se}: 78.3%, specificity {Sp}: 82.1%] and AUC: 0.91 [Se: 80.7%, Sp: 85.6] for the 1- and 2-year follow-ups, respectively). Sensitivity analyses showed that the absolute ODI-22 threshold for the two follow-up time-points were

  13. Spinal decompensation in degenerative lumbar scoliosis

    NARCIS (Netherlands)

    de Vries, A.A.; Mullender, M.G.; Pluymakers, W.J.; Castelein, R.M.; van Royen, B.J.

    2010-01-01

    Due to the aging population, degenerative scoliosis is a growing clinical problem. It is associated with back pain and radicular symptoms. The pathogenesis of degenerative scoliosis lies in degenerative changes of the spinal structures, such as the intervertebral disc, the facet joints and the

  14. Targeting Protein Aggregation for the Treatment of Degenerative Diseases

    Science.gov (United States)

    Eisele, Yvonne S.; Monteiro, Cecilia; Fearns, Colleen; Encalada, Sandra E.; Wiseman, R. Luke; Powers, Evan T.; Kelly, Jeffery W.

    2015-01-01

    The aggregation of specific proteins is hypothesized to underlie several degenerative diseases, collectively called amyloid disorders. However, the mechanistic connection between the process of protein aggregation and tissue degeneration is not yet fully understood. Here, we review current and emerging strategies to ameliorate aggregation-associated degenerative disorders, with a focus on disease-modifying strategies that prevent the formation of and/or eliminate protein aggregates. Persuasive pharmacologic and genetic evidence now support protein aggregation as the cause of post-mitotic tissue dysfunction or loss. However, a more detailed understanding of the factors that trigger and sustain aggregate formation, as well as the structure-activity relationships underlying proteotoxicity are needed to develop future disease-modifying therapies. PMID:26338154

  15. Free Software for Disorders of Human Communication

    Directory of Open Access Journals (Sweden)

    William Ricardo Rodríguez Dueñas

    2015-05-01

    Full Text Available Introduction: New technologies are increasingly used by the health sector for its implementation in therapeutic interventions. However, in the case of speech therapists, there are many unknown free software-based tools which could support their daily work. This paper summarizes fourteen free software-based tools that can support interventions in early stimulation, assessment and control of voice and speech, several resources for augmentative and alternative communication and tools that facilitate access to the computer. Materials and methods: The information presented here is the result of a general review of software-based tools designed to treat human communication disorders. Criteria for inclusion and exclusion were established to select tools and these were installed and tested. Results: 22 tools were found and 14 were selected and classified in these categories: Early stimulation and capture attention, acoustic signal processing of voice, speech processing, Augmentative and Alternative Communication and Other; the latter includes tools for access to the computer without the need for advanced computer skills. Discussion: The set of tools discussed in this paper provides free computer-based tools to therapists in order to help their interventions, additionally, promotes the improvement of computer skills so necessary in today’s society of professionals.

  16. New techniques for positron emission tomography in the study of human neurological disorders

    International Nuclear Information System (INIS)

    Kuhl, D.E.

    1989-11-01

    This progress report represents a summary of our performance during the two year period following initial start-up of these research activities at Michigan. Productivity has been excellent; already over 47 papers and abstracts have been published or accepted for publication from this still young program. They represent significant contributions to extending the technology of positron emission tomography in the study of human neurological disorders. Our focus is to develop more cost effective and efficient means for producing new functionally specific tracers and simpler, less expensive, means for acquiring and interpreting quantitative data. These improved processes are required for the future growth of PET as a sophisticated research tool and for the transfer of this technology to clinical use. Our approach concentrates on two separate yet related areas, radiosynthesis and data analysis. In subproject 1, Drs. Jewett and Mulholland have introduced innovative methods for improving 11C and 18F synthetic processes. In Subproject 2, Dr. Hutchins has laid the foundations for an objective analysis of the limitations and opportunities for quantifying regional PET data. In Subproject 3, Dr. Koeppe has extended rapid techniques for parameter estimation in kinetic modeling of new ligands. Finally, in Subproject 4, Dr. Frey has applied kinetic analysis to ligand tracing of the cholinergic neurotransmitter system in animal and human brain. These DOE supported studies have direct impact on clinical research here and elsewhere which is expected to improve diagnosis and treatment of degenerative neurological diseases, mental illness and brain tumors. 47 refs., 7 figs., 4 tabs

  17. The effect of childhood conduct disorder on human capital.

    Science.gov (United States)

    Webbink, Dinand; Vujić, Sunčica; Koning, Pierre; Martin, Nicholas G

    2012-08-01

    This paper estimates the longer-term effects of childhood conduct disorder on human capital accumulation and violent and criminal behavior later in life using data of Australian twins. We measure conduct disorder with a rich set of indicators based on diagnostic criteria from psychiatry. Using ordinary least squares and twin fixed effects estimation approaches, we find that early-age (pre-18) conduct disorder problems significantly affect both human capital accumulation and violent and criminal behavior over the life course. In addition, we find that conduct disorder is more deleterious if these behaviors occur earlier in life. Copyright © 2011 John Wiley & Sons, Ltd.

  18. Arthroscopic surgery for degenerative knee

    DEFF Research Database (Denmark)

    Thorlund, Jonas Bloch; Juhl, C B; Roos, E M

    2015-01-01

    . DATA SOURCES: Systematic searches for benefits and harms were carried out in Medline, Embase, CINAHL, Web of Science, and the Cochrane Central Register of Controlled Trials (CENTRAL) up to August 2014. Only studies published in 2000 or later were included for harms. ELIGIBILITY CRITERIA FOR SELECTING...... included symptomatic deep venous thrombosis (4.13 (95% confidence interval 1.78 to 9.60) events per 1000 procedures), pulmonary embolism, infection, and death. CONCLUSIONS: The small inconsequential benefit seen from interventions that include arthroscopy for the degenerative knee is limited in time...

  19. Transcriptomic alterations during ageing reflect the shift from cancer to degenerative diseases in the elderly.

    Science.gov (United States)

    Aramillo Irizar, Peer; Schäuble, Sascha; Esser, Daniela; Groth, Marco; Frahm, Christiane; Priebe, Steffen; Baumgart, Mario; Hartmann, Nils; Marthandan, Shiva; Menzel, Uwe; Müller, Julia; Schmidt, Silvio; Ast, Volker; Caliebe, Amke; König, Rainer; Krawczak, Michael; Ristow, Michael; Schuster, Stefan; Cellerino, Alessandro; Diekmann, Stephan; Englert, Christoph; Hemmerich, Peter; Sühnel, Jürgen; Guthke, Reinhard; Witte, Otto W; Platzer, Matthias; Ruppin, Eytan; Kaleta, Christoph

    2018-01-30

    Disease epidemiology during ageing shows a transition from cancer to degenerative chronic disorders as dominant contributors to mortality in the old. Nevertheless, it has remained unclear to what extent molecular signatures of ageing reflect this phenomenon. Here we report on the identification of a conserved transcriptomic signature of ageing based on gene expression data from four vertebrate species across four tissues. We find that ageing-associated transcriptomic changes follow trajectories similar to the transcriptional alterations observed in degenerative ageing diseases but are in opposite direction to the transcriptomic alterations observed in cancer. We confirm the existence of a similar antagonism on the genomic level, where a majority of shared risk alleles which increase the risk of cancer decrease the risk of chronic degenerative disorders and vice versa. These results reveal a fundamental trade-off between cancer and degenerative ageing diseases that sheds light on the pronounced shift in their epidemiology during ageing.

  20. Lymphocyte concanavalin A capping: a similarity between Down's syndrome and early onset primary degenerative dementia.

    OpenAIRE

    Duijndam-van den Berge, M; Goekoop, J G

    1986-01-01

    Lymphocyte capping with concanavalin A was studied in adult patients with Down's syndrome and aged patients with primary degenerative dementia. In both disorders a decreased capping was found as compared with age-matched and clinically relevant control groups. Colchicine had a strong enhancing effect on capping in Down's syndrome. In primary degenerative dementia the enhancing effect of colchicine was restricted to a subgroup of patients with onset of the dementing illness before the age of 8...

  1. A Preliminary Classification of Human Functional Sexual Disorders

    Science.gov (United States)

    Sharpe, Lawrence; And Others

    1976-01-01

    A preliminary classification is presented for functional human sexual disorders. This system is based on objective behavior and reports of distress. Five categories of sexual disorders are proposed, including the behavioral, psychological and informational components of sexual functioning in the individual and the couple. (Author)

  2. Degenerative leiomyopathy | Henning | SA Journal of Radiology

    African Journals Online (AJOL)

    Degenerative leiomyopathy (DL) is a distinctive form of acquired degenerative visceral myopathy of uncertain aetiology. It occurs mainly in Africa and results in intestinal pseudo-obstruction (IP). Thirtynine patients from the Western Cape region of South Africa have been reported.1 Characteristic clinical features included a ...

  3. Imaging of demyelinating and degenerative diseases of the brain

    International Nuclear Information System (INIS)

    Drayer, B.P.

    1987-01-01

    The emergence of cross-sectional brain imaging in the past decade has greatly expanded the role of imaging as a primary diagnostic modality for demyelinating and degenerative brain disorders. To remain an effective neurologic consultant, the radiologist must better understand the neuropathology and functional significance of these disorders. MR imaging has become the dominant imaging modality for multiple sclerosis and all demyelinating and dysmyelinating disorders. Detection is most sensitive with intermediate and T2-weighted spin-echo pulse sequences. Although increased signal intensity in the white matter is a sensitive but nonspecific finding, a knowledge of the patient's history and disease pathoanatomy greatly improves diagnostic specificity. Since an increasing proportion of the population is over 65 years of age, the distinction of normal versus pathologic aging becomes critical. The role of imaging in dementing illness is to distinguish primary degenerative dementia from normal aging changes, vascular medullary artery distribution disease, microangiopathic leukoencephalopathy, communicating hydrocephalus, and mass lesions. The role of MR imaging, including brain iron mapping, is analyzed in bradykinetic, choreiform, and dystonic disorders. The complications of chronic ethanol abuse, including vermian atrophy, central pontine myelinolysis, and Wernicke encephalopathy, are also reviewed

  4. Shining evolutionary light on human sleep and sleep disorders.

    Science.gov (United States)

    Nunn, Charles L; Samson, David R; Krystal, Andrew D

    2016-01-01

    Sleep is essential to cognitive function and health in humans, yet the ultimate reasons for sleep-i.e. 'why' sleep evolved-remain mysterious. We integrate findings from human sleep studies, the ethnographic record, and the ecology and evolution of mammalian sleep to better understand sleep along the human lineage and in the modern world. Compared to other primates, sleep in great apes has undergone substantial evolutionary change, with all great apes building a sleeping platform or 'nest'. Further evolutionary change characterizes human sleep, with humans having the shortest sleep duration, yet the highest proportion of rapid eye movement sleep among primates. These changes likely reflect that our ancestors experienced fitness benefits from being active for a greater portion of the 24-h cycle than other primates, potentially related to advantages arising from learning, socializing and defending against predators and hostile conspecifics. Perspectives from evolutionary medicine have implications for understanding sleep disorders; we consider these perspectives in the context of insomnia, narcolepsy, seasonal affective disorder, circadian rhythm disorders and sleep apnea. We also identify how human sleep today differs from sleep through most of human evolution, and the implications of these changes for global health and health disparities. More generally, our review highlights the importance of phylogenetic comparisons in understanding human health, including well-known links between sleep, cognitive performance and health in humans. © The Author(s) 2016. Published by Oxford University Press on behalf of the Foundation for Evolution, Medicine, and Public Health.

  5. Stereotypic behaviors in degenerative dementias.

    Science.gov (United States)

    Prioni, S; Fetoni, V; Barocco, F; Redaelli, V; Falcone, C; Soliveri, P; Tagliavini, F; Scaglioni, A; Caffarra, P; Concari, L; Gardini, S; Girotti, F

    2012-11-01

    Stereotypies are simple or complex involuntary/unvoluntary behaviors, common in fronto-temporal dementia (FTD), but not studied in other types of degenerative dementias. The aim was to investigate stereotypy frequency and type in patients with FTD, Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and Parkinson's disease with dementia (PDD) in a multicenter observational study; and to investigate the relation of stereotypies to cognitive, behavioral and motor impairment. One hundred fifty-five consecutive outpatients (45 AD, 40 FTD, 35 PSP and 35 PDD) were studied in four hospitals in northern Italy. Stereotypies were examined by the five-domain Stereotypy Rating Inventory. Cognition was examined by the Mini Mental State and Frontal Assessment Battery, neuropsychiatric symptoms by the Neuropsychiatric Inventory, and motor impairment and invalidity by the Unified Parkinson's Disease Rating Scale part III, and activities of daily living. Stereotypies were present in all groups. FTD and PDD had the greatest frequency of one-domain stereotypies; FTD also had the greatest frequency of two-or-more domain stereotypies; movement stereotypies were the most common stereotypies in all groups. AD patients had fewer stereotypies than the other groups. Stereotypies are not exclusive to FTD, but are also fairly common in PSP and PDD, though less so in AD. Stereotypies may be underpinned by dysfunctional striato-frontal circuits, known to be damaged in PSP and PDD, as well as FTD.

  6. ?Lumbar Degenerative Kyphosis? Is Not Byword for Degenerative Sagittal Imbalance: Time to Replace a Misconception

    OpenAIRE

    Lee, Chang-Hyun; Chung, Chun Kee; Jang, Jee-Soo; Kim, Sung-Min; Chin, Dong-Kyu; Lee, Jung-Kil

    2017-01-01

    Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during agricultural work and performing activities of daily living on the floor. Unfortunately, LDK has been used as a byword for degenerative sagittal imbalance, and this sometimes causes confusion. The aim of this review was to evaluate the exact territory of LDK, and to introduce another appropriate term for degenerative sagittal...

  7. Inherited Retinal Degenerative Clinical Trial Network. Addendum

    Science.gov (United States)

    2013-10-01

    inherited orphan retinal degenerative diseases and dry age-related macular degeneration (AMD) through the conduct of clinical trials and other...design and conduct of effective and efficient clinical trials for inherited orphan retinal degenerative diseases and dry AMD; • Limited number and...linica l trial in the NEER network for autosomal dominant retinitis pigmentosa, and the ProgSTAR studies for Stargardt disease ) . As new interventions b

  8. Degenerative Joint Diseases and Neuroinflammation.

    Science.gov (United States)

    Fusco, Mariella; Skaper, Stephen D; Coaccioli, Stefano; Varrassi, Giustino; Paladini, Antonella

    2017-04-01

    Rheumatic and joint diseases, as exemplified by osteoarthritis and rheumatoid arthritis, are among the most widespread painful and disabling pathologies across the globe. Given the continuing rise in life expectancy, their prevalence is destined to grow. Osteoarthritis, a degenerative joint disease, is, in particular, on its way to becoming the fourth leading cause of disability worldwide by 2020, with the rising incidence of obesity in addition to age being important factors. It is estimated that 25% of osteoarthritic individuals are unable to perform daily activities. Accompanying osteoarthritis is rheumatoid arthritis, which is a chronic systemic disease that often causes pain and deformity. At least 50% of those affected are unable to remain gainfully employed within 10 years of disease onset. A growing body of evidence now points to inflammation, locally and more systemically, as a promoter of damage to joints and bones, as well as joint-related functional deficits. The pathogenesis underlying joint diseases remains unclear; however, it is currently believed that cross-talk between cartilage and subchondral bone-and loss of balance between these two structures in joint diseases-is a critical element. This view is amplified by the presence of mast cells, whose dysregulation is associated with alterations of junction structures (cartilage, bone, synovia, matrix, nerve endings, and blood vessels). In addition, persistent activation of mast cells facilitates the development of spinal neuroinflammation mediated through their interaction with microglia. Unfortunately, current treatment strategies for rheumatic and articular disease are symptomatic and do little to limit disease progression. Research now should be directed at therapeutic modalities that target osteoarticular structural elements and thereby delaying disease progression and joint replacement. © 2016 World Institute of Pain.

  9. DisFace: A Database of Human Facial Disorders

    Directory of Open Access Journals (Sweden)

    Paramjit Kaur

    2017-10-01

    Full Text Available Face is an integral part of human body by which an individual communicates in the society. Its importance can be highlighted by the fact that a person deprived of face cannot sustain in the living world. In the past few decades, human face has gained attention of several researchers, whether it is related to facial anthropometry, facial disorder, face transplantation or face reconstruction. Several researches have also shown the correlation between neuropsychiatry disorders and human face and also that how face recognition abilities are correlated with these disorders. Currently, several databases exist which contain the facial images of several individuals captured from different sources. The advantage of these databases is that the images in these databases can be used for testing and training purpose. However, in current date no such database exists which would provide not only facial images of individuals; but also the literature concerning the human face, list of several genes controlling human face, list of facial disorders and various tools which work on facial images. Thus, the current research aims at developing a database of human facial disorders using bioinformatics approach. The database will contain information about facial diseases, medications, symptoms, findings, etc. The information will be extracted from several other databases like OMIM, PubChem, Radiopedia, Medline Plus, FDA, etc. and links to them will also be provided. Initially, the diseases specific for human face have been obtained from already created published corpora of literature using text mining approach. Becas tool was used to obtain the specific task.  A dataset will be created and stored in the form of database. It will be a database containing cross-referenced index of human facial diseases, medications, symptoms, signs, etc. Thus, a database on human face with complete existing information about human facial disorders will be developed. The novelty of the

  10. Is risk of degenerative musculoskeletal conditions associated with pre-pregnancy body mass index and parity?

    DEFF Research Database (Denmark)

    Bliddal, Mette; Pottegård, Anton; Kirkegaard, Helene

    Background Obesity among women may influence the risk of degenerative musculoskeletal conditions (MSCs) and contribute to poor quality of life. Parity, which constitutes a sudden natural increase in weight as well it affects long-term body mass index (BMI), may put strain on the musculoskeletal....... Information on height and weight prior to pregnancy was obtained from telephone interviews and parity from the Danish Medical Birth Registry. Diagnoses on degenerative MSC including osteoarthritis, disc disorders, low back pain, and soft tissue disorders were obtained from the National Patient Registry......% confidence interval 1.41-1.83]). Conclusions High pre-pregnancy BMI increased the occurrence of degenerative MSC in the years following pregnancy and childbirth. In combination with increasing pre-pregnancy BMI, higher parity added to an already elevated risk. Prevention of maternal overweight may reduce...

  11. Human GRIN2B variants in neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Chun Hu

    2016-10-01

    Full Text Available The development of whole exome/genome sequencing technologies has given rise to an unprecedented volume of data linking patient genomic variability to brain disorder phenotypes. A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD, attention deficit hyperactivity disorder (ADHD, developmental delay, epilepsy, and schizophrenia. The GRIN2B gene plays a crucial role in normal neuronal development and is important for learning and memory. Mutations in human GRIN2B were distributed throughout the entire gene in a number of patients with various neuropsychiatric and developmental disorders. Studies that provide functional analysis of variants are still lacking, however current analysis of de novo variants that segregate with disease cases such as intellectual disability, developmental delay, ASD or epileptic encephalopathies reveal altered NMDAR function. Here, we summarize the current reports of disease-associated variants in GRIN2B from patients with multiple neurodevelopmental disorders, and discuss implications, highlighting the importance of functional analysis and precision medicine therapies.

  12. Degenerative lumbar spondylolisthesis: an epidemiological perspective: the Copenhagen Osteoarthritis Study

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Rovsing, Hans

    2007-01-01

    .001), and between BMI in 1993 and both L4 and L5 olisthesis were found (L4: P = 0.003; L5: P = 0.006). Lumbar lordosis was associated with degenerative spondylolisthesis in women. Occupational exposures to daily lifting or smoking were not associated with degenerative spondylolisthesis. Degenerative...... spondylolisthesis was associated with increased age in both sexes (L4: P lordosis were significantly associated with degenerative spondylolisthesis in women. In men, no individual risk factors for degenerative...

  13. The Mircen project, neuro-degenerative disease: mechanisms, therapeutics and imaging research Unit URA Cea Cnrs 2210

    International Nuclear Information System (INIS)

    Hantraye, Ph.

    2006-01-01

    During the post-genomic era, significant advances in our understanding of the molecular basis of disease have been made. The power of functional and molecular imaging in translating this knowledge into effective therapy is now being more and more recognized. Thus, molecular imaging plays a vital role in the early identification of disease-related molecular markers, in the development of molecular-targeted therapies, and in monitoring phenotypic response to therapy both in experimental animals and in human patients. In this context, MIRCen (acronym for Molecular Imaging Research Center ) provides a comprehensive resource available to empower basic, translational, and clinical research through the application of imaging and drug, cell, and gene based technologies. The MIR center will be dedicated to the development of pre-clinical trials for the treatment of various seriously debilitating diseases such as neuro-degenerative diseases, cardiac and hepatic disorders, and infectious diseases (AIDS). Despite the fact that many of these pathologies are still incurable, recent advances in drug, cell and gene therapy point to the feasibility of new therapeutic approaches. The long term goals of MIRCen are therefore to develop and validate: - pertinent animal models for neuro-degenerative, hepatic, cardiac and infectious diseases in rodents as well as non-human primates, - novel technologies for in vivo sensing and imaging of disease-related molecular events,- drug, gene and cell based palliative and or curative therapeutic strategies aiming at protecting and /or restoring damaged or lost functions. (author)

  14. Evolutionary Conservation in Genes Underlying Human Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Lisa Michelle Ogawa

    2014-05-01

    Full Text Available Many psychiatric diseases observed in humans have tenuous or absent analogs in other species. Most notable among these are schizophrenia and autism. One hypothesis has posited that these diseases have arisen as a consequence of human brain evolution, for example, that the same processes that led to advances in cognition, language, and executive function also resulted in novel diseases in humans when dysfunctional. Here, the molecular evolution of genes associated with these and other psychiatric disorders are compared among species. Genes associated with psychiatric disorders are drawn from the literature and orthologous sequences are collected from eleven primate species (human, chimpanzee, bonobo, gorilla, orangutan, gibbon, macaque, baboon, marmoset, squirrel monkey, and galago and thirty one non-primate mammalian species. Evolutionary parameters, including dN/dS, are calculated for each gene and compared between disease classes and among species, focusing on humans and primates compared to other mammals and on large-brained taxa (cetaceans, rhinoceros, walrus, bear, and elephant compared to their small-brained sister species. Evidence of differential selection in primates supports the hypothesis that schizophrenia and autism are a cost of higher brain function. Through this work a better understanding of the molecular evolution of the human brain, the pathophysiology of disease, and the genetic basis of human psychiatric disease is gained.

  15. Fatal degenerative neurologic illnesses in men who participated in wild game feasts--Wisconsin, 2002.

    Science.gov (United States)

    2003-02-21

    Creutzfeldt-Jakob disease (CJD) is a fatal neurologic disorder in humans. CJD is one of a group of conditions known as transmissible spongiform encephalopathies (TSEs), or prion diseases, that are believed to be caused by abnormally configured, host-encoded prion proteins that accumulate in the central nervous tissue. CJD has an annual incidence of approximately 1 case per million population in the United States and occurs in three forms: sporadic, genetically determined, and acquired by infection. In the latter form, the incubation period is measured typically in years. Recent evidence that prion infection can cross the species barrier between humans and cattle has raised increasing public health concerns about the possible transmission to humans of a TSE among deer and elk known as chronic wasting disease (CWD). During 1993-1999, three men who participated in wild game feasts in northern Wisconsin died of degenerative neurologic illnesses. This report documents the investigation of these deaths, which was initiated in August 2002 and which confirmed the death of only one person from CJD. Although no association between CWD and CJD was found, continued surveillance of both diseases remains important to assess the possible risk for CWD transmission to humans.

  16. Precocious Degenerative Arthropathy And Bluish Patches On Ears : Ochronosis And Alkaptonuria

    Directory of Open Access Journals (Sweden)

    Mahajan Vikram K

    2004-01-01

    Full Text Available Alkaptonuria is a rare, autosomal recessive disorder of phenylalanin/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. The diagnosis is clinical and the triad of homogentisic aciduria, ochronosis and precocious degenerative arthritis is characteristic. Its diagnosis in infancy and early therapeutic intervention help delaying its complications. These patients may remain undiagnosed until the darkening of urine soaked diapers is noticed or the early degenerative arthropathy develops. This paper describes two cases of alkaptonuria presenting late in life; one of them had associated hyperthyroidism.

  17. Hereditary familial vestibular degenerative diseases.

    NARCIS (Netherlands)

    Sun, J.; Alphen, A.M. van; Wagenaar, M.; Huygen, P.L.M.; Hoogenraad, C.C.; Hasson, T.; Koekkoek, S.K.; Bohne, B.A.; Zeeuw, C.I. de

    2001-01-01

    Identification of genes involved in hereditary vestibular disease is growing at a remarkable pace. Mutant mouse technology can be an important tool for understanding the biological mechanism of human vestibular diseases.

  18. Plant Polyphenolic Antioxidants in Management of Chronic Degenerative Diseases

    Directory of Open Access Journals (Sweden)

    R.K. Das

    2017-12-01

    Full Text Available With the over growing global population, degenerative diseases are on rise, despite using modern medicine for its cure. People prefer alternative systems of medicine like natural therapy and polyherbal therapy due to adverse effects of allopathic medication. According to W.H.O. report about 70% of world population relying on natural plant-based therapy. For a suitable, sustainable and cost effective cure use of polyphenolic natural antioxidants may be an appropriate tool. Now a day’s most food and pharmaceutical products contain synthetic antioxidants. But recent data indicating that, long term use of synthetic antioxidants could have carcinogenic effects on human cells. Thus, search for new natural and efficient antioxidants is need of the hour. Phenolic compounds (polyphenols are products of secondary metabolites and constitute one of the most widely distributed groups of substance in plant kingdom with more than 10,000 phenolic structures. Polyphenols are structurally characterized by the presence of one or more aromatic benzene ring compounds with one or more functional hydroxyl groups. Polyphenols are naturally occurring and most abundant antioxidants in human diets found largely in the fruits, vegetables and beverages. Plant flavonoids are the largest and best studied class of polyphenols which include more than 4000 compounds. Numerous studies confirm that, flavonoids exert a protective action on human health and are key components of a healthy and balanced diet. Epidemiological studies and associated meta-analysis correlate and strongly   suggest that, long term consumption of diets rich in plant flavonoids offer protection against development of chronic and degenerative diseases, such as cardiovascular diseases , diabetes , cancer, osteoporosis and neurodegenerative diseases. One of the main reasons for the age related diseases is linked with reduction in cellular oxidative stress. The involvement of reactive oxygen species (ROS in

  19. Radiographical analysis concernig the etiology of degenerative spondylolisthesis of the lumbar spine

    International Nuclear Information System (INIS)

    Ihara, Koichiro

    1989-01-01

    The purpose of this article is to evaluate radiographically degenerative spondylolisthesis of the lumbar spine, with the main focus on the configuration of posterior elements. A comparative study between 49 cases of degenerative spondylolisthesis and 99 cases of other lumbar disorders was performed, using 13 radiographical parameters. The results clearly indicate the posterior elements of degenerative spondylolisthesis shifted horizontally and sagittally to allow slipping. This was due to the weak bony hook mechanism. Furthermore, almost all facet joints were morphologically classified as sagittal or intermediate type. Another meaningful difference was the alignment of the lumbar spine which showed an increase in both lordosis and lumbosacral angle. On the other hand, the level of Jacoby's line was almost the same in both groups. These characteristic configurations could be the cause of listhesis, although further study should be carried out to elucidate whether they are present at the non-listhetic stage. (author)

  20. Radiographical analysis concernig the etiology of degenerative spondylolisthesis of the lumbar spine

    Energy Technology Data Exchange (ETDEWEB)

    Ihara, Koichiro [Yamaguchi Univ., Ube (Japan). School of Medicine

    1989-12-01

    The purpose of this article is to evaluate radiographically degenerative spondylolisthesis of the lumbar spine, with the main focus on the configuration of posterior elements. A comparative study between 49 cases of degenerative spondylolisthesis and 99 cases of other lumbar disorders was performed, using 13 radiographical parameters. The results clearly indicate the posterior elements of degenerative spondylolisthesis shifted horizontally and sagittally to allow slipping. This was due to the weak bony hook mechanism. Furthermore, almost all facet joints were morphologically classified as sagittal or intermediate type. Another meaningful difference was the alignment of the lumbar spine which showed an increase in both lordosis and lumbosacral angle. On the other hand, the level of Jacoby's line was almost the same in both groups. These characteristic configurations could be the cause of listhesis, although further study should be carried out to elucidate whether they are present at the non-listhetic stage. (author).

  1. Radiographical analysis concernig the etiology of degenerative spondylolisthesis of the lumbar spine

    Energy Technology Data Exchange (ETDEWEB)

    Ihara, Koichiro (Yamaguchi Univ., Ube (Japan). School of Medicine)

    1989-12-01

    The purpose of this article is to evaluate radiographically degenerative spondylolisthesis of the lumbar spine, with the main focus on the configuration of posterior elements. A comparative study between 49 cases of degenerative spondylolisthesis and 99 cases of other lumbar disorders was performed, using 13 radiographical parameters. The results clearly indicate the posterior elements of degenerative spondylolisthesis shifted horizontally and sagittally to allow slipping. This was due to the weak bony hook mechanism. Furthermore, almost all facet joints were morphologically classified as sagittal or intermediate type. Another meaningful difference was the alignment of the lumbar spine which showed an increase in both lordosis and lumbosacral angle. On the other hand, the level of Jacoby's line was almost the same in both groups. These characteristic configurations could be the cause of listhesis, although further study should be carried out to elucidate whether they are present at the non-listhetic stage. (author).

  2. Novel Insights into Acid-Sensing Ion Channels: Implications for Degenerative Diseases.

    Science.gov (United States)

    Zhou, Ren-Peng; Wu, Xiao-Shan; Wang, Zhi-Sen; Xie, Ya-Ya; Ge, Jin-Fang; Chen, Fei-Hu

    2016-08-01

    Degenerative diseases often strike older adults and are characterized by progressive deterioration of cells, eventually leading to tissue and organ degeneration for which limited effective treatment options are currently available. Acid-sensing ion channels (ASICs), a family of extracellular H(+)-activated ligand-gated ion channels, play critical roles in physiological and pathological conditions. Aberrant activation of ASICs is reported to regulate cell apoptosis, differentiation and autophagy. Accumulating evidence has highlighted a dramatic increase and activation of ASICs in degenerative disorders, including multiple sclerosis, Parkinson's disease, Huntington's disease, intervertebral disc degeneration and arthritis. In this review, we have comprehensively discussed the critical roles of ASICs and their potential utility as therapeutic targets in degenerative diseases.

  3. Brain monoamine oxidase B and A in human parkinsonian dopamine deficiency disorders.

    Science.gov (United States)

    Tong, Junchao; Rathitharan, Gausiha; Meyer, Jeffrey H; Furukawa, Yoshiaki; Ang, Lee-Cyn; Boileau, Isabelle; Guttman, Mark; Hornykiewicz, Oleh; Kish, Stephen J

    2017-09-01

    See Jellinger (doi:10.1093/awx190) for a scientific commentary on this article. The enzyme monoamine oxidases (B and A subtypes, encoded by MAOB and MAOA, respectively) are drug targets in the treatment of Parkinson's disease. Inhibitors of MAOB are used clinically in Parkinson's disease for symptomatic purposes whereas the potential disease-modifying effect of monoamine oxidase inhibitors is debated. As astroglial cells express high levels of MAOB, the enzyme has been proposed as a brain imaging marker of astrogliosis, a cellular process possibly involved in Parkinson's disease pathogenesis as elevation of MAOB in astrocytes might be harmful. Since brain monoamine oxidase status in Parkinson's disease is uncertain, our objective was to measure, by quantitative immunoblotting in autopsied brain homogenates, protein levels of both monoamine oxidases in three different degenerative parkinsonian disorders: Parkinson's disease (n = 11), multiple system atrophy (n = 11), and progressive supranuclear palsy (n = 16) and in matched controls (n = 16). We hypothesized that if MAOB is 'substantially' localized to astroglial cells, MAOB levels should be generally associated with standard astroglial protein measures (e.g. glial fibrillary acidic protein). MAOB levels were increased in degenerating putamen (+83%) and substantia nigra (+10%, non-significant) in multiple system atrophy; in caudate (+26%), putamen (+27%), frontal cortex (+31%) and substantia nigra (+23%) of progressive supranuclear palsy; and in frontal cortex (+33%), but not in substantia nigra of Parkinson's disease, a region we previously reported no increase in astrocyte protein markers. Although the magnitude of MAOB increase was less than those of standard astrocytic markers, significant positive correlations were observed amongst the astrocyte proteins and MAOB. Despite suggestions that MAOA (versus MAOB) is primarily responsible for metabolism of dopamine in dopamine neurons, there was no loss of the

  4. Postoperative braces for degenerative lumbar diseases

    NARCIS (Netherlands)

    Machado, Andre N.; Ayala, Ana Patricia; Rubinstein, Sidney M.; El Dib, Regina; Rodrigues, Luciano M.; Gotfryd, Alberto Ofenhejm; Tamaoki, Marcel Jun; Belloti, João Carlos

    2017-01-01

    This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: The primary objective is to evaluate the effectiveness of orthosis following lumbar spinal surgery for people with degenerative disease on pain reduction and improvement of functional status. Secondary objectives

  5. D-penicillamine induced degenerative dermopathy

    Directory of Open Access Journals (Sweden)

    Sujay Khandpur

    2015-01-01

    Full Text Available D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson′s disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy manifesting as skin fragility over pressure sites and cutis laxa-like changes.

  6. Cartilage repair in the degenerative ageing knee

    Science.gov (United States)

    Brittberg, Mats; Gomoll, Andreas H; Canseco, José A; Far, Jack; Lind, Martin; Hui, James

    2016-01-01

    Background and purpose Cartilage damage can develop due to trauma, resulting in focal chondral or osteochondral defects, or as more diffuse loss of cartilage in a generalized organ disease such as osteoarthritis. A loss of cartilage function and quality is also seen with increasing age. There is a spectrum of diseases ranging from focal cartilage defects with healthy surrounding cartilage to focal lesions in degenerative cartilage, to multiple and diffuse lesions in osteoarthritic cartilage. At the recent Aarhus Regenerative Orthopaedics Symposium (AROS) 2015, regenerative challenges in an ageing population were discussed by clinicians and basic scientists. A group of clinicians was given the task of discussing the role of tissue engineering in the treatment of degenerative cartilage lesions in ageing patients. We present the outcomes of our discussions on current treatment options for such lesions, with particular emphasis on different biological repair techniques and their supporting level of evidence. Results and interpretation Based on the studies on treatment of degenerative lesions and early OA, there is low-level evidence to suggest that cartilage repair is a possible treatment for such lesions, but there are conflicting results regarding the effect of advanced age on the outcome. We concluded that further improvements are needed for direct repair of focal, purely traumatic defects before we can routinely use such repair techniques for the more challenging degenerative lesions. Furthermore, we need to identify trigger mechanisms that start generalized loss of cartilage matrix, and induce subchondral bone changes and concomitant synovial pathology, to maximize our treatment methods for biological repair in degenerative ageing joints. PMID:27910738

  7. Evaluation of serum cytokines in cats with and without degenerative joint disease and associated pain.

    Science.gov (United States)

    Gruen, Margaret E; Messenger, Kristen M; Thomson, Andrea E; Griffith, Emily H; Aldrich, Lauren A; Vaden, Shelly; Lascelles, B Duncan X

    2017-01-01

    Degenerative joint disease is common in cats, with signs of pain frequently found on orthopedic examination and radiographs often showing evidence of disease. However, understanding of the pathophysiology of degenerative joint disease and associated pain remains limited. Several cytokines have been identified as having a role in pain in humans, but this has not been investigated in cats. The present study was performed to use a multiplex platform to evaluate the concentration of 19 cytokines and chemokines in serum samples obtained from cats with and without degenerative joint disease and associated pain. Samples from a total of 186 cats were analyzed, with cats representing a range of severity on radiographic and orthopedic evaluations and categorized by degenerative joint disease scores and pain scores. Results showed that cats with higher radiographic degenerative joint disease scores have higher serum concentrations of IL-4 and IL-8, while cats with higher orthopedic exam pain scores have higher concentrations of IL-8, IL-2, and TNF-α; increased concentration of IL-8 in degenerative joint disease and pain may be confounded by the association with age. Discriminant analysis was unable to identify one or more cytokines that distinguish between groups of cats classified based on degenerative joint disease score category or pain score category. Finally, cluster analysis driven by analyte concentrations shows separation of groups of cats, but features defining the groups remain unknown. Further studies are warranted to investigate any changes in cytokine concentrations in response to analgesic therapies, and further evaluate the elevations in cytokine concentrations found here, particularly focused on studies of local cytokines present in synovial fluid. Copyright © 2016 Elsevier B.V. All rights reserved.

  8. Acquired degenerative changes of the intervertebral segments at and suprajacent to the lumbosacral junction. A radioanatomic analysis of the nondiskal structures of the spinal column and perispinal soft tissues.

    Science.gov (United States)

    Jinkins, J R

    2001-01-01

    In earlier evolutionary times, mammals were primarily quadrupeds. However, other bipeds have also been represented during the course of the Earth's several billion year history. In many cases, either the bipedal stance yielded a large tail and hypoplastic upper extremities (e.g., Tyrannosaurus rex and the kangaroo), or it culminated in hypoplasia of the tail and further development and specialization of the upper extremities (e.g., nonhuman primates and human beings). In the human species this relatively recently acquired posture resulted in a more or less pronounced lumbosacral kyphosis. In turn, certain compensatory anatomic features have since occurred. These include the normal characteristic posteriorly directed wedge-shape of the L5 vertebral body and the L5-S1 intervertebral disk; the L4 vertebral body and the L4-L5 disk may be similarly visibly affected. These compensatory mechanisms, however, have proved to be functionally inadequate over the long term of the human life span. Upright posture also leads to increased weight bearing in humans that progressively causes excess stresses at and suprajacent to the lumbosacral junction. These combined factors result in accelerated aging and degenerative changes and a predisposition to frank biomechanical failure of the subcomponents of the spinal column in these spinal segments. One other specific problem that occurs at the lumbosacral junction that predisposes toward premature degeneration is the singular relationship that exists between a normally mobile segment of spine (i.e., the lumbar spine) and a normally immobile one (i.e., the sacrum). It is well known that mobile spinal segments adjacent to congenitally or acquired fused segments have a predilection toward accelerated degenerative changes. The only segment of the spine in which this is invariably normally true is at the lumbosacral junction (i.e., the unfused lumbar spine adjoining the fused sacrum). Nevertheless, biomechanical failures of the human spine

  9. Neuro degenerative diseases: clinical concerns; Les maladies neuro-degeneratives: problemes cliniques

    Energy Technology Data Exchange (ETDEWEB)

    Ibanez, V. [Hopitaux Universitaires de Geneve (HUG), Unite de Neuroimagerie, Dept. de Psychiatrie (Switzerland)

    2005-04-15

    Idiopathic Parkinson's disease (PD) and Alzheimer's disease (AD) are the main neuro-degenerative diseases (NDDs) seen clinically. They share some common clinical symptoms and neuro-pathological findings. The increase of life expectancy in the developed countries will inevitably contribute to enhance the prevalence of these diseases. Behavioral disorders, common in NDDs, will produce major care management challenges. Idiopathic Parkinson's disease corresponds to a histopathological diagnosis, based on the observation of a de-pigmentation and a neuronal loss in the substantia nigra, as well as on the presence of intra-neuronal inclusion bodies. AD is insidious with slowly progressive dementia in which the decline in memory constitutes the main complaint. The diagnosis of definite AD requires the presence of clinical criteria as well as the histopathological confirmation of brain lesions. The two main lesions are the presence of senile plaques and neuro-fibrillary tangles. Positron emission tomography (PET) explores cerebral metabolism and neurotransmitter kinetics in NDDs using principally [{sup 18}F]-deoxyglucose and [{sup 18}F]-dopa. Nigrostriatal dopaminergic function is altered in PD, as evidenced by the low uptake of [{sup 18}F]-dopa in the posterior putamen as compared to anterior putamen and caudate nucleus. In contrast, [{sup 18}F]-dopa uptake is equally depressed in all striatal structures in progressive supra-nuclear palsy. Regional glucose metabolism at rest is preserved in elderly once cerebral atrophy is taken into account. On the contrary, glucose metabolism is globally reduced in AD, with marked decrease in the parietal and temporal regions. PET has proved to be useful to study in vivo neurochemical processes in patients suffering from NDDs. The potential of this approach is still largely unexploited, and depends on new ligand production to establish early diagnosis and treatment follow-up. (author)

  10. Cerebral atrophic and degenerative changes following various cerebral diseases, (1)

    International Nuclear Information System (INIS)

    Kino, Masao; Anno, Izumi; Yano, Yuhiko; Anno, Yasuro.

    1980-01-01

    Patients having cerebral atrophic and degenerative changes following hypoglycemia, cerebral contusion, or cerebral hypoxia including cerebrovascular disorders were reported. Description was made as to cerebral changes visualized on CT images and clinical courses of a patient who revived 10 minutes after heart stoppage during neurosurgery, a newborn with asphyxia, a patient with hypoglycemia, a patient who suffered from asphyxia by an accident 10 years before, a patient with carbon monoxide poisoning at an acute stage, a patient who had carbon monoxide poisoning 10 years before, a patient with diffuse cerebral ischemic changes, a patient with cerebral edema around metastatic tumor, a patient with respiration brain, a patient with neurological sequelae after cerebral contusion, a patient who had an operation to excise right parietal lobe artery malformation, and a patient who was shooted by a machine gun and had a lead in the brain for 34 years. (Tsunoda, M.)

  11. Complement, a target for therapy in inflammatory and degenerative diseases.

    Science.gov (United States)

    Morgan, B Paul; Harris, Claire L

    2015-12-01

    The complement system is a key innate immune defence against infection and an important driver of inflammation; however, these very properties can also cause harm. Inappropriate or uncontrolled activation of complement can cause local and/or systemic inflammation, tissue damage and disease. Complement provides numerous options for drug development as it is a proteolytic cascade that involves nine specific proteases, unique multimolecular activation and lytic complexes, an arsenal of natural inhibitors, and numerous receptors that bind to activation fragments. Drug design is facilitated by the increasingly detailed structural understanding of the molecules involved in the complement system. Only two anti-complement drugs are currently on the market, but many more are being developed for diseases that include infectious, inflammatory, degenerative, traumatic and neoplastic disorders. In this Review, we describe the history, current landscape and future directions for anti-complement therapies.

  12. Degenerative Pathways of Lumbar Motion Segments

    DEFF Research Database (Denmark)

    Jensen, Rikke K.; Kjaer, Per; Jensen, Tue S.

    2016-01-01

    pathways of degeneration based on scientific knowledge of disco-vertebral degeneration, and (iii) compare these clusters and degenerative pathways between samples. METHODS: We performed a secondary cross-sectional analysis on two dissimilar MRI samples collected in a hospital department: (1) data from...... pathways of degeneration. RESULTS: Six clusters of MRI findings were identified in each of the two samples. The content of the clusters in the two samples displayed some differences but had the same overall pattern of MRI findings. Although the hypothetical degenerative pathways identified in the two...... samples were not identical, the overall pattern of increasing degeneration within the pathways was the same. CONCLUSIONS: It was expected that different clusters could emerge from different samples, however, when organised into hypothetical pathways of degeneration, the overall pattern of increasing...

  13. Is running associated with degenerative joint disease?

    International Nuclear Information System (INIS)

    Panush, R.S.; Schmidt, C.; Caldwell, J.R.

    1986-01-01

    Little information is available regarding the long-term effects, if any, of running on the musculoskeletal system. The authors compared the prevalence of degenerative joint disease among 17 male runners with 18 male nonrunners. Running subjects (53% marathoners) ran a mean of 44.8 km (28 miles)/wk for 12 years. Pain and swelling of hips, knees, ankles and feet and other musculoskeletal complaints among runners were comparable with those among nonrunners. Radiologic examinations (for osteophytes, cartilage thickness, and grade of degeneration) also were without notable differences among groups. They did not find an increased prevalence of osteoarthritis among the runners. Our observations suggest that long-duration, high-mileage running need to be associated with premature degenerative joint disease in the lower extremities

  14. MR imaging of degenerative disc disease

    International Nuclear Information System (INIS)

    Farshad-Amacker, Nadja A.; Farshad, Mazda; Winklehner, Anna; Andreisek, Gustav

    2015-01-01

    Highlights: • This systematic literature review summarizes the current knowledge on MR imaging in degenerative disc disease. • Different classification systems for segmental spine degeneration are summarized. • It outlines the diagnostic limitations of MR imaging. - Abstract: Magnet resonance imaging (MRI) is the most commonly used imaging modality for diagnosis of degenerative disc disease (DDD). Lack of precise observations and documentation of aspects within the complex entity of DDD might partially be the cause of poor correlation of radiographic findings to clinical symptoms. This literature review summarizes the current knowledge on MRI in DDD and outlines the diagnostic limitations. The review further sensitizes the reader toward awareness of potentially untended aspects of DDD and the interaction of DDD and endplate changes. A summary of the available classifications for DDD is provided

  15. MR imaging of degenerative disc disease

    Energy Technology Data Exchange (ETDEWEB)

    Farshad-Amacker, Nadja A., E-mail: nadja.farshad@usz.ch [Institute of Diagnostic and Interventional Radiology, University Hospital of Zurich, Zurich (Switzerland); Farshad, Mazda [Department of Orthopaedic Surgery, Balgrist University Hospital, Zurich (Switzerland); Winklehner, Anna; Andreisek, Gustav [Institute of Diagnostic and Interventional Radiology, University Hospital of Zurich, Zurich (Switzerland)

    2015-09-15

    Highlights: • This systematic literature review summarizes the current knowledge on MR imaging in degenerative disc disease. • Different classification systems for segmental spine degeneration are summarized. • It outlines the diagnostic limitations of MR imaging. - Abstract: Magnet resonance imaging (MRI) is the most commonly used imaging modality for diagnosis of degenerative disc disease (DDD). Lack of precise observations and documentation of aspects within the complex entity of DDD might partially be the cause of poor correlation of radiographic findings to clinical symptoms. This literature review summarizes the current knowledge on MRI in DDD and outlines the diagnostic limitations. The review further sensitizes the reader toward awareness of potentially untended aspects of DDD and the interaction of DDD and endplate changes. A summary of the available classifications for DDD is provided.

  16. Nanotechnology and nanocarrier-based approaches on treatment of degenerative diseases

    Science.gov (United States)

    Chowdhury, Anindita; Kunjiappan, Selvaraj; Panneerselvam, Theivendren; Somasundaram, Balasubramanian; Bhattacharjee, Chiranjib

    2017-04-01

    Degenerative diseases are results of deterioration of cells and tissues with aging either by unhealthy lifestyle or normal senescence. The degenerative disease likely affects central nervous system and cardiovascular system to a great extent. Certain medications and therapies have emerged for the treatment of degenerative diseases, but in most cases bearing with poor solubility, lower bioavailability, drug resistance, and incapability to cross the blood-brain barrier (BBB). Hence, it has to be overcome with conventional treatment system; in this connection, nanotechnology has gained a great deal of interest in recent years. Moreover, nanotechnology and nanocarrier-based approach drug delivery system could revolutionize the treatment of degenerative diseases by faster absorption of drug, targeted interaction at specific site, and its release in a controlled manner into human body with minimal side effects. The core objective of this review is to customize and formulate therapeutically active molecules with specific site of action and without affecting other organs and tissues to obtain effective result in the improvement of quality of health. In addition, the review provides a concise insight into the recent developments and applications of nanotech and nanocarrier-based drug delivery for the treatment of various degenerative diseases.

  17. Radiation treatment of painful degenerative skeletal conditions

    International Nuclear Information System (INIS)

    Schaefer, U.; Micke, O.; Willich, N.

    1996-01-01

    The study reported was intended to present own experience with irradiation for treatment of painful degenerative skeletal conditions and examine the long-term effects of this treatment. A retrospective study was performed covering the period from 1985 until 1991, examining 157 patients suffering from painful degenerative skeletal conditions who entered information on the success of their radiation treatment in a questionnaire. 94 of the questionnaires could be used for evaluation. Pain anamnesis revealed periods of more than one year in 45% of the cases. 74% of the patients had been treated without success with drug or orthopedic therapy. Immediately after termination of the radiotherapy, 38% of the patients said to be free of pain or to feel essentially relieved, while at the time the questionnaire was distributed, the percentage was 76%. Thus in our patient material, radiotherapy for treatment of painful degenerative skeletal lesions was successful in 76% of the cases and for long post-treatment periods, including those cases whith long pain anamnesis and unsuccessful conventional pre-treatment. (orig./MG) [de

  18. Modeling human neurological disorders with induced pluripotent stem cells.

    Science.gov (United States)

    Imaizumi, Yoichi; Okano, Hideyuki

    2014-05-01

    Human induced pluripotent stem (iPS) cells obtained by reprogramming technology are a source of great hope, not only in terms of applications in regenerative medicine, such as cell transplantation therapy, but also for modeling human diseases and new drug development. In particular, the production of iPS cells from the somatic cells of patients with intractable diseases and their subsequent differentiation into cells at affected sites (e.g., neurons, cardiomyocytes, hepatocytes, and myocytes) has permitted the in vitro construction of disease models that contain patient-specific genetic information. For example, disease-specific iPS cells have been established from patients with neuropsychiatric disorders, including schizophrenia and autism, as well as from those with neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. A multi-omics analysis of neural cells originating from patient-derived iPS cells may thus enable investigators to elucidate the pathogenic mechanisms of neurological diseases that have heretofore been unknown. In addition, large-scale screening of chemical libraries with disease-specific iPS cells is currently underway and is expected to lead to new drug discovery. Accordingly, this review outlines the progress made via the use of patient-derived iPS cells toward the modeling of neurological disorders, the testing of existing drugs, and the discovery of new drugs. The production of human induced pluripotent stem (iPS) cells from the patients' somatic cells and their subsequent differentiation into specific cells have permitted the in vitro construction of disease models that contain patient-specific genetic information. Furthermore, innovations of gene-editing technologies on iPS cells are enabling new approaches for illuminating the pathogenic mechanisms of human diseases. In this review article, we outlined the current status of neurological diseases-specific iPS cell research and described recently obtained

  19. STATISTICAL INSIGHT INTO THE BINDING REGIONS IN DISORDERED HUMAN PROTEOME

    Directory of Open Access Journals (Sweden)

    Uttam Pal

    2016-03-01

    Full Text Available The human proteome contains a significant number of intrinsically disordered proteins (IDPs. They show unusual structural features that enable them to participate in diverse cellular functions and play significant roles in cell signaling and reorganization processes. In addition, the actions of IDPs, their functional cooperativity, conformational alterations and folding often accompany binding to a target macromolecule. Applying bioinformatics approaches and with the aid of statistical methodologies, we investigated the statistical parameters of binding regions (BRs found in disordered human proteome. In this report, we detailed the bioinformatics analysis of binding regions found in the IDPs. Statistical models for the occurrence of BRs, their length distribution and percent occupancy in the parent proteins are shown. The frequency of BRs followed a Poisson distribution pattern with increasing expectancy with the degree of disorderedness. The length of the individual BRs also followed Poisson distribution with a mean of 6 residues, whereas, percentage of residues in BR showed a normal distribution pattern. We also explored the physicochemical properties such as the grand average of hydropathy (GRAVY and the theoretical isoelectric points (pIs. The theoretical pIs of the BRs followed a bimodal distribution as in the parent proteins. However, the mean acidic/basic pIs were significantly lower/higher than that of the proteins, respectively. We further showed that the amino acid composition of BRs was enriched in hydrophobic residues such as Ala, Val, Ile, Leu and Phe compared to the average sequence content of the proteins. Sequences in a BR showed conformational adaptability mostly towards flexible coil structure and followed by helix, however, the ordered secondary structural conformation was significantly lower in BRs than the proteins. Combining and comparing these statistical information of BRs with other methods may be useful for high

  20. Candidate gene investigation of spinal degenerative osteoarthritis in Greek population.

    Science.gov (United States)

    Liva, Eleni; Panagiotou, Irene; Palikyras, Spyros; Parpa, Efi; Tsilika, Eleni; Paschou, Peristera; Mystakidou, Kyriaki

    2017-12-01

    Few data exist concerning the natural history of degenerative osteoarthritis (OA) of the spine and its associated gene investigation. Degenerative spinal OA demonstrates an international prevalence of 15% in the general population. The aim of this Greek case-control study is to examine gene polymorphisms that have been previously shown or hypothesized to be correlated to degenerative OA. Gene polymorphisms, especially for OA, have never been previously studied in the Greek population. The study was conducted from May 2009 to December 2012. Eligible subjects who agreed to take part in the study were Greek adults from all of Greece, referred for consultation to the Palliative Care and Pain Relief Unit of Aretaieion University Hospital, in Athens, Greece. A total of 601 matched pairs (cases and controls) participated in the study, 258 patients (188 women and 70 men) with clinically and radiologically confirmed degenerative OA and 243 control subjects (138 women and 105 men). All patients presented with chronic pain at the spine (cervical, thoracic or lumbar) caused by sympomatic osteophytes or disc narrowing, whereas clinical diagnosis of OA was based on the presence of both joint symptoms and evidence of structural changes seen on plain conventional X-rays. We investigated genetic variation across candidate OA gene GDF5, CDMP1, CDMP2, Asporin, SMAD3, and chromosomal region 7q22, in a sample of 258 patients with clinically and radiologically confirmed degenerative OA, and 243 control subjects from the Greek population. All subjects (patients and controls) were subsequently matched for the epidemiologic, demographic, and clinical risk factors, to prevent selection biases. A tagging single nucleotide polymorphism (SNP) approach was pursued to cover variation across all targeted loci. Single marker tests as well as haplotypic tests of association were performed. There is no conflict of interest, and also, there are no study funding sources. We found significant

  1. Clinical outcomes of two minimally invasive transforaminal lumbar interbody fusion (TLIF) for lumbar degenerative diseases.

    Science.gov (United States)

    Tian, Yonghao; Liu, Xinyu

    2016-10-01

    There are two modified TLIF, including MIS-TLIF and TLIF through Wiltse approach (W-TLIF). Although both of the two minimally invasive surgical procedures can be effective in the treatment for lumbar degenerative diseases, no comparative analysis has been made so far regarding their clinical outcomes. To compare the clinical outcomes of MIS-TLIF and W-TLIF for the treatment for single-segment degenerative lumbar diseases. Ninety-seven patients with single-segment degenerative lumbar disorders were included in this study. Forty-seven underwent MIS-TLIF surgery (group A). For group B, fifty patients underwent W-TLIF. The Japanese Orthopedic Association (JOA) score, the visual analog scale (VAS) of low back pain (LBP) and leg pain, MRI score and atrophy rate of CSA, interbody fusion rate were assessed during the postoperative follow-up. Incision length, blood loss, operative time, CPK, and postoperative incision pain VAS were better in group A (P degenerative disease. MIS-TLIF has less blood loss, shorter surgical incision, and less lower postoperative back pain, while W-TLIF is less expensive for hospital stay with lower exposure to X-rays.

  2. A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine

    Science.gov (United States)

    Wallace, Douglas C.

    2005-01-01

    Life is the interplay between structure and energy, yet the role of energy deficiency in human disease has been poorly explored by modern medicine. Since the mitochondria use oxidative phosphorylation (OXPHOS) to convert dietary calories into usable energy, generating reactive oxygen species (ROS) as a toxic by-product, I hypothesize that mitochondrial dysfunction plays a central role in a wide range of age-related disorders and various forms of cancer. Because mitochondrial DNA (mtDNA) is present in thousands of copies per cell and encodes essential genes for energy production, I propose that the delayed-onset and progressive course of the age-related diseases results from the accumulation of somatic mutations in the mtDNAs of post-mitotic tissues. The tissue-specific manifestations of these diseases may result from the varying energetic roles and needs of the different tissues. The variation in the individual and regional predisposition to degenerative diseases and cancer may result from the interaction of modern dietary caloric intake and ancient mitochondrial genetic polymorphisms. Therefore the mitochondria provide a direct link between our environment and our genes and the mtDNA variants that permitted our forbears to energetically adapt to their ancestral homes are influencing our health today. PMID:16285865

  3. Simple versus complex degenerative mitral valve disease.

    Science.gov (United States)

    Javadikasgari, Hoda; Mihaljevic, Tomislav; Suri, Rakesh M; Svensson, Lars G; Navia, Jose L; Wang, Robert Z; Tappuni, Bassman; Lowry, Ashley M; McCurry, Kenneth R; Blackstone, Eugene H; Desai, Milind Y; Mick, Stephanie L; Gillinov, A Marc

    2018-07-01

    At a center where surgeons favor mitral valve (MV) repair for all subsets of leaflet prolapse, we compared results of patients undergoing repair for simple versus complex degenerative MV disease. From January 1985 to January 2016, 6153 patients underwent primary isolated MV repair for degenerative disease, 3101 patients underwent primary isolated MV repair for simple disease (posterior prolapse), and 3052 patients underwent primary isolated MV repair for complex disease (anterior or bileaflet prolapse), based on preoperative echocardiographic images. Logistic regression analysis was used to generate propensity scores for risk-adjusted comparisons (n = 2065 matched pairs). Durability was assessed by longitudinal recurrence of mitral regurgitation and reoperation. Compared with patients with simple disease, those undergoing repair of complex pathology were more likely to be younger and female (both P values < .0001) but with similar symptoms (P = .3). The most common repair technique was ring/band annuloplasty (3055/99% simple vs 3000/98% complex; P = .5), followed by leaflet resection (2802/90% simple vs 2249/74% complex; P < .0001). Among propensity-matched patients, recurrence of severe mitral regurgitation 10 years after repair was 6.2% for simple pathology versus 11% for complex pathology (P = .007), reoperation at 18 years was 6.3% for simple pathology versus 11% for complex pathology, and 20-year survival was 62% for simple pathology versus 61% for complex pathology (P = .6). Early surgical intervention has become more common in patients with degenerative MV disease, regardless of valve prolapse complexity or symptom status. Valve repair was associated with similarly low operative risk and time-related survival but less durability in complex disease. Lifelong annual echocardiographic surveillance after MV repair is recommended, particularly in patients with complex disease. Copyright © 2018 The American Association for Thoracic Surgery

  4. Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

    Directory of Open Access Journals (Sweden)

    Shuji Mizumoto

    2014-01-01

    Full Text Available Glycosaminoglycans (GAGs are constructed through the stepwise addition of respective monosaccharides by various glycosyltransferases and maturated by epimerases and sulfotransferases. The structural diversity of GAG polysaccharides, including their sulfation patterns and sequential arrangements, is essential for a wide range of biological activities such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Studies using knockout mice of enzymes responsible for the biosynthesis of the GAG side chains of proteoglycans have revealed their physiological functions. Furthermore, mutations in the human genes encoding glycosyltransferases, sulfotransferases, and related enzymes responsible for the biosynthesis of GAGs cause a number of genetic disorders including chondrodysplasia, spondyloepiphyseal dysplasia, and Ehlers-Danlos syndromes. This review focused on the increasing number of glycobiological studies on knockout mice and genetic diseases caused by disturbances in the biosynthetic enzymes for GAGs.

  5. [Degenerative lesions of the peripheral retina].

    Science.gov (United States)

    Conart, J-B; Baron, D; Berrod, J-P

    2014-01-01

    Degenerative lesions of the peripheral retina are present from teenage years onwards and increase with age. These abnormabilities are frequent, some of them being benign while others predispose to retinal tears and detachment. In the latter case, the lesions are rhegmatogenous and may justify prophylactic treatment by laser photocoagulation. We distinguish congenital lesions of the peripheral retina and intraretinal, chorioretinal and vitreoretinal degenerations. The holes and tears observed in 2% of the population consist of round atrophic holes, "horseshoe" tears, oral dialyses and giant tears. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  6. Radiographic evaluation of degenerative joint disease in horses: interpretive principles

    International Nuclear Information System (INIS)

    Widmer, W.R.; Blevins, W.E.

    1994-01-01

    Degenerative joint disease in horses is characterized by the progressive deterioration of articular cartilage of synovial joints. The morbidity associated with degenerative joint disease, particularly the loss of function in pleasure and performance horses, costs horse owners millions of dollars each year. Although new drugs, such as polysulfated glycosaminoglycans and hyaluronic acid, are available for the treatment of patients with degenerative joint disease, the success of therapy depends on early diagnosis. Diagnostic imaging strategies, therefore, should focus on accurate and timely diagnosis of degenerative joint disease to provide prompt therapy. Early identification of degenerative joint disease is also beneficial because the use and/or training methods of affected patients may be altered, possibly limiting the progression of the disease. The pathogenesis of degenerative joint disease is complex and multifactorial. Current evidence suggests that initiating factors lead to a final common pathway-breakdown of articular cartilage. There are many diagnostic tests that aid practitioners in detecting degenerative joint disease; however, the most important imaging technique is radiography. During the early stages of the disease, radiographic changes may be slight; therefore, it is essential that practitioners have adequate equipment to obtain high-quality radiographs. Thinning of the joint space, osteophytosis, enthesopathy, changes in subchondral bone, and increased synovium and synovia provide radiographic evidence of degenerative joint disease. By understanding the pathophysiology of the disease and how technical alterations affect the subtle radiographic changes, practitioners can more accurately diagnose degenerative joint disease during its early stages and institute proper therapy

  7. Imaging of bone spavin. A radiographic and scintigraphic study of degenerative joint disease in the distal tarsus in Icelandic horses

    International Nuclear Information System (INIS)

    Eksell, P.

    2000-01-01

    Radiography and scintigraphy are commonly used for the diagnosis of skeletal disorders in horses. Icelandic Horses have a high prevalence of degenerative joint disease of the distal tarsus, generally known as bone spavin (BS). The purpose of this study was to evaluate and develop the use of radiography and scintigraphy for the detection of BS in Icelandic Horses

  8. Stem cell treatment of degenerative eye disease

    Directory of Open Access Journals (Sweden)

    Ben Mead

    2015-05-01

    Full Text Available Stem cell therapies are being explored extensively as treatments for degenerative eye disease, either for replacing lost neurons, restoring neural circuits or, based on more recent evidence, as paracrine-mediated therapies in which stem cell-derived trophic factors protect compromised endogenous retinal neurons from death and induce the growth of new connections. Retinal progenitor phenotypes induced from embryonic stem cells/induced pluripotent stem cells (ESCs/iPSCs and endogenous retinal stem cells may replace lost photoreceptors and retinal pigment epithelial (RPE cells and restore vision in the diseased eye, whereas treatment of injured retinal ganglion cells (RGCs has so far been reliant on mesenchymal stem cells (MSC. Here, we review the properties of non-retinal-derived adult stem cells, in particular neural stem cells (NSCs, MSC derived from bone marrow (BMSC, adipose tissues (ADSC and dental pulp (DPSC, together with ESC/iPSC and discuss and compare their potential advantages as therapies designed to provide trophic support, repair and replacement of retinal neurons, RPE and glia in degenerative retinal diseases. We conclude that ESCs/iPSCs have the potential to replace lost retinal cells, whereas MSC may be a useful source of paracrine factors that protect RGC and stimulate regeneration of their axons in the optic nerve in degenerate eye disease. NSC may have potential as both a source of replacement cells and also as mediators of paracrine treatment.

  9. Canine Degenerative Valve Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Carmenza Janneth Benavides Melo

    2014-07-01

    Full Text Available Degenerative valvular disease or endocardiosis is the most common cardiovascular pathology in dogs. It is characterized by regurgitation of blood into the atria with decreased cardiac output, leading to volume overload with eccentric hypertrophy and congestive heart failure. This report describes the clinical and autopsy findings of a dog, suggestive of valvular endocardiosis. The patient was admitted to the outpatient Veterinary Clinic “Carlos Martínez Hoyos” at the University of Nariño (Pasto, Colombia. His owner said the dog was sick for two months, with signs of respiratory disease, weight loss, and decay. Clinical examination showed very pale mucous membranes, inspiratory dyspnea, rale, split S2, grade 4 mid-systolic murmur of regurgitation, and abdominal dilatation with sign of positive shock wave. Necropsy evidenced plenty of translucent watery material in the abdominal, chest and pericardium cavity, severely enlarged and rounded heart with thickened atrioventricular valves, moderate reduction in liver size and signs of lobulation, severely diminished and pale kidneys with irregular surface showing the presence of multiple cystic areas in corticomedullary region. Samples were taken from these tissues and fixed in 10% buffered formalin to be processed for histopathological analysis at the Laboratory of Pathology at the University of Nariño, using hematoxylin and eosin stain. This way, degenerative valvular disease was diagnosed.

  10. 3-D MRI for lumbar degenerative diseases

    International Nuclear Information System (INIS)

    Aota, Yoichi; Kumano, Kiyoshi; Hirabayashi, Shigeru; Ogawa, Yu; Izumi, Yasujiro; Yoshikawa, Koki; Yamazaki, Tatsuo.

    1993-01-01

    Three-dimensional (3-D) magnetic resonance (MR) images obtained from 10 patients with lumbar degenerative diseases were retrospectively reviewed to determine how far 3-D MR imaging is capable of demonstrating nerve roots. In 8 of the 10 patients, the area up to the dorsal root ganglion was visualized on 3-D MR images. Thus, it is capable of detecting a wide area of nerve roots, thereby allowing the determination of running of nerve root, and size and location of dorsal root ganglion. In delineating the area from the dural canal to root cyst, 3-D MR imaging was equal to conventional myelography. The former was superior to the latter in detecting the positional relation between the degenerative intervertebral disc and the nerve root, and herniation-compressed root cyst. In 3 of 9 patients who presented with root symptoms, disturbed nerve roots were of high signal on 3-D MR images. This may suggest that it has the potential for selectively detecting root nerves associated with clinical manifestations. (N.K.)

  11. Stem cell treatment of degenerative eye disease.

    Science.gov (United States)

    Mead, Ben; Berry, Martin; Logan, Ann; Scott, Robert A H; Leadbeater, Wendy; Scheven, Ben A

    2015-05-01

    Stem cell therapies are being explored extensively as treatments for degenerative eye disease, either for replacing lost neurons, restoring neural circuits or, based on more recent evidence, as paracrine-mediated therapies in which stem cell-derived trophic factors protect compromised endogenous retinal neurons from death and induce the growth of new connections. Retinal progenitor phenotypes induced from embryonic stem cells/induced pluripotent stem cells (ESCs/iPSCs) and endogenous retinal stem cells may replace lost photoreceptors and retinal pigment epithelial (RPE) cells and restore vision in the diseased eye, whereas treatment of injured retinal ganglion cells (RGCs) has so far been reliant on mesenchymal stem cells (MSC). Here, we review the properties of non-retinal-derived adult stem cells, in particular neural stem cells (NSCs), MSC derived from bone marrow (BMSC), adipose tissues (ADSC) and dental pulp (DPSC), together with ESC/iPSC and discuss and compare their potential advantages as therapies designed to provide trophic support, repair and replacement of retinal neurons, RPE and glia in degenerative retinal diseases. We conclude that ESCs/iPSCs have the potential to replace lost retinal cells, whereas MSC may be a useful source of paracrine factors that protect RGC and stimulate regeneration of their axons in the optic nerve in degenerate eye disease. NSC may have potential as both a source of replacement cells and also as mediators of paracrine treatment. Copyright © 2015. Published by Elsevier B.V.

  12. Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome.

    Science.gov (United States)

    Vershkov, Dan; Benvenisty, Nissim

    2017-01-01

    Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS. In this review we summarize the methodologies for generation of FXS-PSCs, discuss their advantages and disadvantages compared with existing modeling systems and describe their utilization in the study of FXS pathogenesis and in the development of targeted treatment.

  13. Non-human Primate Models for Brain Disorders - Towards Genetic Manipulations via Innovative Technology.

    Science.gov (United States)

    Qiu, Zilong; Li, Xiao

    2017-04-01

    Modeling brain disorders has always been one of the key tasks in neurobiological studies. A wide range of organisms including worms, fruit flies, zebrafish, and rodents have been used for modeling brain disorders. However, whether complicated neurological and psychiatric symptoms can be faithfully mimicked in animals is still debatable. In this review, we discuss key findings using non-human primates to address the neural mechanisms underlying stress and anxiety behaviors, as well as technical advances for establishing genetically-engineered non-human primate models of autism spectrum disorders and other disorders. Considering the close evolutionary connections and similarity of brain structures between non-human primates and humans, together with the rapid progress in genome-editing technology, non-human primates will be indispensable for pathophysiological studies and exploring potential therapeutic methods for treating brain disorders.

  14. Evaluation of degenerative changes in articular cartilage of osteoarthritis by Raman spectroscopy

    Science.gov (United States)

    Oshima, Yusuke; Ishimaru, Yasumitsu; Kiyomatsu, Hiroshi; Hino, Kazunori; Miura, Hiromasa

    2018-02-01

    Osteoarthritis (OA) is a very common joint disease in the aging population. Main symptom of OA is accompanied by degenerative changes of articular cartilage. Cartilage contains mostly type II collagen and proteoglycans, so it is difficult to access the quality and morphology of cartilage tissue in situ by conventional diagnostic tools (X-ray, MRI and echography) directly or indirectly. Raman spectroscopy is a label-free technique which enables to analyze molecular composition in degenerative cartilage. In this proposal, we aim to develop Raman spectroscopic system for the quality assessment of articular cartilage during arthroscopic surgery. Toward this goal, we are focusing on the proteoglycan content and collagen fiber alignment in cartilage matrix which may be associated with degenerative changes in OA, and we designed an original Raman device for remote sensing during arthroscopic surgery. In this project, we define the grading system for cartilage defect based on Raman spectroscopy, and we complete the evaluation of the Raman probing system which makes it possible to detect early stage of degenerative cartilage as a novel tool for OA diagnosis using human subject.

  15. Proteomic profiling of early degenerative retina of RCS rats.

    Science.gov (United States)

    Zhu, Zhi-Hong; Fu, Yan; Weng, Chuan-Huang; Zhao, Cong-Jian; Yin, Zheng-Qin

    2017-01-01

    To identify the underlying cellular and molecular changes in retinitis pigmentosa (RP). Label-free quantification-based proteomics analysis, with its advantages of being more economic and consisting of simpler procedures, has been used with increasing frequency in modern biological research. Dystrophic RCS rats, the first laboratory animal model for the study of RP, possess a similar pathological course as human beings with the diseases. Thus, we employed a comparative proteomics analysis approach for in-depth proteome profiling of retinas from dystrophic RCS rats and non-dystrophic congenic controls through Linear Trap Quadrupole - orbitrap MS/MS, to identify the significant differentially expressed proteins (DEPs). Bioinformatics analyses, including Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway annotation and upstream regulatory analysis, were then performed on these retina proteins. Finally, a Western blotting experiment was carried out to verify the difference in the abundance of transcript factor E2F1. In this study, we identified a total of 2375 protein groups from the retinal protein samples of RCS rats and non-dystrophic congenic controls. Four hundred thirty-four significantly DEPs were selected by Student's t -test. Based on the results of the bioinformatics analysis, we identified mitochondrial dysfunction and transcription factor E2F1 as the key initiation factors in early retinal degenerative process. We showed that the mitochondrial dysfunction and the transcription factor E2F1 substantially contribute to the disease etiology of RP. The results provide a new potential therapeutic approach for this retinal degenerative disease.

  16. Proteomic profiling of early degenerative retina of RCS rats

    Directory of Open Access Journals (Sweden)

    Zhi-Hong Zhu

    2017-06-01

    Full Text Available AIM: To identify the underlying cellular and molecular changes in retinitis pigmentosa (RP. METHODS: Label-free quantification-based proteomics analysis, with its advantages of being more economic and consisting of simpler procedures, has been used with increasing frequency in modern biological research. Dystrophic RCS rats, the first laboratory animal model for the study of RP, possess a similar pathological course as human beings with the diseases. Thus, we employed a comparative proteomics analysis approach for in-depth proteome profiling of retinas from dystrophic RCS rats and non-dystrophic congenic controls through Linear Trap Quadrupole - orbitrap MS/MS, to identify the significant differentially expressed proteins (DEPs. Bioinformatics analyses, including Gene ontology (GO and Kyoto Encyclopedia of Genes and Genomes (KEGG pathway annotation and upstream regulatory analysis, were then performed on these retina proteins. Finally, a Western blotting experiment was carried out to verify the difference in the abundance of transcript factor E2F1. RESULTS: In this study, we identified a total of 2375 protein groups from the retinal protein samples of RCS rats and non-dystrophic congenic controls. Four hundred thirty-four significantly DEPs were selected by Student’s t-test. Based on the results of the bioinformatics analysis, we identified mitochondrial dysfunction and transcription factor E2F1 as the key initiation factors in early retinal degenerative process. CONCLUSION: We showed that the mitochondrial dysfunction and the transcription factor E2F1 substantially contribute to the disease etiology of RP. The results provide a new potential therapeutic approach for this retinal degenerative disease.

  17. Large animals as potential models of human mental and behavioral disorders.

    Science.gov (United States)

    Danek, Michał; Danek, Janusz; Araszkiewicz, Aleksander

    2017-12-30

    Many animal models in different species have been developed for mental and behavioral disorders. This review presents large animals (dog, ovine, swine, horse) as potential models of this disorders. The article was based on the researches that were published in the peer-reviewed journals. Aliterature research was carried out using the PubMed database. The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Diseases and Related Health Problems 10thRevision (ICD-10), in particular regarding: organic, including symptomatic, disorders; mental disorders (Alzheimer's disease and Huntington's disease, pernicious anemia and hepatic encephalopathy, epilepsy, Parkinson's disease, Creutzfeldt-Jakob disease); behavioral disorders due to psychoactive substance use (alcoholic intoxication, abuse of morphine); schizophrenia and other schizotypal disorders (puerperal psychosis); mood (affective) disorders (depressive episode); neurotic, stress-related and somatoform disorders (posttraumatic stress disorder, obsessive-compulsive disorder); behavioral syndromes associated with physiological disturbances and physical factors (anxiety disorders, anorexia nervosa, narcolepsy); mental retardation (Cohen syndrome, Down syndrome, Hunter syndrome); behavioral and emotional disorders (attention deficit hyperactivity disorder). This data indicates many large animal disorders which can be models to examine the above human mental and behavioral disorders.

  18. Degenerative disease of the lumbar spine.

    Science.gov (United States)

    Kovacs, F M; Arana, E

    2016-04-01

    In the last 25 years, scientific research has brought about drastic changes in the concept of low back pain and its management. Most imaging findings, including degenerative changes, reflect anatomic peculiarities or the normal aging process and turn out to be clinically irrelevant; imaging tests have proven useful only when systemic disease is suspected or when surgery is indicated for persistent spinal cord or nerve root compression. The radiologic report should indicate the key points of nerve compression, bypassing inconsequential findings. Many treatments have proven inefficacious, and some have proven counterproductive, but they continue to be prescribed because patients want them and there are financial incentives for doing them. Following the guidelines that have proven effective for clinical management improves clinical outcomes, reduces iatrogenic complications, and decreases unjustified and wasteful healthcare expenditures. Copyright © 2016 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

  19. Influence of degenerative changes of intervertebral disc

    Directory of Open Access Journals (Sweden)

    WANG Yi

    2012-04-01

    Full Text Available 【Abstract】Objective: To investigate the material properties of normal and degenerated intervertebral discs (IVDs and examine the effect of degenerative changes on IVD pathology. Methods: A computer-based online search was under-taken to identify English articles about material properties of IVDs published from January 1950 to 2011 in PubMed database. The retrieved keywords included material properties, intervertebral disc and degeneration. Based on the principles of reliability, advancement and efficiency, the obtained data were primarily examined, and the original source was retrieved to read the full-text. Repetitive articles were excluded. The data of material properties of normal and degenerated IVDs were summarized and analyzed by meta-analysis. Results: The data of Young's modulus, Poisson's ratio, shear modulus, hydraulic permeability and intradiscal pres-sure of normal and degenerated IVDs were obtained. Com-pared with normal IVDs, the Young's modulus and shear modulus of annulus fibrosus and nucleus pulposus were higher in degenerated IVDs, the Poisson's ratio was lower while the hydraulic permeability and intradiscal pressure were higher. Besides, the degeneration-related alterations in IVDs had an influence both on itself and other spinal structures, leading to diseases such as bulging disc, discogenic pain and spinal stenosis. Meanwhile, the heavy mechanical loading and injury indicated important pathways to IVD degeneration. Conclusions: To a certain extent, the degenerative changes of IVD influence its material properties. And the degeneration-related alterations of composition can cause structural failure of IVDs, leading to injuries and diseases. Key words: Intervertebral disc; Mechanical phenomena; Degeneration; Elastic modulus; Permeability; Pathology

  20. Association between disk position and degenerative bone changes of the temporomandibular joints: an imaging study in subjects with TMD.

    Science.gov (United States)

    Cortés, Daniel; Sylvester, Daniel Cortés; Exss, Eduardo; Marholz, Carlos; Millas, Rodrigo; Moncada, Gustavo

    2011-04-01

    The aim of this study was to determine the frequency and relationship between disk position and degenerative bone changes in the temporomandibular joints (TMJ), in subjects with internal derangement (ID). MRI and CT scans of 180 subjects with temporomandibular disorders (TMD) were studied. Different image parameters or characteristics were observed, such as disk position, joint effusion, condyle movement, degenerative bone changes (flattened, cortical erosions and irregularities), osteophytes, subchondral cysts and idiopathic condyle resorption. The present study concluded that there is a significant association between disk displacement without reduction and degenerative bone changes in patients with TMD. The study also found a high probability of degenerative bone changes when disk displacement without reduction is present. No association was found between TMD and condyle range of motion, joint effusion and/or degenerative bone changes. The following were the most frequent morphological changes observed: flattening of the anterior surface of the condyle; followed by erosions and irregularities of the joint surfaces; flattening of the articular surface of the temporal eminence, subchondral cysts, osteophytes; and idiopathic condyle resorption, in decreasing order.

  1. Curcumin for neuropsychiatric disorders: a review of in vitro, animal and human studies.

    Science.gov (United States)

    Lopresti, Adrian L

    2017-03-01

    Turmeric has been used in traditional medicine for centuries to treat a range of ailments. Its primary active constituent curcumin, can influence an array of biological activities. Many of these, such as its anti-inflammatory, antioxidant, neuroprotective, and monoaminergic effects are dysregulated in several neuropsychiatric disorders. In this systematic review, in vitro, animal, and human studies investigating the potential of curcumin as a treatment for neuropsychiatric disorders such as major depressive disorder, post-traumatic stress disorder (PTSD), obsessive-compulsive disorder (OCD), bipolar disorder, psychotic disorders, and autism are reviewed, and directions for future research are proposed. It is concluded that curcumin is a promising, natural agent for many of these conditions, however, further research utilising robust, clinical designs are essential. The problem associated with the poor oral bioavailability of standard curcumin also requires consideration. Currently the greatest support for the efficacy of curcumin is for the treatment of major depressive disorder.

  2. Radiotherapy of degenerative joint disorders. Indication, technique and clinical results

    International Nuclear Information System (INIS)

    Keilholz, L.; Sauer, R.; Seegenschmiedt, M.H.; Alfred-Krupp-Krankenhaus, Essen

    1998-01-01

    From 1984 to 1994, 85 patients with painful osteoarthritis were treated. The mean follow-up was 4 (1 to 10) years. Seventy-three patients (103 joints) were available for long-term analysis: 17 patients (27 joints) with omarthrosis, 19 (20 joints) with rhizarthrosis, 31 (49 joints) with osteoarthritis of the knee and 6 patients (7 joints) with osteoarthritis of the hip. All patients were intensively pretreated over long time. Mean symptom duration prior to radiotherapy was 4 (1 to 10) years. Orthovoltage or linac photons were applied using some technical modifications depending upon the joint. Two radiotherapy series (6 x 1 Gy, total dose: 12 Gy, 3 weekly fractions) were prescribed. The interval between the 2 series was 6 weeks. The subjective pain profil was assessed prior to and 6 months after radiotherapy and at last follow-up. Forty-six (63%) patients (64 joints) achieved a reduction of pain symptoms; 16 of those had a 'major pain relief' and 14 'complete pain relief'. Large joints - knee and hip - responded better (64% each) than the rhizarthrosis (53%). All pain categories and grades and their combined pain score were significantly reduced. The pain reduction was mostly pronounced for the symptom 'pain at rest'. The orthopedic score correlated well with the subjective response of the patients. The thumb score improved in 11 (57%) joints, the shoulder score of Constant and Murley in 16 (59%), the Japonese knee score of Sasaki et al. in 33 (67%), the hip score of Harris in 5 (71%) joints. Only 9 of 19 patients which were treated to avoid surgery, had to be operated, and 3 of those received a total arthroplasty of the hip or knee. In multivariate analysis for the endpoint 'complete' or 'major pain relief' only the criterion 'symptom duration ≥2 years prior to radiotherapy' was an independent negative prognostic parameter. (orig./MG) [de

  3. Positron emission tomography in degenerative disorders of the dopaminergic system

    Energy Technology Data Exchange (ETDEWEB)

    Karbe, H; Holthoff, V; Huber, M; Herholz, K; Wienhard, K; Wagner, R; Heiss, W D [Universitaetsklinik fuer Neurologie und Max-Planck-Institut fuer neurologische Forschung, Koeln (Germany)

    1992-01-01

    21 patients who had Parkinson's disease (PD), PD plus dementia of Alzheimer type (PDAT) or progressive supranuclear palsy (PSP), were studied with positron emission tomography (PET) using ({sup 18}F)-2-fluoro-2-deoxy-D-glucose (FDG). In one patient with strictly unilateral PD side differences in striatal dopa uptake were studied with 6-({sup 18}F)fluoro-L-dopa (F-dopa). In patients with PD PET with FDG did not show any significant change in regional cerebral metabolic rates for glucose (rCMR(Glu)). In PDAT glucose metabolism was generally reduced, the most severe decrease was found in parietal cortex. The metabolic pattern was similar to that typically found in patients with Alzheimer's disease (AD). In the patient with strictly unilateral PD rCMR(Glu) was normal, F-dopa PET, however, revealed a distinct reduction of dopa uptake in the contralateral putamen. In PSP glucose metabolism was significantly decreased in subcortical regions (caudatum, putamen and brainstem) and in frontal cortex. Thus PET demonstrated a clear difference of metabolic pattern between PDAT and PSP. (authors).

  4. Radiologic imaging of degenerative and inflammatory joint disorders in women

    International Nuclear Information System (INIS)

    Krestan, C.R.; Grampp, S.; Kainberger . christian.krestan@univie.ac.at

    2001-01-01

    Pain in joints and other structures of the musculoskeletal system is a common complaint in women. It may occur as functional pain, in many cases as inflammatory episode of arthrosis or of metabolic joint disease, sometimes as early manifestation of rheumatoid disease. With conventional radiography, high resolution sonography, and MR imaging it is possible to classify many of these clinical syndromes. A semiquantitative assessment of inflammatory activity can be made by analysing the degree of joint effusion, the thickness of the synovium and the extent of hypervascularization. (author)

  5. Human iPSC-derived neurons and lymphoblastoid cells for personalized medicine research in neuropsychiatric disorders.

    Science.gov (United States)

    Gurwitz, David

    2016-09-01

    The development and clinical implementation of personalized medicine crucially depends on the availability of high-quality human biosamples; animal models, although capable of modeling complex human diseases, cannot reflect the large variation in the human genome, epigenome, transcriptome, proteome, and metabolome. Although the biosamples available from public biobanks that store human tissues and cells may represent the large human diversity for most diseases, these samples are not always sufficient for developing biomarkers for patient-tailored therapies for neuropsychiatric disorders. Postmortem human tissues are available from many biobanks; nevertheless, collections of neuronal human cells from large patient cohorts representing the human diversity remain scarce. Two tools are gaining popularity for personalized medicine research on neuropsychiatric disorders: human induced pluripotent stem cell-derived neurons and human lymphoblastoid cell lines. This review examines and contrasts the advantages and limitations of each tool for personalized medicine research.

  6. DMPD: Nod1 and Nod2 in innate immunity and human inflammatory disorders. [Dynamic Macrophage Pathway CSML Database

    Lifescience Database Archive (English)

    Full Text Available 18031249 Nod1 and Nod2 in innate immunity and human inflammatory disorders. Le Bour...w Nod1 and Nod2 in innate immunity and human inflammatory disorders. PubmedID 18031249 Title Nod1 and Nod2 in innate immunity and hum...an inflammatory disorders. Authors Le Bourhis L, Benko S

  7. Face scanning in autism spectrum disorder (ASD and attention deficit/hyperactivity disorder (ADHD: human versus dog face scanning

    Directory of Open Access Journals (Sweden)

    Mauro eMuszkat

    2015-10-01

    Full Text Available This study used eye-tracking to explore attention allocation to human and dog faces in children and adolescents with autism spectrum disorder (ASD, attention deficit/hyperactivity disorder (ADHD, and typical development (TD. Significant differences were found among the three groups. TD participants looked longer at the eyes than ASD and ADHD ones, irrespective of the faces presented. In spite of this difference, groups were similar in that they looked more to the eyes than to the mouth areas of interest. The ADHD group gazed longer at the mouth region than the other groups. Furthermore, groups were also similar in that they looked more to the dog than to the human faces. The eye tracking technology proved to be useful for behavioral investigation in different neurodevelopmental disorders.

  8. Is there a degenerative process going on in the brain of people with schizophrenia?

    Directory of Open Access Journals (Sweden)

    Bjorn Rund

    2009-10-01

    Full Text Available Schizophrenia is a biological and behavioural disorder which manifests itself in neurocognitive dysfunctions. The question of whether these key characteristics of the disorder are due to schizophrenia being a degenerative disorder has been discussed for more than 100 years. Neuropsychological data indicate that neurocognitive functions are relatively stable over time after illness onset. Several studies show that there is a decline in neurocognitive functioning prior to and in connection with onset of illness. There is no convincing evidence, however, that there is a progressive neurodegenerative process after onset of illness. Morphological data, on the other hand, indicate a degenerative process. Several novel longitudinal studies indicate a rapid reduction of vital brain tissues after onset of illness. In this paper some ideas about compensatory reactions and Cognitive Reserve Theory is outlined as possible explanations of the recent MR studies that show structural changes in the brain after the onset of schizophrenia, at the same time as cognitive functioning does not become more impaired. Determining whether schizophrenia is a neurodegenerative illness with progressive structural changes in the brain after debut of the illness, or a neurodevelopmental disorder starting in early life, is of significant importance for understanding the pathophysiology of the illness and its treatments.

  9. Computerized tomography in the diagnosis of degenerative vertebral diseases

    International Nuclear Information System (INIS)

    Bokarev, V.S.; Savchenko, A.P.; Ternovoj, S.K.

    1989-01-01

    CT and roentgenography were used for the investigation of 78 patients with the radicular syndrome. The state of the intervertebral disks, intervertebral joints and cerebrospinal canal in degenerative vertebral diseases was assessed. CT permits the detection of hernia, protrusion of the intervertebral disks, deformity of the intervertebral joints, and the narrowing of the cerebrospinal canal as a result of degenerative changes, as well as establishing the cause of the affection of neural structures in the cerebrospinal canal, radicular holes. CT possesses some advantages over roentgenography in the diagnosis of degenerative vertebral diseases

  10. Degenerative spondylolisthesis is associated with low spinal bone density

    DEFF Research Database (Denmark)

    Andersen, Thomas; Christensen, Finn B; Langdahl, Bente Lomholt

    2013-01-01

    and degenerative spondylolisthesis patients. 81 patients older than 60 years, who underwent DXA-scanning of their lumbar spine one year after a lumbar spinal fusion procedure, were included. Radiographs were assessed for disc height, vertebral wedging, and osteophytosis. Pain was assessed using the Low Back Pain...... Rating Scale pain index. T-score of the lumbar spine was significantly lower among degenerative spondylolisthesis patients compared with spinal stenosis patients (-1.52 versus -0.52, P = 0.04). Thirty-nine percent of degenerative spondylolisthesis patients were classified as osteoporotic and further 30...

  11. Topical Treatment of Degenerative Knee Osteoarthritis.

    Science.gov (United States)

    Meng, Zengdong; Huang, Rongzhong

    2018-01-01

    This article reviews topical management strategies for degenerative osteoarthritis (OA) of the knee. A search of Pubmed, Embase and the Cochrane library using MeSH terms including "topical," "treatment," "knee" and "osteoarthritis" was carried out. Original research and review articles on the effectiveness and safety, recommendations from international published guidelines and acceptability studies of topical preparations were included. Current topical treatments included for the management of knee OA include topical nonsteroidal anti-inflammatory drugs, capsaicin, salicylates and physical treatments such as hot or cold therapy. Current treatment guidelines recommend topical nonsteroidal anti-inflammatory drugs as an alternative and even first-line therapy for OA management, especially among elderly patients. Guidelines on other topical treatments vary, from recommendations against their use, to in favor as alternative or simultaneous therapy, especially for patients with contraindications to other analgesics. Although often well-tolerated and preferred by many patients, clinical care still lags in the adoption of topical treatments. Aspects of efficacy, safety and patient quality of life data require further research. Copyright © 2018 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  12. Perpetration of gross human rights violations in South Africa: association with psychiatric disorders.

    Science.gov (United States)

    Stein, Dan J; Williams, Stacey L; Jackson, Pamela B; Seedat, Soraya; Myer, Landon; Herman, Allen; Williams, David R

    2009-05-01

    A nationally representative study of psychiatric disorders in South Africa provided an opportunity to study the association between perpetration of human rights violations (HRVs) during apartheid and psychiatric disorder. Prior work has suggested an association between perpetration and post-traumatic stress disorder (PTSD), but this remains controversial. Subjects reported on their perpetration of human rights violations, purposeful injury, accidental injury and domestic violence. Lifetime and 12-month prevalence of DSM-IV (Diagnostic and Statistical Manual, 4th edition) disorders were assessed with Version 3.0 of the World Health Organization Composite International Diagnostic Interview (CIDI 3.0). Socio-demographic characteristics of these groups were calculated. Odds ratios for the association between the major categories of psychiatric disorders and perpetration were assessed. HRV perpetrators were more likely to be male, black and more educated, while perpetrators of domestic violence (DV) were more likely to be female, older, married, less educated and with lower income. HRV perpetration was associated with lifetime and 12-month anxiety and substance use disorders, particularly PTSD. Purposeful and DV perpetration were associated with lifetime and 12-month history of all categories of disorders, whereas accidental perpetration was associated most strongly with mood disorders. Socio-demographic profiles of perpetrators of HRV and DV in South Africa differ. While the causal relationship between perpetration and psychiatric disorders deserves further study, it is possible that some HRV and DV perpetrators were themselves once victims. The association between accidental perpetration and mood disorder also deserves further attention.

  13. Comparing ESC and iPSC?Based Models for Human Genetic Disorders

    OpenAIRE

    Halevy, Tomer; Urbach, Achia

    2014-01-01

    Traditionally, human disorders were studied using animal models or somatic cells taken from patients. Such studies enabled the analysis of the molecular mechanisms of numerous disorders, and led to the discovery of new treatments. Yet, these systems are limited or even irrelevant in modeling multiple genetic diseases. The isolation of human embryonic stem cells (ESCs) from diseased blastocysts, the derivation of induced pluripotent stem cells (iPSCs) from patients’ somatic cells, and the ne...

  14. Imaging of lumbar degenerative disk disease: history and current state

    International Nuclear Information System (INIS)

    Emch, Todd M.; Modic, Michael T.

    2011-01-01

    One of the most common indications for performing magnetic resonance (MR) imaging of the lumbar spine is the symptom complex thought to originate as a result of degenerative disk disease. MR imaging, which has emerged as perhaps the modality of choice for imaging degenerative disk disease, can readily demonstrate disk pathology, degenerative endplate changes, facet and ligamentous hypertrophic changes, and the sequelae of instability. Its role in terms of predicting natural history of low back pain, identifying causality, or offering prognostic information is unclear. As available modalities for imaging the spine have progressed from radiography, myelography, and computed tomography to MR imaging, there have also been advances in spine surgery for degenerative disk disease. These advances are described in a temporal context for historical purposes with a focus on MR imaging's history and current state. (orig.)

  15. Degenerative Changes in the Spine: Is This Arthritis?

    Science.gov (United States)

    ... in my spine. Does this mean I have arthritis? Answers from April Chang-Miller, M.D. Yes. ... spine. Osteoarthritis is the most common form of arthritis. Doctors may also refer to it as degenerative ...

  16. Contribution of microglia-mediated neuroinflammation to retinal degenerative diseases.

    Science.gov (United States)

    Madeira, Maria H; Boia, Raquel; Santos, Paulo F; Ambrósio, António F; Santiago, Ana R

    2015-01-01

    Retinal degenerative diseases are major causes of vision loss and blindness worldwide and are characterized by chronic and progressive neuronal loss. One common feature of retinal degenerative diseases and brain neurodegenerative diseases is chronic neuroinflammation. There is growing evidence that retinal microglia, as in the brain, become activated in the course of retinal degenerative diseases, having a pivotal role in the initiation and propagation of the neurodegenerative process. A better understanding of the events elicited and mediated by retinal microglia will contribute to the clarification of disease etiology and might open new avenues for potential therapeutic interventions. This review aims at giving an overview of the roles of microglia-mediated neuroinflammation in major retinal degenerative diseases like glaucoma, age-related macular degeneration, and diabetic retinopathy.

  17. Development of modulators against degenerative aging using radiation fusion technology

    Energy Technology Data Exchange (ETDEWEB)

    Jo, S. K.; Park, H. R.; Jang, B. S.; Roh, C. H.; Eom, H. S.; Choi, N. H.; Seol, M. A.; Kim, S. H.; Choi, H. M.; Park, M. K.; Shin, H. J.; Ryu, D. K.; Oh, W. J.; Kim, S. H; Yee, S. T.

    2012-04-15

    1. Objectives Establishment of modelling of degenerative aging using radiation technology Development of aging modulators using radiation degenerative aging model 2. Project results Establishment of the modeling of degenerative aging using radiation technology - The systematic study on the comparison of radiation-induced degeneration and natural aging process in animals and cells confirmed the biological similarity between these two degeneration models - The effective biomarkers were selected for the modelling of degenerative aging using radiation (10 biomarkers for immune/hematopoiesis, 1 for oxidative stress, 6 for molecular signaling, 3 for lipid metabolism) - The optimal irradiation condition was established for the modelling of degerative aging (total 5Gy with fractionation by over 10 times, lapse of over 4 months) - The molecular mechanisms of radiation-induced degeneration were studied including chronic inflammation (lung), inflammation-related lipid metabolism disturbance, mitochondria biogenesis and dynamics - The radiation degenerative model was evaluated with previously known natural substances (resveratrol, EGCG, etc) Development of aging modulators using radiation degenerative aging model - After the screening of about 800 natural herb extracts, 5 effective substances were selected for aging modulation. - 3 candidate compositions were selected from 20 compositions made from effective substances by in vitro evaluation (WAH2, WAH6, WAH7) - 1 composition (WAH6) was selected as the best aging modulator by in vivo evaluation in radiation-induced aging models and degenerative disease models. 3. Expected benefits and plan of application The modelling of degenerative aging using radiation can facilitate the aging research by providing the useful cell/animal models for aging research A large economic benefits are expected by the commercialization of developed aging modulators (over 10 billion KW in 2015.

  18. Lumbosacral transitional anatomy types and disc degenerative changes

    OpenAIRE

    Chabukovska-Radulovska Jasminka; Matveeva Niki; Poposka Anastasika

    2014-01-01

    Background and purpose: The relationship between presence of lumbo sacral transitional vertebra (LSTV) and disc degenerative changes is unclear. The aim of the study was to examine the relation between different types of LSTV and disc degenerative changes at the transitional and the adjacent cephalad segment. Material and methods: Sixty-three patients (mean age 51.48 ± 13.51) out of 200 adults with low back pain who performed MRI examination of the lumbo sacral spine, classified as po...

  19. Development of modulators against degenerative aging using radiation fusion technology

    International Nuclear Information System (INIS)

    Jo, S. K.; Park, H. R.; Jang, B. S.; Roh, C. H.; Eom, H. S.; Choi, N. H.; Seol, M. A.; Kim, S. H.; Choi, H. M.; Park, M. K.; Shin, H. J.; Ryu, D. K.; Oh, W. J.; Kim, S. H; Yee, S. T.

    2012-04-01

    1. Objectives Establishment of modelling of degenerative aging using radiation technology Development of aging modulators using radiation degenerative aging model 2. Project results Establishment of the modeling of degenerative aging using radiation technology - The systematic study on the comparison of radiation-induced degeneration and natural aging process in animals and cells confirmed the biological similarity between these two degeneration models - The effective biomarkers were selected for the modelling of degenerative aging using radiation (10 biomarkers for immune/hematopoiesis, 1 for oxidative stress, 6 for molecular signaling, 3 for lipid metabolism) - The optimal irradiation condition was established for the modelling of degerative aging (total 5Gy with fractionation by over 10 times, lapse of over 4 months) - The molecular mechanisms of radiation-induced degeneration were studied including chronic inflammation (lung), inflammation-related lipid metabolism disturbance, mitochondria biogenesis and dynamics - The radiation degenerative model was evaluated with previously known natural substances (resveratrol, EGCG, etc) Development of aging modulators using radiation degenerative aging model - After the screening of about 800 natural herb extracts, 5 effective substances were selected for aging modulation. - 3 candidate compositions were selected from 20 compositions made from effective substances by in vitro evaluation (WAH2, WAH6, WAH7) - 1 composition (WAH6) was selected as the best aging modulator by in vivo evaluation in radiation-induced aging models and degenerative disease models. 3. Expected benefits and plan of application The modelling of degenerative aging using radiation can facilitate the aging research by providing the useful cell/animal models for aging research A large economic benefits are expected by the commercialization of developed aging modulators (over 10 billion KW in 2015

  20. Global warming and neurodegenerative disorders: speculations on their linkage

    Science.gov (United States)

    Habibi, Laleh; Perry, George; Mahmoudi, Morteza

    2014-01-01

    Climate change is having considerable impact on biological systems. Eras of ice ages and warming shaped the contemporary earth and origin of creatures including humans. Warming forces stress conditions on cells. Therefore, cells evolved elaborate defense mechanisms, such as creation of heat shock proteins, to combat heat stress. Global warming is becoming a crisis and this process would yield an undefined increasing rate of neurodegenerative disorders in future decades. Since heat stress is known to have a degenerative effects on neurons and, conversely, cold conditions have protective effect on these cells, we hypothesize that persistent heat stress forced by global warming might play a crucial role in increasing neurodegenerative disorders. PMID:25671171

  1. Global warming and neurodegenerative disorders: speculations on their linkage.

    Science.gov (United States)

    Habibi, Laleh; Perry, George; Mahmoudi, Morteza

    2014-01-01

    Climate change is having considerable impact on biological systems. Eras of ice ages and warming shaped the contemporary earth and origin of creatures including humans. Warming forces stress conditions on cells. Therefore, cells evolved elaborate defense mechanisms, such as creation of heat shock proteins, to combat heat stress. Global warming is becoming a crisis and this process would yield an undefined increasing rate of neurodegenerative disorders in future decades. Since heat stress is known to have a degenerative effects on neurons and, conversely, cold conditions have protective effect on these cells, we hypothesize that persistent heat stress forced by global warming might play a crucial role in increasing neurodegenerative disorders.

  2. Contrasting Features of Urea Cycle Disorders in Human Patients and Knockout Mouse Models

    OpenAIRE

    Deignan, Joshua L.; Cederbaum, Stephen D.; Grody, Wayne W.

    2007-01-01

    The urea cycle exists for the removal of excess nitrogen from the body. Six separate enzymes comprise the urea cycle, and a deficiency in any one of them causes a urea cycle disorder (UCD) in humans. Arginase is the only urea cycle enzyme with an alternate isoform, though no known human disorder currently exists due to a deficiency in the second isoform. While all of the UCDs usually present with hyperammonemia in the first few days to months of life, most disorders are distinguished by a cha...

  3. Convergent integration of animal model and human studies of bipolar disorder (manic-depressive illness).

    Science.gov (United States)

    Le-Niculescu, Helen; Patel, Sagar D; Niculescu, Alexander B

    2010-10-01

    Animal models and human studies of bipolar disorder and other psychiatric disorders are becoming increasingly integrated, prompted by recent successes. Particularly for genomics, the convergence and integration of data across species, experimental modalities and technical platforms is providing a fit-to-disease way of extracting reproducible and biologically important signal, in sharp contrast to the fit-to-cohort effect, disappointing findings to date, and limited reproducibility of human genetic analyses alone. Such work in psychiatry can provide an example of how to address other genetically complex disorders, and in turn will benefit by incorporating concepts from other areas, such as cancer biology and diabetes. Copyright © 2010. Published by Elsevier Ltd.

  4. Micro PIXE investigations. Time sequencing studies in degenerative diseases

    International Nuclear Information System (INIS)

    Watt, F.; Minqin, R.; Patricia Thong ps

    1999-01-01

    The simultaneously applied techniques of Particle Induced X-ray Emission (PIXE), Rutherford Backscattering Spectrometry (RBS) and Scanning Transmission Ion Microscopy (STIM), have been successful in mapping and quantifying trace elements during the progression of several human diseases, in particular those degenerative diseases which have a corresponding animal model. In atherosclerosis, iron has been shown to be present in increased concentrations at the early stage of lesion formation, and when the animal model has been kept anaemic, the artery wall shows a reduced uptake of iron and a delay in lesion formation compared with controls. In Parkinson's disease, there is also an increased concentration of iron in the substantia nigra region of the brain. Although the increase in bulk iron appears to lag behind the dopaminergic cell death, we have detected an increase in localized deposits of iron at the onset of cell death. These two results infer that iron may play a role in both diseases, perhaps through the mediation of free radicals. The induction of epilepsy through the injection of kainic acid has shown that the cell death is accompanied by an increase in calcium levels as early as one day after injection. The increase in calcium is consistent with activation of phospholipase A 2 and free radical damage. (author)

  5. Microglia in Alzheimer’s Disease: Activated, Dysfunctional or Degenerative

    Directory of Open Access Journals (Sweden)

    Victoria Navarro

    2018-05-01

    Full Text Available Microglial activation has been considered a crucial player in the pathological process of multiple human neurodegenerative diseases. In some of these pathologies, such as Amyotrophic Lateral Sclerosis or Multiple Sclerosis, the immune system and microglial cells (as part of the cerebral immunity play a central role. In other degenerative processes, such as Alzheimer’s disease (AD, the role of microglia is far to be elucidated. In this “mini-review” article, we briefly highlight our recent data comparing the microglial response between amyloidogenic transgenic models, such as APP/PS1 and AD patients. Since the AD pathology could display regional heterogeneity, we focus our work at the hippocampal formation. In APP based models a prominent microglial response is triggered around amyloid-beta (Aβ plaques. These strongly activated microglial cells could drive the AD pathology and, in consequence, could be implicated in the neurodegenerative process observed in models. On the contrary, the microglial response in human samples is, at least, partial or attenuated. This patent difference could simply reflect the lower and probably slower Aβ production observed in human hippocampal samples, in comparison with models, or could reflect the consequence of a chronic long-standing microglial activation. Beside this differential response, we also observed microglial degeneration in Braak V–VI individuals that, indeed, could compromise their normal role of surveying the brain environment and respond to the damage. This microglial degeneration, particularly relevant at the dentate gyrus, might be mediated by the accumulation of toxic soluble phospho-tau species. The consequences of this probably deficient immunological protection, observed in AD patients, are unknown.

  6. [Theoretic basis on the same therapeutic program for different degenerative brain diseases in terms of the Governor Vessel: Alzheimer's disease and Parkinson's disease].

    Science.gov (United States)

    Wu, Junyan; Wang, Jie; Zhang, Junlong

    2015-05-01

    Through the consultation of TCM ancient classical theory, the relationship of kidney essence, marrow and brain is analyzed. It is discovered that the degenerative brain diseases, represented by Alzheimer's disease (AD) and Parkinson's disease (PD) share the same etiological basis as "kidney essence deficiency and brain marrow emptiness" and have the mutual pathological outcomes as yang qi declining. The Governor Vessel gathers yang qi of the whole body and maintains the normal functional activity of zangfu organs in the human body through the storage, regulation and invigoration of yang qi. It is viewed that the theory of the Governor Vessel is applied to treat the different degenerative brain diseases, which provides the theoretic support and practice guide for the thought of TCM as the same therapeutic program for the different diseases. As a result, the degenerative brain diseases can be retarded and the approach is provided to the effective prevention and treatment of degenerative diseases in central nerve system:

  7. Tremor cells in the human thalamus: differences among neurological disorders.

    Science.gov (United States)

    Brodkey, Jason A; Tasker, Ronald R; Hamani, Clement; McAndrews, Mary Pat; Dostrovsky, Jonathan O; Lozano, Andres M

    2004-07-01

    Thalamic neurons firing at frequencies synchronous with tremor are thought to play a critical role in the generation and maintenance of tremor. The authors studied the incidence and locations of neurons with tremor-related activity (TRA) in the thalamus of patients with varied pathological conditions-including Parkinson disease (PD), essential tremor (ET), multiple sclerosis (MS), and cerebellar disorders--to determine whether known differences in the effectiveness of thalamic stereotactic procedures for these tremors could be correlated to differences in the incidence or locations of TRA cells. Seventy-five operations were performed in 61 patients during which 686 TRA cells were recorded from 440 microelectrode trajectories in the thalamus. The locations of the TRA cells in relation to electrophysiologically defined thalamic nuclei and the commissural coordinates were compared among patient groups. The authors found that TRA cells are present in patients with each of these disorders and that these cells populate several nuclei in the ventral lateral tier of the thalamus. There were no large differences in the locations of TRA cells among the different diagnostic classes, although there was a difference in the incidence of TRA cells in patients with PD, who had greater than 3.8 times more cells per thalamic trajectory than patients with ET and approximately five times more cells than patients with MS or cerebellar disorders. There was an increased incidence of TRA in the thalamus of patients with PD. The location of thalamic TRA cells in patients with basal ganglia and other tremor disorders was similar.

  8. Human Sexual Desire Disorder: Do We Have a Problem?

    Science.gov (United States)

    McNab, Warren L.; Henry, Jean

    2006-01-01

    Hypoactive Sexual Desire Disorder (HSDD), loss of sexual desire for sexual activity, is one of the most common sexual dysfunctions of men and women in the United States. This article presents an overview of this specific sexual dysfunction including incidence, possible causes, treatment options, and the role of the health educator in addressing…

  9. Emotion Recognition in Animated Compared to Human Stimuli in Adolescents with Autism Spectrum Disorder

    Science.gov (United States)

    Brosnan, Mark; Johnson, Hilary; Grawmeyer, Beate; Chapman, Emma; Benton, Laura

    2015-01-01

    There is equivocal evidence as to whether there is a deficit in recognising emotional expressions in Autism spectrum disorder (ASD). This study compared emotion recognition in ASD in three types of emotion expression media (still image, dynamic image, auditory) across human stimuli (e.g. photo of a human face) and animated stimuli (e.g. cartoon…

  10. Physical Therapy in Elderly Suffering from Degenerative Diseases.

    Science.gov (United States)

    Svraka, Emira; Pecar, Muris; Jaganjac, Amila; Hadziomerovic, Amra Macak; Kaljic, Eldad; Kovacevic, Almir

    2017-12-01

    Osteoarthritis of the joints (osteoarthritis or arthritis) represents the largest group of rheumatic diseases. Within rheumatic diseases 50% are degenerative rheumatic diseases, 10% inflammatory and 40% extra-articular. To determine the modalities of physical therapy for elderly with degenerative diseases. The study is retrospective-prospective and descriptive. The survey conducted included 25 patients with degenerative diseases of the musculoskeletal and nervous systems in Gerontology Center in Sarajevo, from May 1, 2014- April 30, 2015. As research instruments were used: Questionnaire for users of physical therapy in Gerontology Center in Sarajevo, self-developed, visual-analog scale to assess pain and patient records. Of the total number of patients with degenerative diseases (25), 10 (40%) were male and 15 (60%) were female. The most common degenerative disease is knee osteoarthritis which had 11 patients (29%), 3 males and 8 females. From physical therapy modalities in the treatment of degenerative diseases at the Gerontology Center in Sarajevo, kinetic therapy was administered to all patients, followed by manual massage and TENS in 15 cases (60%). From twenty-two patients, who completed a questionnaire, 11 (50%, 2 male and 9 female) rated their health as poor. Seven patients (32%, 3 male and 4 female) assessed their health as good. Three patients (14%, 2 male and 1 female) rated their health as very poor, and one patient (4%, 1 male) rated its health as very good. The Research Physical therapy in elderly with degenerative diseases is a pilot project, which highlights the need for: Conducting research for a longer time period, with a larger sample; Quality of keeping health records; Implementation of a continuous evaluation of functional status and; Stricter control for optimal effectiveness of physical therapy in order to improve the quality of life of elderly patients.

  11. Puberty as a critical risk period for eating disorders: a review of human and animal studies.

    Science.gov (United States)

    Klump, Kelly L

    2013-07-01

    This article is part of a Special Issue "Puberty and Adolescence". Puberty is one of the most frequently discussed risk periods for the development of eating disorders. Prevailing theories propose environmentally mediated sources of risk arising from the psychosocial effects (e.g., increased body dissatisfaction, decreased self-esteem) of pubertal development in girls. However, recent research highlights the potential role of ovarian hormones in phenotypic and genetic risk for eating disorders during puberty. The goal of this paper is to review data from human and animal studies in support of puberty as a critical risk period for eating disorders and evaluate the evidence for hormonal contributions. Data are consistent in suggesting that both pubertal status and pubertal timing significantly impact risk for most eating disorders in girls, such that advanced pubertal development and early pubertal timing are associated with increased rates of eating disorders and their symptoms in both cross-sectional and longitudinal research. Findings in boys have been much less consistent and suggest a smaller role for puberty in risk for eating disorders in boys. Twin and animal studies indicate that at least part of the female-specific risk is due to genetic factors associated with estrogen activation at puberty. In conclusion, data thus far support a role for puberty in risk for eating disorders and highlight the need for additional human and animal studies of hormonal and genetic risk for eating disorders during puberty. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Puberty as a Critical Risk Period for Eating Disorders: A Review of Human and Animal Studies

    Science.gov (United States)

    Klump, Kelly L.

    2013-01-01

    Puberty is one of the most frequently discussed risk periods for the development of eating disorders. Prevailing theories propose environmentally mediated sources of risk arising from the psychosocial effects (e.g., increased body dissatisfaction, decreased self-esteem) of pubertal development in girls. However, recent research highlights the potential role of ovarian hormones in phenotypic and genetic risk for eating disorders during puberty. The goal of this paper is to review data from human and animal studies in support of puberty as a critical risk period for eating disorders and evaluate the evidence for hormonal contributions. Data are consistent in suggesting that both pubertal status and pubertal timing significantly impact risk for most eating disorders in girls, such that advanced pubertal development and early pubertal timing are associated with increased rates of eating disorders and their symptoms in both cross-sectional and longitudinal research. Findings in boys have been much less consistent and suggest a smaller role for puberty in risk for eating disorders in boys. Twin and animal studies indicate that at least part of the female-specific risk is due to genetic factors associated with estrogen activation at puberty. In conclusion, data thus far support a role for puberty in risk for eating disorders and highlight the need for additional human and animal studies of hormonal and genetic risk for eating disorders during puberty. PMID:23998681

  13. Shining evolutionary light on human sleep and sleep disorders.

    OpenAIRE

    Krystal, Andrew; Nunn, CL; Samson, DR; Krystal, AD

    2016-01-01

    Sleep is essential to cognitive function and health in humans, yet the ultimate reasons for sleep-i.e. 'why' sleep evolved-remain mysterious. We integrate findings from human sleep studies, the ethnographic record, and the ecology and evolution of mammalia

  14. CT findings of isthmic spondylolisthesis and degenerative spondylolisthesis

    International Nuclear Information System (INIS)

    Chang, Suk Kyeong; Cho, Seong II; Chung, Gyung Ho; Lee, Sang Yong; Han, Young Min; Sohn, Myung Hee; Kim, Chong Soo; Choi, Ki Chul

    1996-01-01

    CT evaluate the finding useful for differential diagnosis and associated abnormalities of isthmic spondylolisthesis and degenerative spondylolisthesis on CT. We reviewed retrospectively the CT images of 164 patients who were diagnosed spondylolisthesis. One hundred twelve patients had isthmic spondylolisthesis and 52 patients had degenerative spondylolisthesis. Isthmic spondylolisthesis most frequently occurred at L5. The degree of anterior displacement was grade I and II. The defect had a horizontal plane, an irregular surface, a sclerotic margin, and protruding hypertrophic bony spur in the spinal canal. The most frequently associated structural abnormality was a herniated nucleus pulposus at the upper level of the defect. Degenerative spondylolisthesis most frequently occurred at L4-5 and were grade I. The degenerative facet joint had a vertical plane, a hypertrophic bony spur, and a vacuum facet phenomenon. We frequently detected a pseudobulging disk. The most frequently associated structural abnormality was a herniated nucleus pulposus at the level of the displacement. In spondylolisthesis, the findings in CT were valuable for differential diagnosis of isthmic and degenerative types and the detection of associated symptomatic abnormalities

  15. Quantitative evaluation of degenerative lumbar intervertebral disc applying an equivalent cross-relaxation rate using MRI

    International Nuclear Information System (INIS)

    Obata, Hideaki; Inaba, Tadashi; Kato, Takaya; Tokuda, Masataka; Matsushima, Shigeru; Yamada, Michiaki; Kinosada, Yasutomi

    2004-01-01

    The equivalent cross-relaxation rate (ECR) is a measurement method to evaluate a change in organizational structure quantitatively utilizing MRI. The objectives of this study are to understand the characteristics related to water contents in degenerative lumbar intervertebral discs, and to investigate the usefulness of quantitative evaluation using ECR in order to find as early as possible disordered discs. Seven normal volunteers and four asymptomatic volunteers with degeneration in lumbar intervertebral discs, 21 to 26 years of age, were studied using a SIGNA model of GE Medical Systems equipped with a 1.5 T clinical scanner and spine coil. The ECR values were defined as the percentage of signal loss between unsaturated and saturated images. The results showed that the ECR value of annulus fibrosus in an intervertebral disc was higher than nucleus pulposus. Furthermore, it was found that the ECR value of nucleus pulposus (L5-S1) with degeneration was significantly higher than that without degeneration. It was considered that this result reflected an increase of water contents in the degenerative nucleus. This study suggests that the ECR value of a nucleus could be an effective parameter to diagnosis of degenerated discs or grades of disorder. (author)

  16. Clinical and radiological outcome of conservative vs. surgical treatment of atraumatic degenerative rotator cuff rupture : design of a randomized controlled trial

    NARCIS (Netherlands)

    Heerspink, Frederik O. Lambers; Hoogeslag, Roy A. G.; Diercks, Ron L.; van Eerden, Pepijn J. M.; van den Akker-Scheek, Inge; van Raay, Jos J. A. M.

    2011-01-01

    Background: Subacromial impingement syndrome is a frequently observed disorder in orthopedic practice. Lasting symptoms and impairment may occur when a subsequent atraumatic rotator cuff rupture is also present. However, degenerative ruptures of the rotator cuff can also be observed in asymptomatic

  17. Pathophysiology of Degenerative Mitral Regurgitation: New 3-Dimensional Imaging Insights.

    Science.gov (United States)

    Antoine, Clemence; Mantovani, Francesca; Benfari, Giovanni; Mankad, Sunil V; Maalouf, Joseph F; Michelena, Hector I; Enriquez-Sarano, Maurice

    2018-01-01

    Despite its high prevalence, little is known about mechanisms of mitral regurgitation in degenerative mitral valve disease apart from the leaflet prolapse itself. Mitral valve is a complex structure, including mitral annulus, mitral leaflets, papillary muscles, chords, and left ventricular walls. All these structures are involved in physiological and pathological functioning of this valvuloventricular complex but up to now were difficult to analyze because of inherent limitations of 2-dimensional imaging. The advent of 3-dimensional echocardiography, computed tomography, and cardiac magnetic resonance imaging overcoming these limitations provides new insights into mechanistic analysis of degenerative mitral regurgitation. This review will detail the contribution of quantitative and qualitative dynamic analysis of mitral annulus and mitral leaflets by new imaging methods in the understanding of degenerative mitral regurgitation pathophysiology. © 2018 American Heart Association, Inc.

  18. MR imaging of the spine: trauma and degenerative disease

    International Nuclear Information System (INIS)

    Wilmink, J.T.

    1999-01-01

    The purpose of this paper is to discuss the capabilities and drawbacks of MR imaging in patients with trauma to the spine and degenerative spinal conditions. In spinal trauma MR imaging is secondary to plain X-ray films and CT because of the greater availability and ease of performance of these techniques and their superior capability for detecting vertebral fractures. Magnetic resonance imaging is useful for detecting ligamentous ruptures and intraspinal mass lesions such as hematoma, and for assessing the state of the spinal cord and prognosis of a cord injury. In degenerative spinal disease the necessity is emphasized of critically evaluating the clinical relevance of any abnormal feature detected, as findings of degenerative pathology are common in individuals without symptoms. Magnetic resonance myelography permits rapid and accurate assessment of the state of the lumbar nerve roots (compressed or not). In the cervical region the quality of the myelographic picture is often degraded in patients with a narrow spinal canal. (orig.)

  19. Are animal models useful for studying human disc disorders / degeneration?

    NARCIS (Netherlands)

    Alini, M.; Eisenstein, S.M.; Ito, K.; Little, C.; Kettler, A.A.; Masuda, K.; Melrose, J.; Ralphs, J.; Stokes, I.; Wilke, H.J.

    2008-01-01

    Intervertebral disc (IVD) degeneration is an often investigated pathophysiological condition because of its implication in causing low back pain. As human material for such studies is difficult to obtain because of ethical and government regulatory restriction, animal tissue, organs and in vivo

  20. MRI in degenerative diseases of the cervical spine

    International Nuclear Information System (INIS)

    Schubeus, P.; Sander, B.; Hosten, N.; Mayer, H.M.; Weber, U.; Felix, R.

    1994-01-01

    MRI has grown increasingly important in recent years in diagnosis of degenerative diseases of the cervical spine, due to improvements of method that have made it a valuable diagnostic tool. The following contribution gives a brief introduction to the pathophysiology of degenerative changes in the cervical vertebral column and to the indications for MRI, describing within the framework of imaging the present state of MR examination technique. The ranking of the various gradient echo sequences, of the 3D methods and of the administration of contrast media in cervical myelopathy and radiaculopathy is discussed. (orig.) [de

  1. Neuromuscular exercise as treatment of degenerative knee disease

    DEFF Research Database (Denmark)

    Ageberg, Eva; Roos, Ewa M.

    2015-01-01

    Exercise is recommended as first-line treatment of degenerative knee disease. Our hypothesis is that neuromuscular exercise is feasible and at least as effective as tradionally used strength or aerobic training, but aims to more closely target the sensorimotor deficiencies and functional...... instability associated with the degenerative knee disease than traditionally used training methods.SUMMARY FOR TABLE OF CONTENTS PAGECurrent data suggests that the effect from neuromuscular exercise on pain and function is comparable to the effects seen from other forms of exercise....

  2. Contrasting features of urea cycle disorders in human patients and knockout mouse models.

    Science.gov (United States)

    Deignan, Joshua L; Cederbaum, Stephen D; Grody, Wayne W

    2008-01-01

    The urea cycle exists for the removal of excess nitrogen from the body. Six separate enzymes comprise the urea cycle, and a deficiency in any one of them causes a urea cycle disorder (UCD) in humans. Arginase is the only urea cycle enzyme with an alternate isoform, though no known human disorder currently exists due to a deficiency in the second isoform. While all of the UCDs usually present with hyperammonemia in the first few days to months of life, most disorders are distinguished by a characteristic profile of plasma amino acid alterations that can be utilized for diagnosis. While enzyme assay is possible, an analysis of the underlying mutation is preferable for an accurate diagnosis. Mouse models for each of the urea cycle disorders exist (with the exception of NAGS deficiency), and for almost all of them, their clinical and biochemical phenotypes rather closely resemble the phenotypes seen in human patients. Consequently, all of the current mouse models are highly useful for future research into novel pharmacological and dietary treatments and gene therapy protocols for the management of urea cycle disorders.

  3. Data on overlapping brain disorders and emerging drug targets in human Dopamine Receptors Interaction Network

    Directory of Open Access Journals (Sweden)

    Avijit Podder

    2017-06-01

    Full Text Available Intercommunication of Dopamine Receptors (DRs with their associate protein partners is crucial to maintain regular brain function in human. Majority of the brain disorders arise due to malfunctioning of such communication process. Hence, contributions of genetic factors, as well as phenotypic indications for various neurological and psychiatric disorders are often attributed as sharing in nature. In our earlier research article entitled “Human Dopamine Receptors Interaction Network (DRIN: a systems biology perspective on topology, stability and functionality of the network” (Podder et al., 2014 [1], we had depicted a holistic interaction map of human Dopamine Receptors. Given emphasis on the topological parameters, we had characterized the functionality along with the vulnerable properties of the network. In support of this, we hereby provide an additional data highlighting the genetic overlapping of various brain disorders in the network. The data indicates the sharing nature of disease genes for various neurological and psychiatric disorders in dopamine receptors connecting protein-protein interactions network. The data also indicates toward an alternative approach to prioritize proteins for overlapping brain disorders as valuable drug targets in the network.

  4. Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.

    Science.gov (United States)

    Goldberg, Y P; Pimstone, S N; Namdari, R; Price, N; Cohen, C; Sherrington, R P; Hayden, M R

    2012-10-01

    We have utilized a novel application of human genetics, illuminating the important role that rare genetic disorders can play in the development of novel drugs that may be of relevance for the treatment of both rare and common diseases. By studying a very rare Mendelian disorder of absent pain perception, congenital indifference to pain, we have defined Nav1.7 (endocded by SCN9A) as a critical and novel target for analgesic development. Strong human validation has emerged with SCN9A gain-of-function mutations causing inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder, both Mendelian disorder of spontaneous or easily evoked pain. Furthermore, variations in the Nav1.7 channel also modulate pain perception in healthy subjects as well as in painful conditions such as osteoarthritis and Parkinson disease. On the basis of this, we have developed a novel compound (XEN402) that exhibits potent, voltage-dependent block of Nav1.7. In a small pilot study, we showed that XEN402 blocks Nav1.7 mediated pain associated with IEM thereby demonstrating the use of rare genetic disorders with mutant target channels as a novel approach to rapid proof-of-concept. Our approach underscores the critical role that human genetics can play by illuminating novel and critical pathways pertinent for drug discovery. © 2012 John Wiley & Sons A/S.

  5. Socially Impaired Robots: Human Social Disorders and Robots' Socio-Emotional Intelligence

    OpenAIRE

    Vitale, Jonathan; Williams, Mary-Anne; Johnston, Benjamin

    2016-01-01

    Social robots need intelligence in order to safely coexist and interact with humans. Robots without functional abilities in understanding others and unable to empathise might be a societal risk and they may lead to a society of socially impaired robots. In this work we provide a survey of three relevant human social disorders, namely autism, psychopathy and schizophrenia, as a means to gain a better understanding of social robots' future capability requirements. We provide evidence supporting...

  6. Rethinking dependent personality disorder: comparing different human relatedness in cultural contexts.

    Science.gov (United States)

    Chen, YuJu; Nettles, Margaret E; Chen, Shun-Wen

    2009-11-01

    We argue that the Diagnostic and Statistical Manual of Mental Disorders dependent personality disorder is a culturally related concept reflecting deeply rooted values, beliefs, and assumptions of American individualistic convictions about self and interpersonal relationship. This article integrates social psychology concepts into the exploration of psychopathology. Beginning with the construct of individualism and collectivism, we demonstrate the limitations of this commonly used framework. The indigenous Chinese concept of Confucianism and Chinese Relationalism is introduced to highlight that a well-differentiated self is not a universal premise of human beings, healthy existence. In East Asian Confucianism the manifestation of dependence and submission may be considered individuals' proper behavior and required for their social obligation, rather than a direct display of individuals' personality. Thus, the complexity of dependent personality disorder is beyond the neo-Kraepelinian approach assumed by the Diagnostic and Statistical Manual of Mental Disorders system.

  7. Impressions of Humanness for Android Robot May Represent an Endophenotype for Autism Spectrum Disorders

    Science.gov (United States)

    Kumazaki, Hirokazu; Warren, Zachary; Swanson, Amy; Yoshikawa, Yuichiro; Matsumoto, Yoshio; Ishiguro, Hiroshi; Sarkar, Nilanjan; Minabe, Yoshio; Kikuchi, Mitsuru

    2018-01-01

    Identification of meaningful endophenotypes may be critical to unraveling the etiology and pathophysiology of autism spectrum disorders (ASD). We investigated whether impressions of "humanness" for android robot might represent a candidate characteristic of an ASD endophenotype. We used a female type of android robot with an appearance…

  8. Single photon emission computed tomography in lumbar degenerative spondylolisthesis

    International Nuclear Information System (INIS)

    Ito, S.; Muro, T.; Eisenstein, S.

    1998-01-01

    Analysis of single photon emission computed tomographic images and plain X-ray films of the lumbar vertebrae was performed in 15 patients with lumbar spondylosis and 15 patients with lumbar degenerative spondylolisthesis. The facet joint and osteophyte images were observed in particular, and the slipping ratio of spondylolisthetic vertebrae was determined. The slipping ratio of degenerative spondylolisthesis ranged from 11.8 % to 22.3 %. Hot uptake of 99mTc-HMDP by both L4-5 facet joints was significantly greater in the patients with degenerative spondylolisthesis than in those with lumbar spondylosis. The hot uptake by the osteophytes in lumbar spondylosis was nearly uniform among the three inferior segments, L3-4, L4-5 and L5-S, but was localized to the spondylolisthetic vertebrae, L4-5, or L5-S, in the patients with spondylolisthesis. Half of the osteophytes with hot uptake were assigned to the 3rd degree of Nathan's grading. It was suggested that stress was localized to the slipping vertebrae and their facet joints in patients with lumbar degenerative spondylolisthesis. (author)

  9. NONFUSION STABILIZATION IN THE DEGENERATIVE LUMBAR SPINE DISEASES

    Directory of Open Access Journals (Sweden)

    Matjaž Voršič

    2009-04-01

    Conclusions Cosmic is a posterior dynamic nonfusion pedicle screw-rod system for the stabilization of the lumbar vertebral column. It represents the new step in the development of the spinal instrumentation and can efficiently replace the spondylodesis in the treatment of painful degenerative diseases of the lumbar spine.

  10. Regional cerebral blood flow in primary degenerative dementia

    International Nuclear Information System (INIS)

    Kawakatsu, Shinobu; Totsuka, Shiro; Shinohara, Masao; Koyama, Hideki; Sagawa, Katsuo; Morinobu, Shigeru; Oiji, Arata; Komatani, Akio

    1991-01-01

    Regional cerebral blood flow (rCBF) was examined, using SPECT by Xe-133 inhalation, in patients with primary degenerative dementia who were subgrouped according to predominant symptoms with respect to amnesia, apraxia, agnosia, aphasia, and personality changes. Also the effect of sex and age at dementia onset on the rCBF patterns was assessed. (author). 26 refs.; 1 fig.; 7 tabs

  11. Time estimation in Parkinson's disease and degenerative cerebellar disease

    NARCIS (Netherlands)

    Beudel, Martijin; Galama, Sjoukje; Leenders, Klaus L.; de Jong, Bauke M.

    2008-01-01

    With functional MRI, we recently identified fronto-cerebellar activations in predicting time to reach a target and basal ganglia activation in velocity estimation, that is, small interval assessment. We now tested these functions in patients with Parkinson's disease (PD) and degenerative cerebellar

  12. [Operative treatment of degenerative diseases of the lumbar spine].

    Science.gov (United States)

    Czabanka, M; Thomé, C; Ringel, F; Meyer, B; Eicker, S-O; Rohde, V; Stoffel, M; Vajkoczy, P

    2018-04-20

    Degenerative diseases of the lumbar spine and associated lower back pain represent a major epidemiological and health-related economic challenge. A distinction is made between specific and unspecific lower back pain. In specific lower back pain lumbar disc herniation and spinal canal stenosis with or without associated segment instability are among the most frequent pathologies. Diverse conservative and operative strategies for treatment of these diseases are available. The aim of this article is to present an overview of current data and an evidence-based assessment of the possible forms of treatment. An extensive literature search was carried out via Medline plus an additional evaluation of the authors' personal experiences. Conservative and surgical treatment represent efficient treatment options for degenerative diseases of the lumbar spine. Surgical treatment of lumbar disc herniation shows slight advantages compared to conservative treatment consisting of faster recovery of neurological deficits and a faster restitution of pain control. Surgical decompression is superior to conservative measures for the treatment of spinal canal stenosis and degenerative spondylolisthesis. In this scenario conservative treatment represents an important supporting measure for surgical treatment in order to improve the mobility of patients and the outcome of surgical treatment. The treatment of specific lower back pain due to degenerative lumbar pathologies represents an interdisciplinary challenge, requiring both conservative and surgical treatment strategies in a synergistic treatment concept in order to achieve the best results for patients.

  13. MRI of degenerative cysts of the lumbar spine

    International Nuclear Information System (INIS)

    Khalatbari, K.; Ansari, H.

    2008-01-01

    Degenerative cysts of the lumbar spine encompass a heterogeneous group of cystic lesions that are presumed to share a common aetiology. Some of these cysts may be incidental findings, whereas others may produce acute or chronic symptoms. These cysts have been categorized using various combinations of topographic and pathological characteristics and by their attachment to or communication with a specific spinal structure

  14. MRI of degenerative cysts of the lumbar spine

    Energy Technology Data Exchange (ETDEWEB)

    Khalatbari, K. [Department of MRI, Iran Gamma Knife Centre, Iran University of Medial Sciences-Kamrani Charity Foundation, Tehran (Iran, Islamic Republic of)], E-mail: khalatbarik@yahoo.com; Ansari, H. [Department of Orthopaedics, Rassoul Akram University Hospital, Tehran (Iran, Islamic Republic of)

    2008-03-15

    Degenerative cysts of the lumbar spine encompass a heterogeneous group of cystic lesions that are presumed to share a common aetiology. Some of these cysts may be incidental findings, whereas others may produce acute or chronic symptoms. These cysts have been categorized using various combinations of topographic and pathological characteristics and by their attachment to or communication with a specific spinal structure.

  15. Risk factors for mental disorders in women survivors of human trafficking: a historical cohort study

    Science.gov (United States)

    2013-01-01

    Background Previous studies have found high levels of symptoms of depression, anxiety, and post-traumatic stress disorder among women survivors of human trafficking. No previous research has described risk factors for diagnosed mental disorders in this population. Methods A historical cohort study of women survivors of trafficked women aged 18 and over who returned to Moldova and registered for assistance with the International Organisation for Migration (IOM). Women were approached by IOM social workers and, if they gave informed consented to participate in the study, interviewed by the research team. At 2–12 months post-return to Moldova, a psychiatrist assessed DSM-IV mental disorders blind to information about women’s pre-trafficking and post-trafficking experiences using the Structured Clinical Interview for DSM-IV (SCID). A backwards stepwise selection procedure was used to create a multivariable regression model of risk factors for DSM-IV mental disorder measured at an average of 6 months post-return. Results 120/176 (68%) eligible women participated. At an average of 6 months post-return, 54% met criteria for any DSM-IV mental disorder: 35.8% of women had PTSD (alone or co-morbid), 12.5% had depression without PTSD and 5.8% had another anxiety disorder. Multivariable regression analysis found that childhood sexual abuse (Adjusted Odds Ratio [AOR] 4.68, 95% CI 1.04-20.92), increased number of post-trafficking unmet needs (AOR 1.80; 95% CI 1.28-2.52) and post-trafficking social support (AOR 0.64; 95% CI 0.52-0.79) were independent risk factors for mental disorder, and that duration of trafficking showed a borderline association with mental disorder (AOR 1.12, 95% CI 0.98-1.29). Conclusions Assessment for mental disorders should be part of re-integration follow-up care for women survivors of human trafficking. Mental disorders at that time, most commonly PTSD and depression, are likely to be influenced by a range of predisposing, precipitating and

  16. Risk factors for mental disorders in women survivors of human trafficking: a historical cohort study.

    Science.gov (United States)

    Abas, Melanie; Ostrovschi, Nicolae V; Prince, Martin; Gorceag, Viorel I; Trigub, Carolina; Oram, Siân

    2013-08-03

    Previous studies have found high levels of symptoms of depression, anxiety, and post-traumatic stress disorder among women survivors of human trafficking. No previous research has described risk factors for diagnosed mental disorders in this population. A historical cohort study of women survivors of trafficked women aged 18 and over who returned to Moldova and registered for assistance with the International Organisation for Migration (IOM). Women were approached by IOM social workers and, if they gave informed consented to participate in the study, interviewed by the research team. At 2-12 months post-return to Moldova, a psychiatrist assessed DSM-IV mental disorders blind to information about women's pre-trafficking and post-trafficking experiences using the Structured Clinical Interview for DSM-IV (SCID). A backwards stepwise selection procedure was used to create a multivariable regression model of risk factors for DSM-IV mental disorder measured at an average of 6 months post-return. 120/176 (68%) eligible women participated. At an average of 6 months post-return, 54% met criteria for any DSM-IV mental disorder: 35.8% of women had PTSD (alone or co-morbid), 12.5% had depression without PTSD and 5.8% had another anxiety disorder. Multivariable regression analysis found that childhood sexual abuse (Adjusted Odds Ratio [AOR] 4.68, 95% CI 1.04-20.92), increased number of post-trafficking unmet needs (AOR 1.80; 95% CI 1.28-2.52) and post-trafficking social support (AOR 0.64; 95% CI 0.52-0.79) were independent risk factors for mental disorder, and that duration of trafficking showed a borderline association with mental disorder (AOR 1.12, 95% CI 0.98-1.29). Assessment for mental disorders should be part of re-integration follow-up care for women survivors of human trafficking. Mental disorders at that time, most commonly PTSD and depression, are likely to be influenced by a range of predisposing, precipitating and maintaining factors. Care plans for survivors of

  17. Cervical spine degenerative changes (narrowed intervertebral disc spaces and osteophytes) in coal miners

    International Nuclear Information System (INIS)

    Zejda, J. E.; Stasiow, B.

    2003-01-01

    A series of 685 x-rays films of the cervical spine obtained in coal miners was analyzed to explore the occurrence of narrowed disc spaces and osteophytes in this occupational group, and to examine the association of x-rays changes with age, duration of employment, and duration of occupational exposure to hand-arm vibration. All data were extracted from individual medical files of coal miners examined for suspected hand-arm vibration-related disorders in 1989-1999 at the Occupational Medicine Center in Katowice. The narrowed intervertebral disc spaces were found in 188 coal miners (26.9%) and osteophytes in 332 coal miners (47.5%). The occurrence of degenerative changes in coal miners was similar to that observed in a small group of 68 blue-collar workers (no exposure to hand-arm vibration) employed in the coal industry. Univariate comparisons showed that intervertebral disc spaces and osteophytes were more frequent among older subjects and among subjects with longer duration of employment. The results of logistic regression analysis confirmed statistically significant effect of age, but not of other factors included in the model. When both x-ray changes were grouped together (a combined dependent variable) age remained the only statistically significant explanatory variable. The findings do not support the view that the examined degenerative changes in cervical spine are more prevalent in coal miners and depend on duration of physical work or local exposure to hand-arm vibration in this occupational group. (author)

  18. MR imaging of degenerative lumbar disc disease emphasizing on signal intensity changes in vertebral body

    International Nuclear Information System (INIS)

    Toyoda, Keiko; Ida, Masahiro; Murakami, Yoshitaka; Harada, Junta; Tada, Shimpei

    1992-01-01

    Magnetic resonance imaging was performed in 400 patients with degenerative disc disease. Signal changes and their sites in the vertebral body were classified and referred to narrowing of the intervertebral disc space. MR findings were compared with those of plain roentgenograms of the lumbar spine. Signal changes in the vertebral body were noted in 83 cases (102 vertebral bodies). Low-intensity abnormality on both T1- and T2-weighted images (WI) was the most common finding, and was most frequently seen at the end plate and/or the angle. These changes were correlated with narrowing of the disc space and osteosclerosis on the plain roentgenogram of the lumbar spine. Signal changes occasionally occurred in the inner region of the vertebral body, and these lesions tended to show a high-intensity abnormality on T1-WI. We conclude that signal changes in degenerative disc disease are not specific, but are sometimes difficult to distinguish from the signal changes in other conditions such as spinal tumor or bone marrow disorder. (author)

  19. Perspectives of Stem Cell-Based Therapy for Age-Related Retinal Degenerative Diseases.

    Science.gov (United States)

    Holan, Vladimir; Hermankova, Barbora; Kossl, Jan

    2017-09-01

    Retinal degenerative diseases, which include age-related macular degeneration, retinitis pigmentosa, diabetic retinopathy, and glaucoma, mostly affect the elderly population and are the most common cause of decreased quality of vision or even blindness. So far, there is no satisfactory treatment protocol to prevent, stop, or cure these disorders. A great hope and promise for patients suffering from retinal diseases is represented by stem cell-based therapy that could replace diseased or missing retinal cells and support regeneration. In this respect, mesenchymal stem cells (MSCs) that can be obtained from the particular patient and used as autologous cells have turned out to be a promising stem cell type for treatment. Here we show that MSCs can differentiate into cells expressing markers of retinal cells, inhibit production of pro-inflammatory cytokines by retinal tissue, and produce a number of growth and neuroprotective factors for retinal regeneration. All of these properties make MSCs a prospective cell type for cell-based therapy of age-related retinal degenerative diseases.

  20. Cell-based therapeutic strategies for replacement and preservation in retinal degenerative diseases

    Science.gov (United States)

    Jones, Melissa K.; Lu, Bin; Girman, Sergey; Wang, Shaomei

    2017-01-01

    Cell-based therapeutics offer diverse options for treating retinal degenerative diseases, such as age-related macular degeneration (AMD) and retinitis pigmentosa (RP). AMD is characterized by both genetic and environmental risks factors, whereas RP is mainly a monogenic disorder. Though treatments exist for some patients with neovascular AMD, a majority of retinal degenerative patients have no effective therapeutics, thus indicating a need for universal therapies to target diverse patient populations. Two main cell-based mechanistic approaches are being tested in clinical trials. Replacement therapies utilize cell-derived retinal pigment epithelial (RPE) cells to supplant lost or defective host RPE cells. These cells are similar in morphology and function to native RPE cells and can potentially supplant the responsibilities of RPE in vivo. Preservation therapies utilize supportive cells to aid in visual function and photoreceptor preservation partially by neurotrophic mechanisms. The goal of preservation strategies is to halt or slow the progression of disease and maintain remaining visual function. A number of clinical trials are testing the safety of replacement and preservation cell therapies in patients; however, measures of efficacy will need to be further evaluated. In addition, a number of prevailing concerns with regards to the immune-related response, longevity, and functionality of the grafted cells will need to be addressed in future trials. This review will summarize the current status of cell-based preclinical and clinical studies with a focus on replacement and preservation strategies and the obstacles that remain regarding these types of treatments. PMID:28111323

  1. Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases

    Science.gov (United States)

    Lin, Chi-Ying; Wang, Jie; Sims, Peter A.; Pan, Ming-Kai; Liou, Jyun-you; Lee, Danielle; Tate, William J.; Kelly, Geoffrey C.; Louis, Elan D.; Faust, Phyllis L.

    2017-01-01

    Changes in climbing fiber-Purkinje cell (CF-PC) synaptic connections have been found in the essential tremor (ET) cerebellum, and these changes are correlated with tremor severity. Whether these postmortem changes are specific to ET remains to be investigated. We assessed CF-PC synaptic pathology in the postmortem cerebellum across a range of degenerative movement disorders [10 Parkinson’s disease (PD) cases, 10 multiple system atrophy (MSA) cases, 10 spinocerebellar ataxia type 1 (SCA1) cases, and 20 ET cases] and 25 controls. We observed differences in terms of CF pathological features across these disorders. Specifically, PD cases and ET cases both had more CFs extending into the parallel fiber (PF) territory, but ET cases had more complex branching and increased length of CFs in the PF territory along with decreased CF synaptic density compared to PD cases. MSA cases and SCA1 cases had the most severely reduced CF synaptic density and a marked paucity of CFs extending into the PF territory. Furthermore, CFs in a subset of MSA cases formed collateral branches parallel to the PC layer, a feature not seen in other diagnostic groups. Using unsupervised cluster analysis, the cases and controls could all be categorized into four clusters based on the CF pathology and features of PC pathology, including counts of PCs and their axonal torpedoes. ET cases and PD cases co-segregated into two clusters, whereas SCA1 cases and MSA cases formed another cluster, separate from the control cluster. Interestingly, the presence of resting tremor seemed to be the clinical feature that separated the cases into the two ET-PD clusters. In conclusion, our study demonstrates that these degenerative movement disorders seem to differ with respect to the pattern of CF synaptic pathology they exhibit. It remains to be determined how these differences contribute to the clinical presentations of these diseases. PMID:27704282

  2. In the swim of things: recent insights to neurogenetic disorders from zebrafish.

    Science.gov (United States)

    Kabashi, Edor; Champagne, Nathalie; Brustein, Edna; Drapeau, Pierre

    2010-08-01

    The advantage of zebrafish as a model to study human pathologies lies in the ease of manipulating gene expression in vivo. Here we focus on recent progress in our understanding of motor neuron diseases and neurodevelopmental disorders and discuss how novel technologies will permit further disease models to be developed. Together these advances set the stage for this simple functional model, with particular advantages for transgenesis, multigenic analyses and chemical biology, to become uniquely suited for advancing the functional genomics of neurological and possibly psychiatric diseases - from understanding the genetics and cell biology of degenerative and developmental disorders to the discovery of therapeutics. Copyright 2010 Elsevier Ltd. All rights reserved.

  3. From Pavlov to PTSD: The extinction of conditioned fear in rodents, humans, and in anxiety disorders

    Science.gov (United States)

    VanElzakker, Michael B.; Dahlgren, M. Kathryn; Davis, F. Caroline; Dubois, Stacey; Shin, Lisa M.

    2014-01-01

    Nearly 100 years ago, Ivan Pavlov demonstrated that dogs could learn to use a neutral cue to predict a biologically relevant event: after repeated predictive pairings, Pavlov's dogs were conditioned to anticipate food at the sound of a bell, which caused them to salivate. Like sustenance, danger is biologically relevant, and neutral cues can take on great salience when they predict a threat to survival. In anxiety disorders such as posttraumatic stress disorder (PTSD), this type of conditioned fear fails to extinguish, and reminders of traumatic events can cause pathological conditioned fear responses for decades after danger has passed. In this review, we use fear conditioning and extinction studies to draw a direct line from Pavlov to PTSD and other anxiety disorders. We explain how rodent studies have informed neuroimaging studies of healthy humans and humans with PTSD. We describe several genes that have been linked to both PTSD and fear conditioning and extinction and explain how abnormalities in fear conditioning or extinction may reflect a general biomarker of anxiety disorders. Finally, we explore drug and neuromodulation treatments that may enhance therapeutic extinction in anxiety disorders. PMID:24321650

  4. From Pavlov to PTSD: the extinction of conditioned fear in rodents, humans, and anxiety disorders.

    Science.gov (United States)

    VanElzakker, Michael B; Dahlgren, M Kathryn; Davis, F Caroline; Dubois, Stacey; Shin, Lisa M

    2014-09-01

    Nearly 100 years ago, Ivan Pavlov demonstrated that dogs could learn to use a neutral cue to predict a biologically relevant event: after repeated predictive pairings, Pavlov's dogs were conditioned to anticipate food at the sound of a bell, which caused them to salivate. Like sustenance, danger is biologically relevant, and neutral cues can take on great salience when they predict a threat to survival. In anxiety disorders such as posttraumatic stress disorder (PTSD), this type of conditioned fear fails to extinguish, and reminders of traumatic events can cause pathological conditioned fear responses for decades after danger has passed. In this review, we use fear conditioning and extinction studies to draw a direct line from Pavlov to PTSD and other anxiety disorders. We explain how rodent studies have informed neuroimaging studies of healthy humans and humans with PTSD. We describe several genes that have been linked to both PTSD and fear conditioning and extinction and explain how abnormalities in fear conditioning or extinction may reflect a general biomarker of anxiety disorders. Finally, we explore drug and neuromodulation treatments that may enhance therapeutic extinction in anxiety disorders. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. A new mouse model for mania shares genetic correlates with human bipolar disorder.

    Directory of Open Access Journals (Sweden)

    Michael C Saul

    Full Text Available Bipolar disorder (BPD is a debilitating heritable psychiatric disorder. Contemporary rodent models for the manic pole of BPD have primarily utilized either single locus transgenics or treatment with psychostimulants. Our lab recently characterized a mouse strain termed Madison (MSN that naturally displays a manic phenotype, exhibiting elevated locomotor activity, increased sexual behavior, and higher forced swimming relative to control strains. Lithium chloride and olanzapine treatments attenuate this phenotype. In this study, we replicated our locomotor activity experiment, showing that MSN mice display generationally-stable mania relative to their outbred ancestral strain, hsd:ICR (ICR. We then performed a gene expression microarray experiment to compare hippocampus of MSN and ICR mice. We found dysregulation of multiple transcripts whose human orthologs are associated with BPD and other psychiatric disorders including schizophrenia and ADHD, including: Epor, Smarca4, Cmklr1, Cat, Tac1, Npsr1, Fhit, and P2rx7. RT-qPCR confirmed dysregulation for all of seven transcripts tested. Using a novel genome enrichment algorithm, we found enrichment in genome regions homologous to human loci implicated in BPD in replicated linkage studies including homologs of human cytobands 1p36, 3p14, 3q29, 6p21-22, 12q24, 16q24, and 17q25. Using a functional network analysis, we found dysregulation of a gene system related to chromatin packaging, a result convergent with recent human findings on BPD. Our findings suggest that MSN mice represent a polygenic model for the manic pole of BPD showing much of the genetic systems complexity of the corresponding human disorder. Further, the high degree of convergence between our findings and the human literature on BPD brings up novel questions about evolution by analogy in mammalian genomes.

  6. [Histopathological changes in human placentas related to hypertensive disorders].

    Science.gov (United States)

    Artico, Luciano Guimarães; Madi, José Mauro; Godoy, Alessandra Eifler Guerra; Coelho, Celso Piccoli; Rombaldi, Renato Luís; Artico, Graziela Rech

    2009-01-01

    to determine the prevalence of histopathological changes, in human placentas, related to hypertensive syndromes. a transversal study that compares histopathological changes identified in 43 placentae from hypertensive pregnant women (HypPr), with the ones from 33 placentae from normotensive pregnant women (NorPr). The weight, volume and macroscopic and microscopic occurrence of infarctions, clots, hematomas, atherosis (partial obliteration, thickness of layers and presence of blood vessels hyalinization) and Tenney-Parker changes (absent, discreet and prominent), as well as the locating of infarctions and clots (central, peripheral or the association of both) have been analyzed. The chi2 and t Student tests have been used for the statistical analysis, as well as medians, standard deviations and ratios. It has been considered as significant, p<0.05. the macroscopic study of HypPr placentae have presented lower weight (461.1 versus 572.1 g) and volume (437.4 versus 542.0 cm(3)), higher infarction (51.2 versus 45.5%; p<0.05: OR=1.15) and clots (51.2 versus 15.1%; p<0.05; OR=5.4) ratios, as compared to the NorPr's. In the HypPr and NorPr, microscopic clots have occurred in 83.7 versus 45.5% (p<0.05; OR=4.3), respectively. Atherosis and Tenney-Parker changes have been statistically associated to the hypertensive syndromes (p<0.05). the obtained data allow us to associate lower placentary weight and volume, higher ratio of macro and microscopic infarction, clots, atherosis and Tenney-Parker changes to placentae of gestations occurring with hypertensive syndromes.

  7. Role of Vitamin D in human Diseases and Disorders – An Overview

    Directory of Open Access Journals (Sweden)

    Priyanshee Gohil

    2014-06-01

    Full Text Available Vitamin D is a fat soluble vitamin and generated in human skin by ultraviolet (UV light. Today, vitamin D is considered to be a steroidal hormone and plays a central role in bone mineralization and calcium homeostasis. The active form of the vitamin D is 1, 25-dihydroxyvitamin D [1, 25-dihydroxycholecalciferol (DHCC] which mediatesproliferation, differentiation and various functions at the cellular level through Vitamin D receptors (VDR.Therefore, compromised vitamin D status is likely to be involved in progression or pathogenesis of various disorders. This assumption is consistent with findings from epidemiological studies that a compromised vitamin D status in humans increases the risk of autoimmune diseases, such as inflammatory bowel disease, rheumatoid arthritis, systemic lupus erythematosus (SLE, multiple sclerosis and type I diabetes mellitus. However, diseases like cancer, cardiovascular disorders and bone disorders are yet not focused. Thus the role of vitamin D in pathogenesis of various diseases is complex and controversial. This review briefly summarizes the role of vitamin D in development and progression of different human disorders.

  8. Association of endogenous retroviruses and long terminal repeats with human disorders

    Directory of Open Access Journals (Sweden)

    Iyoko eKatoh

    2013-09-01

    Full Text Available Since the human genome sequences became available in 2001, our knowledge about the human transposable elements which comprise ~40% of the total nucleotides has been expanding. Non- LTR (long terminal repeat retrotransposons are actively transposing in the present-day human genome, and have been found to cause ~100 identified clinical cases of varied disorders. In contrast, almost all of the human endogenous retroviruses (HERVs originating from ancient infectious retroviruses lost their infectivity and transposing activity at various times before the human-chimpanzee speciation (~6 million years ago, and no known HERV is presently infectious. Insertion of HERVs and mammalian apparent LTR retrotransposons (MaLRs into the chromosomal DNA influenced a number of host genes in various modes during human evolution. Apart from the aspect of genome evolution, HERVs and solitary LTRs being suppressed in normal biological processes can potentially act as extra transcriptional apparatuses of cellular genes by re-activation in individuals. There has been a reasonable prediction that aberrant LTR activation could trigger malignant disorders and autoimmune responses if epigenetic changes including DNA hypomethylation occur in somatic cells. Evidence supporting this hypothesis has begun to emerge only recently: a MaLR family LTR activation in the pathogenesis of Hodgkin’s lymphoma and a HERV-E antigen expression in an anti-renal cell carcinoma immune response. This mini review addresses the impacts of the remnant-form LTR retrotransposons on human pathogenesis.

  9. Axon guidance pathways served as common targets for human speech/language evolution and related disorders.

    Science.gov (United States)

    Lei, Huimeng; Yan, Zhangming; Sun, Xiaohong; Zhang, Yue; Wang, Jianhong; Ma, Caihong; Xu, Qunyuan; Wang, Rui; Jarvis, Erich D; Sun, Zhirong

    2017-11-01

    Human and several nonhuman species share the rare ability of modifying acoustic and/or syntactic features of sounds produced, i.e. vocal learning, which is the important neurobiological and behavioral substrate of human speech/language. This convergent trait was suggested to be associated with significant genomic convergence and best manifested at the ROBO-SLIT axon guidance pathway. Here we verified the significance of such genomic convergence and assessed its functional relevance to human speech/language using human genetic variation data. In normal human populations, we found the affected amino acid sites were well fixed and accompanied with significantly more associated protein-coding SNPs in the same genes than the rest genes. Diseased individuals with speech/language disorders have significant more low frequency protein coding SNPs but they preferentially occurred outside the affected genes. Such patients' SNPs were enriched in several functional categories including two axon guidance pathways (mediated by netrin and semaphorin) that interact with ROBO-SLITs. Four of the six patients have homozygous missense SNPs on PRAME gene family, one youngest gene family in human lineage, which possibly acts upon retinoic acid receptor signaling, similarly as FOXP2, to modulate axon guidance. Taken together, we suggest the axon guidance pathways (e.g. ROBO-SLIT, PRAME gene family) served as common targets for human speech/language evolution and related disorders. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Evidence Report: Risk of Cardiovascular Disease and Other Degenerative Tissue Effects from Radiation Exposure

    Science.gov (United States)

    Patel, Zarana; Huff, Janice; Saha, Janapriya; Wang, Minli; Blattnig, Steve; Wu, Honglu; Cucinotta, Francis

    2015-01-01

    Occupational radiation exposure from the space environment may result in non-cancer or non-CNS degenerative tissue diseases, such as cardiovascular disease, cataracts, and respiratory or digestive diseases. However, the magnitude of influence and mechanisms of action of radiation leading to these diseases are not well characterized. Radiation and synergistic effects of radiation cause DNA damage, persistent oxidative stress, chronic inflammation, and accelerated tissue aging and degeneration, which may lead to acute or chronic disease of susceptible organ tissues. In particular, cardiovascular pathologies such as atherosclerosis are of major concern following gamma-ray exposure. This provides evidence for possible degenerative tissue effects following exposures to ionizing radiation in the form of the GCR or SPEs expected during long-duration spaceflight. However, the existence of low dose thresholds and dose-rate and radiation quality effects, as well as mechanisms and major risk pathways, are not well-characterized. Degenerative disease risks are difficult to assess because multiple factors, including radiation, are believed to play a role in the etiology of the diseases. As additional evidence is pointing to lower, space-relevant thresholds for these degenerative effects, particularly for cardiovascular disease, additional research with cell and animal studies is required to quantify the magnitude of this risk, understand mechanisms, and determine if additional protection strategies are required.The NASA PEL (Permissive Exposure Limit)s for cataract and cardiovascular risks are based on existing human epidemiology data. Although animal and clinical astronaut data show a significant increase in cataracts following exposure and a reassessment of atomic bomb (A-bomb) data suggests an increase in cardiovascular disease from radiation exposure, additional research is required to fully understand and quantify these adverse outcomes at lower doses (less than 0.5 gray

  11. Does D-cycloserine enhance exposure therapy for anxiety disorders in humans? A meta-analysis.

    Directory of Open Access Journals (Sweden)

    Helga Rodrigues

    Full Text Available The treatment of anxiety is on the edge of a new era of combinations of pharmacologic and psychosocial interventions. A new wave of translational research has focused on the use of pharmacological agents as psychotherapy adjuvants using neurobiological insights into the mechanism of the action of certain psychological treatments such as exposure therapy. Recently, d-cycloserine (DCS an antibiotic used to treat tuberculosis has been applied to enhance exposure-based treatment for anxiety and has proved to be a promising, but as yet unproven intervention. The present study aimed to evaluate the efficacy of DCS in the enhancement of exposure therapy in anxiety disorders. A systematic review/meta-analysis was conducted. Electronic searches were conducted in the databases ISI-Web of Science, Pubmed and PsycINFO. We included only randomized, double-blind, placebo-controlled trials with humans, focusing on the role of DCS in enhancing the action of exposure therapy for anxiety disorders. We identified 328 references, 13 studies were included in our final sample: 4 on obsessive-compulsive disorder, 2 on panic disorder, 2 on social anxiety disorder, 2 on posttraumatic stress disorder, one on acrophobia, and 2 on snake phobia. The results of the present meta-analysis show that DCS enhances exposure therapy in the treatment of anxiety disorders (Cohen d =  -0.34; CI: -0.54 to -0.14, facilitating the specific process of extinction of fear. DCS seems to be effective when administered at a time close to the exposure therapy, at low doses and a limited number of times. DCS emerges as a potential new therapeutic approach for patients with refractory anxiety disorders that are unresponsive to the conventional treatments available. When administered correctly, DCS is a promising strategy for augmentation of CBT and could reduce health care costs, drop-out rates and bring faster relief to patients.

  12. Auditory Processing Disorders

    Science.gov (United States)

    ... many processes and problems contribute to APD in children. In adults, neurological disorders such as stroke, tumors, degenerative disease (such as multiple sclerosis), and head trauma can contribute to APD. APD in children and adults often is best managed by a ...

  13. Overlap of food addiction and substance use disorders definitions: analysis of animal and human studies.

    Science.gov (United States)

    Hone-Blanchet, Antoine; Fecteau, Shirley

    2014-10-01

    Food has both homeostatic and hedonic components, which makes it a potent natural reward. Food related reward could therefore promote an escalation of intake and trigger symptoms associated to withdrawal, suggesting a behavioral parallel with substance abuse. Animal and human theoretical models of food reward and addiction have emerged, raising further interrogations on the validity of a bond between Substance Use Disorders, as clinically categorized in the DSM 5, and food reward. These models propose that highly palatable food items, rich in sugar and/or fat, are overly stimulating to the brain's reward pathways. Moreover, studies have also investigated the possibility of causal link between food reward and the contemporary obesity epidemic, with obesity being potentiated and maintained due to this overwhelming food reward. Although natural rewards are a hot topic in the definition and categorization of Substance Use Disorders, proofs of concept and definite evidence are still inconclusive. This review focuses on available results from experimental studies in animal and human models exploring the concept of food addiction, in an effort to determine if it depicts a specific phenotype and if there is truly a neurobiological similarity between food addiction and Substance Use Disorders. It describes results from sugar, fat and sweet-fat bingeing in rodent models, and behavioral and neurobiological assessments in different human populations. Although pieces of behavioral and neurobiological evidence supporting a food addiction phenotype in animals and humans are interesting, it seems premature to conclude on its validity. Copyright © 2014 Elsevier Ltd. All rights reserved.

  14. Applications of CRISPR/Cas9 in retinal degenerative diseases

    Science.gov (United States)

    Peng, Ying-Qian; Tang, Luo-Sheng; Yoshida, Shigeo; Zhou, Ye-Di

    2017-01-01

    Gene therapy is a potentially effective treatment for retinal degenerative diseases. Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) system has been developed as a new genome-editing tool in ophthalmic studies. Recent advances in researches showed that CRISPR/Cas9 has been applied in generating animal models as well as gene therapy in vivo of retinitis pigmentosa (RP) and leber congenital amaurosis (LCA). It has also been shown as a potential attempt for clinic by combining with other technologies such as adeno-associated virus (AAV) and induced pluripotent stem cells (iPSCs). In this review, we highlight the main points of further prospect of using CRISPR/Cas9 in targeting retinal degeneration. We also emphasize the potential applications of this technique in treating retinal degenerative diseases. PMID:28503441

  15. Identification and Evolutionary Analysis of Potential Candidate Genes in a Human Eating Disorder

    Directory of Open Access Journals (Sweden)

    Ubadah Sabbagh

    2016-01-01

    Full Text Available The purpose of this study was to find genes linked with eating disorders and associated with both metabolic and neural systems. Our operating hypothesis was that there are genetic factors underlying some eating disorders resting in both those pathways. Specifically, we are interested in disorders that may rest in both sleep and metabolic function, generally called Night Eating Syndrome (NES. A meta-analysis of the Gene Expression Omnibus targeting the mammalian nervous system, sleep, and obesity studies was performed, yielding numerous genes of interest. Through a text-based analysis of the results, a number of potential candidate genes were identified. VGF, in particular, appeared to be relevant both to obesity and, broadly, to brain or neural development. VGF is a highly connected protein that interacts with numerous targets via proteolytically digested peptides. We examined VGF from an evolutionary perspective to determine whether other available evidence supported a role for the gene in human disease. We conclude that some of the already identified variants in VGF from human polymorphism studies may contribute to eating disorders and obesity. Our data suggest that there is enough evidence to warrant eGWAS and GWAS analysis of these genes in NES patients in a case-control study.

  16. Identification and Evolutionary Analysis of Potential Candidate Genes in a Human Eating Disorder.

    Science.gov (United States)

    Sabbagh, Ubadah; Mullegama, Saman; Wyckoff, Gerald J

    2016-01-01

    The purpose of this study was to find genes linked with eating disorders and associated with both metabolic and neural systems. Our operating hypothesis was that there are genetic factors underlying some eating disorders resting in both those pathways. Specifically, we are interested in disorders that may rest in both sleep and metabolic function, generally called Night Eating Syndrome (NES). A meta-analysis of the Gene Expression Omnibus targeting the mammalian nervous system, sleep, and obesity studies was performed, yielding numerous genes of interest. Through a text-based analysis of the results, a number of potential candidate genes were identified. VGF, in particular, appeared to be relevant both to obesity and, broadly, to brain or neural development. VGF is a highly connected protein that interacts with numerous targets via proteolytically digested peptides. We examined VGF from an evolutionary perspective to determine whether other available evidence supported a role for the gene in human disease. We conclude that some of the already identified variants in VGF from human polymorphism studies may contribute to eating disorders and obesity. Our data suggest that there is enough evidence to warrant eGWAS and GWAS analysis of these genes in NES patients in a case-control study.

  17. Inherited Retinal Degenerative Disease Clinical Trial Network. Addendum

    Science.gov (United States)

    2010-10-01

    Stargardt disease, and Usher syndrome represent the predominant forms of inherited orphan retinal degenerative diseases and are estimated to affect...working with Oxford Biomedica and a separate project with academic investigators on gene therapy for Usher lb syndrome (deaf-blindness due to a gene...s. The NEER Network will also develop standard protocols for data collection, mainta i n and expand patient databases, classified by genotype and

  18. Stem Cell-Based Therapeutic Applications in Retinal Degenerative Diseases.

    OpenAIRE

    Huang Yiming; Enzmann Volker; Ildstad Suzanne T

    2011-01-01

    Retinal degenerative diseases that target photoreceptors or the adjacent retinal pigment epithelium (RPE) affect millions of people worldwide. Retinal degeneration (RD) is found in many different forms of retinal diseases including retinitis pigmentosa (RP), age-related macular degeneration (AMD), diabetic retinopathy, cataracts, and glaucoma. Effective treatment for retinal degeneration has been widely investigated. Gene-replacement therapy has been shown to improve visual function in inheri...

  19. Pumpkin Seed Oil Extracted From Cucurbita maxima Improves Urinary Disorder in Human Overactive Bladder

    Directory of Open Access Journals (Sweden)

    Mie Nishimura

    2014-01-01

    Full Text Available The pumpkin seed oil obtained from Cucurbita pepo has been shown to be useful for the treatment of nocturia in patients with urinal disorders in several western countries. In this study, we evaluated the effect of the pumpkin seed oil from Cucurbita maxima on urinary dysfunction in human overactive bladder (OAB. Forty-five subjects were enrolled in this study. An extract of pumpkin seed oil from C. maxima (10 g of oil/day was orally administrated for 12 weeks. After 6 and 12 weeks, urinary function was evaluated using Overactive Bladder Symptom Score (OABSS. Pumpkin seed oil from C. maxima significantly reduced the degree of OABSS in the subjects. The results from our study suggest that pumpkin seed oil extracts from C. maxima as well as from C. pepo are effective for urinary disorders such as OAB in humans.

  20. Pumpkin Seed Oil Extracted From Cucurbita maxima Improves Urinary Disorder in Human Overactive Bladder.

    Science.gov (United States)

    Nishimura, Mie; Ohkawara, Tatsuya; Sato, Hiroji; Takeda, Hiroshi; Nishihira, Jun

    2014-01-01

    The pumpkin seed oil obtained from Cucurbita pepo has been shown to be useful for the treatment of nocturia in patients with urinal disorders in several western countries. In this study, we evaluated the effect of the pumpkin seed oil from Cucurbita maxima on urinary dysfunction in human overactive bladder (OAB). Forty-five subjects were enrolled in this study. An extract of pumpkin seed oil from C. maxima (10 g of oil/day) was orally administrated for 12 weeks. After 6 and 12 weeks, urinary function was evaluated using Overactive Bladder Symptom Score (OABSS). Pumpkin seed oil from C. maxima significantly reduced the degree of OABSS in the subjects. The results from our study suggest that pumpkin seed oil extracts from C. maxima as well as from C. pepo are effective for urinary disorders such as OAB in humans.

  1. Pumpkin Seed Oil Extracted From Cucurbita maxima Improves Urinary Disorder in Human Overactive Bladder

    Science.gov (United States)

    Nishimura, Mie; Ohkawara, Tatsuya; Sato, Hiroji; Takeda, Hiroshi; Nishihira, Jun

    2014-01-01

    The pumpkin seed oil obtained from Cucurbita pepo has been shown to be useful for the treatment of nocturia in patients with urinal disorders in several western countries. In this study, we evaluated the effect of the pumpkin seed oil from Cucurbita maxima on urinary dysfunction in human overactive bladder (OAB). Forty-five subjects were enrolled in this study. An extract of pumpkin seed oil from C. maxima (10 g of oil/day) was orally administrated for 12 weeks. After 6 and 12 weeks, urinary function was evaluated using Overactive Bladder Symptom Score (OABSS). Pumpkin seed oil from C. maxima significantly reduced the degree of OABSS in the subjects. The results from our study suggest that pumpkin seed oil extracts from C. maxima as well as from C. pepo are effective for urinary disorders such as OAB in humans. PMID:24872936

  2. Transferrin receptors on human reticulocytes: variation in site number in hematologic disorders

    International Nuclear Information System (INIS)

    Shumak, K.H.; Rachkewich, R.A.

    1984-01-01

    Assays of binding of 125iodine-labeled ( 125 I) human transferrin were used to study transferrin receptor sites on reticulocytes from 15 normal subjects and from 66 patients with various hematologic disorders. In normal subjects, few or no transferrin receptors were detected whereas the average number of receptors per reticulocyte varied greatly from patient to patient, ranging from 0 to 67,700 in samples, from 35 patients, on which Scatchard analysis of binding of [ 125 I]-transferrin was done. Marked heterogeneity in the number of reticulocyte transferrin receptors in different hematologic disorders was also found in assays with [ 125 I]-OKT9 (monoclonal antibody to the human transferrin receptor). The number of receptors was not correlated with either the reticulocyte count or the hemoglobin

  3. Current Applications of Chromatographic Methods in the Study of Human Body Fluids for Diagnosing Disorders.

    Science.gov (United States)

    Jóźwik, Jagoda; Kałużna-Czaplińska, Joanna

    2016-01-01

    Currently, analysis of various human body fluids is one of the most essential and promising approaches to enable the discovery of biomarkers or pathophysiological mechanisms for disorders and diseases. Analysis of these fluids is challenging due to their complex composition and unique characteristics. Development of new analytical methods in this field has made it possible to analyze body fluids with higher selectivity, sensitivity, and precision. The composition and concentration of analytes in body fluids are most often determined by chromatography-based techniques. There is no doubt that proper use of knowledge that comes from a better understanding of the role of body fluids requires the cooperation of scientists of diverse specializations, including analytical chemists, biologists, and physicians. This article summarizes current knowledge about the application of different chromatographic methods in analyses of a wide range of compounds in human body fluids in order to diagnose certain diseases and disorders.

  4. Transplantation of Human Chorion-Derived Cholinergic Progenitor Cells: a Novel Treatment for Neurological Disorders.

    Science.gov (United States)

    Mohammadi, Alireza; Maleki-Jamshid, Ali; Sanooghi, Davood; Milan, Peiman Brouki; Rahmani, Arash; Sefat, Farshid; Shahpasand, Koorosh; Soleimani, Mansoureh; Bakhtiari, Mehrdad; Belali, Rafie; Faghihi, Faezeh; Joghataei, Mohammad Taghi; Perry, George; Mozafari, Masoud

    2018-03-16

    A neurological disorder is any disorder or abnormality in the nervous system. Among different neurological disorders, Alzheimer's disease (AD) is recognized as the sixth leading cause of death globally. Considerable research has been conducted to find pioneer treatments for this devastating disorder among which cell therapy has attracted remarkable attentions over the last decade. Up to now, targeted differentiation into specific desirable cell types has remained a major obstacle to clinical application of cell therapy. Also, potential risks including uncontrolled growth of stem cells could be disastrous. In our novel protocol, we used basal forebrain cholinergic progenitor cells (BFCN) derived from human chorion-derived mesenchymal stem cells (hC-MSCs) which made it possible to obtain high-quality population of cholinergic neurons and in vivo in much shorter time period than previous established methods. Remarkably, the transplanted progenitors fully differentiated to cholinergic neurons which in turn integrated in higher cortical networks of host brains, resulting in significant improvement in cognitive assessments. This method may have profound implications in cell therapies for any other neurodegenerative disorders. Graphical Abstract ᅟ.

  5. Loss-of-function of neuroplasticity-related genes confers risk for human neurodevelopmental disorders.

    Science.gov (United States)

    Smith, Milo R; Glicksberg, Benjamin S; Li, Li; Chen, Rong; Morishita, Hirofumi; Dudley, Joel T

    2018-01-01

    High and increasing prevalence of neurodevelopmental disorders place enormous personal and economic burdens on society. Given the growing realization that the roots of neurodevelopmental disorders often lie in early childhood, there is an urgent need to identify childhood risk factors. Neurodevelopment is marked by periods of heightened experience-dependent neuroplasticity wherein neural circuitry is optimized by the environment. If these critical periods are disrupted, development of normal brain function can be permanently altered, leading to neurodevelopmental disorders. Here, we aim to systematically identify human variants in neuroplasticity-related genes that confer risk for neurodevelopmental disorders. Historically, this knowledge has been limited by a lack of techniques to identify genes related to neurodevelopmental plasticity in a high-throughput manner and a lack of methods to systematically identify mutations in these genes that confer risk for neurodevelopmental disorders. Using an integrative genomics approach, we determined loss-of-function (LOF) variants in putative plasticity genes, identified from transcriptional profiles of brain from mice with elevated plasticity, that were associated with neurodevelopmental disorders. From five shared differentially expressed genes found in two mouse models of juvenile-like elevated plasticity (juvenile wild-type or adult Lynx1-/- relative to adult wild-type) that were also genotyped in the Mount Sinai BioMe Biobank we identified multiple associations between LOF genes and increased risk for neurodevelopmental disorders across 10,510 patients linked to the Mount Sinai Electronic Medical Records (EMR), including epilepsy and schizophrenia. This work demonstrates a novel approach to identify neurodevelopmental risk genes and points toward a promising avenue to discover new drug targets to address the unmet therapeutic needs of neurodevelopmental disease.

  6. Adjacent segment disease in degenerative pathologies with posterior instrumentation

    Directory of Open Access Journals (Sweden)

    Ana Guadalupe Ramírez Olvera

    2015-03-01

    Full Text Available OBJECTIVE: To establish the real incidence of adjacent segment disease after fusion, and to identify the levels and predisposing factors for the pathology, as well as the functional results. METHODS: a retrospective case series study with level of evidence IIB, in a sample of 179 patients diagnosed with stenosis of the lumbar spine, spondylolisthesis and degenerative scoliosis, submitted to surgery in the period 2005 to December 2013, with posterior instrumentation and posterolateral fusion, with follow-up from 2007 until May 2014, in which the symptomology and radiographic findings were evaluated, to establish the diagnosis and treatment. RESULTS: the study included 179 patients diagnosed with stenosis of the lumbar spine (n=116, isthmic and degenerative spondylolisthesis (n=50 and degenerative scoliosis (n=13; during the study, 20 cases of adjacent level segment were identified, 80% of which were treated surgically with extension of the instrumentation, while 20% were treated conservatively with NSAIDs and therapeutic blocks. CONCLUSION: An incidence of 11% was found, with an average of 3.25 years in diagnosis and treatment, a prevalence of females and diagnosis of stenosis of the lumbar canal on posterior instrumentation, a predominance of levels L4-L5; 80% were treated with extension of the instrumentation. The complications were persistent radiculopathy, infection of the surgical wound, and one death due to causes not related to the lumbar pathology.

  7. MR imaging of the spine: trauma and degenerative disease

    Energy Technology Data Exchange (ETDEWEB)

    Wilmink, J.T. [Department of Radiology, University Hospital Maastricht (Netherlands)

    1999-09-01

    The purpose of this paper is to discuss the capabilities and drawbacks of MR imaging in patients with trauma to the spine and degenerative spinal conditions. In spinal trauma MR imaging is secondary to plain X-ray films and CT because of the greater availability and ease of performance of these techniques and their superior capability for detecting vertebral fractures. Magnetic resonance imaging is useful for detecting ligamentous ruptures and intraspinal mass lesions such as hematoma, and for assessing the state of the spinal cord and prognosis of a cord injury. In degenerative spinal disease the necessity is emphasized of critically evaluating the clinical relevance of any abnormal feature detected, as findings of degenerative pathology are common in individuals without symptoms. Magnetic resonance myelography permits rapid and accurate assessment of the state of the lumbar nerve roots (compressed or not). In the cervical region the quality of the myelographic picture is often degraded in patients with a narrow spinal canal. (orig.) With 10 figs., 14 refs.

  8. The development of biomarkers for degenerative musculoskeletal conditions.

    Science.gov (United States)

    Jayabalan, Prakash; Sowa, Gwendolyn A

    2014-02-01

    With an aging population, degenerative musculoskeletal conditions will become more prevalent with significantly increasing costs to society over the next several decades. The majority of these conditions are diagnosed radiographically, at which point the disease process is often more advanced and challenging to treat. The commonly available radiographic studies also do not adequately provide information as to the exact pain generator and findings often do not correlate either to patient symptoms or function. Personalized medicine involves formulating treatments based on a patient's own biology. The development of biological markers (biomarkers) pertaining to disease is a rapidly growing area within this field of medicine. For degenerative musculoskeletal conditions, biomarkers have the potential to provide an early non-invasive method of assessing the location and severity of tissue damage and presence of inflammation. By outlining mechanisms of disease they could allow the formulation of further treatment targets and through sub-categorizing patients into different groups based on their biomarker profile, one could provide more efficacious treatments for patients. The present article is a review of the development of biomarkers for these purposes specifically as they pertain to degenerative musculoskeletal conditions.

  9. Examination on Impact of Air Ions toward Human Social Disorder Behavior

    International Nuclear Information System (INIS)

    Ganesha-Tri-Chandrasa

    2000-01-01

    Air ions are something that people can not see and feel. However, they exist surrounding human life. Imbalance inhalation of air ions can affect central nervous system, and physically it will affect human activities and create social disorder behavior. Some investigations have proved the relation above and devices for anticipating ionization have been innovated and available on the market. Furthermore, it has been found that individual resistance against ionization is different between genders. Therefore it is important to study character and to anticipate effects of ions and ionization, in order to build more comfortable environment. (author)

  10. Entrainment of the circadian clock in humans: mechanism and implications for sleep disorders.

    Directory of Open Access Journals (Sweden)

    David Metcalfe

    2007-01-01

    Full Text Available Humans exhibit behaviour and physiology controlled by a circadian clock. The circadian period is genetically determined and administered by a series of interlocked autoregulatory feedback loops largely in the suprachiasmatic nuclei of the hypothalamus. The phase of the clock is, however, synchronised by a number of external environmental cues such as light. A failure or change in any one of the requisite clock components may result in the onset of a long-term sleep disorder. This review discusses the mechanism regulating circadian physiology in humans and explores how disturbances of this mechanism may result in sleep pathologies.

  11. X-ray diffraction evidence for myelin disorder in brain from humans with Alzheimer's disease.

    Science.gov (United States)

    Chia, L S; Thompson, J E; Moscarello, M A

    1984-09-05

    Wide-angle X-ray diffraction studies revealed that the lipid phase transition temperature of myelin from brain tissue of humans with Alzheimer's disease was about 12 degrees C lower than that of normal age-matched controls, indicating differences in the physical organization of the myelin lipid bilayer. Elevated levels of malondialdehyde and conjugated diene were found in brain tissue from humans with Alzheimer's disease, indicating an increased amount of lipid peroxidation over the controls. An increase in myelin disorder and in lipid peroxidation can both be correlated with aging in human brain, but the changes in myelin from humans with Alzheimer's disease are more pronounced than in normal aging. These changes might represent severe or accelerated aging.

  12. Animal models of human anxiety disorders: reappraisal from a developmental psychopathology vantage point.

    Science.gov (United States)

    Lampis, Valentina; Maziade, Michel; Battaglia, Marco

    2011-05-01

    We are witnessing a tremendous expansion of strategies and techniques that derive from basic and preclinical science to study the fine genetic, epigenetic, and proteomic regulation of behavior in the laboratory animal. In this endeavor, animal models of psychiatric illness are becoming the almost exclusive domain of basic researchers, with lesser involvement of clinician researchers in their conceptual design, and transfer into practice of new paradigms. From the side of human behavioral research, the growing interest in gene-environment interplay and the fostering of valid endophenotypes are among the few substantial innovations in the effort of linking common mental disorders to cutting-edge clinical research questions. We argue that it is time for cross-fertilization between these camps. In this article, we a) observe that the "translational divide" can-and should-be crossed by having investigators from both the basic and the clinical sides cowork on simpler, valid "endophenotypes" of neurodevelopmental relevance; b) emphasize the importance of unambiguous physiological readouts, more than behavioral equivalents of human symptoms/syndromes, for animal research; c) indicate and discuss how this could be fostered and implemented in a developmental framework of reference for some common anxiety disorders and ultimately lead to better animal models of human mental disorders.

  13. Imaging fusion (SPECT/CT) in degenerative disease of spine

    International Nuclear Information System (INIS)

    Bernal, P.; Ucros, G.; Bermudez, S.; Ocampo, M.

    2007-01-01

    Full text: Objective: To determine the utility of Fusion Imaging SPECT/CT in degenerative pathology of the spine and to establish the impact of the use of fusion imaging in spinal pain due to degenerative changes of the spine. Materials and methods: 44 Patients (M=21, F=23) average age of 63 years and with degenerative pathology of spine were sent to Diagnosis Imaging department in FSFB. Bone scintigraphy (SPECT), CT of spine (cervical: 30%, Lumbar 70%) and fusion imaging were performed in all of them. Bone scintigraphy was carried out in a gamma camera Siemens Diacam double head attached to ESOFT computer. The images were acquired in matrix 128 x 128, 20 seg/imag, 64 images. CT of spine was performed same day or two days after in Helycoidal Siemens somatom emotion CT. The fusion was done in a Dicom workstation in sagital, axial and coronal reconstruction. The findings were evaluated by 2 Nuclear Medicine physicians and 2 radiologists of the staff of FSFB in an independent way. Results: Bone scan (SPECT) and CT of 44 patients were evaluated. CT showed facet joint osteoarthrities in 27 (61.3%) patients, uncovertebral joint arthrosis in 7 (15.9%), bulging disc in 9(20.4%), spinal nucleus lesion in 7(15.9%), osteophytes in 9 (20.4%), spinal foraminal stenosis in 7 (15.9%), spondylolysis/spondylolisthesis in 4 (9%). Bone scan showed facet joint osteoarthrities in 29 (65.9%), uncovertebral joint arthrosis in 4 (9%), osteophytes in 9 (20.4%) and normal 3 (6.8%). The imaging fusion showed coincidence findings (main lesion in CT with high uptake in scintigraphy) in 34 patients (77.2%) and no coincidence in 10 (22.8%). In 15 (34.09%) patients the fusion provided additional information. The analysis of the findings of CT and SPECT showed similar results in most of the cases and the fusion didn't provide additional information but it allowed to confirm the findings but when the findings didn't match where the CT showed several findings and SPECT only one area with high uptake

  14. Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

    Science.gov (United States)

    Lazzeri, Elena; Ronconi, Elisa; Angelotti, Maria Lucia; Peired, Anna; Mazzinghi, Benedetta; Becherucci, Francesca; Conti, Sara; Sansavini, Giulia; Sisti, Alessandro; Ravaglia, Fiammetta; Lombardi, Duccio; Provenzano, Aldesia; Manonelles, Anna; Cruzado, Josep M; Giglio, Sabrina; Roperto, Rosa Maria; Materassi, Marco; Lasagni, Laura; Romagnani, Paola

    2015-08-01

    The critical role of genetic and epigenetic factors in the pathogenesis of kidney disorders is gradually becoming clear, and the need for disease models that recapitulate human kidney disorders in a personalized manner is paramount. In this study, we describe a method to select and amplify renal progenitor cultures from the urine of patients with kidney disorders. Urine-derived human renal progenitors exhibited phenotype and functional properties identical to those purified from kidney tissue, including the capacity to differentiate into tubular cells and podocytes, as demonstrated by confocal microscopy, Western blot analysis of podocyte-specific proteins, and scanning electron microscopy. Lineage tracing studies performed with conditional transgenic mice, in which podocytes are irreversibly tagged upon tamoxifen treatment (NPHS2.iCreER;mT/mG), that were subjected to doxorubicin nephropathy demonstrated that renal progenitors are the only urinary cell population that can be amplified in long-term culture. To validate the use of these cells for personalized modeling of kidney disorders, renal progenitors were obtained from (1) the urine of children with nephrotic syndrome and carrying potentially pathogenic mutations in genes encoding for podocyte proteins and (2) the urine of children without genetic alterations, as validated by next-generation sequencing. Renal progenitors obtained from patients carrying pathogenic mutations generated podocytes that exhibited an abnormal cytoskeleton structure and functional abnormalities compared with those obtained from patients with proteinuria but without genetic mutations. The results of this study demonstrate that urine-derived patient-specific renal progenitor cultures may be an innovative research tool for modeling of genetic kidney disorders. Copyright © 2015 by the American Society of Nephrology.

  15. A cross-species genetic analysis identifies candidate genes for mouse anxiety and human bipolar disorder

    Directory of Open Access Journals (Sweden)

    David G Ashbrook

    2015-07-01

    Full Text Available Bipolar disorder (BD is a significant neuropsychiatric disorder with a lifetime prevalence of ~1%. To identify genetic variants underlying BD genome-wide association studies (GWAS have been carried out. While many variants of small effect associated with BD have been identified few have yet been confirmed, partly because of the low power of GWAS due to multiple comparisons being made. Complementary mapping studies using murine models have identified genetic variants for behavioral traits linked to BD, often with high power, but these identified regions often contain too many genes for clear identification of candidate genes. In the current study we have aligned human BD GWAS results and mouse linkage studies to help define and evaluate candidate genes linked to BD, seeking to use the power of the mouse mapping with the precision of GWAS. We use quantitative trait mapping for open field test and elevated zero maze data in the largest mammalian model system, the BXD recombinant inbred mouse population, to identify genomic regions associated with these BD-like phenotypes. We then investigate these regions in whole genome data from the Psychiatric Genomics Consortium’s bipolar disorder GWAS to identify candidate genes associated with BD. Finally we establish the biological relevance and pathways of these genes in a comprehensive systems genetics analysis.We identify four genes associated with both mouse anxiety and human BD. While TNR is a novel candidate for BD, we can confirm previously suggested associations with CMYA5, MCTP1 and RXRG. A cross-species, systems genetics analysis shows that MCTP1, RXRG and TNR coexpress with genes linked to psychiatric disorders and identify the striatum as a potential site of action. CMYA5, MCTP1, RXRG and TNR are associated with mouse anxiety and human BD. We hypothesize that MCTP1, RXRG and TNR influence intercellular signaling in the striatum.

  16. The serotonergic anatomy of the developing human medulla oblongata: implications for pediatric disorders of homeostasis.

    Science.gov (United States)

    Kinney, Hannah C; Broadbelt, Kevin G; Haynes, Robin L; Rognum, Ingvar J; Paterson, David S

    2011-07-01

    The caudal serotonergic (5-HT) system is a critical component of a medullary "homeostatic network" that regulates protective responses to metabolic stressors such as hypoxia, hypercapnia, and hyperthermia. We define anatomically the caudal 5-HT system in the human medulla as 5-HT neuronal cell bodies located in the raphé (raphé obscurus, raphé magnus, and raphé pallidus), extra-raphé (gigantocellularis, paragigantocellularis lateralis, intermediate reticular zone, lateral reticular nucleus, and nucleus subtrigeminalis), and ventral surface (arcuate nucleus). These 5-HT neurons are adjacent to all of the respiratory- and autonomic-related nuclei in the medulla where they are positioned to modulate directly the responses of these effector nuclei. In the following review, we highlight the topography and development of the caudal 5-HT system in the human fetus and infant, and its inter-relationships with nicotinic, GABAergic, and cytokine receptors. We also summarize pediatric disorders in early life which we term "developmental serotonopathies" of the caudal (as well as rostral) 5-HT domain and which are associated with homeostatic imbalances. The delineation of the development and organization of the human caudal 5-HT system provides the critical foundation for the neuropathologic elucidation of its disorders directly in the human brain. Copyright © 2011 Elsevier B.V. All rights reserved.

  17. Zebrafish models for the functional genomics of neurogenetic disorders.

    Science.gov (United States)

    Kabashi, Edor; Brustein, Edna; Champagne, Nathalie; Drapeau, Pierre

    2011-03-01

    In this review, we consider recent work using zebrafish to validate and study the functional consequences of mutations of human genes implicated in a broad range of degenerative and developmental disorders of the brain and spinal cord. Also we present technical considerations for those wishing to study their own genes of interest by taking advantage of this easily manipulated and clinically relevant model organism. Zebrafish permit mutational analyses of genetic function (gain or loss of function) and the rapid validation of human variants as pathological mutations. In particular, neural degeneration can be characterized at genetic, cellular, functional, and behavioral levels. Zebrafish have been used to knock down or express mutations in zebrafish homologs of human genes and to directly express human genes bearing mutations related to neurodegenerative disorders such as spinal muscular atrophy, ataxia, hereditary spastic paraplegia, amyotrophic lateral sclerosis (ALS), epilepsy, Huntington's disease, Parkinson's disease, fronto-temporal dementia, and Alzheimer's disease. More recently, we have been using zebrafish to validate mutations of synaptic genes discovered by large-scale genomic approaches in developmental disorders such as autism, schizophrenia, and non-syndromic mental retardation. Advances in zebrafish genetics such as multigenic analyses and chemical genetics now offer a unique potential for disease research. Thus, zebrafish hold much promise for advancing the functional genomics of human diseases, the understanding of the genetics and cell biology of degenerative and developmental disorders, and the discovery of therapeutics. This article is part of a Special Issue entitled Zebrafish Models of Neurological Diseases. Copyright © 2010 Elsevier B.V. All rights reserved.

  18. Endocrine and metabolic disorders associated with human immune deficiency virus infection.

    Science.gov (United States)

    Unachukwu, C N; Uchenna, D I; Young, E E

    2009-01-01

    Many reports have described endocrine and metabolic disorders in the human immunodeficiency virus (HIV) infection. This article reviewed various reports in the literature in order to increase the awareness and thus the need for early intervention when necessary. Data were obtained from MEDLINE, Google search and otherjournals on 'HIV, Endocrinopathies/Metabolic Disorders' from 1985 till 2007. Studies related to HIV associated endocrinopathies and metabolic disorders in the last two decades were reviewed. Information on epidemiology, pathogenesis, diagnosis and treatment of the target organ endocrinopathies and metabolic disorders in HIV/AIDS were extracted from relevant literature. Endocrine and metabolic disturbances occur in the course of HIV infection. Pathogenesis includes direct infection of endocrine glands by HIV or opportunistic organisms, infiltration by neoplasms and side effects of drugs. Adrenal insufficiency is the commonest HIV endocrinopathy with cytomegalovirus adrenalitis occurring in 40-88% of cases. Thyroid dysfunction may occur as euthyroid sick syndrome or sub-clinical hypothyroidism. Hypogonadotrophic dysfunction accounts for 75% of HIV-associated hypogonadism, with prolonged amenorrhoea being three times more likely in the women. Pancreatic dysfunction may result in hypoglycaemia or diabetes mellitus (DM). Highly active antiretroviral therapy (HAART) especially protease inhibitors has been noted to result in insulin resistance and lipodystrophy. Virtually every endocrine organ is involved in the course of HIV infection. Detailed endocrinological and metabolic evaluation and appropriate treatment is necessary in the optimal management of patients with HIV infection in our environment.

  19. [Consensus statement on the clinical management of human immunodeficiency virus-associated neurocognitive disorders].

    Science.gov (United States)

    Podzamczer Palter, Daniel; Muñoz-Moreno, José A; Alcolea Rodríguez, Daniel; Alonso Villaverde, Carlos; Antela López, Antonio; Blanch Andreu, Jordi; Casado Osorio, José Luis; Galindo Puerto, M José; Garolera i Freixa, Maite; Locutura Rupérez, Jaime; Lleó Bisa, Albert; Prats París, Anna; Pérez-Valero, Ignacio; Portilla Sogorb, Joaquín; Rovira Cañellas, Alex; Téllez Molina, M Jesús; Tiraboschi, Juan Manuel; Vergara Moragues, Esperanza; Arribas López, José Ramón; Goenaga Sánchez, Miguel Ángel; de León-Naranjo, Fernando Lozano; Martínez Chamorro, Esteban; Polo Rodríguez, Rosa; Muñoz-Moreno, José A; Podzamczer, Daniel

    2014-01-01

    To develop a consensus document containing clinical recommendations for the management of human immunodeficiency virus (HIV)-associated neurocognitive disorder (HAND). We assembled a panel of experts appointed by GeSIDA and the Secretariat of the National AIDS Plan (PNS), including internal medicine physicians with expertise in the field of HIV, neuropsychologists, neurologists and neuroradiologists. Scientific information was reviewed to October 2012 in publications and conference papers. In support of the recommendations using two levels of evidence: the strength of the recommendation in the opinion of the experts (A, B, C) and the level of empirical evidence (I, II, III), two levels based on the criteria of the Infectious Disease Society of America, already used in previous documents GeSIDA/SPNS. Multiple recommendations for the clinical management of these disorders are provided, including two graphics algorithms, considering both the diagnostic and possible therapeutic strategies. Neurocognitive disorders associated with HIV infection is currently highly prevalent, are associated with a decreased quality of life and daily activities, and given the possibility of occurrence of an increase in the coming years, there is a need to adequately manage these disorders, from a diagnostic as well as therapeutic point of view, and always from a multidisciplinary perspective. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  20. Comparing ESC and iPSC—Based Models for Human Genetic Disorders

    Directory of Open Access Journals (Sweden)

    Tomer Halevy

    2014-10-01

    Full Text Available Traditionally, human disorders were studied using animal models or somatic cells taken from patients. Such studies enabled the analysis of the molecular mechanisms of numerous disorders, and led to the discovery of new treatments. Yet, these systems are limited or even irrelevant in modeling multiple genetic diseases. The isolation of human embryonic stem cells (ESCs from diseased blastocysts, the derivation of induced pluripotent stem cells (iPSCs from patients’ somatic cells, and the new technologies for genome editing of pluripotent stem cells have opened a new window of opportunities in the field of disease modeling, and enabled studying diseases that couldn’t be modeled in the past. Importantly, despite the high similarity between ESCs and iPSCs, there are several fundamental differences between these cells, which have important implications regarding disease modeling. In this review we compare ESC-based models to iPSC-based models, and highlight the advantages and disadvantages of each system. We further suggest a roadmap for how to choose the optimal strategy to model each specific disorder.

  1. Comparing ESC and iPSC-Based Models for Human Genetic Disorders.

    Science.gov (United States)

    Halevy, Tomer; Urbach, Achia

    2014-10-24

    Traditionally, human disorders were studied using animal models or somatic cells taken from patients. Such studies enabled the analysis of the molecular mechanisms of numerous disorders, and led to the discovery of new treatments. Yet, these systems are limited or even irrelevant in modeling multiple genetic diseases. The isolation of human embryonic stem cells (ESCs) from diseased blastocysts, the derivation of induced pluripotent stem cells (iPSCs) from patients' somatic cells, and the new technologies for genome editing of pluripotent stem cells have opened a new window of opportunities in the field of disease modeling, and enabled studying diseases that couldn't be modeled in the past. Importantly, despite the high similarity between ESCs and iPSCs, there are several fundamental differences between these cells, which have important implications regarding disease modeling. In this review we compare ESC-based models to iPSC-based models, and highlight the advantages and disadvantages of each system. We further suggest a roadmap for how to choose the optimal strategy to model each specific disorder.

  2. Molecular Therapy for Degenerative Disc Disease: Clues from Secretome Analysis of the Notochordal Cell-Rich Nucleus Pulposus

    Science.gov (United States)

    Matta, Ajay; Karim, M. Zia; Isenman, David E.; Erwin, W. Mark

    2017-01-01

    Degenerative disc disease (DDD) is associated with spinal pain often leading to long-term disability. However, the non-chondrodystrophic canine intervertebral disc is protected from the development of DDD, ostensibly due to its retention of notochordal cells (NC) in the nucleus pulposus (NP). In this study, we hypothesized that secretome analysis of the NC-rich NP will lead to the identification of key proteins that delay the onset of DDD. Using mass-spectrometry, we identified 303 proteins including components of TGFβ- and Wnt-signaling, anti-angiogeneic factors and proteins that inhibit axonal ingrowth in the bioactive fractions of serum free, notochordal cell derived conditioned medium (NCCM). Ingenuity Pathway Analysis revealed TGFβ1 and CTGF as major hubs in protein interaction networks. In vitro treatment with TGFβ1 and CTGF promoted the synthesis of healthy extra-cellular matrix proteins, increased cell proliferation and reduced cell death in human degenerative disc NP cells. A single intra-discal injection of recombinant TGFβ1 and CTGF proteins in a pre-clinical rat-tail disc injury model restored the NC and stem cell rich NP. In conclusion, we demonstrate the potential of TGFβ1 and CTGF to mitigate the progression of disc degeneration and the potential use of these molecules in a molecular therapy to treat the degenerative disc. PMID:28358123

  3. Transcription factor EB: from master coordinator of lysosomal pathways to candidate therapeutic target in degenerative storage diseases.

    Science.gov (United States)

    Sardiello, Marco

    2016-05-01

    The lysosome is the main catabolic hub of the cell. Owing to its role in fundamental processes such as autophagy, plasma membrane repair, mTOR signaling, and maintenance of cellular homeostasis, the lysosome has a profound influence on cellular metabolism and human health. Indeed, inefficient or impaired lysosomal function has been implicated in the pathogenesis of a number of degenerative diseases affecting various organs and tissues, most notably the brain, liver, and muscle. The discovery of the coordinated lysosomal expression and regulation (CLEAR) genetic program and its master controller, transcription factor EB (TFEB), has provided an unprecedented tool to study and manipulate lysosomal function. Most lysosome-based processes-including macromolecule degradation, autophagy, lysosomal exocytosis, and proteostasis-are under the transcriptional control of TFEB. Interestingly, impaired TFEB signaling has been suggested to be a contributing factor in the pathogenesis of several degenerative storage diseases. Preclinical studies based on TFEB exogenous expression to reinstate TFEB activity or promote CLEAR network-based lysosomal enhancement have highlighted TFEB as a candidate therapeutic target for the treatment of various degenerative storage diseases. © 2016 The Authors. Annals of the New York Academy of Sciences published by Wiley Periodicals, Inc. on behalf of New York Academy of Sciences.

  4. High-Frequency EEG Variations in Children with Autism Spectrum Disorder during Human Faces Visualization

    Directory of Open Access Journals (Sweden)

    Celina A. Reis Paula

    2017-01-01

    Full Text Available Autism spectrum disorder (ASD is a neuropsychiatric disorder characterized by the impairment in the social reciprocity, interaction/language, and behavior, with stereotypes and signs of sensory function deficits. Electroencephalography (EEG is a well-established and noninvasive tool for neurophysiological characterization and monitoring of the brain electrical activity, able to identify abnormalities related to frequency range, connectivity, and lateralization of brain functions. This research aims to evidence quantitative differences in the frequency spectrum pattern between EEG signals of children with and without ASD during visualization of human faces in three different expressions: neutral, happy, and angry. Quantitative clinical evaluations, neuropsychological evaluation, and EEG of children with and without ASD were analyzed paired by age and gender. The results showed stronger activation in higher frequencies (above 30 Hz in frontal, central, parietal, and occipital regions in the ASD group. This pattern of activation may correlate with developmental characteristics in the children with ASD.

  5. Exercise pulmonary hypertension in asymptomatic degenerative mitral regurgitation.

    Science.gov (United States)

    Magne, Julien; Lancellotti, Patrizio; Piérard, Luc A

    2010-07-06

    Current guidelines recommend mitral valve surgery for asymptomatic patients with severe degenerative mitral regurgitation and preserved left ventricular systolic function when exercise pulmonary hypertension (PHT) is present. However, the determinants of exercise PHT have not been evaluated. The aim of this study was to identify the echocardiographic predictors of exercise PHT and the impact on symptoms. Comprehensive resting and exercise transthoracic echocardiography was performed in 78 consecutive patients (age, 61+/-13 years; 56% men) with at least moderate degenerative mitral regurgitation (effective regurgitant orifice area =43+/-20 mm(2); regurgitant volume =71+/-27 mL). Exercise PHT was defined as a systolic pulmonary arterial pressure (SPAP) >60 mm Hg. Exercise PHT was present in 46% patients. In multivariable analysis, exercise effective regurgitant orifice was an independent determinant of exercise SPAP (Pexercise PHT (P=0.002). Resting PHT and exercise PHT were associated with markedly reduced 2-year symptom-free survival (36+/-14% versus 59+/-7%, P=0.04; 35+/-8% versus 75+/-7%, Pexercise PHT was identified as an independent predictor of the occurrence of symptoms (hazard ratio=3.4; P=0.002). Receiver-operating characteristics curves revealed that exercise PHT (SPAP >56 mm Hg) was more accurate than resting PHT (SPAP >36 mm Hg) in predicting the occurrence of symptoms during follow-up (P=0.032). Exercise PHT is frequent in patients with asymptomatic degenerative mitral regurgitation. Exercise mitral regurgitation severity is a strong independent predictor of both exercise SPAP and exercise PHT. Exercise PHT is associated with markedly low 2-year symptom-free survival, emphasizing the use of exercise echocardiography. An exercise SPAP >56 mm Hg accurately predicts the occurrence of symptoms.

  6. Development of Modulators Against Degenerative Aging Using Radiation Fusion Technology

    Energy Technology Data Exchange (ETDEWEB)

    Jo, Sung Kee; Jung, U.; Park, H. R.

    2010-04-15

    In this study, we selected final 20 biomarkers for the degenerative aging to develop radiation aging modeling, and validated a few of selected markers to utilize them in the screening of aging modulators. To select the biomarkers of the degenerative aging, 4 categories of aging-related markers (immune/hematopoiesis, oxidative damage, signaling molecule, lipid metabolism) were comparatively analyzed in irradiated and normally aged biosystems (cell lines or mice). In result, most of the biomarkers showed similar changes by irradiation and normal aging. Regarding the immune/hematopoiesis, the decline of immune cell functions (lymphocyte, NK cell) and Th1/Th2 imbalance, and decreased antigen-presenting of dendritic cells were observed and 10 biomarkers were selected in this category. mtDNA deletion was selected for the oxidative damage marker, 6 biomarkers including p21 and p-FOXO3a for signaling molecule biomarkers, and 3 biomarkers including the adipose tissue weight were selected for lipid metabolism. In addition, the various radiation application conditions by single/factionated irradiation and the periods after the irradiation were investigated for the optimal induction of changes of biomarker, which revealed that total 5Gy of 10 or more fractionated irradiations and 4 months or greather period were observed to be optimal. To found the basis for the screening of natural aging modulators, some selected aging biomarkers were validated by their inhibition by well-known natural agents (EGCG, HemoHIM, etc) in aged cell or mouse model. Additionally, by evaluating the reductive efficacy of 5 natural agents on the degeneration of skin and reproductive organs induced by radiation and chemicals (cyclophosphamide, etc), we established the base for the screening of degenerative diseases by various factors

  7. Development of Modulators Against Degenerative Aging Using Radiation Fusion Technology

    International Nuclear Information System (INIS)

    Jo, Sung Kee; Jung, U.; Park, H. R.

    2010-04-01

    In this study, we selected final 20 biomarkers for the degenerative aging to develop radiation aging modeling, and validated a few of selected markers to utilize them in the screening of aging modulators. To select the biomarkers of the degenerative aging, 4 categories of aging-related markers (immune/hematopoiesis, oxidative damage, signaling molecule, lipid metabolism) were comparatively analyzed in irradiated and normally aged biosystems (cell lines or mice). In result, most of the biomarkers showed similar changes by irradiation and normal aging. Regarding the immune/hematopoiesis, the decline of immune cell functions (lymphocyte, NK cell) and Th1/Th2 imbalance, and decreased antigen-presenting of dendritic cells were observed and 10 biomarkers were selected in this category. mtDNA deletion was selected for the oxidative damage marker, 6 biomarkers including p21 and p-FOXO3a for signaling molecule biomarkers, and 3 biomarkers including the adipose tissue weight were selected for lipid metabolism. In addition, the various radiation application conditions by single/factionated irradiation and the periods after the irradiation were investigated for the optimal induction of changes of biomarker, which revealed that total 5Gy of 10 or more fractionated irradiations and 4 months or greather period were observed to be optimal. To found the basis for the screening of natural aging modulators, some selected aging biomarkers were validated by their inhibition by well-known natural agents (EGCG, HemoHIM, etc) in aged cell or mouse model. Additionally, by evaluating the reductive efficacy of 5 natural agents on the degeneration of skin and reproductive organs induced by radiation and chemicals (cyclophosphamide, etc), we established the base for the screening of degenerative diseases by various factors

  8. GAD2 Alternative Transcripts in the Human Prefrontal Cortex, and in Schizophrenia and Affective Disorders.

    Directory of Open Access Journals (Sweden)

    Kasey N Davis

    Full Text Available Genetic variation and early adverse environmental events work together to increase risk for schizophrenia. γ-aminobutyric acid (GABA, the major inhibitory neurotransmitter in adult mammalian brain, plays a major role in normal brain development, and has been strongly implicated in the pathobiology of schizophrenia. GABA synthesis is controlled by two glutamic acid decarboxylase (GAD genes, GAD1 and GAD2, both of which produce a number of alternative transcripts. Genetic variants in the GAD1 gene are associated with increased risk for schizophrenia, and reduced expression of its major transcript in the human dorsolateral prefrontal cortex (DLPFC. No consistent changes in GAD2 expression have been found in brains from patients with schizophrenia. In this work, with the use of RNA sequencing and PCR technologies, we confirmed and tracked the expression of an alternative truncated transcript of GAD2 (ENST00000428517 in human control DLPFC homogenates across lifespan besides the well-known full length transcript of GAD2. In addition, using quantitative RT-PCR, expression of GAD2 full length and truncated transcripts were measured in the DLPFC of patients with schizophrenia, bipolar disorder and major depression. The expression of GAD2 full length transcript is decreased in the DLPFC of schizophrenia and bipolar disorder patients, while GAD2 truncated transcript is increased in bipolar disorder patients but decreased in schizophrenia patients. Moreover, the patients with schizophrenia with completed suicide or positive nicotine exposure showed significantly higher expression of GAD2 full length transcript. Alternative transcripts of GAD2 may be important in the growth and development of GABA-synthesizing neurons as well as abnormal GABA signaling in the DLPFC of patients with schizophrenia and affective disorders.

  9. Voxel-based analysis of cerebral glucose metabolism in AD and non-AD degenerative dementia using statistical parametric mapping

    International Nuclear Information System (INIS)

    Li Zugui; Gao Shuo; Zhang Benshu; Ma Aijun; Cai Li; Li Dacheng; Li Yansheng; Liu Lei

    2008-01-01

    between AD and non-AD degenerative dementia patients. Voxel-based analysis for evaluating 18 F-FDG PET results of degenerative dementia would be likely to be valuable in further diagnosis and evaluation of dementia-related disorders. (authors)

  10. Lower thoracic degenerative spondylithesis with concomitant lumbar spondylosis.

    Science.gov (United States)

    Hsieh, Po-Chuan; Lee, Shih-Tseng; Chen, Jyi-Feng

    2014-03-01

    Degenerative spondylolisthesis of the spine is less common in the lower thoracic region than in the lumbar and cervical regions. However, lower thoracic degenerative spondylolisthesis may develop secondary to intervertebral disc degeneration. Most of our patients are found to have concomitant lumbar spondylosis. By retrospective review of our cases, current diagnosis and treatments for this rare disease were discussed. We present a series of 5 patients who experienced low back pain, progressive numbness, weakness and even paraparesis. Initially, all of them were diagnosed with lumbar spondylosis at other clinics, and 1 patient had even received prior decompressive lumbar surgery. However, their symptoms continued to progress, even after conservative treatments or lumbar surgeries. These patients also showed wide-based gait, increased deep tendon reflex (DTR), and urinary difficulty. All these clinical presentations could not be explained solely by lumbar spondylosis. Thoracolumbar spinal magnetic resonance imaging (MRI), neurophysiologic studies such as motor evoked potential (MEP) or somatosensory evoked potential (SSEP), and dynamic thoracolumbar lateral radiography were performed, and a final diagnosis of lower thoracic degenerative spondylolisthesis was made. Bilateral facet effusions, shown by hyperintense signals in T2 MRI sequence, were observed in all patients. Neurophysiologic studies revealed conduction defect of either MEP or SSEP. One patient refused surgical management because of personal reasons. However, with the use of thoracolumbar orthosis, his symptoms/signs stabilized, although partial lower leg myelopathy was present. The other patients received surgical decompression in association with fixation/fusion procedures performed for managing the thoracolumbar lesions. Three patients became symptom-free, whereas in 1 patient, paralysis set in before the operation; this patient was able to walk with assistance 6 months after surgical decompression

  11. Stem cells as a novel tool for drug screening and treatment of degenerative diseases.

    Science.gov (United States)

    Zuba-Surma, Ewa K; Wojakowski, Wojciech; Madeja, Zbigniew; Ratajczak, Mariusz Z

    2012-01-01

    Degenerative diseases similarly as acute tissue injuries lead to massive cell loss and may cause organ failure of vital organs (e.g., heart, central nervous system). Therefore, they belong to a group of disorders that may significantly benefit from stem cells (SCs)-based therapies. Several stem and progenitor cell populations have already been described as valuable tools for developing therapeutic strategies in regenerative medicine. In particular, pluripotent stem cells (PSCs), including adult-tissue-derived PSCs, neonatal-tissue-derived SCs, embryonic stem cells (ESCs), and recently described induced pluripotent stem cells (iPSCs), are the focus of particular attention because of their capacity to differentiate into all the cell lineages. Although PSCs are predominantly envisioned to be applied for organ regeneration, they may be also successfully employed in drug screening and disease modeling. In particular, adult PSCs and iPSCs derived from patient tissues may not only be a source of cells for autologous therapies but also for individual customized in vitro drug testing and studies on the molecular mechanisms of disease. In this review, we will focus on the potential applications of SCs, especially PSCs i) in regenerative medicine therapies, ii) in studying mechanisms of disease, as well as iii) in drug screening and toxicology tests that are crucial in new drug development. In particular, we will discuss the application of SCs in developing new therapeutic approaches to treat degenerative diseases of the neural system and heart. The advantage of adult PSCs in all the above-mentioned settings is that they can be directly harvested from patient tissues and used not only as a safe non-immunogenic source of cells for therapy but also as tools for personalized drug screening and pharmacological therapies.

  12. Mitochondrial dysfunction in human skeletal muscle biopsies of lipid storage disorder.

    Science.gov (United States)

    Debashree, Bandopadhyay; Kumar, Manish; Keshava Prasad, Thottethodi Subrahmanya; Natarajan, Archana; Christopher, Rita; Nalini, Atchayaram; Bindu, Parayil Sankaran; Gayathri, Narayanappa; Srinivas Bharath, Muchukunte Mukunda

    2018-02-09

    Mitochondria regulate the balance between lipid metabolism and storage in the skeletal muscle. Altered lipid transport, metabolism and storage influence the bioenergetics, redox status and insulin signalling, contributing to cardiac and neurological diseases. Lipid storage disorders (LSDs) are neurological disorders which entail intramuscular lipid accumulation and impaired mitochondrial bioenergetics in the skeletal muscle causing progressive myopathy with muscle weakness. However, the mitochondrial changes including molecular events associated with impaired lipid storage have not been completely understood in the human skeletal muscle. We carried out morphological and biochemical analysis of mitochondrial function in muscle biopsies of human subjects with LSDs (n = 7), compared to controls (n = 10). Routine histology, enzyme histochemistry and ultrastructural analysis indicated altered muscle cell morphology and mitochondrial structure. Protein profiling of the muscle mitochondria from LSD samples (n = 5) (vs. control, n = 5) by high-throughput mass spectrometric analysis revealed that impaired metabolic processes could contribute to mitochondrial dysfunction and ensuing myopathy in LSDs. We propose that impaired fatty acid and respiratory metabolism along with increased membrane permeability, elevated lipolysis and altered cristae entail mitochondrial dysfunction in LSDs. Some of these mechanisms were unique to LSD apart from others that were common to dystrophic and inflammatory muscle pathologies. Many differentially regulated mitochondrial proteins in LSD are linked with other human diseases, indicating that mitochondrial protection via targeted drugs could be a treatment modality in LSD and related metabolic diseases. © 2018 International Society for Neurochemistry.

  13. Video Analysis of Human Gait and Posture to Determine Neurological Disorders

    Directory of Open Access Journals (Sweden)

    Ivan Lee

    2008-08-01

    Full Text Available This paper investigates the application of digital image processing techniques to the detection of neurological disorder. Visual information extracted from the postures and movements of a human gait cycle can be used by an experienced neurologist to determine the mental health of the person. However, the current visual assessment of diagnosing neurological disorder is based very much on subjective observation, and hence the accuracy of diagnosis heavily relies on experience. Other diagnostic techniques employed involve the use of imaging systems which can only be operated under highly constructed environment. A prototype has been developed in this work that is able to capture the subject's gait on video in a relatively simple setup, and from which to process the selected frames of the gait in a computer. Based on the static visual features such as swing distances and joint angles of human limbs, the system identifies patients with Parkinsonism from the test subjects. To our knowledge, it is the first time swing distances are utilized and identified as an effective means for characterizing human gait. The experimental results have shown a promising potential in medical application to assist the clinicians in diagnosing Parkinsonism.

  14. Crystal structure of human CRMP-4: correction of intensities for lattice-translocation disorder

    Energy Technology Data Exchange (ETDEWEB)

    Ponnusamy, Rajesh [Universidade Nova de Lisboa, Avenida da República, EAN, 2781-901 Oeiras (Portugal); Lebedev, Andrey A. [Research Complex at Harwell, STFC Rutherford Appleton Laboratory, Didcot OX11 0FA (United Kingdom); Pahlow, Steffen [University of Hamburg, Ohnhorststrasse 18, 22609 Hamburg (Germany); Lohkamp, Bernhard, E-mail: bernhard.lohkamp@ki.se [Karolinska Institutet, Tomtebodavägen 6, 4tr, 17177 Stockholm (Sweden); Universidade Nova de Lisboa, Avenida da República, EAN, 2781-901 Oeiras (Portugal)

    2014-06-01

    Crystals of human CRMP-4 showed severe lattice-translocation disorder. Intensities were demodulated using the so-called lattice-alignment method and a new more general method with simplified parameterization, and the structure is presented. Collapsin response mediator proteins (CRMPs) are cytosolic phosphoproteins that are mainly involved in neuronal cell development. In humans, the CRMP family comprises five members. Here, crystal structures of human CRMP-4 in a truncated and a full-length version are presented. The latter was determined from two types of crystals, which were either twinned or partially disordered. The crystal disorder was coupled with translational NCS in ordered domains and manifested itself with a rather sophisticated modulation of intensities. The data were demodulated using either the two-lattice treatment of lattice-translocation effects or a novel method in which demodulation was achieved by independent scaling of several groups of intensities. This iterative protocol does not rely on any particular parameterization of the modulation coefficients, but uses the current refined structure as a reference. The best results in terms of R factors and map correlation coefficients were obtained using this new method. The determined structures of CRMP-4 are similar to those of other CRMPs. Structural comparison allowed the confirmation of known residues, as well as the identification of new residues, that are important for the homo- and hetero-oligomerization of these proteins, which are critical to nerve-cell development. The structures provide further insight into the effects of medically relevant mutations of the DPYSL-3 gene encoding CRMP-4 and the putative enzymatic activities of CRMPs.

  15. Crystal structure of human CRMP-4: correction of intensities for lattice-translocation disorder

    International Nuclear Information System (INIS)

    Ponnusamy, Rajesh; Lebedev, Andrey A.; Pahlow, Steffen; Lohkamp, Bernhard

    2014-01-01

    Crystals of human CRMP-4 showed severe lattice-translocation disorder. Intensities were demodulated using the so-called lattice-alignment method and a new more general method with simplified parameterization, and the structure is presented. Collapsin response mediator proteins (CRMPs) are cytosolic phosphoproteins that are mainly involved in neuronal cell development. In humans, the CRMP family comprises five members. Here, crystal structures of human CRMP-4 in a truncated and a full-length version are presented. The latter was determined from two types of crystals, which were either twinned or partially disordered. The crystal disorder was coupled with translational NCS in ordered domains and manifested itself with a rather sophisticated modulation of intensities. The data were demodulated using either the two-lattice treatment of lattice-translocation effects or a novel method in which demodulation was achieved by independent scaling of several groups of intensities. This iterative protocol does not rely on any particular parameterization of the modulation coefficients, but uses the current refined structure as a reference. The best results in terms of R factors and map correlation coefficients were obtained using this new method. The determined structures of CRMP-4 are similar to those of other CRMPs. Structural comparison allowed the confirmation of known residues, as well as the identification of new residues, that are important for the homo- and hetero-oligomerization of these proteins, which are critical to nerve-cell development. The structures provide further insight into the effects of medically relevant mutations of the DPYSL-3 gene encoding CRMP-4 and the putative enzymatic activities of CRMPs

  16. Pumpkin Seed Oil Extracted From Cucurbita maxima Improves Urinary Disorder in Human Overactive Bladder

    OpenAIRE

    Nishimura, Mie; Ohkawara, Tatsuya; Sato, Hiroji; Takeda, Hiroshi; Nishihira, Jun

    2014-01-01

    The pumpkin seed oil obtained from Cucurbita pepo has been shown to be useful for the treatment of nocturia in patients with urinal disorders in several western countries. In this study, we evaluated the effect of the pumpkin seed oil from Cucurbita maxima on urinary dysfunction in human overactive bladder (OAB). Forty-five subjects were enrolled in this study. An extract of pumpkin seed oil from C. maxima (10 g of oil/day) was orally administrated for 12 weeks. After 6 and 12 weeks, urinary ...

  17. The emerging role of interleukin (IL)-1 in the pathogenesis and treatment of inflammatory and degenerative eye diseases.

    Science.gov (United States)

    Fabiani, Claudia; Sota, Jurgen; Tosi, Gian Marco; Franceschini, Rossella; Frediani, Bruno; Galeazzi, Mauro; Rigante, Donato; Cantarini, Luca

    2017-10-01

    Interleukin (IL)-1 plays a key role in the pathogenesis and thereafter in the search for specific treatments of different inflammatory and degenerative eye diseases. Indeed, an overactivity of IL-1 might be an initiating factor for many immunopathologic sceneries in the eye, as proven by the efficacy of the specific IL-1 blockade in different ocular diseases. For instance, the uveitis in monogenic autoinflammatory disorders, such as Blau syndrome and cryopyrin-associated periodic syndrome, or in complex polygenic autoinflammatory disorders, such as Behçet's disease, has been successfully treated with IL-1 blockers. Similarly, therapy with the IL-1 receptor antagonist anakinra has proven successful also in scleritis and episcleritis in the context of different rheumatic conditions. Moreover, interesting findings deriving from animal models of ocular disease have set a rational basis from a therapeutic viewpoint to manage patients also with dry eye disease and a broadening number of ocular inflammatory and degenerative conditions, which start from an imbalance between IL-1 and its receptor antagonist.

  18. Raptor Acupuncture for Treating Chronic Degenerative Joint Disease.

    Science.gov (United States)

    Choi, Keum Hwa; Buhl, Gail; Ponder, Julia

    2016-12-01

    A permanently captive 21-year-old male bald eagle was diagnosed with chronic degenerative joint disease in the right stifle with severe lameness (Grade 5) based on radiography. Clinical signs included decreased movement, vocalization, non weight-bearing on the affected limb, inappetence, depression, and pododermatitis on the left foot (bumblefoot, Grade 3). The eagle was treated with anti-inflammatory or analgesic drugs including carprofen and celecoxib. As there was no observed clinical improvement with any of the treatments, acupuncture treatment was provided. The eagle was treated with dry needle acupuncture once per week for 2 months and biweekly for another 2 months. The Traditional Eastern Medicine diagnosis of this eagle was Bony Bi syndrome. The selected acupuncture points were ST 36, LI 4, BL 40, BL 60, GB 34, and Ba Feng (Table 3). The lameness score improved from Grade 5 to Grade 1 after 4 months of acupuncture treatment. The observed pododermatitis improved from Grade 3 to Grade 0. Symptoms including inappetence and vocalizations were significantly reduced over the 4 month period. There was no significant improvement in the radiographic signs. In conclusion, acupuncture may be a potential medical option for permanently captive raptors having musculoskeletal conditions, such as degenerative joint disease. Copyright © 2016. Published by Elsevier B.V.

  19. Long term results of radiotherapy of degenerative joint diseases

    Energy Technology Data Exchange (ETDEWEB)

    Lindner, H; Freislederer, R

    1982-04-01

    At the Radiologic Department of the Staedt. Krankenhaus Passau, 473 patients with degenerative diseases in the big joints and the spine were irradiated with the caesium unit between 1971 and 1979. Among these patients, 249 could be followed up during a prolonged period (1/2 to 9 years, i.e. 4.2 years on an average). According to the categories of v. Pannewitz, 11% were pain-free at this moment, 21% showed an essential improvement, 29% showed an improvement, and 39% were not influenced by the treatment. 13.5% showed recurrent pains; these were mentioned as 'not influenced' in the statistical analysis. It is proved that the relief of pain does not depend on the age of the patients, but on the anamnesis period, the results of the X-ray examiantion, and the degree of the restriction of mobility. Due to the delay of irradiation, a preliminary treatment mostly produces a less favorable radiotherapeutic result. Compared with other therapeutic methods, the long term results of radiotherapy of degenerative joint diseases are generally favorable. This conclusion is also confirmed by the results of patients checked up more than five years after the treatment.

  20. Raptor Acupuncture for Treating Chronic Degenerative Joint Disease

    Directory of Open Access Journals (Sweden)

    Keum Hwa Choi

    2016-12-01

    Full Text Available A permanently captive 21-year-old male bald eagle was diagnosed with chronic degenerative joint disease in the right stifle with severe lameness (Grade 5 based on radiography. Clinical signs included decreased movement, vocalization, non weight-bearing on the affected limb, inappetence, depression, and pododermatitis on the left foot (bumblefoot, Grade 3. The eagle was treated with anti-inflammatory or analgesic drugs including carprofen and celecoxib. As there was no observed clinical improvement with any of the treatments, acupuncture treatment was provided. The eagle was treated with dry needle acupuncture once per week for 2 months and biweekly for another 2 months. The Traditional Eastern Medicine diagnosis of this eagle was Bony Bi syndrome. The selected acupuncture points were ST 36, LI 4, BL 40, BL 60, GB 34, and Ba Feng (Table 3. The lameness score improved from Grade 5 to Grade 1 after 4 months of acupuncture treatment. The observed pododermatitis improved from Grade 3 to Grade 0. Symptoms including inappetence and vocalizations were significantly reduced over the 4 month period. There was no significant improvement in the radiographic signs. In conclusion, acupuncture may be a potential medical option for permanently captive raptors having musculoskeletal conditions, such as degenerative joint disease.

  1. Basal ganglia, movement disorders and deep brain stimulation: advances made through non-human primate research.

    Science.gov (United States)

    Wichmann, Thomas; Bergman, Hagai; DeLong, Mahlon R

    2018-03-01

    Studies in non-human primates (NHPs) have led to major advances in our understanding of the function of the basal ganglia and of the pathophysiologic mechanisms of hypokinetic movement disorders such as Parkinson's disease and hyperkinetic disorders such as chorea and dystonia. Since the brains of NHPs are anatomically very close to those of humans, disease states and the effects of medical and surgical approaches, such as deep brain stimulation (DBS), can be more faithfully modeled in NHPs than in other species. According to the current model of the basal ganglia circuitry, which was strongly influenced by studies in NHPs, the basal ganglia are viewed as components of segregated networks that emanate from specific cortical areas, traverse the basal ganglia, and ventral thalamus, and return to the frontal cortex. Based on the presumed functional domains of the different cortical areas involved, these networks are designated as 'motor', 'oculomotor', 'associative' and 'limbic' circuits. The functions of these networks are strongly modulated by the release of dopamine in the striatum. Striatal dopamine release alters the activity of striatal projection neurons which, in turn, influences the (inhibitory) basal ganglia output. In parkinsonism, the loss of striatal dopamine results in the emergence of oscillatory burst patterns of firing of basal ganglia output neurons, increased synchrony of the discharge of neighboring basal ganglia neurons, and an overall increase in basal ganglia output. The relevance of these findings is supported by the demonstration, in NHP models of parkinsonism, of the antiparkinsonian effects of inactivation of the motor circuit at the level of the subthalamic nucleus, one of the major components of the basal ganglia. This finding also contributed strongly to the revival of the use of surgical interventions to treat patients with Parkinson's disease. While ablative procedures were first used for this purpose, they have now been largely

  2. The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.

    Science.gov (United States)

    O'Driscoll, Mark

    2017-01-01

    Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers, including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA lesions, including base modifications and strand breaks. DNA replication is fundamentally important for tissue development and homeostasis; differentiation programmes are intimately linked with stem cell division. Unsurprisingly, impairments of the DNA replication machinery can have catastrophic consequences for genome stability and cell division. Functional impacts on DNA replication and genome stability have long been known to play roles in malignant transformation through a variety of complex mechanisms, and significant further insights have been gained from studying model organisms in this context. Congenital hypomorphic defects in components of the DNA replication machinery have been and continue to be identified in humans. These disorders present with a wide range of clinical features. Indeed, in some instances, different mutations in the same gene underlie different clinical presentations. Understanding the origin and molecular basis of these features opens a window onto the range of developmental impacts of suboptimal DNA replication and genome instability in humans. Here, I will briefly overview the basic steps involved in DNA replication and the key concepts that have emerged from this area of research, before switching emphasis to the pathological consequences of defects within the DNA replication network; the human disorders. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  3. Bioinformatics analysis identifies several intrinsically disordered human E3 ubiquitin-protein ligases

    Directory of Open Access Journals (Sweden)

    Wouter Boomsma

    2016-02-01

    Full Text Available The ubiquitin-proteasome system targets misfolded proteins for degradation. Since the accumulation of such proteins is potentially harmful for the cell, their prompt removal is important. E3 ubiquitin-protein ligases mediate substrate ubiquitination by bringing together the substrate with an E2 ubiquitin-conjugating enzyme, which transfers ubiquitin to the substrate. For misfolded proteins, substrate recognition is generally delegated to molecular chaperones that subsequently interact with specific E3 ligases. An important exception is San1, a yeast E3 ligase. San1 harbors extensive regions of intrinsic disorder, which provide both conformational flexibility and sites for direct recognition of misfolded targets of vastly different conformations. So far, no mammalian ortholog of San1 is known, nor is it clear whether other E3 ligases utilize disordered regions for substrate recognition. Here, we conduct a bioinformatics analysis to examine >600 human and S. cerevisiae E3 ligases to identify enzymes that are similar to San1 in terms of function and/or mechanism of substrate recognition. An initial sequence-based database search was found to detect candidates primarily based on the homology of their ordered regions, and did not capture the unique disorder patterns that encode the functional mechanism of San1. However, by searching specifically for key features of the San1 sequence, such as long regions of intrinsic disorder embedded with short stretches predicted to be suitable for substrate interaction, we identified several E3 ligases with these characteristics. Our initial analysis revealed that another remarkable trait of San1 is shared with several candidate E3 ligases: long stretches of complete lysine suppression, which in San1 limits auto-ubiquitination. We encode these characteristic features into a San1 similarity-score, and present a set of proteins that are plausible candidates as San1 counterparts in humans. In conclusion, our work

  4. The human right to communicate and our need to listen: Learning from people with a history of childhood communication disorder.

    Science.gov (United States)

    McCormack, Jane; Baker, Elise; Crowe, Kathryn

    2018-02-01

    In 2013, the Australian Government Senate formed a committee for inquiry and report into the prevalence of speech, language, and communication disorders and speech pathology services in Australia. Submissions were sought from individuals and organisations. In this paper, submissions made by individuals with a history of childhood communication disorder were examined to explore their life experiences and the impact on their lives when the right to communicate could not be enacted. There were 305 submissions to the Australian Government Senate Committee Inquiry, of which 288 were publically accessible. In this study, the submissions (n = 17) from children or adults with a history of communication disorder (including speech, language and stuttering), who provided personal accounts of their experiences, were analysed using an interpretative phenomenological approach. Four themes emerged relating to: personal identity, life with communication disorder, the importance of help, and how life would be different without a communication disorder. This paper gives voice to children and adults with communication disorder. In listening to these voices, the impact of communication disorder on the right to communicate and on other human rights can be heard, and the need for a response is clear. However, the challenge is to determine how the voices of these individuals, and others like them, can be enabled to exert real influence on practice and policy so communication disorder will no longer be a barrier to attainment of their human rights.

  5. Biomedical and Clinical Promises of Human Pluripotent Stem Cells for Neurological Disorders

    Directory of Open Access Journals (Sweden)

    Nopporn Jongkamonwiwat

    2013-01-01

    Full Text Available Neurological disorders are characterized by the chronic and progressive loss of neuronal structures and functions. There is a variability of the onsets and causes of clinical manifestations. Cell therapy has brought a new concept to overcome brain diseases, but the advancement of this therapy is limited by the demands of specialized neurons. Human pluripotent stem cells (hPSCs have been promised as a renewable resource for generating human neurons for both laboratory and clinical purposes. By the modulations of appropriate signalling pathways, desired neuron subtypes can be obtained, and induced pluripotent stem cells (iPSCs provide genetically matched neurons for treating patients. These hPSC-derived neurons can also be used for disease modeling and drug screening. Since the most urgent problem today in transplantation is the lack of suitable donor organs and tissues, the derivation of neural progenitor cells from hPSCs has opened a new avenue for regenerative medicine. In this review, we summarize the recent reports that show how to generate neural derivatives from hPSCs, and discuss the current evidence of using these cells in animal studies. We also highlight the possibilities and concerns of translating these hPSC-derived neurons for biomedical and clinical uses in order to fight against neurological disorders.

  6. Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias.

    Directory of Open Access Journals (Sweden)

    Angelika eRichter

    2015-11-01

    Full Text Available Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e. dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans, and summarizes similar hereditary movement disorders reported in domestic animals.

  7. Pedicle subtraction osteotomy in elderly patients with degenerative sagittal imbalance.

    Science.gov (United States)

    Cho, Kyu-Jung; Kim, Ki-Tack; Kim, Whoan-Jeang; Lee, Sang-Hoon; Jung, Jae-Hoon; Kim, Young-Tae; Park, Hae-Bong

    2013-11-15

    Retrospective, radiographical analysis. To evaluate pedicle subtraction osteotomy (PSO) as a means of correcting severe degenerative sagittal imbalance in elderly patients. PSO in patients with degenerative sagittal imbalance is likely to cause more complications than in patients with iatrogenic flatback deformity. This study analyzed 34 patients who underwent fusion to the sacrum, with a minimum 2-year follow-up. Age of the patients were in the range from 58 to 73 with the mean at 65.5 years. PSO was performed at one segment in all cases, consisting of L3 (n = 26), L4 (n = 4), L2 (n = 3), and L1 (n = 1). The average number of levels fused was 8.15. Ten patients had structural interbody fusion at the lumbosacral junction. Applying PSO at one segment, the mean correction of the lordotic angle at the osteotomy site was 33.3°, of which the loss of correction (LOC) was 4.0° at the last visit. The correction of lumbar lordosis was 33.7° and the LOC was 8.5°. The sagittal C7 plumb was 215.9 mm before surgery, corrected to 35.1 mm after surgery, and changed to 95.9 mm by the last visit. The correction of the sagittal C7 plumb was 119.9 mm and the LOC was 60.9 mm. There was substantial LOC in lumbar lordosis and sagittal C7 plumb. In 10 patients with addition of posterior lumbar interbody fusion, the LOC of lumbar lordosis was 7.4°, which was less than 9° in those without it. PSO for the correction of degenerative sagittal imbalance in elderly patients resulted in correction of sagittal alignment with a significant LOC of lumbar lordosis and sagittal C7 plumb. The LOC of lumbar lordosis occurred at both the osteotomy and non-osteotomy site. The addition of anterior column support is helpful to maintain correction and reduce complications. N/A.

  8. LUMBOSACRAL TRANSITIONAL ANATOMY TYPES AND DISC DEGENERATIVE CHANGES

    Directory of Open Access Journals (Sweden)

    Chabukovska Radulovska Jasminka

    2014-07-01

    Full Text Available Background and purpose: The relationship between presence of lumbo sacral transitional vertebra (LSTV and disc degenerative changes is unclear. The aim of the study was to examine the relation between different types of LSTV and disc degenerative changes at the transitional and the adjacent cephalad segment. Material and methods: Sixty-three patients (mean age 51.48 ± 13.51 out of 200 adults with low back pain who performed MRI examination of the lumbo sacral spine, classified as positive for LSTV, were included in the study. Annular tears, disc degeneration according to Phirmann classification and disc herniations were evaluated and graded at transitional and adjacent cephalad level. Results: The severity of disc degeneration at the transitional level and the adjacent level correlated with the types of LSTV. Severe disc degenerative changes were most frequent in articulated connection LSTV types and incombined LSTV type at the transitional level and in osseus connection LSTV types at the adjacent cephalad level. These changes were more frequent in unilateral articulated connection LSTV subtype (64% vs 54%; and in unilateral osseus connection LSTV subtype (25% vs no patients at transitional level, and in bilateral osseus connection LSTV subtype (100% vs 50% at the level above. High prevalence of disc herniations was observed in articulated connection LSTV types as well as in unilateral osseus connection LSTV subtype at transitional and the adjacent cephalad level. At the transitional level higher prevalence of disc herniations was characteristic for unilateral articulated connection LSTV sub type (46%vs 41% and for unilateral osseus connection LSTV subtype (50% vs no patients. At the adjacent level higher prevalence of disc herniations was observed in bilateral articulated connection LSTV subtype (38% vs 27% and in bilateral osseus connection LSTV subtype (50% vs 25%. Conclusions: The compact osseus connection (osseus bridging vs articular

  9. Lumbosacral transitional anatomy types and disc degenerative changes

    Directory of Open Access Journals (Sweden)

    Chabukovska-Radulovska Jasminka

    2014-07-01

    Full Text Available Background and purpose: The relationship between presence of lumbosacral transitional vertebra (LSTV and disc degenerative changes is unclear. The aim of the study was to examine the relation between different types of LSTV and disc degenerative changes at the transitional and the adjacent cephalad segment. Material and methods: Sixty-three patients (mean age 51.48 ± 13.51 out of200 adults with low back pain who performed MRI examination of the lumbosacral spine, classified as positive for LSTV, were included in the study. Annular tears, disc degeneration according to Phirmann classification and disc herniations were evaluated and graded at transitional and adjacent cephalad level. Results: The severity of disc degeneration at the transitional level and the adjacent level correlated with the types of LSTV. Severe disc degenerative changes were most frequent in articulated connection LSTV types and in combined LSTV type at the transitional level and in osseus connection LSTV types at the adjacent cephalad level. These changes were more frequent in unilateral articulated connection LSTV subtype (64% vs 54%; and in unilateral osseus connection LSTV subtype (25% vs no patients at transitional level, and in bilateral osseus connection LSTV subtype (100% vs 50% at the level above. High prevalence of disc herniations was observed in articulated connection LSTV types as well as in unilateral osseus connection LSTV subtype at transitional and the adjacent cephalad level. At the transitional level higher prevalence of disc herniations was characteristic for unilateral articulated connection LSTV subtype (46%vs 41% and for unilateral osseus connection LSTV subtype (50% vs no patients. At the adjacent level higher prevalence of disc herniations was observed in bilateral articulated connection LSTV subtype (38% vs 27% and in bilateral osseus connection LSTV subtype (50% vs 25%. Conclusions: The compact osseus connection (osseus bridging vs articular

  10. Degenerative periodontal-diseases and oral osteonecrosis: The role of gene-environment interactions

    International Nuclear Information System (INIS)

    Baldi, D.; Izzotti, A.; Bonica, P.; Pera, P.; Pulliero, A.

    2009-01-01

    Chronic-degenerative dentistry diseases, including periodontal diseases and oral osteonecrosis, are widespread in human populations and represent a significant problem for public health. These diseases result from pathogenic mechanisms created by the interaction between environmental genotoxic risk-factors and genetic assets conferring individual susceptibility. Osteonecrosis occurs in subjects undergoing exposure to high doses of DNA-damaging agents for chemo- and radiotherapy of neoplastic diseases. In susceptible patients, ionizing radiation and biphosphonate-chemotherapy induce severe, progressive, and irreversible degeneration of facial bones, resulting in avascular necrosis of the jaw. This may also occur in patients receiving biphosphonate for osteoporosis therapy. Periodontal diseases include chronic, aggressive, and necrotizing periodontitis, often resulting in severe alteration of periodontal tissues and tooth loss. Cigarette smoking and chronic inflammation caused by specific bacteria are the main risk factors for periodontitis. Oxidative damage plays a fundamental pathogenic role, as established by detection of mitochondrial DNA damage in the gingival tissue of patients with periodontitis. Endogenous risk factors in dental diseases include polymorphisms for metabolic enzymes such as glutathione transferases M1 and T1, N-acetyl transferase 2, and CYP 1A1. Other genetic polymorphisms that confer susceptibility to dentistry diseases affect genes encoding metalloproteases (involved in periodontal tissue remodeling and degradation), cytokines (involved in inflammation), prothrombin, and DNA repair activities. These findings provide evidence that dentistry diseases are related to risk factors associated with environmental mutagenesis. This issue warrants future investigations aimed at improving oral health and preventing oral degenerative diseases using molecular and experimental approaches currently utilized in mutagenicity studies.

  11. Degenerative periodontal-diseases and oral osteonecrosis: The role of gene-environment interactions

    Energy Technology Data Exchange (ETDEWEB)

    Baldi, D. [Department of Medical, Biophysical, and Dentistry Sciences and Technologies, University of Genoa (Italy); Izzotti, A. [Department of Health Sciences, University of Genoa, Via A. Pastore 1 (Italy); Bonica, P.; Pera, P. [Department of Medical, Biophysical, and Dentistry Sciences and Technologies, University of Genoa (Italy); Pulliero, A., E-mail: alessandra.pulliero@unige.it [Department of Health Sciences, University of Genoa, Via A. Pastore 1 (Italy)

    2009-07-10

    Chronic-degenerative dentistry diseases, including periodontal diseases and oral osteonecrosis, are widespread in human populations and represent a significant problem for public health. These diseases result from pathogenic mechanisms created by the interaction between environmental genotoxic risk-factors and genetic assets conferring individual susceptibility. Osteonecrosis occurs in subjects undergoing exposure to high doses of DNA-damaging agents for chemo- and radiotherapy of neoplastic diseases. In susceptible patients, ionizing radiation and biphosphonate-chemotherapy induce severe, progressive, and irreversible degeneration of facial bones, resulting in avascular necrosis of the jaw. This may also occur in patients receiving biphosphonate for osteoporosis therapy. Periodontal diseases include chronic, aggressive, and necrotizing periodontitis, often resulting in severe alteration of periodontal tissues and tooth loss. Cigarette smoking and chronic inflammation caused by specific bacteria are the main risk factors for periodontitis. Oxidative damage plays a fundamental pathogenic role, as established by detection of mitochondrial DNA damage in the gingival tissue of patients with periodontitis. Endogenous risk factors in dental diseases include polymorphisms for metabolic enzymes such as glutathione transferases M1 and T1, N-acetyl transferase 2, and CYP 1A1. Other genetic polymorphisms that confer susceptibility to dentistry diseases affect genes encoding metalloproteases (involved in periodontal tissue remodeling and degradation), cytokines (involved in inflammation), prothrombin, and DNA repair activities. These findings provide evidence that dentistry diseases are related to risk factors associated with environmental mutagenesis. This issue warrants future investigations aimed at improving oral health and preventing oral degenerative diseases using molecular and experimental approaches currently utilized in mutagenicity studies.

  12. Pedicle screw-rod fixation : a feasible treatment for dogs with severe degenerative lumbosacral stenosis

    NARCIS (Netherlands)

    Tellegen, Anna R; Willems, Nicole; Tryfonidou, Marianna A; Meij, Björn P

    2015-01-01

    BACKGROUND: Degenerative lumbosacral stenosis is a common problem in large breed dogs. For severe degenerative lumbosacral stenosis, conservative treatment is often not effective and surgical intervention remains as the last treatment option. The objective of this retrospective study was to assess

  13. Health Economics and the Management of Degenerative Cervical Myelopathy.

    Science.gov (United States)

    Witiw, Christopher D; Smieliauskas, Fabrice; Fehlings, Michael G

    2018-01-01

    Degenerative cervical myelopathy (DCM) is the leading cause of spinal cord impairment worldwide. Surgical intervention has been demonstrated to be effective and is becoming standard of care. Spine surgery, however, is costly and value needs to be demonstrated. This review serves to summarize the key health economic concepts as they relate to the assessment of the value of surgery for DCM. This is followed by a discussion of current health economic research on DCM, which suggests that surgery is likely to be cost effective. The review concludes with a summary of future questions that remain unanswered, such as which patient subgroups derive the most value from surgery and which surgical approaches are the most cost effective. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Magnetic resonance imaging of canine degenerative lumbar spine diseases

    International Nuclear Information System (INIS)

    Karkkainen, M.; Punto, L.U.; Tulamo, R.M.

    1993-01-01

    Degenerative lumbar spine diseases, i.e., sacrolumbar stenosis, intervertebral disk degeneration and protrusion and spondylosis deformans of the canine lumbar spine were studied in eleven canine patients and three healthy controls using radiography and 0.02 T and 0.04 T low field magnetic resonance imaging. The T1 and T2 weighted images were obtained in sagittal and transverse planes. The loss of hydration of nucleus pulposus, taken as a sign of degeneration in the intervertebral disks, could be evaluated in both T1 and T2 weighted images. As a noninvasive method magnetic resonance imaging gave more exact information about the condition of intervertebral disks than did radiography. Sacrolumbar stenosis and compression of the spinal cord or cauda equina and surrounding tissue could be evaluated without contrast medium

  15. Nuclear microscopy in medical research. Investigations into degenerative diseases

    Energy Technology Data Exchange (ETDEWEB)

    Makjanic, J; Thong, P; Watt, F [National University of Singapore (Singapore). Dept. of Physics

    1997-03-01

    The high energy (1-4MeV) focused ion beam (nuclear microbeam) has found uses in many scientific disciplines through a wide variety of ion beam based techniques. Of the many techniques available, the powerful combination of Particle Induced X-Ray Emission (PIXE), Rutherford Backscattering Spectrometry (RBS), and Scanning Transmission Ion Microscopy (STIM) is proving to be extremely useful, particularly in the characterisation and elemental analysis of thin specimens. In this paper we briefly review these ion beam techniques, as well as the hardware required for their application. Finally, we describe the application of the PIXE, RBS and STIM techniques in conjunction with a scanning focused 2MeV proton microbeam (nuclear microscopy). The examples chosen to illustrate the potential of nuclear microscopy are recent investigations into the degenerative diseases atherosclerosis (coronary heart disease), Parkinson`s disease and Alzheimer`s disease. (author)

  16. Vitamin K, osteoporosis and degenerative diseases of ageing.

    Science.gov (United States)

    Vermeer, Cees; Theuwissen, Elke

    2011-03-01

    The function of vitamin K is to serve as a co-factor during the post-translational carboxylation of glutamate (Glu) residues into γ-carboxyglutamate (Gla) residues. The vital importance of the Gla-proteins essential for normal haemostasis is well recognized. During recent years, new Gla-containing proteins have been discovered and the vitamin K-dependent carboxylation is also essential for their function. It seems, however, that our dietary vitamin K intake is too low to support the carboxylation of at least some of these Gla-proteins. According to the triage theory, long-term vitamin K inadequacy is an independent, but modifiable risk factor for the development of degenerative diseases of ageing including osteoporosis and atherosclerosis.

  17. PHD fingers in human diseases: Disorders arising from misinterpreting epigenetic marks

    Energy Technology Data Exchange (ETDEWEB)

    Baker, Lindsey A. [Rockefeller University, Laboratory of Chromatin Biology and Epigenetics, 1230 York Avenue, Box 78, New York, NY 10065 (United States); Allis, C. David [Rockefeller University, Laboratory of Chromatin Biology and Epigenetics, 1230 York Avenue, Box 78, New York, NY 10065 (United States)], E-mail: alliscd@rockefeller.edu; Wang, Gang G. [Rockefeller University, Laboratory of Chromatin Biology and Epigenetics, 1230 York Avenue, Box 78, New York, NY 10065 (United States)], E-mail: gwang@rockefeller.edu

    2008-12-01

    Histone covalent modifications regulate many, if not all, DNA-templated processes, including gene expression and DNA damage response. The biological consequences of histone modifications are mediated partially by evolutionarily conserved 'reader/effector' modules that bind to histone marks in a modification- and context-specific fashion and subsequently enact chromatin changes or recruit other proteins to do so. Recently, the Plant Homeodomain (PHD) finger has emerged as a class of specialized 'reader' modules that, in some instances, recognize the methylation status of histone lysine residues, such as histone H3 lysine 4 (H3K4). While mutations in catalytic enzymes that mediate the addition or removal of histone modifications (i.e., 'writers' and 'erasers') are already known to be involved in various human diseases, mutations in the modification-specific 'reader' proteins are only beginning to be recognized as contributing to human diseases. For instance, point mutations, deletions or chromosomal translocations that target PHD fingers encoded by many genes (such as recombination activating gene 2 (RAG2), Inhibitor of Growth (ING), nuclear receptor-binding SET domain-containing 1 (NSD1) and Alpha Thalassaemia and Mental Retardation Syndrome, X-linked (ATRX)) have been associated with a wide range of human pathologies including immunological disorders, cancers, and neurological diseases. In this review, we will discuss the structural features of PHD fingers as well as the diseases for which direct mutation or dysregulation of the PHD finger has been reported. We propose that misinterpretation of the epigenetic marks may serve as a general mechanism for human diseases of this category. Determining the regulatory roles of histone covalent modifications in the context of human disease will allow for a more thorough understanding of normal and pathological development, and may provide innovative therapeutic strategies

  18. PHD fingers in human diseases: Disorders arising from misinterpreting epigenetic marks

    International Nuclear Information System (INIS)

    Baker, Lindsey A.; Allis, C. David; Wang, Gang G.

    2008-01-01

    Histone covalent modifications regulate many, if not all, DNA-templated processes, including gene expression and DNA damage response. The biological consequences of histone modifications are mediated partially by evolutionarily conserved 'reader/effector' modules that bind to histone marks in a modification- and context-specific fashion and subsequently enact chromatin changes or recruit other proteins to do so. Recently, the Plant Homeodomain (PHD) finger has emerged as a class of specialized 'reader' modules that, in some instances, recognize the methylation status of histone lysine residues, such as histone H3 lysine 4 (H3K4). While mutations in catalytic enzymes that mediate the addition or removal of histone modifications (i.e., 'writers' and 'erasers') are already known to be involved in various human diseases, mutations in the modification-specific 'reader' proteins are only beginning to be recognized as contributing to human diseases. For instance, point mutations, deletions or chromosomal translocations that target PHD fingers encoded by many genes (such as recombination activating gene 2 (RAG2), Inhibitor of Growth (ING), nuclear receptor-binding SET domain-containing 1 (NSD1) and Alpha Thalassaemia and Mental Retardation Syndrome, X-linked (ATRX)) have been associated with a wide range of human pathologies including immunological disorders, cancers, and neurological diseases. In this review, we will discuss the structural features of PHD fingers as well as the diseases for which direct mutation or dysregulation of the PHD finger has been reported. We propose that misinterpretation of the epigenetic marks may serve as a general mechanism for human diseases of this category. Determining the regulatory roles of histone covalent modifications in the context of human disease will allow for a more thorough understanding of normal and pathological development, and may provide innovative therapeutic strategies wherein 'chromatin readers' stand as potential drug

  19. Value of different MR techniques in diagnosis of degenerative disorders of the hyaline cartilage - in vitro study on 50 joint specimens of the knee with 1.5 T; Vergleich von verschiedenen MRT-Techniken in der Diagnose von degenerativen Knorpelerkrankungen - in-vitro-Studie an 50 Gelenkpraeparaten des Knies bei 1,5 T

    Energy Technology Data Exchange (ETDEWEB)

    Bachmann, G. [Klinikum der Univ. Giessen (Germany). Abt. Diagnostische Radiologie; Heinrichs, C. [Klinikum der Univ. Giessen (Germany). Inst. fuer Pathologie; Juergensen, I. [Klinikum der Univ. Giessen (Germany). Orthopaedische Klinik; Rominger, M. [Klinikum der Univ. Giessen (Germany). Abt. Diagnostische Radiologie; Scheiter, A. [Klinikum der Univ. Giessen (Germany). Abt. Diagnostische Radiologie; Rau, W.S. [Klinikum der Univ. Giessen (Germany). Abt. Diagnostische Radiologie

    1997-05-01

    Verbindung mit T{sub 1}-gew. SE und T{sub 2}-gew. FLASH-2D, die STIR, FISP-3 D, FLASH-3 D mit Fettsuppression und die MR-Arthrographie. Fuer jede Sequenz wurden subjektive Qualitaetskriterien, Signal-Rausch-Verhaeltnisse von Knorpel und Gelenkfluessigkeit und Nachweisraten fuer Knorpellaesionen bestimmt. Als Referenz zur MRT dienten pathologische und arthroskopische Untersuchungen, die an 186 der 300 Knorpelflaechen degenerative Veraenderungen Grad 1-4 nachwiesen. Ergebnisse: Die Defektstadien Grad 3 und 4 (65 Laesionen) waren mit den klassischen SE-Sequenzen in 67-94% nachweisbar. Die Volumentechniken (FISP-3 D und FLASH-3 D), Sequenzen mit 512er Matrix, der MTC (mit FLASH-2 D) und die MR-Arthrographie fuehrten zu einer Verbesserung der Sensitivitaet auf 82-100%. Oberflaechliche Defekte Grad 2 (65 Laesionen) hatten Nachweisraten von 3-38%, in der MR-Arthrographie betrug sie 45%. Die rein strukturellen Knorpelveraenderungen Grad 1 (56 Faelle) wurden in ca. 10% diagnostiziert. Schlussfolgerung: Die Diagnostik von Knorpelerkrankungen laesst sich gegenueber den klassischen SE-Sequenzen mit grosser Bildmatrix, verbessertem Knorpelkontrast und Volumentechnik verwenden. (orig.)

  20. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

    Science.gov (United States)

    Hamosh, Ada; Scott, Alan F; Amberger, Joanna S; Bocchini, Carol A; McKusick, Victor A

    2005-01-01

    Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

  1. Order-disorder transitions govern kinetic cooperativity and allostery of monomeric human glucokinase.

    Directory of Open Access Journals (Sweden)

    Mioara Larion

    Full Text Available Glucokinase (GCK catalyzes the rate-limiting step of glucose catabolism in the pancreas, where it functions as the body's principal glucose sensor. GCK dysfunction leads to several potentially fatal diseases including maturity-onset diabetes of the young type II (MODY-II and persistent hypoglycemic hyperinsulinemia of infancy (PHHI. GCK maintains glucose homeostasis by displaying a sigmoidal kinetic response to increasing blood glucose levels. This positive cooperativity is unique because the enzyme functions exclusively as a monomer and possesses only a single glucose binding site. Despite nearly a half century of research, the mechanistic basis for GCK's homotropic allostery remains unresolved. Here we explain GCK cooperativity in terms of large-scale, glucose-mediated disorder-order transitions using 17 isotopically labeled isoleucine methyl groups and three tryptophan side chains as sensitive nuclear magnetic resonance (NMR probes. We find that the small domain of unliganded GCK is intrinsically disordered and samples a broad conformational ensemble. We also demonstrate that small-molecule diabetes therapeutic agents and hyperinsulinemia-associated GCK mutations share a strikingly similar activation mechanism, characterized by a population shift toward a more narrow, well-ordered ensemble resembling the glucose-bound conformation. Our results support a model in which GCK generates its cooperative kinetic response at low glucose concentrations by using a millisecond disorder-order cycle of the small domain as a "time-delay loop," which is bypassed at high glucose concentrations, providing a unique mechanism to allosterically regulate the activity of human GCK under physiological conditions.

  2. The Role of Serotonin Transporter in Human Lung Development and in Neonatal Lung Disorders

    Directory of Open Access Journals (Sweden)

    E. C. C. Castro

    2017-01-01

    Full Text Available Introduction. Failure of the vascular pulmonary remodeling at birth often manifests as pulmonary hypertension (PHT and is associated with a variety of neonatal lung disorders including a uniformly fatal developmental disorder known as alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV. Serum serotonin regulation has been linked to pulmonary vascular function and disease, and serotonin transporter (SERT is thought to be one of the key regulators in these processes. We sought to find evidence of a role that SERT plays in the neonatal respiratory adaptation process and in the pathomechanism of ACD/MPV. Methods. We used histology and immunohistochemistry to determine the timetable of SERT protein expression in normal human fetal and postnatal lungs and in cases of newborn and childhood PHT of varied etiology. In addition, we tested for a SERT gene promoter defect in ACD/MPV patients. Results. We found that SERT protein expression begins at 30 weeks of gestation, increases to term, and stays high postnatally. ACD/MPV patients had diminished SERT expression without SERT promoter alteration. Conclusion. We concluded that SERT/serotonin pathway is crucial in the process of pulmonary vascular remodeling/adaptation at birth and plays a key role in the pathobiology of ACD/MPV.

  3. Human movement stochastic variability leads to diagnostic biomarkers In Autism Spectrum Disorders (ASD)

    Science.gov (United States)

    Wu, Di; Torres, Elizabeth B.; Jose, Jorge V.

    2015-03-01

    ASD is a spectrum of neurodevelopmental disorders. The high heterogeneity of the symptoms associated with the disorder impedes efficient diagnoses based on human observations. Recent advances with high-resolution MEM wearable sensors enable accurate movement measurements that may escape the naked eye. It calls for objective metrics to extract physiological relevant information from the rapidly accumulating data. In this talk we'll discuss the statistical analysis of movement data continuously collected with high-resolution sensors at 240Hz. We calculated statistical properties of speed fluctuations within the millisecond time range that closely correlate with the subjects' cognitive abilities. We computed the periodicity and synchronicity of the speed fluctuations' from their power spectrum and ensemble averaged two-point cross-correlation function. We built a two-parameter phase space from the temporal statistical analyses of the nearest neighbor fluctuations that provided a quantitative biomarker for ASD and adult normal subjects and further classified ASD severity. We also found age related developmental statistical signatures and potential ASD parental links in our movement dynamical studies. Our results may have direct clinical applications.

  4. Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders

    Directory of Open Access Journals (Sweden)

    Shuji Mizumoto

    2017-03-01

    Full Text Available The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. Glycobiological approaches revealed that mutations in DS-biosynthetic enzymes cause reductions in enzymatic activities and in the amount of synthesized DS and also disrupt the formation of collagen bundles. This review focused on the growing number of glycobiological studies on recently reported genetic diseases caused by defects in the biosynthesis of DS and DS-PGs.

  5. The control of human mesenchymal cell differentiation using nanoscale symmetry and disorder

    Science.gov (United States)

    Dalby, Matthew J.; Gadegaard, Nikolaj; Tare, Rahul; Andar, Abhay; Riehle, Mathis O.; Herzyk, Pawel; Wilkinson, Chris D. W.; Oreffo, Richard O. C.

    2007-12-01

    A key tenet of bone tissue engineering is the development of scaffold materials that can stimulate stem cell differentiation in the absence of chemical treatment to become osteoblasts without compromising material properties. At present, conventional implant materials fail owing to encapsulation by soft tissue, rather than direct bone bonding. Here, we demonstrate the use of nanoscale disorder to stimulate human mesenchymal stem cells (MSCs) to produce bone mineral in vitro, in the absence of osteogenic supplements. This approach has similar efficiency to that of cells cultured with osteogenic media. In addition, the current studies show that topographically treated MSCs have a distinct differentiation profile compared with those treated with osteogenic media, which has implications for cell therapies.

  6. The human figure drawing as related to attention-deficit hyperactivity disorder (ADHD).

    Science.gov (United States)

    Perets-Dubrovsky, Sharon; Kaveh, Michelle; Deutsh-Castel, Tsofia; Cohen, Ayala; Tirosh, Emanuel

    2010-06-01

    To assess the reliability and validity of the human figure drawing test among children with attention-deficit hyperactivity disorder (ADHD) and/or learning disability, boys (n = 136) between the ages of 8 and 10 years, with either or both ADHD and learning disability, were included. Two drawings were used: person and house, tree and person. The drawings were analyzed using the Koppitz emotional and developmental scales. Conners teacher and parent rating scales and the Matching Familiar Figure Test were administered. High intertest reliability for the emotional scale and a significant negative correlation between the 2 scales were found. The reported anxiety and learning were significantly correlated with the cognitive score. A combination of cognitive and emotional items resulted in 67% correct classification of ADHD and learning disability. This test can be used as part of the assessment of ADHD/learning disability.

  7. Diagnostic Validity of Combining History Elements and Physical Examination Tests for Traumatic and Degenerative Symptomatic Meniscal Tears.

    Science.gov (United States)

    Décary, Simon; Fallaha, Michel; Frémont, Pierre; Martel-Pelletier, Johanne; Pelletier, Jean-Pierre; Feldman, Debbie E; Sylvestre, Marie-Pierre; Vendittoli, Pascal-André; Desmeules, François

    2017-10-27

    The current approach to the clinical diagnosis of traumatic and degenerative symptomatic meniscal tears (SMTs) proposes combining history elements and physical examination tests without systematic prescription of imaging investigations, yet the evidence to support this diagnostic approach is scarce. To assess the validity of diagnostic clusters combining history elements and physical examination tests to diagnose or exclude traumatic and degenerative SMT compared with other knee disorders. Prospective diagnostic accuracy study. Patients were recruited from 2 orthopedic clinics, 2 family medicine clinics, and from a university community. A total of 279 consecutive patients who underwent consultation for a new knee complaint. Each patient was assessed independently by 2 evaluators. History elements and standardized physical examination tests performed by a physiotherapist were compared with the reference standard: an expert physicians' composite diagnosis including a clinical examination and confirmatory magnetic resonance imaging. Participating expert physicians were orthopedic surgeons (n = 3) or sport medicine physicians (n = 2). Penalized logistic regression (least absolute shrinkage and selection operator) was used to identify history elements and physical examination tests associated with the diagnosis of SMT and recursive partitioning was used to develop diagnostic clusters. Diagnostic accuracy measures were calculated including sensitivity, specificity, positive and negative predictive values, and positive and negative likelihood ratios (LR+/-) with associated 95% confidence intervals (CIs). Eighty patients had a diagnosis of SMT (28.7%), including 35 traumatic tears and 45 degenerative tears. The combination a history of trauma during a pivot, medial knee pain location, and a positive medial joint line tenderness test was able to diagnose (LR+ = 8.9; 95% CI 6.1-13.1) or exclude (LR- = 0.10; 95% CI 0.03-0.28) a traumatic SMT. Combining a history of

  8. Attention Deficit Disorder--A New Age Yuppie Disorder or an Age Old Human Characteristic Essential for Our Survival?

    Science.gov (United States)

    Orgill, Anna A.

    This brief paper suggests that Attention Deficit Disorder (ADD) may result from a specific "novelty seeking" gene which has been associated over the history of man's evolution with a biological advantage in situations where energy, risk taking, and creativity are essentials. It reviews research on the genetics of ADD which suggest that novelty…

  9. A rat model of post-traumatic stress disorder reproduces the hippocampal deficits seen in the human syndrome

    OpenAIRE

    Goswami, Sonal; Samuel, Sherin; Sierra, Olga R.; Cascardi, Michele; Paré, Denis

    2012-01-01

    Despite recent progress, the causes and pathophysiology of post-traumatic stress disorder (PTSD) remain poorly understood, partly because of ethical limitations inherent to human studies. One approach to circumvent this obstacle is to study PTSD in a valid animal model of the human syndrome. In one such model, extreme and long-lasting behavioral manifestations of anxiety develop in a subset of Lewis rats after exposure to an intense predatory threat that mimics the type of life-and-death situ...

  10. Pedicle marrow signal intensity changes in the lumbar spine: a manifestation of facet degenerative joint disease

    International Nuclear Information System (INIS)

    Morrison, J.L.; Kaplan, P.A.; Dussault, R.G.; Anderson, M.W.

    2000-01-01

    Objective. Signal intensity changes in lumbar pedicles, similar to those described in vertebral body endplates adjacent to degenerated discs, have been described as an ancillary sign of spondylolysis on MRI. The purpose of this study was to determine whether pedicle marrow signal intensity changes also occur in association with facet degenerative joint disease.Design. Eighty-nine lumbar spine MRI examinations without spondylolysis were reviewed for marrow signal intensity changes in pedicles and vertebral bodies as well as for facet degenerative joint disease.Results. Five percent (46/890) of lumbar pedicles in 23 patients had marrow signal intensity changes. Ninety-one percent (42/46) of the abnormal pedicles had adjacent degenerative joint disease of the facets, while only 21% (189/890) of normal pedicles had adjacent facet degenerative joint disease (p<0.001). Eighty-nine percent (41/46) of the pedicles with marrow signal intensity changes had adjacent degenerative disc disease.Conclusions. Pedicle marrow signal intensity changes are not a specific sign of spondylolysis; they are commonly seen with adjacent facet degenerative joint disease in the absence of spondylolysis. Pedicle marrow signal intensity changes are probably a response to abnormal stresses related to abnormal motion or loading caused by the degenerative changes in the spinal segment. (orig.)

  11. Pedicle marrow signal intensity changes in the lumbar spine: a manifestation of facet degenerative joint disease

    Energy Technology Data Exchange (ETDEWEB)

    Morrison, J.L.; Kaplan, P.A.; Dussault, R.G.; Anderson, M.W. [Dept. of Radiology, Univ. of Virginia Health System, Charlottesville, VA (United States)

    2000-12-01

    Objective. Signal intensity changes in lumbar pedicles, similar to those described in vertebral body endplates adjacent to degenerated discs, have been described as an ancillary sign of spondylolysis on MRI. The purpose of this study was to determine whether pedicle marrow signal intensity changes also occur in association with facet degenerative joint disease.Design. Eighty-nine lumbar spine MRI examinations without spondylolysis were reviewed for marrow signal intensity changes in pedicles and vertebral bodies as well as for facet degenerative joint disease.Results. Five percent (46/890) of lumbar pedicles in 23 patients had marrow signal intensity changes. Ninety-one percent (42/46) of the abnormal pedicles had adjacent degenerative joint disease of the facets, while only 21% (189/890) of normal pedicles had adjacent facet degenerative joint disease (p<0.001). Eighty-nine percent (41/46) of the pedicles with marrow signal intensity changes had adjacent degenerative disc disease.Conclusions. Pedicle marrow signal intensity changes are not a specific sign of spondylolysis; they are commonly seen with adjacent facet degenerative joint disease in the absence of spondylolysis. Pedicle marrow signal intensity changes are probably a response to abnormal stresses related to abnormal motion or loading caused by the degenerative changes in the spinal segment. (orig.)

  12. Brain Insulin Resistance at the Crossroads of Metabolic and Cognitive Disorders in Humans.

    Science.gov (United States)

    Kullmann, Stephanie; Heni, Martin; Hallschmid, Manfred; Fritsche, Andreas; Preissl, Hubert; Häring, Hans-Ulrich

    2016-10-01

    Ever since the brain was identified as an insulin-sensitive organ, evidence has rapidly accumulated that insulin action in the brain produces multiple behavioral and metabolic effects, influencing eating behavior, peripheral metabolism, and cognition. Disturbances in brain insulin action can be observed in obesity and type 2 diabetes (T2D), as well as in aging and dementia. Decreases in insulin sensitivity of central nervous pathways, i.e., brain insulin resistance, may therefore constitute a joint pathological feature of metabolic and cognitive dysfunctions. Modern neuroimaging methods have provided new means of probing brain insulin action, revealing the influence of insulin on both global and regional brain function. In this review, we highlight recent findings on brain insulin action in humans and its impact on metabolism and cognition. Furthermore, we elaborate on the most prominent factors associated with brain insulin resistance, i.e., obesity, T2D, genes, maternal metabolism, normal aging, inflammation, and dementia, and on their roles regarding causes and consequences of brain insulin resistance. We also describe the beneficial effects of enhanced brain insulin signaling on human eating behavior and cognition and discuss potential applications in the treatment of metabolic and cognitive disorders. Copyright © 2016 the American Physiological Society.

  13. Disordering of human telomeric G-quadruplex with novel antiproliferative anthrathiophenedione.

    Directory of Open Access Journals (Sweden)

    Dmitry Kaluzhny

    Full Text Available Linear heteroareneanthracenediones have been shown to interfere with DNA functions, thereby causing death of human tumor cells and their drug resistant counterparts. Here we report the interaction of our novel antiproliferative agent 4,11-bis[(2-{[acetimido]amino}ethylamino]anthra[2,3-b]thiophene-5,10-dione with telomeric DNA structures studied by isothermal titration calorimetry, circular dichroism and UV absorption spectroscopy. New compound demonstrated a high affinity (K(ass∼10⁶ M⁻¹ for human telomeric antiparallel quadruplex d(TTAGGG₄ and duplex d(TTAGGG₄∶d(CCCTAA₄. Importantly, a ∼100-fold higher affinity was determined for the ligand binding to an unordered oligonucleotide d(TTAGGG TTAGAG TTAGGG TTAGGG unable to form quadruplex structures. Moreover, in the presence of Na+ the compound caused dramatic conformational perturbation of the telomeric G-quadruplex, namely, almost complete disordering of G-quartets. Disorganization of a portion of G-quartets in the presence of K+ was also detected. Molecular dynamics simulations were performed to illustrate how the binding of one molecule of the ligand might disrupt the G-quartet adjacent to the diagonal loop of telomeric G-quadruplex. Our results provide evidence for a non-trivial mode of alteration of G-quadruplex structure by tentative antiproliferative drugs.

  14. The difficult relationship between occlusal interferences and temporomandibular disorder - insights from animal and human experimental studies.

    Science.gov (United States)

    Xie, Q; Li, X; Xu, X

    2013-04-01

    The aetiology of temporomandibular disorder (TMD) is multifactorial, and numerous studies have addressed that occlusion may be of great importance. However, whether occlusion plays a crucial role in the pathogenesis of TMD remains controversial. Study designs utilising animal models have been used to study the effects of artificial occlusal alterations. Experimental traumatic occlusion affects blood flow in the temporomandibular joint and results in changes in the condylar cartilage, and artificial occlusal interference induces masticatory muscle nociceptive responses that are associated with peripheral sensitisation and lead to central sensitisation, which maintains masticatory muscle hyperalgesia. The possibility that occlusal interference results in TMD has been investigated in humans using a double-blind randomised design. Subjects without a history of TMD show fairly good adaptation to interferences. In contrast, subjects with a history of TMD develop a significant increase in clinical signs and self-report stronger symptoms (occlusal discomfort and chewing difficulties) in response to interferences. Meanwhile, psychological factors appear meaningful for symptomatic responses to artificial interferences in subjects with a history of TMD. Thus, individual differences in vulnerability to occlusal interferences do exist. Although there are advantages and disadvantages to using human and animal occlusal interference models, these approaches are indispensable for discovering the role of occlusion in TMD pathogenesis. © 2013 Blackwell Publishing Ltd.

  15. A new web-based data mining tool for the identification of candidate genes for human genetic disorders

    NARCIS (Netherlands)

    Driel, van M.A.; Cuelenaere, K.; Kemmeren, P.P.C.W.; Leunissen, J.A.M.; Brunner, H.G.

    2003-01-01

    To identify the gene underlying a human genetic disorder can be difficult and time-consuming. Typically, positional data delimit a chromosomal region that contains between 20 and 200 genes. The choice then lies between sequencing large numbers of genes, or setting priorities by combining positional

  16. Application of stem cell-derived retinal pigmented epithelium in retinal degenerative diseases: present and future

    Directory of Open Access Journals (Sweden)

    Mingyue Luo

    2018-01-01

    Full Text Available As a constituent of blood-retinal barrier and retinal outer segment (ROS scavenger, retinal pigmented epithelium (RPE is fundamental to normal function of retina. Malfunctioning of RPE contributes to the onset and advance of retinal degenerative diseases. Up to date, RPE replacement therapy is the only possible method to completely reverse retinal degeneration. Transplantation of human RPE stem cell-derived RPE (hRPESC-RPE has shown some good results in animal models. With promising results in terms of safety and visual improvement, human embryonic stem cell-derived RPE (hESC-RPE can be expected in clinical settings in the near future. Despite twists and turns, induced pluripotent stem cell-derived RPE (iPSC-RPE is now being intensely investigated to overcome genetic and epigenetic instability. By far, only one patient has received iPSC-RPE transplant, which is a hallmark of iPSC technology development. During follow-up, no major complications such as immunogenicity or tumorigenesis have been observed. Future trials should keep focusing on the safety of stem cell-derived RPE (SC-RPE especially in long period, and better understanding of the nature of stem cell and the molecular events in the process to generate SC-RPE is necessary to the prosperity of SC-RPE clinical application.

  17. Biology and therapy of inherited retinal degenerative disease: insights from mouse models

    Science.gov (United States)

    Veleri, Shobi; Lazar, Csilla H.; Chang, Bo; Sieving, Paul A.; Banin, Eyal; Swaroop, Anand

    2015-01-01

    Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases. PMID:25650393

  18. Biology and therapy of inherited retinal degenerative disease: insights from mouse models

    Directory of Open Access Journals (Sweden)

    Shobi Veleri

    2015-02-01

    Full Text Available Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases.

  19. Application of stem cell-derived retinal pigmented epithelium in retinal degenerative diseases: present and future.

    Science.gov (United States)

    Luo, Mingyue; Chen, Youxin

    2018-01-01

    As a constituent of blood-retinal barrier and retinal outer segment (ROS) scavenger, retinal pigmented epithelium (RPE) is fundamental to normal function of retina. Malfunctioning of RPE contributes to the onset and advance of retinal degenerative diseases. Up to date, RPE replacement therapy is the only possible method to completely reverse retinal degeneration. Transplantation of human RPE stem cell-derived RPE (hRPESC-RPE) has shown some good results in animal models. With promising results in terms of safety and visual improvement, human embryonic stem cell-derived RPE (hESC-RPE) can be expected in clinical settings in the near future. Despite twists and turns, induced pluripotent stem cell-derived RPE (iPSC-RPE) is now being intensely investigated to overcome genetic and epigenetic instability. By far, only one patient has received iPSC-RPE transplant, which is a hallmark of iPSC technology development. During follow-up, no major complications such as immunogenicity or tumorigenesis have been observed. Future trials should keep focusing on the safety of stem cell-derived RPE (SC-RPE) especially in long period, and better understanding of the nature of stem cell and the molecular events in the process to generate SC-RPE is necessary to the prosperity of SC-RPE clinical application.

  20. Environmental Radon Gas and Degenerative Conditions An Overview

    Energy Technology Data Exchange (ETDEWEB)

    Groves-Kirkby, C.J. [Medical Physics Department, Northampton General Hospital, Northampton NN1 5BD (United Kingdom)]|[School of Health, University of Northampton, Northampton NN2 7AL (United Kingdom); Denman, A.R. [Medical Physics Department, Northampton General Hospital, Northampton NN1 5BD (United Kingdom); Woolridge, A.C. [School of Health, University of Northampton, Northampton NN2 7AL (United Kingdom)]|[School of Applied Sciences, University of Northampton, Northampton NN2 7AL (United Kingdom); Phillips, P.S. [School of Applied Sciences, University of Northampton, Northampton NN2 7AL (United Kingdom); Phillips, C. [School of Health, University of Northampton, Northampton NN2 7AL (United Kingdom)

    2006-07-01

    Radon, a naturally occurring radioactive gas, has variable distribution in the environment as a decay product of uranium occurring in a wide range of rocks, soils and building materials. Although radon dissipates rapidly in outdoor air, it concentrates in the built environment, and inhalation of {sup 222}Rn and its progeny {sup 218}Po and {sup 214}Po is believed to provide the majority of the radioactive dose to the respiratory system. While the connection between radon and lung cancer has long been recognised and investigated, recent studies have highlighted potential links between radon and other conditions, among them Multiple Sclerosis, Alzheimer and Parkinson Diseases, and Paget Disease of Bone. A strong case exists for clarifying the relationship between radon and these other conditions, not least since radon remediation to reduce lung cancer may conceivably have additional benefits hitherto unrecognized. The present status of the postulated links between environmental radon gas and degenerative conditions is reviewed, and recommendations for further research into levering current anti-radon campaigns are made. (authors)

  1. Health assessment of environmental pollutants: proliferative and degenerative diseases

    International Nuclear Information System (INIS)

    Stuart, B.O.

    1988-01-01

    In order to achieve a balanced approach to risk assessment between carcinogenic and non-carcinogenic health effects one must examine the risk of disease or death in the general population exposed to a particular air pollutant that can be related quantitatively to intensity and duration of exposures (National Academy of Sciences, 1983). Such risk assessment should be based upon careful evaluation of scientific findings of dose-response relationships in the chronically exposed population. Quantitative assessment of environmentally produced disease in man has proven to be complex and demanding. A variety of factors play important roles in this task. As an example, there are induction-latency periods for chronic diseases, including cancer, which may range from five to twenty-five years. The diseases themselves, whether proliferative or degenerative, may follow several stages of progression. There is only sparse epidemiological data on serious health effects that may be due to environmental as compared to occupational exposures. Exposures to chemical or radiological air contaminants do not occur singly but to a multiplicity of agents, and disease processes are frequently markedly affected by the interaction of a variety of factors, particularly that of cigarette smoking. There is growing recognition of potentially sensitive subpopulations, including the elderly and the very young, but adequate techniques for assessing the magnitude of increased risks to these groups have not yet been developed

  2. Environmental Radon Gas and Degenerative Conditions An Overview

    International Nuclear Information System (INIS)

    Groves-Kirkby, C.J.; Denman, A.R.; Woolridge, A.C.; Phillips, P.S.; Phillips, C.

    2006-01-01

    Radon, a naturally occurring radioactive gas, has variable distribution in the environment as a decay product of uranium occurring in a wide range of rocks, soils and building materials. Although radon dissipates rapidly in outdoor air, it concentrates in the built environment, and inhalation of 222 Rn and its progeny 218 Po and 214 Po is believed to provide the majority of the radioactive dose to the respiratory system. While the connection between radon and lung cancer has long been recognised and investigated, recent studies have highlighted potential links between radon and other conditions, among them Multiple Sclerosis, Alzheimer and Parkinson Diseases, and Paget Disease of Bone. A strong case exists for clarifying the relationship between radon and these other conditions, not least since radon remediation to reduce lung cancer may conceivably have additional benefits hitherto unrecognized. The present status of the postulated links between environmental radon gas and degenerative conditions is reviewed, and recommendations for further research into levering current anti-radon campaigns are made. (authors)

  3. Osteoporosis and the Management of Spinal Degenerative Disease (II)

    Science.gov (United States)

    Tomé-Bermejo, Félix; Piñera, Angel R.; Alvarez, Luis

    2017-01-01

    Osteoporosis has become a major medical problem as the aged population of the world rapidly grows. Osteoporosis predisposes patients to fracture, progressive spinal deformities, and stenosis, and is subject to be a major concern before performing spine surgery, especially with bone fusions and instrumentation. Osteoporosis has often been considered a contraindication for spinal surgery, while in some instances patients have undergone limited and inadequate procedures in order to avoid concomitant instrumentation. As the population ages and the expectations of older patients increase, the demand for surgical treatment in older patients with osteoporosis and spinal degenerative diseases becomes progressively more important. Nowadays, advances in surgical and anesthetic technology make it possible to operate successfully on elderly patients who no longer accept disabling physical conditions. This article discusses the biomechanics of the osteoporotic spine, the diagnosis and management of osteoporotic patients with spinal conditions, as well as the novel treatments, recommendations, surgical indications, strategies and instrumentation in patients with osteoporosis who need spine operations. PMID:29299490

  4. Degenerative lumbosacral stenosis in working dogs: current concepts and review.

    Science.gov (United States)

    Worth, A J; Thompson, D J; Hartman, A C

    2009-12-01

    Degenerative lumbosacral stenosis (DLSS) is characterised by intervertebral disc degeneration, with secondary bony and soft-tissue changes leading to compression of the cauda equina. Large-breed, active and working dogs are the most commonly affected by DLSS. Specific manipulative tests allow the clinician to form a high suspicion of DLSS, and initiate investigation. Changes seen using conventional radiography are unreliable, and although contrast radiography represents an improvement, advanced imaging is accepted as the diagnostic method of choice. Treatment involves decompression and/or stabilisation procedures in working dogs, although conservative management may be acceptable in pet dogs with mild signs. Prognosis for return to work is only fair, and there is a high rate of recurrence following conventional surgery. Stabilisation procedures are associated with the potential for failure of the implant, and their use has not gained universal acceptance. A new surgical procedure, dorsolateral foramenotomy, offers a potential advance in the management of DLSS. everal aspects of the pathogenesis, heritability and optimal treatment approach remain uncertain.

  5. Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

    LENUS (Irish Health Repository)

    Reardon, William

    2010-08-01

    Localised duplications, involving the MECP2 locus, at Xq28 have been associated with a syndrome comprising X-linked mental retardation, hypotonia and recurrent infections in males. We now present neuroradiological evidence that progressive cerebellar degenerative changes may also be a consistent feature of this syndrome, emerging in the second decade of life. We report seven affected males, from three different families who, in addition to the previously described clinical findings, have a reduction in the volume of the white matter and mild dilatation of the lateral ventricles. Three of the older patients show a consistent cerebellar degenerative phenotype. Furthermore, we describe the first female affected with the disorder. The female was mildly affected and shows X-inactivation in the ratio of 70:30, demonstrating that X-inactivation cannot be exclusively relied upon to spare the female carriers from symptoms. In conclusion, there is a radiological phenotype associated with Xq28 duplication which clearly demonstrates progressive degenerative cerebellar disease as part of the syndrome.

  6. A radioimmunoassay for erythropoietin: serum levels in normal human subjects and patients with hemopoietic disorders

    International Nuclear Information System (INIS)

    Rege, A.B.; Brookins, J.; Fisher, J.W.

    1982-01-01

    An RIA for Ep has been developed that is highly sensitive and specific. A homogeneous Ep preparation was labeled with 125 I by the chloramine-T method to a specific activity of 90 to 136 micro Ci/microgram and immunoreactivity of 80%. Ep antiserum, which was produced to a human urinary Ep preparation (80 U/mg of protein), was adsorbed with normal human urinary and serum proteins without any loss in sensitivity of the RIA to increase the specificity of the assay. A good correlation was seen between the RIA and the exhypoxic polycythemic mouse assay (corr. coef. 0.967; slope 1.05 and y intercept 0.75). Ep titers in sera from 175 hematologically normal human subjects exhibited a normal frequency distribution and ranged between 5.8 and 36.6 mU/ml with a mean of 14.9 +/- 4.7 (S.D.) and median of 14.3 Serum Ep titers were markedly elevated in seven patients with aplastic anemia and one patient with pure red cell aplasia (1350 to 20,640 mU/ml) and were lower than normal in two patients with polycythemia vera (8.1 and 9.4 mU/ml). The serum Ep titers in a prenephrectomy patient with chronic glomerulonephritis (32.1 mU/ml) decreased to below normal levels (9.04 mU/ml) after nephrectomy. The cord serum erythropoietin titers in 10 IDM [90.82 +/- 134.1 (S.D.) mu/ml] returned to values within the normal range (13.86 +/- 5.55) on day 3 after birth, suggesting the utility of the RIA in elucidating the role of hypoxia and/or insulin in increased erythropoiesis in IDM. The serum Ep titers in patients with anemias and polycythemias were compared to those of normal human subjects and agreed well with pathophysiologic mechanisms of these hemopoietic disorders, confirming the validity of the RIA

  7. A radioimmunoassay for erythropoietin: serum levels in normal human subjects and patients with hemopoietic disorders

    International Nuclear Information System (INIS)

    Rege, A.B.; Brookins, J.; Fisher, J.W.

    1982-01-01

    An RIA for Ep has been developed that is highly sensitive and specific. A homogeneous Ep preparation was labeled with 125 I by the chloramine-T method to a specific activity of 90 to 136 μCi/μg and immunoreactivity of 80%. Ep antiserum, which was produced to a human urinary Ep preparation (80 U/mg of protein), was adsorbed with normal human urinary and serum proteins without any loss in sensitivity of the RIA to increase the specificity of the assay. A good correlation was seen between the RIA and the exhypoxic polycythemic mouse assay (corr. coef. 0.967; slope 1.05 and ''y'' intercept 0.75). Ep titers in sera from 175 hematologically normal human subjects exhibited a normal frequency distribution and ranged between 5.8 and 36.6 mU/ml with a mean of 14.9 +/- 4.7 (S.D.) and median of 14.3. Serum Ep titers were markedly elevated in seven patients with aplastic anemia and one patient with pure red cell aplasia (1350 to 20,640 mU/ml) and were lower than normal in two patients with polycythemia vera (8.1 and 9.4 mU/ml). The serum Ep titers in a prenephrectomy patient with chronic glomerulonephritis (31.1 mU/ml) decreased to below normal levels (9.04 mU/ml) after nephrectomy. The cord serum erythropoietin titers in 10 IDM [90.82 +/- 134.1 (S.D.) mu/ml] returned to values within the normal range (13.86 +/- 5.55) on day 3 after birth, suggesting the utility of the RIA in elucidating the role of hypoxia and/or insulin in increased erythropoiesis in IDM. The serum Ep titers in patients with anemias and polycythemias were compared to those of normal human subjects and agreed well with pathophysiologic mechanisms of these hemopoietic disorders, confirming the validity of the RIA

  8. Temporal, Diagnostic, and Tissue-Specific Regulation of NRG3 Isoform Expression in Human Brain Development and Affective Disorders

    Science.gov (United States)

    Paterson, Clare; Wang, Yanhong; Hyde, Thomas M.; Weinberger, Daniel R.; Kleinman, Joel E.; Law, Amanda J.

    2018-01-01

    Objective Genes implicated in schizophrenia are enriched in networks differentially regulated during human CNS development. Neuregulin 3 (NRG3), a brain-enriched neurotrophin, undergoes alternative splicing and is implicated in several neurological disorders with developmental origins. Isoform-specific increases in NRG3 are observed in schizophrenia and associated with rs10748842, a NRG3 risk polymorphism, suggesting NRG3 transcriptional dysregulation as a molecular mechanism of risk. The authors quantitatively mapped the temporal trajectories of NRG3 isoforms (classes I–IV) in the neocortex throughout the human lifespan, examined whether tissue-specific regulation of NRG3 occurs in humans, and determined if abnormalities in NRG3 transcriptomics occur in mood disorders and are genetically determined. Method NRG3 isoform classes I–IV were quantified using quantitative real-time polymerase chain reaction in human postmortem dorsolateral prefrontal cortex from 286 nonpsychiatric control individuals, from gestational week 14 to 85 years old, and individuals diagnosed with either bipolar disorder (N=34) or major depressive disorder (N=69). Tissue-specific mapping was investigated in several human tissues. rs10748842 was genotyped in individuals with mood disorders, and association with NRG3 isoform expression examined. Results NRG3 classes displayed individually specific expression trajectories across human neocortical development and aging; classes I, II, and IV were significantly associated with developmental stage. NRG3 class I was increased in bipolar and major depressive disorder, consistent with observations in schizophrenia. NRG3 class II was increased in bipolar disorder, and class III was increased in major depression. The rs10748842 risk genotype predicted elevated class II and III expression, consistent with previous reports in the brain, with tissue-specific analyses suggesting that classes II and III are brain-specific isoforms of NRG3. Conclusions

  9. Short term outcome of posterior dynamic stabilization system in degenerative lumbar diseases

    Directory of Open Access Journals (Sweden)

    Mingyuan Yang

    2014-01-01

    Conclusion: Dynamic stabilization system treating lumbar degenerative disease showed clinical benefits with motion preservation of the operated segments, but does not have the significant advantage on motion preservation at adjacent segments, to avoid the degeneration of adjacent intervertebral disk.

  10. Identification of de novo copy number variants associated with human disorders of sexual development.

    Directory of Open Access Journals (Sweden)

    Mounia Tannour-Louet

    Full Text Available Disorders of sexual development (DSD, ranging in severity from genital abnormalities to complete sex reversal, are among the most common human birth defects with incidence rates reaching almost 3%. Although causative alterations in key genes controlling gonad development have been identified, the majority of DSD cases remain unexplained. To improve the diagnosis, we screened 116 children born with idiopathic DSD using a clinically validated array-based comparative genomic hybridization platform. 8951 controls without urogenital defects were used to compare with our cohort of affected patients. Clinically relevant imbalances were found in 21.5% of the analyzed patients. Most anomalies (74.2% evaded detection by the routinely ordered karyotype and were scattered across the genome in gene-enriched subtelomeric loci. Among these defects, confirmed de novo duplication and deletion events were noted on 1p36.33, 9p24.3 and 19q12-q13.11 for ambiguous genitalia, 10p14 and Xq28 for cryptorchidism and 12p13 and 16p11.2 for hypospadias. These variants were significantly associated with genitourinary defects (P = 6.08×10(-12. The causality of defects observed in 5p15.3, 9p24.3, 22q12.1 and Xq28 was supported by the presence of overlapping chromosomal rearrangements in several unrelated patients. In addition to known gonad determining genes including SRY and DMRT1, novel candidate genes such as FGFR2, KANK1, ADCY2 and ZEB2 were encompassed. The identification of risk germline rearrangements for urogenital birth defects may impact diagnosis and genetic counseling and contribute to the elucidation of the molecular mechanisms underlying the pathogenesis of human sexual development.

  11. Pathological study of degenerative changes of finger joints in cadavers of aged persons

    OpenAIRE

    岩田,芳之

    1987-01-01

    In the present study, soft x-ray and light microscopic examinations were carried out on 17 interphalangeal (IP) joints and 85 distal interphalangeal (DIP) joints with Heberden's nodes from 15 cadavers. Microradiograms of the IP and DIP joints were analyzed as to the degenerative changes in the antero-posterior and lateral views according to our own criteria. Degenerative changes were more severe in females than in males. Advanced degeneration was found in the index, middle and little fingers,...

  12. Detection of degenerative disease of the temporomandibular joint by bone scintigraphy: concise communication

    International Nuclear Information System (INIS)

    Goldstein, H.A.; Bloom, C.Y.

    1980-01-01

    Nine patients with facial pain were evaluated with limited bone scans. The scintigrams correlated with microscopy in all patients, although radiographs correlated with microscopy in only five patients. The degenerative disease process in the temporomandibular joint was more extensive in the patients with radiographic and scintigraphic abnormalities than in those with scintigraphic abnormalities alone. The limited bone scan appears useful in detecting early degenerative changes in the temporomandibular joint

  13. MR and MR arthrography to identify degenerative and posttraumatic diseases in the shoulder joint

    International Nuclear Information System (INIS)

    Lee, Shi-Uk; Lang, Philipp

    2000-01-01

    MR imaging provides a comprehensive evaluation of a wide spectrum of both intraarticular and extraarticular pathology of the shoulder. MR imaging enables the detection or exclusion of degenerative and posttraumatic diseases of the shoulder with a reasonable accuracy. MR arthrography is useful in the visualization of subtle anatomic details and further improves the differentiation. In this article, findings of MR imaging and MR arthrography of degenerative and posttraumatic shoulder diseases (impingement syndrome, rotator cuff tears, and glenohumeral instability) has been reviewed

  14. Degenerative Changes of the Facet Joints in Adults With Lumbar Spondylolysis.

    Science.gov (United States)

    Goda, Yuichiro; Sakai, Toshinori; Harada, Taihei; Takao, Shoichiro; Takata, Yoichiro; Higashino, Kosaku; Harada, Masafumi; Sairyo, Koichi

    2017-07-01

    Radiologic analysis using computed tomography. To analyze the degenerative changes of the facet joints in patients with spondylolysis in comparison with control subjects. Defects of the pars interarticularis are thought to result in a reduction of biomechanical stress on adjacent facet joints. Therefore, degenerative changes of the facet joints in patients with spondylolysis are expected to be less than those in patients without spondylolysis. Abdominal and pelvic multidetector computed tomography scans of 2000 subjects, performed for conditions unrelated to low back pain, were reviewed. A total of 107 patients (37 women and 70 men) with L5 spondylolysis were identified [spondylolysis (+) group]. Sex-matched and age-matched controls without spondylolysis were chosen randomly [spondylolysis (-) group]. Subjects in the spondylolysis group were subdivided into either bilateral spondylolysis or unilateral spondylolysis groups for comparison with the control group. Four radiologic findings (narrowing, sclerosis, osteophyte, and bone cyst) indicative of degenerative change of the facet joints adjacent to the L5 pars defects were evaluated and the degree of degenerative change was graded by summing the number of degenerative changes (score range, 0-4). The χ test and Mann-Whitney U test were used for statistical analysis. Significantly more degenerative changes in both L4/L5 and L5/S facet joints were found in the spondylolysis (+) group than in the spondylolysis (-) group (χ test, P spondylolysis (+) group than in the spondylolysis (-) group. Degenerative changes of the facet joints at both L4/L5 and L5/S were more severe in the unilateral spondylolysis (+) group than in the spondylolysis (-) group. Degenerative changes of the facet joints in patients with lumbar spondylolysis were more severe than those without spondylolysis.

  15. Advanced glycation end-products produced systemically and by macrophages: A common contributor to inflammation and degenerative diseases.

    Science.gov (United States)

    Byun, Kyunghee; Yoo, YongCheol; Son, Myeongjoo; Lee, Jaesuk; Jeong, Goo-Bo; Park, Young Mok; Salekdeh, Ghasem Hosseini; Lee, Bonghee

    2017-09-01

    Advanced glycation end products (AGEs) and their receptor have been implicated in the progressions of many intractable diseases, such as diabetes and atherosclerosis, and are also critical for pathologic changes in chronic degenerative diseases, such as Alzheimer's disease, Parkinson's disease, and alcoholic brain damage. Recently activated macrophages were found to be a source of AGEs, and the most abundant form of AGEs, AGE-albumin excreted by macrophages has been implicated in these diseases and to act through common pathways. AGEs inhibition has been shown to prevent the pathogenesis of AGEs-related diseases in human, and therapeutic advances have resulted in several agents that prevent their adverse effects. Recently, anti-inflammatory molecules that inhibit AGEs have been shown to be good candidates for ameliorating diabetic complications as well as degenerative diseases. This review was undertaken to present, discuss, and clarify current understanding regarding AGEs formation in association with macrophages, different diseases, therapeutic and diagnostic strategy and links with RAGE inhibition. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  16. Circulating Human Eosinophils Share a Similar Transcriptional Profile in Asthma and Other Hypereosinophilic Disorders.

    Science.gov (United States)

    Barnig, Cindy; Alsaleh, Ghada; Jung, Nicolas; Dembélé, Doulaye; Paul, Nicodème; Poirot, Anh; Uring-Lambert, Béatrice; Georgel, Philippe; de Blay, Fréderic; Bahram, Seiamak

    2015-01-01

    Eosinophils are leukocytes that are released into the peripheral blood in a phenotypically mature state and are capable of being recruited into tissues in response to appropriate stimuli. Eosinophils, traditionally considered cytotoxic effector cells, are leukocytes recruited into the airways of asthma patients where they are believed to contribute to the development of many features of the disease. This perception, however, has been challenged by recent findings suggesting that eosinophils have also immunomodulatory functions and may be involved in tissue homeostasis and wound healing. Here we describe a transcriptome-based approach-in a limited number of patients and controls-to investigate the activation state of circulating human eosinophils isolated by flow cytometry. We provide an overview of the global expression pattern in eosinophils in various relevant conditions, e.g., eosinophilic asthma, hypereosinophilic dermatological diseases, parasitosis and pulmonary aspergillosis. Compared to healthy subjects, circulating eosinophils isolated from asthma patients differed in their gene expression profile which is marked by downregulation of transcripts involved in antigen presentation, pathogen recognition and mucosal innate immunity, whereas up-regulated genes were involved in response to non-specific stimulation, wounding and maintenance of homeostasis. Eosinophils from other hypereosinophilic disorders displayed a very similar transcriptional profile. Taken together, these observations seem to indicate that eosinophils exhibit non-specific immunomodulatory functions important for tissue repair and homeostasis and suggest new roles for these cells in asthma immunobiology.

  17. Frying process in the relation fat/degenerative diseases.

    Directory of Open Access Journals (Sweden)

    Varela, G.

    1998-08-01

    Full Text Available Among the various components of the diet, fat receives very dose attention because of its relationship to several chronic degenerative diseases (CDD. Currently most of the available information on these relationships is derived from epidemiologic or experimental studies in which lipid intake is calculated using food composition tables. In most of these tables the quoted lipid content is that of raw food, whereas most foods are usually consumed only after being subjected to several culinary processes. Often there is no indication of the type of fat used in food processing in general or in frying in particular. But as it known, in the course of these processes the lipid content undergoes important qualitative and quantitative changes and not keeping them in mind may be the underlying cause of the difficulties an the confounding results in studies trying to establish the relationship between lipid intake an health. In the Mediterranean diet, about 50% of total dietary fat is derived not from the food itself but from the cooking fat, of which only a small fraction is eaten raw (as dressings and the greatest proportion is used in thermal culinary processes, mainly deep-frying. The scientific study of the process whereby fat penetrates into fried foods has shown the benefits of this cooking method. If the process is correctly carried out, the amount of fat ingested with fried foodstuffs is not greater than when other procedures involving fat are used (for example, sautening, stewing or canning in oil. Very schematically deep-frying is a technique that replaces a fraction of the water content of food by cooking fat. Consecuently, the fat composition of the fried lean foods will be the same as that cooking fat. The process is more complex with fatty foods, and there are not great changes in the total quantity of fat in the fried food before and after frying. However, there are notable quality changes and these depend on the concentration gradients

  18. PET studies in Alzheimer disease and other degenerative dementias

    International Nuclear Information System (INIS)

    Jeong, Yong; Na, Duk L.

    2003-01-01

    Neurodegenerative disorders cause a variety of dementia including Alzheimer disease, frontotemporal dementia, dementia with Lewy bodies, corticobasal degeneration, progressive supranuclear palsy, and Huntington's disease. PET scan is useful for early detection and differential diagnosis of theses dementing disorders. Also, it provides valuable information about clinico-anatomical correlation, allowing better understanding of function of brain. Here we discuss recent achievements PET studies regarding these dementing disorders. Future progress in PET technology, new tracers, and image analysis will play an important role in further clarifying the disease pathophysiology and brain functions

  19. Facet joint orientation and tropism in lumbar degenerative disc disease and spondylolisthesis.

    Science.gov (United States)

    Pichaisak, Witchate; Chotiyarnwong, Chayaporn; Chotiyarnwong, Pojchong

    2015-04-01

    Although degenerative disc disease (DDD) and degenerative spondylolisthesis (DS) are two common causes of back pain in elderly, the association between the lumbarfacet joint angle and tropism in these conditions are still unclear. To evaluate the difference in facet joint angles between normal population and lumbar degenerative disc disease and spondylolisthesis patient. The angle of lumbar facet joints were retrospectively measured with magnetic resonance imaging (MRI) to determine whether there was a difference between degenerative diseases. MRI of patients with DDD, DS, and control group at facet joint between L3-4, L4-5 and L5-S1 level were measured in axial view (60 subjects in each group). There was no difference infacetjoint angle in DDD (44.1 ± 11.9) and control (45.6 ± 8.9), but differed in DS (40.1 ± 10. 7) and control group (p = 0.010) at L4-5 level. Facet tropism showed difference between degenerative groups and control group at L4-5 level. DS group showed difference in facet joints angle and tropism when compared with control population, while DDD showed difference only in facet tropism. In addition, longitudinal studies are needed to understand the clinical significant between facet joint angle and tropism in spinal degenerative diseases.

  20. CRISPR Epigenome Editing of AKAP150 in DRG Neurons Abolishes Degenerative IVD-Induced Neuronal Activation.

    Science.gov (United States)

    Stover, Joshua D; Farhang, Niloofar; Berrett, Kristofer C; Gertz, Jason; Lawrence, Brandon; Bowles, Robby D

    2017-09-06

    Back pain is a major contributor to disability and has significant socioeconomic impacts worldwide. The degenerative intervertebral disc (IVD) has been hypothesized to contribute to back pain, but a better understanding of the interactions between the degenerative IVD and nociceptive neurons innervating the disc and treatment strategies that directly target these interactions is needed to improve our understanding and treatment of back pain. We investigated degenerative IVD-induced changes to dorsal root ganglion (DRG) neuron activity and utilized CRISPR epigenome editing as a neuromodulation strategy. By exposing DRG neurons to degenerative IVD-conditioned media under both normal and pathological IVD pH levels, we demonstrate that degenerative IVDs trigger interleukin (IL)-6-induced increases in neuron activity to thermal stimuli, which is directly mediated by AKAP and enhanced by acidic pH. Utilizing this novel information on AKAP-mediated increases in nociceptive neuron activity, we developed lentiviral CRISPR epigenome editing vectors that modulate endogenous expression of AKAP150 by targeted promoter histone methylation. When delivered to DRG neurons, these epigenome-modifying vectors abolished degenerative IVD-induced DRG-elevated neuron activity while preserving non-pathologic neuron activity. This work elucidates the potential for CRISPR epigenome editing as a targeted gene-based pain neuromodulation strategy. Copyright © 2017 The American Society of Gene and Cell Therapy. Published by Elsevier Inc. All rights reserved.

  1. Lumbar paraspinal muscle transverse area and symmetry in dogs with and without degenerative lumbosacral stenosis.

    Science.gov (United States)

    Henderson, A L; Hecht, S; Millis, D L

    2015-10-01

    To investigate whether dogs with degenerative lumbosacral stenosis have decreased lumbar paraspinal muscle transverse area and symmetry compared with control dogs. Retrospective cross-sectional study comparing muscles in transverse T2-weighted magnetic resonance images for nine dogs with and nine dogs without degenerative -lumbosacral stenosis. Mean transverse area was measured for the lumbar multifidus and sacrocaudalis dorsalis lateralis muscles bilaterally and the L7 vertebral body at the level of the caudal endplate. Transverse areas of both muscle groups relative to L7 and asymmetry indices were compared between study populations using independent t tests. Mean muscle-to-L7 transverse area ratios were significantly smaller in the degenerative lumbosacral stenosis group compared with those in the control group in both lumbar multifidus (0·84 ±0·26 versus 1·09 ±0·25; P=0·027) and sacrocaudalis dorsalis lateralis (0·5 ±0·15 versus 0·68 ±0·12; P=0·005) muscles. Mean asymmetry indices were higher for both muscles in the group with degenerative lumbosacral stenosis than in the control group, but highly variable and the difference was not statistically significant. These findings suggest that dogs with degenerative lumbosacral stenosis have decreased lumbar paraspinal muscle mass that may be a cause or consequence of the -syndrome. Understanding altered paraspinal muscle characteristics may improve understanding of the -pathophysiology and management options for degenerative lumbosacral stenosis. © 2015 British Small Animal Veterinary Association.

  2. Degenerative effects in rat eyes after experimental ocular hypertension

    Directory of Open Access Journals (Sweden)

    G. Scarsella

    2012-10-01

    Full Text Available This study was used to evaluate the degenerative effects on the retina and eye-cup sections after experimental induction of acute ocular hypertension on animal models. In particular, vascular events were directly focused in this research in order to assess the vascular remodeling after transient ocular hypertension on rat models. After local anaesthesia by administration of eye drops of 0.4% oxibuprocaine, 16 male adult Wistar rats were injected in the anterior chamber of the right eye with 15 µL of methylcellulose (MTC 2% in physiological solution. The morphology and the vessels of the retina and eye-cup sections were examined in animals sacrificed 72 h after induction of ocular hypertension. In retinal fluorescein angiographies (FAGs, by means of fluorescein isothiocyanate-coniugated dextran (FITC, the radial venules showed enlargements and increased branching, while the arterioles appeared focally thickened. The length and size of actually perfused vessels appeared increased in the whole superficial plexus. In eye-cup sections of MTC-injected animals, in deep plexus and connecting layer there was a bigger increase of vessels than in controls. Moreover, the immunolocalization of astrocytic marker glial fibrillary acidic protein (GFAP revealed its increased expression in internal limiting membrane and ganglion cell layer, as well as its presence in Müller cells. Finally, the pro-angiogenic factor vascular endothelial growth factor (VEGF was found to be especially expressed by neurones of ganglion cell layer, both in control and in MTC-injected eyes. The data obtained in this experimental model on the interactions among glia, vessels and neurons should be useful to evaluate if also in glaucomatous patients the activation of vessel-adjacent glial cells might play key roles in following neuronal dysfunction.

  3. Degenerative effects in rat eyes after experimental ocular hypertension.

    Science.gov (United States)

    Scarsella, G; Nebbioso, M; Stefanini, S; Pescosolido, N

    2012-10-08

    This study was used to evaluate the degenerative effects on the retina and eye-cup sections after experimental induction of acute ocular hypertension on animal models. In particular, vascular events were directly focused in this research in order to assess the vascular remodeling after transient ocular hypertension on rat models. After local anaesthesia by administration of eye drops of 0.4% oxibuprocaine, 16 male adult Wistar rats were injected in the anterior chamber of the right eye with 15 µL of methylcellulose (MTC) 2% in physiological solution. The morphology and the vessels of the retina and eye-cup sections were examined in animals sacrificed 72 h after induction of ocular hypertension. In retinal fluorescein angiographies (FAGs), by means of fluorescein isothiocyanate-coniugated dextran (FITC), the radial venules showed enlargements and increased branching, while the arterioles appeared focally thickened. The length and size of actually perfused vessels appeared increased in the whole superficial plexus. In eye-cup sections of MTC-injected animals, in deep plexus and connecting layer there was a bigger increase of vessels than in controls. Moreover, the immunolocalization of astrocytic marker glial fibrillary acidic protein (GFAP) revealed its increased expression in internal limiting membrane and ganglion cell layer, as well as its presence in Müller cells. Finally, the pro-angiogenic factor vascular endothelial growth factor (VEGF) was found to be especially expressed by neurones of ganglion cell layer, both in control and in MTC-injected eyes. The data obtained in this experimental model on the interactions among glia, vessels and neurons should be useful to evaluate if also in glaucomatous patients the activation of vessel-adjacent glial cells might play key roles in following neuronal dysfunction.

  4. Lipid Profile and Inflammation in Degenerative Valvular Disease

    Directory of Open Access Journals (Sweden)

    Mehmet Yamak

    2015-03-01

    Full Text Available Aim: Degenerative valvular heart disease (DVHD may cause serious cardiac problems and mortality. Determination of the factors related to DVHD may render possible the prevention and/or slowing down the progression of DVHD. In this study, we evaluated the relationship of DVHD with lipid profile, microalbuminuria and high sensitive C-reactive protein (hsCRP levels. Methods: 50 patients (age=65.6±12.4 years with DVHD were compared with the control group including 20 patients (age=57.3±13.9 years with left ventricle hypertrophy, but no DVHD. Microalbuminuria, blood lipid parameters and hsCRP levels were measured besides routine biochemical tests. Clinical, laboratory and echocardiographic findings were compared between the groups. Results: Total cholesterol, HDL-cholesterol and LDL-cholesterol levels were significantly higher in DVHD group (215.26±48.59 mg/dL vs. 177.45±22.47 mg/dL, p=0.001; 45.04±11.03 mg/dL vs. 38.90±11.82 mg/dL, p=0.043 and 138.49±40.69 mg/dL vs. 114.26±16.07 mg/dL, p=0.001 compared with control group. hsCRP and microalbuminuria levels were relatively higher in DVHD group. Conclusion: Hyperlipidaemia is related to DHVD development, and the progress of DHVD may be related to the inflammatory process. Elevated hsCRP levels may be an indicator of pathologies active in DVHD development. Routine echocardiographic analysis in hypertensive patients with high hsCRP and LDL-cholesterol levels might be useful for screening of DVHD. (The Medical Bulletin of Haseki 2015; 53: 62-6

  5. Degenerative pontine lesions in patients with familial narcolepsy.

    Science.gov (United States)

    Stepień, Adam; Staszewski, Jacek; Domzał, Teofan M; Tomczykiewicz, Kazimierz; Skrobowska, Ewa; Durka-Kesy, Marta

    2010-01-01

    Narcolepsy is characterized by chronic excessive daytime sleepiness with episodic sleep attacks. There are several associated symptoms of narcolepsy: cataplexy (bilateral muscle weakness without loss of consciousness provoked by an emotional trigger, e.g. laughter), sleep paralysis and hypnagogic-hypnopompic hallucinations. Most cases are sporadic; familial narcolepsy contributes to only 1-5% of all cases. While most cases of narcolepsy are idiopathic and are not associated with clinical or radiographic evidence of brain pathology, symptomatic or secondary narcolepsy may occur occasionally in association with lesions caused by tumours, demyelination or strokes of the diencephalon, midbrain, and pons. There are some examples of non-specific brainstem lesions found in magnetic resonance imaging (MRI) in patients with idiopathic narcolepsy. The authors present eleven patients from a five-generation family with many members who suffer from episodic excessive daytime sleepiness. Narcolepsy was diagnosed in 9 patients. Sleepiness was frequently associated with cataplexy, hypnagogic-hypnopompic hallucinations and sleep paralysis. Improvement in their clinical state was observed during the treatment with modafinil. All probands had MRI of the brain, routine blood tests, EEG, polysomnography, examination of the level of hypocretin in cerebrospinal fluid and evaluation by means of Epworth and Stanford Sleepiness Scales. In 9 patients with narcolepsy, decreased thickness of the substantia nigra was found and in six of them degenerative lesions in the pontine substantia nigra were also noticed. The significance of these changes remains unclear. No data have been published until now concerning the presence of any brain lesions in patients with familial narcolepsy.

  6. Regenerative therapies for equine degenerative joint disease: a preliminary study.

    Directory of Open Access Journals (Sweden)

    Sarah Broeckx

    Full Text Available Degenerative joint disease (DJD is a major cause of reduced athletic function and retirement in equine performers. For this reason, regenerative therapies for DJD have gained increasing interest. Platelet-rich plasma (PRP and mesenchymal stem cells (MSCs were isolated from a 6-year-old donor horse. MSCs were either used in their native state or after chondrogenic induction. In an initial study, 20 horses with naturally occurring DJD in the fetlock joint were divided in 4 groups and injected with the following: 1 PRP; 2 MSCs; 3 MSCs and PRP; or 4 chondrogenic induced MSCs and PRP. The horses were then evaluated by means of a clinical scoring system after 6 weeks (T1, 12 weeks (T2, 6 months (T3 and 12 months (T4 post injection. In a second study, 30 horses with the same medical background were randomly assigned to one of the two combination therapies and evaluated at T1. The protein expression profile of native MSCs was found to be negative for major histocompatibility (MHC II and p63, low in MHC I and positive for Ki67, collagen type II (Col II and Vimentin. Chondrogenic induction resulted in increased mRNA expression of aggrecan, Col II and cartilage oligomeric matrix protein (COMP as well as in increased protein expression of p63 and glycosaminoglycan, but in decreased protein expression of Ki67. The combined use of PRP and MSCs significantly improved the functionality and sustainability of damaged joints from 6 weeks until 12 months after treatment, compared to PRP treatment alone. The highest short-term clinical evolution scores were obtained with chondrogenic induced MSCs and PRP. This study reports successful in vitro chondrogenic induction of equine MSCs. In vivo application of (induced MSCs together with PRP in horses suffering from DJD in the fetlock joint resulted in a significant clinical improvement until 12 months after treatment.

  7. Serotonin receptor 2B signaling with interstitial cell activation and leaflet remodeling in degenerative mitral regurgitation.

    Science.gov (United States)

    Driesbaugh, Kathryn H; Branchetti, Emanuela; Grau, Juan B; Keeney, Samuel J; Glass, Kimberly; Oyama, Mark A; Rioux, Nancy; Ayoub, Salma; Sacks, Michael S; Quackenbush, John; Levy, Robert J; Ferrari, Giovanni

    2018-02-01

    Mitral valve interstitial cells (MVIC) play an important role in the pathogenesis of degenerative mitral regurgitation (MR) due to mitral valve prolapse (MVP). Numerous clinical studies have observed serotonin (5HT) dysregulation in cardiac valvulopathies; however, the impact of 5HT-mediated signaling on MVIC activation and leaflet remodeling in MVP have been investigated to a limited extent. Here we test the hypothesis that 5HT receptors (5HTRs) signaling contributes to MVP pathophysiology. Diseased human MV leaflets were obtained during cardiac surgery for MVP; normal MV leaflets were obtained from heart transplants. MV RNA was used for microarray analysis of MVP patients versus control, highlighting genes that indicate the involvement of 5HTR pathways and extracellular matrix remodeling in MVP. Human MV leaflets were also studied in vitro and ex vivo with biomechanical testing to assess remodeling in the presence of a 5HTR2B antagonist (LY272015). MVP leaflets from Cavalier King Charles Spaniels were used as a naturally acquired in vivo model of MVP. These canine MVP leaflets (N=5/group) showed 5HTR2B upregulation. This study also utilized CB57.1ML/6 mice in order to determine the effect of Angiotensin II infusion on MV remodeling. Histological analysis showed that MV thickening due to chronic Angiotensin II remodeling is mitigated by a 5HTR2B antagonist (LY272015) but not by 5HTR2A inhibitors. In humans, MVP is associated with an upregulation in 5HTR2B expression and increased 5HT receptor signaling in the leaflets. Antagonism of 5HTR2B mitigates MVIC activation in vitro and MV remodeling in vivo. These observations support the view that 5HTR signaling is involved not only in previously reported 5HT-related valvulopathies, but it is also involved in the pathological remodeling of MVP. Copyright © 2018 Elsevier Ltd. All rights reserved.

  8. Environmental toxicants, incidence of degenerative diseases, and therapies from the epigenetic point of view.

    Science.gov (United States)

    Hodjat, Mahshid; Rahmani, Soheila; Khan, Fazlullah; Niaz, Kamal; Navaei-Nigjeh, Mona; Mohammadi Nejad, Solmaz; Abdollahi, Mohammad

    2017-07-01

    Epigenotoxicology is an emerging field of study that investigates the non-genotoxic epigenetic effects of environmental toxicants resulting in alteration of normal gene expression and disruption of cell function. Recent findings on the role of toxicant-induced epigenetic modifications in the development of degenerative diseases have opened up a promising research direction to explore epigenetic therapy approaches and related prognostic biomarkers. In this review, we presented comprehensive data on epigenetic alterations identified in various diseases, including cancer, autoimmune disorders, pulmonary conditions as well as cardiovascular, gastrointestinal and bone disease. Although data on abnormalities of DNA methylation and their role in the development of diseases are abundant, less is known about the impact of histone modifications and microRNA expressions. Further, we discussed the effects of selected common environmental toxicants on epigenetic modifications and their association with particular abnormalities. A number of different environmental toxicants have been identified for their role in aberrant DNA methylation, histone modifications, and microRNA expression. Such epigenetic effects were shown to be tissue-type specific and highly associated with the level and duration of exposure. Finally, we described present and future therapeutic strategies, including medicines and dietary compounds for combating the toxicant-induced epigenetic alterations. There are currently seven histone deacetylase inhibitors and two DNA methyltransferase inhibitors approved for clinical use and many other promising candidates are in preclinical and clinical testing. Dietary compounds are thought to be the effective and safe strategies for treating and prevention of epigenetic pathophysiological conditions. Still more concentrated epigenetic researches are required for evaluation of chemical toxicity and identifying the causal association between key epigenetic alteration and

  9. Human olfactory bulb neural stem cells mitigate movement disorders in a rat model of Parkinson's disease.

    Science.gov (United States)

    Marei, Hany E S; Lashen, Samah; Farag, Amany; Althani, Asmaa; Afifi, Nahla; A, Abd-Elmaksoud; Rezk, Shaymaa; Pallini, Roberto; Casalbore, Patrizia; Cenciarelli, Carlo

    2015-07-01

    Parkinson's disease (PD) is a neurological disorder characterized by the loss of midbrain dopaminergic (DA) neurons. Neural stem cells (NSCs) are multipotent stem cells that are capable of differentiating into different neuronal and glial elements. The production of DA neurons from NSCs could potentially alleviate behavioral deficits in Parkinsonian patients; timely intervention with NSCs might provide a therapeutic strategy for PD. We have isolated and generated highly enriched cultures of neural stem/progenitor cells from the human olfactory bulb (OB). If NSCs can be obtained from OB, it would alleviate ethical concerns associated with the use of embryonic tissue, and provide an easily accessible cell source that would preclude the need for invasive brain surgery. Following isolation and culture, olfactory bulb neural stem cells (OBNSCs) were genetically engineered to express hNGF and GFP. The hNFG-GFP-OBNSCs were transplanted into the striatum of 6-hydroxydopamin (6-OHDA) Parkinsonian rats. The grafted cells survived in the lesion environment for more than eight weeks after implantation with no tumor formation. The grafted cells differentiated in vivo into oligodendrocyte-like (25 ± 2.88%), neuron-like (52.63 ± 4.16%), and astrocyte -like (22.36 ± 1.56%) lineages, which we differentiated based on morphological and immunohistochemical criteria. Transplanted rats exhibited a significant partial correction in stepping and placing in non-pharmacological behavioral tests, pole and rotarod tests. Taken together, our data encourage further investigations of the possible use of OBNSCs as a promising cell-based therapeutic strategy for Parkinson's disease. © 2014 Wiley Periodicals, Inc.

  10. Motor-auditory-visual integration: The role of the human mirror neuron system in communication and communication disorders.

    Science.gov (United States)

    Le Bel, Ronald M; Pineda, Jaime A; Sharma, Anu

    2009-01-01

    The mirror neuron system (MNS) is a trimodal system composed of neuronal populations that respond to motor, visual, and auditory stimulation, such as when an action is performed, observed, heard or read about. In humans, the MNS has been identified using neuroimaging techniques (such as fMRI and mu suppression in the EEG). It reflects an integration of motor-auditory-visual information processing related to aspects of language learning including action understanding and recognition. Such integration may also form the basis for language-related constructs such as theory of mind. In this article, we review the MNS system as it relates to the cognitive development of language in typically developing children and in children at-risk for communication disorders, such as children with autism spectrum disorder (ASD) or hearing impairment. Studying MNS development in these children may help illuminate an important role of the MNS in children with communication disorders. Studies with deaf children are especially important because they offer potential insights into how the MNS is reorganized when one modality, such as audition, is deprived during early cognitive development, and this may have long-term consequences on language maturation and theory of mind abilities. Readers will be able to (1) understand the concept of mirror neurons, (2) identify cortical areas associated with the MNS in animal and human studies, (3) discuss the use of mu suppression in the EEG for measuring the MNS in humans, and (4) discuss MNS dysfunction in children with (ASD).

  11. Mid-range outcomes in 64 consecutive cases of multilevel fusion for degenerative diseases of the lumbar spine

    Directory of Open Access Journals (Sweden)

    Marc Röllinghoff

    2010-01-01

    Full Text Available In the treatment of multilevel degenerative disorders of the lumbar spine, spondylodesis plays a controversial role. Most patients can be treated conservatively with success. Multilevel lumbar fusion with instrumentation is associated with severe complications like failed back surgery syndrome, implant failure, and adjacent segment disease (ASD. This retrospective study examines the records of 70 elderly patients with degenerative changes or instability of the lumbar spine treated between 2002 and 2007 with spondylodesis of more than two segments. Sixty-four patients were included; 5 patients had died and one patient was lost to follow-up. We evaluated complications, clinical/radiological outcomes, and success of fusion. Flexion-extension and standing X-rays in two planes, MRI, and/or CT scans were obtained pre-operatively. Patients were assessed clinically using the Oswestry disability index (ODI and a Visual Analogue Scale (VAS. Surgery performed was dorsolateral fusion (46.9% or dorsal fusion with anterior lumbar interbody fusion (ALIF; 53.1%. Additional decompression was carried out in 37.5% of patients. Mean follow-up was 29.4±5.4 months. Average patient age was 64.7±4.3 years. Clinical outcomes were not satisfactory for all patients. VAS scores improved from 8.6±1.3 to 5.6±3.0 pre- to post-operatively, without statistical significance. ODI was also not significantly improved (56.1±22.3 pre- and 45.1±26.4 post-operatively. Successful fusion, defined as adequate bone mass with trabeculation at the facets and transverse processes or in the intervertebral segments, did not correlate with good clinical outcomes. Thirty-five of 64 patients (54% showed signs of pedicle screw loosening, especially of the screws at S1. However, only 7 of these 35 (20% complained of corresponding back pain. Revision surgery was required in 24 of 64 patients (38%. Of these, indications were adjacent segment disease (16 cases, pedicle screw loosening (7 cases

  12. Anatomy and Cell Biology of Autism Spectrum Disorder : Lessons from Human Genetics

    NARCIS (Netherlands)

    Kleijer, Kristel T E; Huguet, Guillaume; Tastet, Julie; Bourgeron, Thomas; Burbach, J P H

    2017-01-01

    Until recently autism spectrum disorder (ASD) was regarded as a neurodevelopmental condition with unknown causes and pathogenesis. In the footsteps of the revolution of genome technologies and genetics, and with its high degree of heritability, ASD became the first neuropsychiatric disorder for

  13. Role of the endocannabinoid system in human brain functions relevant for psychiatric disorders

    NARCIS (Netherlands)

    Bossong, M.G.

    2012-01-01

    Impaired cognitive function is a fundamental characteristic of many psychiatric and neurological disorders such as schizophrenia or Alzheimer’s disease. The endocannabinoid (eCB) system, consisting of cannabinoid receptors and accompanying ligands, has been implicated in these disorders. In

  14. Structural basis for triplet repeat disorders

    DEFF Research Database (Denmark)

    Baldi, Pierre; Brunak, Søren; Chauvin, Yves

    1999-01-01

    Motivation: Over a dozen major degenerative disorders, including myotonic distrophy, Huntington's disease and fragile X syndrome result from unstable expansions of particular trinucleotides. Remarkably, only some of all the possible triplets, namely CAG/CTG, CGG/CCG and GAA/TTC, have been associa...

  15. Functional imaging of neurotransmitter systems in movement disorders

    International Nuclear Information System (INIS)

    Ilgin, N.

    1998-01-01

    PET and SPECT enable the direct measurement of components of the dopaminergic and other systems in the living human brain and offer unique opportunity for the in vivo quantification on the dopaminergic function in PD and other movement disorders. The need to establish the early and differential diagnosis of PD is increasingly important given the recent evidence that early pharmacologic intervention may slow progression of this progressive degenerative disease. Accordingly, imaging with PET and SPECT using specific neuro markers has been increasingly important to biochemically identify the loss of specific neurotransmitters, their synthesizing enzymes and their receptors in movement disorders. Through the parallel development of new radiotracers, kinetic models and better instruments, PET and SPECT technology is enabling investigation of increasingly more complex aspects of the human brain neurotransmitter systems. This paper summarizes the results of different PET-SPECT studies used to evaluate the various elements of the dopamine system in the human brain with PET and intends to introduce the newly emerging specific tracers and their applications to clinical research in movement disorders

  16. Functional imaging of neurotransmitter systems in movement disorders

    Energy Technology Data Exchange (ETDEWEB)

    Ilgin, N. [Ankara, Gazi Univ. Medical School (Turkey). Dept. of Nuclear Medicine

    1998-09-01

    PET and SPECT enable the direct measurement of components of the dopaminergic and other systems in the living human brain and offer unique opportunity for the in vivo quantification on the dopaminergic function in PD and other movement disorders. The need to establish the early and differential diagnosis of PD is increasingly important given the recent evidence that early pharmacologic intervention may slow progression of this progressive degenerative disease. Accordingly, imaging with PET and SPECT using specific neuro markers has been increasingly important to biochemically identify the loss of specific neurotransmitters, their synthesizing enzymes and their receptors in movement disorders. Through the parallel development of new radiotracers, kinetic models and better instruments, PET and SPECT technology is enabling investigation of increasingly more complex aspects of the human brain neurotransmitter systems. This paper summarizes the results of different PET-SPECT studies used to evaluate the various elements of the dopamine system in the human brain with PET and intends to introduce the newly emerging specific tracers and their applications to clinical research in movement disorders.

  17. TRANSFORAMINAL L U MBAR INTERBODY FUSION IN LOW GRADE COMBINED LYTIC AND DEGENERATIVE SPONDYLOLIDTHESIS : FUNCTIONAL OUTCOME OF 21 CASES

    Directory of Open Access Journals (Sweden)

    Suresh

    2015-10-01

    Full Text Available BACKGROUND: Spondylolisthesis is a heterogenous disorder characterised by subluxation of a vertebral body in sagittal plane occuring frequently at l4 - 5 and l5 - S1commonest being isthmic and degenerative variety. While majority are asymptomatic, a subset do produce pain with neurology. Complete decompression of roots is essential, as is the need for solid stabi lization. Several fusion techniques were reported in literature like PLF, TLIF, PLF, ALIF On theoretical grounds, TLIF has been suggested to be safe and result in an improved outcome compared to other techniques. Data to support this view, are lacking. M ETHODS: A total of 21 patients (age range, 27 - 62 years with adult isthmic and degenerative spondylolisthesis were operated. There were 8 males and 13 females with mean age of 46.8 pre - op and 2 - year follow - up, pain (VAS and functional disability were quan tified by Oswestry Disability Index (ODI.Radiological union assessed with xrays by Brantigen and Steffee criteria. The global outcome was excellent in 90%.and 92% fusion. 2 patients presented motor deficit which did not recover. RESULTS: The follow - up was for 2 years. The mean VAS score for low back pain improved from 7.0 preoperatively to 2.1, as did the mean VAS score for leg pain from 6.7 to 1.4 and the mean ODI from 59.5% to 11.3%. CONCLUSION: TLIF does affect the 2 - year outcome of surgical treatment of spondylolisthesis with decreased back pain and ODI’s, with advantages of minimal thecal retraction, restored segmental lordosis and preserved posterior tension band.

  18. Correlation between facet tropism and lumbar degenerative disease: a retrospective analysis.

    Science.gov (United States)

    Gao, Tian; Lai, Qi; Zhou, Song; Liu, Xuqiang; Liu, Yuan; Zhan, Ping; Yu, Xiaolong; Xiao, Jun; Dai, Min; Zhang, Bin

    2017-11-22

    The aim of this study was to investigate the correlation between facet tropism and spinal degenerative diseases, such as degenerative lumbar spondylolisthesis, degenerative lumbar scoliosis, and lumbar disc herniation. This study retrospectively analysed clinical data from the Department of Orthopaedics at The First Affiliated Hospital of Nanchang University. Ninety-two patients were diagnosed with lumbar spondylolisthesis, 64 patients with degenerative scoliosis, and 86 patients with lumbar disc herniation between 1 October 2014 and 1 October 2016. All patients were diagnosed using 3.0 T magnetic resonance imaging and underwent conservative or operative treatment. Facet tropism was defined as greater than a ten degree between the facet joint angles on both sides. For L3-L4 degenerative lumbar spondylolisthesis, one out of six cases had tropism compared to seven out of the 86 controls (p = 0.474). At the L4-L5 level, 17/50 cases had tropism compared to 4/42 cases in the control group (p = 0.013). At the L5-S1 level, 18/36 cases had tropism compared to 7/56 controls (p = 0.000). For degenerative lumbar scoliosis at the L1-L5 level, 83/256 cases had tropism as compared to 36/256 controls (p = 0.000). For L3-L4 lumbar disc herniation two out of eight cases had tropism compared to 14/78 controls (p = 0.625). At the L4-L5 level, 19/44 cases had tropism compared to four out of 42 controls (p = 0.001). At the L5-S1 level, 24/34 cases had tropism compared to 10/52 controls (p = 0.000). At the L4-5 and L5-S1 levels, facet tropism is associated with degenerative spondylolisthesis. In the degenerative lumbar scoliosis group, the number of case with facet tropism was significantly higher than that of the control group. Facet tropism was associated with lumbar disc herniation at the L4-5 and L5-S1 levels. Overall, in these three lumbar degenerative diseases, facet tropism is a common phenomenon.

  19. Durability of mitral valve repair for mitral regurgitation due to degenerative mitral valve disease.

    Science.gov (United States)

    David, Tirone E

    2015-09-01

    Degenerative diseases of the mitral valve (MV) are the most common cause of mitral regurgitation in the Western world and the most suitable pathology for MV repair. Several studies have shown excellent long-term durability of MV repair for degenerative diseases. The best follow-up results are obtained with isolated prolapse of the posterior leaflet, however even with isolated prolapse of the anterior leaflet or prolapse of both leaflets the results are gratifying, particularly in young patients. The freedom from reoperation on the MV at 15 years exceeds 90% for isolated prolapse of the posterior leaflet and it is around 70-85% for prolapse of the anterior leaflet or both leaflets. The degree of degenerative change in the MV also plays a role in durability of MV repair. Most studies have used freedom from reoperation to assess durability of the repair but some studies that examined valve function late after surgery suggest that recurrent mitral regurgitation is higher than estimated by freedom from reoperation. We can conclude that MV repair for degenerative mitral regurgitation is associated with low probability of reoperation for up to two decades after surgery. However, almost one-third of the patients develop recurrent moderate or severe mitral regurgitation suggesting that surgery does not arrest the degenerative process.

  20. Pedicle screw-rod fixation: a feasible treatment for dogs with severe degenerative lumbosacral stenosis.

    Science.gov (United States)

    Tellegen, Anna R; Willems, Nicole; Tryfonidou, Marianna A; Meij, Björn P

    2015-12-07

    Degenerative lumbosacral stenosis is a common problem in large breed dogs. For severe degenerative lumbosacral stenosis, conservative treatment is often not effective and surgical intervention remains as the last treatment option. The objective of this retrospective study was to assess the middle to long term outcome of treatment of severe degenerative lumbosacral stenosis with pedicle screw-rod fixation with or without evidence of radiological discospondylitis. Twelve client-owned dogs with severe degenerative lumbosacral stenosis underwent pedicle screw-rod fixation of the lumbosacral junction. During long term follow-up, dogs were monitored by clinical evaluation, diagnostic imaging, force plate analysis, and by using questionnaires to owners. Clinical evaluation, force plate data, and responses to questionnaires completed by the owners showed resolution (n = 8) or improvement (n = 4) of clinical signs after pedicle screw-rod fixation in 12 dogs. There were no implant failures, however, no interbody vertebral bone fusion of the lumbosacral junction was observed in the follow-up period. Four dogs developed mild recurrent low back pain that could easily be controlled by pain medication and an altered exercise regime. Pedicle screw-rod fixation offers a surgical treatment option for large breed dogs with severe degenerative lumbosacral stenosis with or without evidence of radiological discospondylitis in which no other treatment is available. Pedicle screw-rod fixation alone does not result in interbody vertebral bone fusion between L7 and S1.

  1. Getting an Insight into the Complexity of Major Chronic Inflammatory and Degenerative Diseases: A Potential New Systemic Approach to Their Treatment.

    Science.gov (United States)

    Biava, Pier M; Norbiato, Guido

    2015-01-01

    As the modern society is troubled by multi-factorial diseases, research has been conducted on complex realities including chronic inflammation, cancer, obesity, HIV infection, metabolic syndrome and its detrimental cardiovascular complications as well as depression and other brain disorders. Deterioration of crucial homeostatic mechanisms in such diseases invariably results in activation of inflammatory mediators, chronic inflammation, loss in immunological function, increased susceptibility to diseases, alteration of metabolism, decrease of energy production and neuro-cognitive decline. Regulation of genes expression by epigenetic code is the dominant mechanism for the transduction of environmental inputs, such as stress and inflammation to lasting physiological changes. Acute and chronic stress determines DNA methylation and histone modifications in brain regions which may contribute to neuro-degenerative disorders. Nuclear glucocorticoids receptor interacts with the epigenoma resulting in a cortisol resistance status associated with a deterioration of the metabolic and immune functions. Gonadal steroids receptors have a similar capacity to produce epigenomic reorganization of chromatine structure. Epigenomic-induced reduction in immune cells telomeres length has been observed in many degenerative diseases, including all types of cancer. The final result of these epigenetic alterations is a serious damage to the neuro-endocrine-immune-metabolic adaptive systems. In this study, we propose a treatment with stem cells differentiation stage factors taken from zebrafish embryos which are able to regulate the genes expression of normal and pathological stem cells in a different specific way.

  2. Age-Dependent Effects of Methylphenidate on the Human Dopaminergic System in Young vs Adult Patients With Attention-Deficit/Hyperactivity Disorder: A Randomized Clincal Trial

    NARCIS (Netherlands)

    Schrantee, A.; Tamminga, H.G.H.; Bouziane, C.; Bottelier, M.A.; Bron, E.E.; Mutsaerts, H.-J.M.M.; Zwinderman, A.H.; Groote, I.R.; Rombouts, S.A.R.B.; Lindauer, R.J.L.; Klein, S.; Niessen, W.J.; Opmeer, B.C.; Boer, F.; Lucassen, P.J.; Andersen, S.L.; Geurts, H.M.; Reneman, L.

    2016-01-01

    Importance: Although numerous children receive methylphenidate hydrochloride for the treatment of attention-deficit/hyperactivity disorder (ADHD), little is known about age-dependent and possibly lasting effects of methylphenidate on the human dopaminergic system. Objectives: To determine whether

  3. Age-dependent effects of methylphenidate on the human dopaminergic system in young vs adult patients with attention-deficit/hyperactivity disorder: A randomized clinical trial

    NARCIS (Netherlands)

    Schrantee, A. (Anouk); Tamminga, H.G.H. (Hyke G. H.); C. Bouziane (Cheima); Bottelier, M.A. (Marco A.); E.E. Bron (Esther); H.J.M.M. Mutsaerts (Henri J. M.); A.H. Zwinderman (Ailko); Groote, I.R. (Inge R.); S.A.R.B. Rombouts (Serge); Lindauer, R.J.L. (Ramon J. L.); S. Klein (Stefan); W.J. Niessen (Wiro); B.C. Opmeer (Brent); Boer, F. (Frits); P.J. Lucassen; Andersen, S.L. (Susan L.); H.M. Geurts (Hilde ); L. Reneman (Liesbeth)

    2016-01-01

    textabstractIMPORTANCE Although numerous children receivemethylphenidate hydrochloride for the treatment of attention-deficit/hyperactivity disorder (ADHD), little is known about age-dependent and possibly lasting effects of methylphenidate on the human dopaminergic system. OBJECTIVES To determine

  4. Age-Dependent Effects of Methylphenidate on the Human Dopaminergic System in Young vs Adult Patients With Attention-Deficit/Hyperactivity Disorder: A Randomized Clinical Trial

    NARCIS (Netherlands)

    Schrantee, Anouk; Tamminga, Hyke G. H.; Bouziane, Cheima; Bottelier, Marco A.; Bron, Esther E.; Mutsaerts, Henk-Jan M. M.; Zwinderman, Aeilko H.; Groote, Inge R.; Rombouts, Serge A. R. B.; Lindauer, Ramon J. L.; Klein, Stefan; Niessen, Wiro J.; Opmeer, Brent C.; Boer, Frits; Lucassen, Paul J.; Andersen, Susan L.; Geurts, Hilde M.; Reneman, Liesbeth

    2016-01-01

    Although numerous children receive methylphenidate hydrochloride for the treatment of attention-deficit/hyperactivity disorder (ADHD), little is known about age-dependent and possibly lasting effects of methylphenidate on the human dopaminergic system. To determine whether the effects of

  5. Associations among Epstein-Barr virus subtypes, human leukocyte antigen class I alleles, and the development of posttransplantation lymphoproliferative disorder in bone marrow transplant recipients

    NARCIS (Netherlands)

    Görzer, Irene; Puchhammer-Stöckl, Elisabeth; van Esser, Joost W J; Niesters, Hubert G M; Cornelissen, Jan J

    2007-01-01

    The association between Epstein-Barr virus subtype, human leukocyte antigen class I alleles, and the development of posttransplantation lymphoproliferative disorder was examined in a group of 25 bone marrow transplant recipients. A highly statistically significant correlation was observed between

  6. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

    NARCIS (Netherlands)

    Sharp, Andrew J.; Hansen, Sierra; Selzer, Rebecca R.; Cheng, Ze; Regan, Regina; Hurst, Jane A.; Stewart, Helen; Price, Sue M.; Blair, Edward; Hennekam, Raoul C.; Fitzpatrick, Carrie A.; Segraves, Rick; Richmond, Todd A.; Guiver, Cheryl; Albertson, Donna G.; Pinkel, Daniel; Eis, Peggy S.; Schwartz, Stuart; Knight, Samantha J. L.; Eichler, Evan E.

    2006-01-01

    Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic

  7. [Review of 1,172 clinical cases with human communication disorders].

    Science.gov (United States)

    de Díaz, M R; de Pustilnik, N F; Tortolero, Y

    1976-01-01

    The study comprised 1,172 clinical cases that were classified according to sex, age and speech disorders. A review is made on the most common alterations that they present, the selective treatment in each type and their rehabilitation.

  8. Monitoring hyperproliferative disorders in human skin: flow cytometry of changing cytokeratin expression.

    NARCIS (Netherlands)

    Franssen, M.E.J.; Boezeman, J.B.M.; Kerkhof, P.C.M. van de; Erp, P.E.J. van

    2004-01-01

    BACKGROUND: Monitoring dynamics of different cell populations in solid tissues using flow cytometry has several limitations. The interaction and changes in epidermal subpopulations in hyperproliferative skin disorders such as psoriasis, a very common chronic inflammatory skin disease, may, however,

  9. Puberty as a Critical Risk Period for Eating Disorders: A Review of Human and Animal Studies

    OpenAIRE

    Klump, Kelly L.

    2013-01-01

    Puberty is one of the most frequently discussed risk periods for the development of eating disorders. Prevailing theories propose environmentally mediated sources of risk arising from the psychosocial effects (e.g., increased body dissatisfaction, decreased self-esteem) of pubertal development in girls. However, recent research highlights the potential role of ovarian hormones in phenotypic and genetic risk for eating disorders during puberty. The goal of this paper is to review data from hum...

  10. Exercise therapy versus arthroscopic partial meniscectomy for degenerative meniscal tear in middle aged patients

    DEFF Research Database (Denmark)

    Kise, Nina Jullum; Risberg, May Arna; Stensrud, Silje

    2016-01-01

    Objective To determine if exercise therapy is superior to arthroscopic partial meniscectomy for knee function in middle aged patients with degenerative meniscal tears. Design Randomised controlled superiority trial. Setting Orthopaedic departments at two public hospitals and two physiotherapy...... clinics in Norway. Participants 140 adults, mean age 49.5 years (range 35.7-59.9), with degenerative medial meniscal tear verified by magnetic resonance imaging. 96% had no definitive radiographic evidence of osteoarthritis. Interventions 12 week supervised exercise therapy alone or arthroscopic partial....... Our results should encourage clinicians and middle aged patients with degenerative meniscal tear and no definitive radiographic evidence of osteoarthritis to consider supervised exercise therapy as a treatment option. Trial registration www.clinicaltrials.gov (NCT01002794)....

  11. Patient reported outcomes in patients undergoing arthroscopic partial meniscectomy for traumatic or degenerative meniscal tears

    DEFF Research Database (Denmark)

    Thorlund, Jonas Bloch; Englund, Martin; Christensen, Robin

    2017-01-01

    OBJECTIVES: To compare patient reported outcomes from before surgery to 52 weeks after surgery between individuals undergoing arthroscopic partial meniscectomy for traumatic meniscal tears and those for degenerative meniscal tears. DESIGN: Comparative prospective cohort study. SETTING: Four public......-55, and undergoing arthroscopic partial meniscectomy for a traumatic or degenerative meniscal tear (defined by a combination of age and symptom onset). INTERVENTIONS: Both participant groups underwent arthroscopic partial meniscectomy for a meniscal tear, with operating surgeons recording relevant information......% women) with a traumatic or degenerative meniscal tear (n=141, mean age 38.7 years (standard deviation 10.9); n=256, 46.6 years (6.4); respectively) were included in the main analysis. At 52 weeks after arthroscopic partial meniscectomy, 55 (14%) patients were lost to follow-up. Statistically...

  12. Exercise therapy versus arthroscopic partial meniscectomy for degenerative meniscal tear in middle aged patients

    DEFF Research Database (Denmark)

    Kise, Nina Jullum; Risberg, May Arna; Stensrud, Silje

    2016-01-01

    OBJECTIVE: To determine if exercise therapy is superior to arthroscopic partial meniscectomy for knee function in middle aged patients with degenerative meniscal tears. DESIGN: Randomised controlled superiority trial. SETTING: Orthopaedic departments at two public hospitals and two physiotherapy...... clinics in Norway. PARTICIPANTS: 140 adults, mean age 49.5 years (range 35.7-59.9), with degenerative medial meniscal tear verified by magnetic resonance imaging. 96% had no definitive radiographic evidence of osteoarthritis. INTERVENTIONS: 12 week supervised exercise therapy alone or arthroscopic partial....... Our results should encourage clinicians and middle aged patients with degenerative meniscal tear and no definitive radiographic evidence of osteoarthritis to consider supervised exercise therapy as a treatment option.Trial registration www.clinicaltrials.gov (NCT01002794)....

  13. [Modern treatments for degenerative disc diseases of the lumbosacral spine. A literature review].

    Science.gov (United States)

    Konovalov, N A; Nazarenko, A G; Asyutin, D S; Zelenkov, P V; Onoprienko, R A; Korolishin, V A; Cherkiev, I U; Martynova, M A; Zakirov, B A; Timonin, S Yu; Kosyr'kova, A V; Pimenova, L F; Pogosyan, A L; Batyrov, A A

    Many researchers consider degenerative diseases of the spine as a pandemic of the XXIst century. Herniated intervertebral discs of the lumbosacral spine occur in 61% of patients with degenerative spine diseases. Of these, 15% of patients have herniated discs at the LII-LIII level, 10% of patients at the LIII-LIV level, and 40% of patients at the LIV-LV and LV-SI levels. A high cost of conservative treatment of degenerative spine disease symptoms and its low efficacy in reducing the intensity and duration of pain necessitate the development of new methods of surgical treatment. In this paper, we analyze the literature data on minimally invasive spine surgery and demonstrate the main advantages of percutaneous endoscopic surgical techniques.

  14. The radiographic distinction of degenerative slippage (spondylolisthesis and retrolisthesis) from traumatic slippage of the cervical spine

    International Nuclear Information System (INIS)

    Lee, C.; Woodring, J.H.; Rogers, L.F.; Kim, K.S.

    1986-01-01

    In a review of 42 cases of degenerative arthritis of the cervical spine and 22 cases of cervical spine trauma with an observed anterior slip-page (spondylolisthesis) or posterior slippage (retrolisthesis) of the vertebral bodies of 2 mm or more, characteristic features were observed which allowed distinction between degenerative and traumatic slippage of the cervical spine. In degenerative slippage the shape of the articular facets and width of the facet joint space may remain normal; however, in most cases the articular facets become 'ground-down' with narrowing of the facet joint space and the articular facets themselves becoming thinned or ribbon-like. In traumatic slippage the articular facets will either be normally shaped or fractured and the facet joint space will be abnormally widened. Plain radiographs will usually allow this distinction to be made; however, in difficult cases polytomography may be required. (orig.)

  15. Intervertebral Fusion with Mobile Microendoscopic Discectomy for Lumbar Degenerative Disc Disease.

    Science.gov (United States)

    Xu, Bao-Shan; Liu, Yue; Xu, Hai-Wei; Yang, Qiang; Ma, Xin-Long; Hu, Yong-Cheng

    2016-05-01

    The aim of this article is to introduce a technique for lumbar intervertebral fusion that incorporates mobile microendoscopic discectomy (MMED) for lumbar degenerative disc disease. Minimally invasive transforaminal lumbar interbody fusion is frequently performed to treat degenerative diseases of the lumbar spine; however, the scope of such surgery and vision is limited by what the naked eye can see through the expanding channel system. To expand the visual scope and reduce trauma, we perform lumbar intervertebral fusion with the aid of a MMED system that provides a wide field through freely tilting the surgical instrument and canals. We believe that this technique is a good option for treating lumbar degenerative disc disease that requires lumbar intervertebral fusion. © 2016 Chinese Orthopaedic Association and John Wiley & Sons Australia, Ltd.

  16. Radiologic manifestations of degenerative-dystrophic lesion of false joints of the limbs

    International Nuclear Information System (INIS)

    Novikov, V.P.

    1980-01-01

    There have been examined 752 patients with false joints and defects of articular ends of the long tubular bones. Various forms of degenerative-dystrophic lesion of the false joints and neoarthrosis which developed after resection of the articular end, as well as of other sections of bones and joints preconditioned by the long-term overload, have been studied in that group. Degenerative-dystrophic damage has been established to be one of the main causes of secondary sub-and decompensation that manifests by cystic transformation, aseptic necrosis and, in extremely rare cases, deforming arthrosis of the former lesion area. Similar alterations in the adjacent and distant overloaded sections of bones and joints are also thought to belong to causative factors. The importance of the timely multiple X-ray examination has been shown, particularly in detecting early manifestations of degenerative-dystrophic lesion in clinical and preclinical phases

  17. The immediate effects of taping therapy on knee pain and depression in patients with degenerative arthritis.

    Science.gov (United States)

    Han, Ji-Won; Lee, Dong-Kyu; Park, Chi-Bok

    2018-05-01

    [Purpose] This study aims to identify the immediate effects of taping therapy on knee pain and depression among patients with degenerative arthritis. [Subjects and Methods] In total, 32 patients with degenerative arthritis were randomly assigned to one of two groups: the experimental group that underwent taping therapy and the control group that underwent regular treatment (16 patients per group). In the experimental group, therapeutic tape was wrapped all around the knee joint. Pain and depression were measured using the visual analogue scale (VAS) and the Beck Depression Inventory (BDI), respectively. [Results] The intra-group comparison showed significant differences in VAS and BDI for the experimental group. The intergroup comparison showed that the differences in VAS and BDI within the experimental group appeared significant relative to the control group. [Conclusion] It was observed that taping therapy showed an immediate effect in decreasing knee pain and depression among patients with degenerative arthritis.

  18. LONG-TERM OUTCOMES OF RETINAL DEGENERATIVE DISORDER TREATMENT WITH PEPTIDE BIOREGULATORS

    Directory of Open Access Journals (Sweden)

    M. I. Razumovskiy

    2015-01-01

    Full Text Available Aim. To analyze long-term outcomes and efficacy of retinal degeneration treatment with Retinalamin.Patients and methods. Group I included 20 patients (40 eyes with pigmentary retinal dystrophy (15 patients, 30 eyes and retinal abiotrophy (5 patients, 10 eyes who received treatment with Retinalamin for 5‑7 years. Group II included 11 patients (22 eyes with pigmentary retinal dystrophy (9 patients, 18 eyes and retinal abiotrophy (2 patients, 4 eyes who received treatment with Retinalamin for 23‑25 years. Group III (controls included 15 patients (30 eyes with pigmentary retinal dystrophy (11 patients, 22 eyes and retinal abiotrophy (4 patients, 8 eyes who received traditional treatment (vasodilators, angioprotectors, antisclerotic agents, vitamins for 25 years. Standard ophthalmological examination, i.e., visual acuity measurement, visual field test, refractometry, biomicroscopy, ophthalmoscopy, was performed.Results. First course of treatment with Retinalamin improved vision in 58.1 % of retinal degeneration patients. Visual fields improved in 64.5 % of cases. Repeated treatment courses (1‑2 times a year for 23‑25 years preserved residual vision in 55.6 % of patients and object vision in 11.1 % of cases. In retinal abiotrophy patients, residual vision preserved in 100 % of cases.Conclusions. In retinal degenerations, Retinalamin improves vision and visual fields and decreases total area of absolute scotomas even after the first treatment course as well as preserves vision in prolonged use. 

  19. Lumbar degenerative spinal deformity: Surgical options of PLIF, TLIF and MI-TLIF

    Directory of Open Access Journals (Sweden)

    Hey Hwee Weng

    2010-01-01

    Full Text Available Degenerative disease of the lumbar spine is common in ageing populations. It causes disturbing back pain, radicular symptoms and lowers the quality of life. We will focus our discussion on the surgical options of posterior lumbar interbody fusion (PLIF and transforaminal lumbar interbody fusion (TLIF and minimally invasive transforaminal lumbar interbody fusion (MI-TLIF for lumbar degenerative spinal deformities, which include symptomatic spondylolisthesis and degenerative scoliosis. Through a description of each procedure, we hope to illustrate the potential benefits of TLIF over PLIF. In a retrospective study of 53 ALIF/PLIF patients and 111 TLIF patients we found reduced risk of vessel and nerve injury in TLIF patients due to less exposure of these structures, shortened operative time and reduced intra-operative bleeding. These advantages could be translated to shortened hospital stay, faster recovery period and earlier return to work. The disadvantages of TLIF such as incomplete intervertebral disc and vertebral end-plate removal and potential occult injury to exiting nerve root when under experienced hands are rare. Hence TLIF remains the mainstay of treatment in degenerative deformities of the lumbar spine. However, TLIF being a unilateral transforaminal approach, is unable to decompress the opposite nerve root. This may require contralateral laminotomy, which is a fairly simple procedure.The use of minimally invasive transforaminal lumbar interbody fusion (MI-TLIF to treat degenerative lumbar spinal deformity is still in its early stages. Although the initial results appear promising, it remains a difficult operative procedure to master with a steep learning curve. In a recent study comparing 29 MI-TLIF patients and 29 open TLIF, MI-TLIF was associated with longer operative time, less blood loss, shorter hospital stay, with no difference in SF-36 scores at six months and two years. Whether it can replace traditional TLIF as the surgery of

  20. Pituitary adenylate cyclase activating polypeptide in stress-related disorders: data convergence from animal and human studies.

    Science.gov (United States)

    Hammack, Sayamwong E; May, Victor

    2015-08-01

    The maladaptive expression and function of several stress-associated hormones have been implicated in pathological stress and anxiety-related disorders. Among these, recent evidence has suggested that pituitary adenylate cyclase activating polypeptide (PACAP) has critical roles in central neurocircuits mediating stress-related emotional behaviors. We describe the PACAPergic systems, the data implicating PACAP in stress biology, and how altered PACAP expression and signaling may result in psychopathologies. We include our work implicating PACAP signaling within the bed nucleus of the stria terminalis in mediating the consequences of stressor exposure and relatedly, describe more recent studies suggesting that PACAP in the central nucleus of the amygdala may impact the emotional aspects of chronic pain states. In aggregate, these results are consistent with data suggesting that PACAP dysregulation is associated with posttraumatic stress disorder in humans. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  1. Mesenchymal Stem Cell Secretome: A Potential Tool for the Prevention of Muscle Degenerative Changes Associated With Chronic Rotator Cuff Tears.

    Science.gov (United States)

    Sevivas, Nuno; Teixeira, Fábio Gabriel; Portugal, Raquel; Araújo, Luís; Carriço, Luís Filipe; Ferreira, Nuno; Vieira da Silva, Manuel; Espregueira-Mendes, João; Anjo, Sandra; Manadas, Bruno; Sousa, Nuno; Salgado, António J

    2016-08-08

    Massive rotator cuff tears (MRCTs) are usually chronic lesions with pronounced degenerative changes, where advanced fatty degeneration and atrophy can make the tear irreparable. Human mesenchymal stem cells (hMSCs) secrete a range of growth factors and vesicular systems, known as secretome, that mediates regenerative processes in tissues undergoing degeneration. To study the effect of hMSC secretome on muscular degenerative changes and shoulder function on a rat MRCT model. Controlled laboratory study. A bilateral 2-tendon (supraspinatus and infraspinatus) section was performed to create an MRCT in a rat model. Forty-four Wistar-Han rats were randomly assigned to 6 groups: control group (sham surgery), lesion control group (MRCT), and 4 treated-lesion groups according to the site and periodicity of hMSC secretome injection: single local injection, multiple local injections, single systemic injection, and multiple systemic injections. Forelimb function was analyzed with the staircase test. Atrophy and fatty degeneration of the muscle were evaluated at 8 and 16 weeks after injury. A proteomic analysis was conducted to identify the molecules present in the hMSC secretome that can be associated with muscular degeneration prevention. When untreated for 8 weeks, the MRCT rats exhibited a significantly higher fat content (0.73% ± 0.19%) compared with rats treated with a single local injection (0.21% ± 0.04%; P muscle atrophy, 8 weeks after injury, only the single local injection group (0.0993% ± 0.0036%) presented a significantly higher muscle mass than that of the untreated MRCT group (0.0794% ± 0.0047%; P muscle regeneration, namely, pigment epithelium-derived factor and follistatin. The study data suggest that hMSC secretome effectively decreases the fatty degeneration and atrophy of the rotator cuff muscles. We describe a new approach for decreasing the characteristic muscle degeneration associated with chronic rotator cuff tears. This strategy is particularly

  2. Degenerative Pannus Mimicking Clival Chordoma Resected via an Endoscopic Transnasal Approach.

    Science.gov (United States)

    Khaldi, Ahmad; Griauzde, Julius; Duckworth, Edward A M

    2011-05-01

    Lesions of the lower clivus represent a technically challenging subset of skull base disease that requires careful treatment. A 75-year-old woman with tongue atrophy was referred for resection of a presumed clival chordoma. The lesion was resected via an endoscopic transnasal transclival approach with no complications. Pathology revealed only chronic inflammatory tissue consistent with a degenerative pannus. Degenerative pannus should be included in the differential diagnosis of lower clival extradural lesions. The endoscopic transnasal transclival corridor should be considered for resection of such lesions as an alternative to larger, more morbid, traditional skull base approaches.

  3. Development of Therapeutics That Induce Mitochondrial Biogenesis for the Treatment of Acute and Chronic Degenerative Diseases.

    Science.gov (United States)

    Cameron, Robert B; Beeson, Craig C; Schnellmann, Rick G

    2016-12-08

    Mitochondria have various roles in cellular metabolism and homeostasis. Because mitochondrial dysfunction is associated with many acute and chronic degenerative diseases, mitochondrial biogenesis (MB) is a therapeutic target for treating such diseases. Here, we review the role of mitochondrial dysfunction in acute and chronic degenerative diseases and the cellular signaling pathways by which MB is induced. We then review existing work describing the development and application of drugs that induce MB in vitro and in vivo. In particular, we discuss natural products and modulators of transcription factors, kinases, cyclic nucleotides, and G protein-coupled receptors.

  4. The Clinical Correlations between Diabetes, Cigarette Smoking and Obesity on Intervertebral Degenerative Disc Disease of the Lumbar Spine.

    Science.gov (United States)

    Jakoi, Ande M; Pannu, Gurpal; D'Oro, Anthony; Buser, Zorica; Pham, Martin H; Patel, Neil N; Hsieh, Patrick C; Liu, John C; Acosta, Frank L; Hah, Raymond; Wang, Jeffrey C

    2017-06-01

    Retrospective analysis of a nationwide private insurance database. Chi-square analysis and linear regression models were utilized for outcome measures. The purpose of this study was to investigate any relationship between lumbar degenerative disc disease, diabetes, obesity and smoking tobacco. Diabetes, obesity, and smoking tobacco are comorbid conditions known to individually have effect on degenerative disc disease. Most studies have only been on a small populous scale. No study has yet to investigate the combination of these conditions within a large patient cohort nor have they reviewed the combination of these conditions on degenerative disc disease. A retrospective analysis of insurance billing codes within the nationwide Humana insurance database was performed, using PearlDiver software (PearlDiver, Inc., Fort Wayne, IN, USA), to identify trends among patients diagnosed with lumbar disc degenerative disease with and without the associated comorbidities of obesity, diabetes, and/or smoking tobacco. Patients billed for a comorbidity diagnosis on the same patient record as the lumbar disc degenerative disease diagnosis were compared over time to patients billed for lumbar disc degenerative disease without a comorbidity. There were no sources of funding for this manuscript and no conflicts of interest. The total number and prevalence of patients (per 10,000) within the database diagnosed with lumbar disc degenerative disease increased by 241.4% and 130.3%, respectively. The subsets of patients within this population who were concurrently diagnosed with either obesity, diabetes, tobacco use, or a combination thereof, was significantly higher than patients diagnosed with lumbar disc degenerative disease alone ( p degenerative disease and smoking rose significantly more than patients diagnosed with lumbar disc degenerative disease and either diabetes or obesity ( p degenerative disease, smoking and obesity rose significantly more than the number of patients

  5. From an animal model to human patients: An example of a translational study on obsessive compulsive disorder (OCD).

    Science.gov (United States)

    Eilam, David

    2017-05-01

    The application of similar analyses enables a direct projection from translational research in animals to human studies. Following is an example of how the methodology of a specific animal model of obsessive-compulsive disorder (OCD) was applied to study human patients. Specifically, the quinpirole rat model for OCD was based on analyzing the trajectories of travel among different locales, and scoring the set of acts performed at each locale. Applying this analytic approach in human patients unveiled various aspects of OCD, such as the repetition and addition of acts, incompleteness, and the link between behavior and specific locations. It is also illustrated how the same analytical approach could be applicable to studying other mental disorders. Finally, it is suggested that the development of OCD could be explained by the four-phase sequence of Repetition, Addition, Condensation, and Elimination, as outlined in the study of ontogeny and phylogeny and applied to normal development of behavior. In OCD, this sequence is curtailed, resulting in the abundant repetition and addition of acts. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Shining light on the head: Photobiomodulation for brain disorders

    Directory of Open Access Journals (Sweden)

    Michael R. Hamblin

    2016-12-01

    Full Text Available Photobiomodulation (PBM describes the use of red or near-infrared light to stimulate, heal, regenerate, and protect tissue that has either been injured, is degenerating, or else is at risk of dying. One of the organ systems of the human body that is most necessary to life, and whose optimum functioning is most worried about by humankind in general, is the brain. The brain suffers from many different disorders that can be classified into three broad groupings: traumatic events (stroke, traumatic brain injury, and global ischemia, degenerative diseases (dementia, Alzheimer's and Parkinson's, and psychiatric disorders (depression, anxiety, post traumatic stress disorder. There is some evidence that all these seemingly diverse conditions can be beneficially affected by applying light to the head. There is even the possibility that PBM could be used for cognitive enhancement in normal healthy people. In this transcranial PBM (tPBM application, near-infrared (NIR light is often applied to the forehead because of the better penetration (no hair, longer wavelength. Some workers have used lasers, but recently the introduction of inexpensive light emitting diode (LED arrays has allowed the development of light emitting helmets or “brain caps”. This review will cover the mechanisms of action of photobiomodulation to the brain, and summarize some of the key pre-clinical studies and clinical trials that have been undertaken for diverse brain disorders.

  7. A combined analysis of genome-wide expression profiling of bipolar disorder in human prefrontal cortex.

    Science.gov (United States)

    Wang, Jinglu; Qu, Susu; Wang, Weixiao; Guo, Liyuan; Zhang, Kunlin; Chang, Suhua; Wang, Jing

    2016-11-01

    Numbers of gene expression profiling studies of bipolar disorder have been published. Besides different array chips and tissues, variety of the data processes in different cohorts aggravated the inconsistency of results of these genome-wide gene expression profiling studies. By searching the gene expression databases, we obtained six data sets for prefrontal cortex (PFC) of bipolar disorder with raw data and combinable platforms. We used standardized pre-processing and quality control procedures to analyze each data set separately and then combined them into a large gene expression matrix with 101 bipolar disorder subjects and 106 controls. A standard linear mixed-effects model was used to calculate the differentially expressed genes (DEGs). Multiple levels of sensitivity analyses and cross validation with genetic data were conducted. Functional and network analyses were carried out on basis of the DEGs. In the result, we identified 198 unique differentially expressed genes in the PFC of bipolar disorder and control. Among them, 115 DEGs were robust to at least three leave-one-out tests or different pre-processing methods; 51 DEGs were validated with genetic association signals. Pathway enrichment analysis showed these DEGs were related with regulation of neurological system, cell death and apoptosis, and several basic binding processes. Protein-protein interaction network further identified one key hub gene. We have contributed the most comprehensive integrated analysis of bipolar disorder expression profiling studies in PFC to date. The DEGs, especially those with multiple validations, may denote a common signature of bipolar disorder and contribute to the pathogenesis of disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

    Directory of Open Access Journals (Sweden)

    Cali E Willet

    Full Text Available Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant. Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

  9. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

    Science.gov (United States)

    Willet, Cali E; Makara, Mariano; Reppas, George; Tsoukalas, George; Malik, Richard; Haase, Bianca; Wade, Claire M

    2015-01-01

    Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant). Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

  10. Active reward processing during human sleep: insights from sleep-related eating disorder

    Directory of Open Access Journals (Sweden)

    Lampros ePerogamvros

    2012-11-01

    Full Text Available In this paper, we present two carefully documented cases of patients with sleep-related eating disorder (SRED, a parasomnia which is characterized by involuntary compulsive eating during the night and whose pathophysiology is not known. Using video-polysomnography and psychometric examination, we found that both patients present elevated novelty seeking and increased reward sensitivity on reward-related questionnaires. In light of new evidence on the mesolimbic dopaminergic implication in compulsive eating disorders, our findings suggest a role of an active reward system during sleep in the manifestation of SRED.

  11. Quadrivalent human papillomavirus vaccination in girls and the risk of autoimmune disorders: the Ontario Grade 8 HPV Vaccine Cohort Study

    Science.gov (United States)

    Liu, Erin Y.; Smith, Leah M.; Ellis, Anne K.; Whitaker, Heather; Law, Barbara; Kwong, Jeffrey C.; Farrington, Paddy

    2018-01-01

    BACKGROUND: Despite demonstrated effectiveness in real-world settings, concerns persist regarding the safety of the quadrivalent human papillomavirus (HPV4) vaccine. We sought to assess the risk of autoimmune disorders following HPV4 vaccination among grade 8 girls eligible for Ontario’s school-based HPV vaccination program. METHODS: We undertook a population-based retrospective cohort study using Ontario’s administrative health and vaccination databases from 2007 to 2013. The self-controlled case series method was used to compare the rate of a composite end point of autoimmune disorders diagnosed during days 7–60 post-vaccination (“exposed” follow-up) to that at any other time (“unexposed”). The analysis was repeated to assess the effect of a history of immune-mediated diseases and time since vaccination. We also conducted an exploratory analysis of individual autoimmune disorders. Rate ratios and 95% confidence intervals (CIs) were estimated using conditional Poisson regression, adjusted for age, seasonality, concomitant vaccinations and infections. RESULTS: The study cohort consisted of 290 939 girls aged 12–17 years who were eligible for vaccination between 2007 and 2013. There was no significant risk for developing an autoimmune disorder following HPV4 vaccination (n = 681; rate ratio 1.12, 95% CI 0.85–1.47), and the association was unchanged by a history of immune-mediated disorders and time since vaccination. Exploratory analyses of individual autoimmune disorders found no significant risks, including for Bell palsy (n = 65; rate ratio 1.73, 95% CI 0.77–3.89), optic neuritis (n = 67; rate ratio 1.57, 95% CI 0.74–3.33) and Graves disease (n = 47; rate ratio 1.55, 95% CI 0.92–2.63). INTERPRETATION: We did not observe an increased risk of autoimmune disorders following HPV4 vaccination among teenaged girls. These findings should reassure parents and health care providers. PMID:29807937

  12. Echocardiographic and clinical outcomes of central versus noncentral percutaneous edge-to-edge repair of degenerative mitral regurgitation

    DEFF Research Database (Denmark)

    Estévez-Loureiro, Rodrigo; Franzen, Olaf; Winter, Reidar

    2013-01-01

    This study aimed to assess the clinical and echocardiographic results of MitraClip implantation in noncentral degenerative mitral regurgitation (dMR) compared with central dMR.......This study aimed to assess the clinical and echocardiographic results of MitraClip implantation in noncentral degenerative mitral regurgitation (dMR) compared with central dMR....

  13. Disorders of the lower cranial nerves

    Science.gov (United States)

    Finsterer, Josef; Grisold, Wolfgang

    2015-01-01

    Lesions of the lower cranial nerves (LCN) are due to numerous causes, which need to be differentiated to optimize management and outcome. This review aims at summarizing and discussing diseases affecting LCN. Review of publications dealing with disorders of the LCN in humans. Affection of multiple LCN is much more frequent than the affection of a single LCN. LCN may be affected solely or together with more proximal cranial nerves, with central nervous system disease, or with nonneurological disorders. LCN lesions have to be suspected if there are typical symptoms or signs attributable to a LCN. Causes of LCN lesions can be classified as genetic, vascular, traumatic, iatrogenic, infectious, immunologic, metabolic, nutritional, degenerative, or neoplastic. Treatment of LCN lesions depends on the underlying cause. An effective treatment is available in the majority of the cases, but a prerequisite for complete recovery is the prompt and correct diagnosis. LCN lesions need to be considered in case of disturbed speech, swallowing, coughing, deglutition, sensory functions, taste, or autonomic functions, neuralgic pain, dysphagia, head, pharyngeal, or neck pain, cardiac or gastrointestinal compromise, or weakness of the trapezius, sternocleidomastoid, or the tongue muscles. To correctly assess manifestations of LCN lesions, precise knowledge of the anatomy and physiology of the area is required. PMID:26167022

  14. Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination

    NARCIS (Netherlands)

    Kiritsi, Dimitra; He, Yinghong; Pasmooij, Anna M. G.; Onder, Meltem; Happle, Rudolf; Jonkman, Marcel F.; Bruckner-Tuderman, Leena; Has, Cristina

    Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. Genetic reversion may occur through different mechanisms, and in a single individual, the mutation can be repaired in

  15. Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

    NARCIS (Netherlands)

    Chrast, R.; Saher, G.; Nave, K.A.; Verheijen, M.H.G.

    2011-01-01

    The integrity of central and peripheral nervous system myelin is affected in numerous lipid metabolism disorders. This vulnerability was so far mostly attributed to the extraordinarily high level of lipid synthesis that is required for the formation of myelin, and to the relative autonomy in lipid

  16. A human phenome-interactome network of protein complexes implicated in genetic disorders

    DEFF Research Database (Denmark)

    Hansen, Kasper Lage; Karlberg, Erik, Olof, Linnart; Størling, Zenia, Marian

    2007-01-01

    the known disease-causing protein as the top candidate, and in 870 intervals with no identified disease-causing gene, provides novel candidates implicated in disorders such as retinitis pigmentosa, epithelial ovarian cancer, inflammatory bowel disease, amyotrophic lateral sclerosis, Alzheimer disease, type...

  17. Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames

    Directory of Open Access Journals (Sweden)

    Matthis Synofzik

    2014-01-01

    Full Text Available The cerebellum is essentially involved in movement control and plays a critical role in motor learning. It has remained controversial whether patients with degenerative cerebellar disease benefit from high-intensity coordinative training. Moreover, it remains unclear by which training methods and mechanisms these patients might improve their motor performance. Here, we review evidence from different high-intensity training studies in patients with degenerative spinocerebellar disease. These studies demonstrate that high-intensity coordinative training might lead to a significant benefit in patients with degenerative ataxia. This training might be based either on physiotherapy or on whole-body controlled videogames (“exergames”. The benefit shown in these studies is equal to regaining one or more years of natural disease progression. In addition, first case studies indicate that even subjects with advanced neurodegeneration might benefit from such training programs. For both types of training, the observed clinical improvements are paralleled by recoveries in ataxia-specific dysfunctions (e.g., multijoint coordination and dynamic stability. Importantly, for both types of training, the retention of the effects seems to depend on the frequency and continuity of training. Based on these studies, we here present preliminary recommendations for clinical practice, and articulate open questions that might guide future studies on neurorehabilitation in degenerative spinocerebellar disease.

  18. Plasma and tissue oxidative stress index in patients with rheumatic and degenerative heart valve disease.

    Science.gov (United States)

    Rabus, Murat; Demirbağ, Recep; Sezen, Yusuf; Konukoğlu, Oğuz; Yildiz, Ali; Erel, Ozcan; Zeybek, Rahmi; Yakut, Cevat

    2008-12-01

    We investigated whether patients with rheumatic and degenerative heart valve disease (HVD) differed with regard to plasma and tissue oxidative stress index (OSI). The study included 56 patients who underwent valve replacement due to rheumatic (n=32; 15 males; mean age 47+/-10 years) and degenerative (n=24; 13 males; mean age 55+/-12 years) HVD. Plasma and tissue total oxidative status (TOS) and total antioxidative capacity (TAC) levels were measured and OSI was calculated. Patients with degenerative HVD had significantly higher age, increased interventricular septum thickness, and higher frequency of aortic stenosis, whereas the incidence of mitral stenosis was higher in patients with rheumatic HVD (p0.05). Tissue TAC was significantly lower in patients with rheumatic HVD (p=0.027), whereas tissue TOS and OSI were similar between the two HVD groups (p>0.05). In bivariate analysis, plasma OSI did not show any correlation with clinical, laboratory, and echocardiographic variables (p>0.05). Our data show that plasma and tissue OSI levels are similar in patients with rheumatic and degenerative HVD.

  19. Dietary Phytochemicals: Natural Swords Combating Inflammation and Oxidation-Mediated Degenerative Diseases.

    Science.gov (United States)

    Islam, Md Asiful; Alam, Fahmida; Solayman, Md; Khalil, Md Ibrahim; Kamal, Mohammad Amjad; Gan, Siew Hua

    2016-01-01

    Cumulatively, degenerative disease is one of the most fatal groups of diseases, and it contributes to the mortality and poor quality of life in the world while increasing the economic burden of the sufferers. Oxidative stress and inflammation are the major pathogenic causes of degenerative diseases such as rheumatoid arthritis (RA), diabetes mellitus (DM), and cardiovascular disease (CVD). Although a number of synthetic medications are used to treat these diseases, none of the current regimens are completely safe. Phytochemicals (polyphenols, carotenoids, anthocyanins, alkaloids, glycosides, saponins, and terpenes) from natural products such as dietary fruits, vegetables, and spices are potential sources of alternative medications to attenuate the oxidative stress and inflammation associated with degenerative diseases. Based on in vitro , in vivo , and clinical trials, some of these active compounds have shown good promise for development into novel agents for treating RA, DM, and CVD by targeting oxidative stress and inflammation. In this review, phytochemicals from natural products with the potential of ameliorating degenerative disease involving the bone, metabolism, and the heart are described.

  20. Dietary Phytochemicals: Natural Swords Combating Inflammation and Oxidation-Mediated Degenerative Diseases

    Directory of Open Access Journals (Sweden)

    Md. Asiful Islam

    2016-01-01

    Full Text Available Cumulatively, degenerative disease is one of the most fatal groups of diseases, and it contributes to the mortality and poor quality of life in the world while increasing the economic burden of the sufferers. Oxidative stress and inflammation are the major pathogenic causes of degenerative diseases such as rheumatoid arthritis (RA, diabetes mellitus (DM, and cardiovascular disease (CVD. Although a number of synthetic medications are used to treat these diseases, none of the current regimens are completely safe. Phytochemicals (polyphenols, carotenoids, anthocyanins, alkaloids, glycosides, saponins, and terpenes from natural products such as dietary fruits, vegetables, and spices are potential sources of alternative medications to attenuate the oxidative stress and inflammation associated with degenerative diseases. Based on in vitro, in vivo, and clinical trials, some of these active compounds have shown good promise for development into novel agents for treating RA, DM, and CVD by targeting oxidative stress and inflammation. In this review, phytochemicals from natural products with the potential of ameliorating degenerative disease involving the bone, metabolism, and the heart are described.

  1. First sternocostal degenerative arthritis with intrarticular fluid collection. A case report.

    Science.gov (United States)

    Chalazonitis, Athanasios N; Condilis, Nicolas; Tilentzoglou, Anastasia C; Pontikis, John; Tzovara, Joannie

    2006-01-01

    A rare case with clinical condition of first sternocostal degenerative arthritis with intra-articular fluid collection that developed after long-lasting intense exercise (weight-lifting) for twenty years is reported. Imaging findings and differential diagnoses of the case are presented.

  2. A 12-Week Exercise Therapy Program in Middle-Aged Patients With Degenerative Meniscus Tears

    DEFF Research Database (Denmark)

    Stensrud, Silje; Roos, Ewa M.; Risberg, May Arna

    2012-01-01

    Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 STUDY DESIGN: Case Series. BACKGROUND: Exercise is a viable treatment alternative to arthroscopic partial meniscectomy in patients with degenerative meniscus tears. No study has reported in detail type of exercises, progres......Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 STUDY DESIGN: Case Series. BACKGROUND: Exercise is a viable treatment alternative to arthroscopic partial meniscectomy in patients with degenerative meniscus tears. No study has reported in detail type of exercises......, progression, tolerance, and potential benefit from an exercise therapy program in these patients who have not had surgery. This study describes a progressive exercise therapy program aiming at improving neuromuscular function and muscle strength in middle-aged patients with degenerative meniscus tears...... had undergone surgery. DISCUSSION: The described neuromuscular- and strength-training program should be considered for rehabilitation of middle-aged individuals with degenerative meniscus tears. Head-to-head comparison of programs in a randomized design is however needed to be able to answer...

  3. Intraosseouss degenerative cyst of the axis approached via transcervical extrapharyngeal avenue

    Directory of Open Access Journals (Sweden)

    Gustavo Rassier Isolan

    2012-01-01

    Full Text Available Intraosseous degenerative cysts (IDC of the cervical spine are rare. IDC within C2 have been reported in three articles only. We report a patient with neck pain due to a IDC within C2. We discuss the differential diagnosis of these lesions and the surgical approaches to reach this complex anatomical region.

  4. Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames

    Science.gov (United States)

    2014-01-01

    The cerebellum is essentially involved in movement control and plays a critical role in motor learning. It has remained controversial whether patients with degenerative cerebellar disease benefit from high-intensity coordinative training. Moreover, it remains unclear by which training methods and mechanisms these patients might improve their motor performance. Here, we review evidence from different high-intensity training studies in patients with degenerative spinocerebellar disease. These studies demonstrate that high-intensity coordinative training might lead to a significant benefit in patients with degenerative ataxia. This training might be based either on physiotherapy or on whole-body controlled videogames (“exergames”). The benefit shown in these studies is equal to regaining one or more years of natural disease progression. In addition, first case studies indicate that even subjects with advanced neurodegeneration might benefit from such training programs. For both types of training, the observed clinical improvements are paralleled by recoveries in ataxia-specific dysfunctions (e.g., multijoint coordination and dynamic stability). Importantly, for both types of training, the retention of the effects seems to depend on the frequency and continuity of training. Based on these studies, we here present preliminary recommendations for clinical practice, and articulate open questions that might guide future studies on neurorehabilitation in degenerative spinocerebellar disease. PMID:24877117

  5. No publication bias in industry funded clinical trials of degenerative diseases of the spine.

    Science.gov (United States)

    Son, Colin; Tavakoli, Samon; Bartanusz, Viktor

    2016-03-01

    Industry sponsorship of clinical research of degenerative diseases of the spine has been associated with excessive positive published results as compared to research carried out without industry funding. We sought the rates of publication of clinical trials of degenerative diseases of the spine based on funding source as a possible explanation for this phenomenon. We reviewed all clinical trials registered at clinicaltrials.gov relating to degenerative diseases of the spine as categorized under six medical subject heading terms (spinal stenosis, spondylolisthesis, spondylolysis, spondylosis, failed back surgery syndrome, intervertebral disc degeneration) and with statuses of completed or terminated. These collected studies were categorized as having, or not having, industry funding. Published results for these studies were then sought within the clinicaltrials.gov database itself, PubMed and Google Scholar. One hundred sixty-one clinical trials met these criteria. One hundred nineteen of these trials had industry funding and 42 did not. Of those with industry funding, 45 (37.8%) had identifiable results. Of those without industry funding, 17 (40.5%) had identifiable results. There was no difference in the rates of publication of results from clinical trials of degenerative diseases of the spine no matter the funding source. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Premature epiphyseal fusion and degenerative arthritis in chronic recurrent multifocal osteomyelitis

    International Nuclear Information System (INIS)

    Piddo, C.; Reed, M.H.; Black, G.B.

    2000-01-01

    A 9-year-old boy was diagnosed with chronic recurrent multifocal osteomyelitis affecting multiple sites. During an 8-year follow-up he developed premature closure of a distal radial epiphysis and degenerative changes in the adjacent radiocarpal joint. (orig.)

  7. Magnetic resonance imaging in the diagnosis of degenerative lumbosacral stenosis in four dogs

    International Nuclear Information System (INIS)

    Haan, J.J. de; Shelton, S.B.; Ackerman, N.

    1993-01-01

    Magnetic resonance imaging was used to diagnose degenerative lumbosacral stenosis in four dogs that had physical and neurologic signs consistent with a cauda equina lesion. Nerve root displacement by protruding disc material and loss of epidural fat were identified. In all dogs, the diagnosis was confirmed by dorsal laminectomy of the lumbosacral area

  8. Comparing surgical repair with conservative treatment for degenerative rotator cuff tears : a randomized controlled trial

    NARCIS (Netherlands)

    Lambers Heerspink, Okke; van Raay, Jos J. A. M.; Koorevaar, Rinco C. T.; van Eerden, Pepijn J. M.; Westerbeek, Robin E.; van 't Riet, Esther; van den Akker-Scheek, Inge; Diercks, Ronald L.

    Background: Good clinical results have been reported for both surgical and conservative treatment of rotator cuff tears. The primary aim of this randomized controlled trial was to compare functional and radiologic improvement after surgical and conservative treatment of degenerative rotator cuff

  9. Teaching Early Braille Literacy Skills within a Stimulus Equivalence Paradigm to Children with Degenerative Visual Impairments

    Science.gov (United States)

    Toussaint, Karen A.; Tiger, Jeffrey H.

    2010-01-01

    Despite the need for braille literacy, there has been little attempt to systematically evaluate braille-instruction programs. The current study evaluated an instructive procedure for teaching early braille-reading skills with 4 school-aged children with degenerative visual impairments. Following a series of pretests, braille instruction involved…

  10. Effect of an increased dosage of statins on spinal degenerative joint disease: a retrospective cohort study.

    Science.gov (United States)

    Cheng, Yuan-Yang; Kao, Chung-Lan; Lin, Shih-Yi; Chang, Shin-Tsu; Wei, Tz-Shiang; Chang, Shih-Ni; Lin, Ching-Heng

    2018-02-08

    It has been proven that statin can protect synovial joints from developing osteoarthritis through its anti-inflammatory effects. However, studies on the effect of statins on spinal degenerative joint diseases are few and limited to in vitro studies. Therefore, we investigated the relationship between the statin dosage and the development of spinal degenerative joint diseases. A retrospective cohort study. Patients registered in Taiwan National Health Insurance Research Database. Patients aged 40-65 years old from 2001 to 2010 were included. Those who received statin treatment before 2001, were diagnosed with spinal degenerative joint diseases or received any spinal surgery before 2004 or had any spinal trauma before 2011 were excluded. A total of 7238 statin users and 164 454 non-users were identified and followed up for the next 7 years to trace the development of spinal degenerative joint disease. The incident rate of spinal degenerative joint diseases and HRs among the groups treated with different statin dosages. A higher dosage of statins was associated with a significantly lower risk of developing spinal degenerative joint disease in patients with hypercholesterolaemia. Compared with the group receiving less than 5400 mg of a statin, the HR of the 11 900-28 000 mg group was 0.83 (95% CI 0.70 to 0.99), and that of the group receiving more than 28 000 mg was 0.81 (95% CI 0.68 to 0.97). Results of subgroup analysis showed a significantly lower risk in men, those aged 50-59 years and those with a monthly income less than US$600. Our study's findings clearly indicated that a higher dosage of statins can reduce the incidence of spinal degenerative joint disease in patients with hypercholesterolaemia, and it can be beneficial for people with a higher risk of spine degeneration. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise

  11. Lumbar spine degenerative disease : effect on bone mineral density measurements in the lumbar spine and femoral neck

    International Nuclear Information System (INIS)

    Juhng, Seon Kwan; Koplyay, Peter; Jeffrey Carr, J.; Lenchik, Leon

    2001-01-01

    To determine the effect of degenerative disease of the lumbar spine on bone mineral density in the lumbar spine and femoral neck. We reviewed radiographs and dual energy x-ray absorptiometry scans of the lumbar spine and hip in 305 Caucasian women with suspected osteoporosis. One hundred and eight-six patient remained after excluding women less than 40 years of age (n=18) and those with hip osteoarthritis, scoliosis, lumbar spine fractures, lumbar spinal instrumentation, hip arthroplasty, metabolic bone disease other than osteoporosis, or medications known to influence bone metabolism (n=101). On the basis of lumbar spine radiographs, those with absent/mild degenerative disease were assigned to the control group and those with moderate/severe degenerative disease to the degenerative group. Spine radiographs were evaluated for degenerative disease by two radiologists working independently; discrepant evaluations were resolved by consensus. Lumbar spine and femoral neck bone mineral density was compared between the two groups. Forty-five (24%) of 186 women were assigned to the degenerative group and 141 (76%) to the control group. IN the degenerative group, mean bone mineral density measured 1.075g/cm? in the spine and 0.788g/cm 2 in the femoral neck, while for controls the corresponding figures were 0.989g/cm 2 and 0.765g/cm 2 . Adjusted for age, weight and height by means of analysis of variance, degenerative disease of the lumbar spine was a significant predictor of increased bone mineral density in the spine (p=0.0001) and femoral neck (p=0.0287). Our results indicate a positive relationship between degenerative disease of the lumbar spine and bone mineral density in the lumbar spine and femoral neck, and suggest that degenerative disease in that region, which leads to an intrinsic increase in bone mineral density in the femoral neck, may be a good negative predictor of osteoporotic hip fractures

  12. Alteraciones del polo posterior en la miopía degenerativa Alterations of the posterior pole in degenerative myopia patients

    Directory of Open Access Journals (Sweden)

    Suzel Ivón Lapido Polanco

    2012-12-01

    Full Text Available La miopía degenerativa constituye una de las causas fundamentales de pérdida de la visión. Esto está relacionado con las alteraciones del polo posterior, que afectan la retina neurosensorial, el epitelio pigmentario de la retina y las capas más internas de la coroides. Su curso lento y progresivo demanda una exploración integral, con seguimiento en el tiempo y constituye un reto para el oftalmólogo. Se realizó una revisión de artículos publicados e indexados en la base de datos de PubMed que se refirieran a las características clínicas del fondo de ojo en pacientes con miopía degenerativa, para describir las principales alteraciones del polo posterior del globo ocular en esta entidad. Se encontró entre las lesiones típicas de la alta miopía, al estafiloma posterior como un signo patognomónico de la enfermedad, asociado a la atrofia coriorretiniana en parches o difusa, así como las estrías de laca y las hemorragias maculares secundarias a ellas o provenientes de membranas neovasculares coroideas. La tomografía de coherencia óptica ha permitido un diagnóstico más preciso de otras lesiones maculares como la foveosquisis, el agujero macular y, más recientemente, la mácula en domo. Los cambios degenerativos del polo posterior parecen guardar relación unos con otros pero la patogenia no ha sido bien esclarecida a pesar de los avances tecnológicos.Degenerative myopia is one of the main causes of visual impairment. This is related to disorders in the posterior pole, affecting the neurosensorial retina, the retinal pigmented epithelium and the inner choroidal layers. The slow and progressive course of this condition demands comprehensive assessment and long follow-up, which is a challenging task for ophthalmologists. A review of the articles indexed in PubMed regarding the clinical characteristics of the fundus in patients with degenerative myopia was made to describe the main disorders of the posterior pole of the eyeball

  13. Treatment of middle ear ventilation disorders: sheep as animal model for stenting the human Eustachian tube--a cadaver study.

    Directory of Open Access Journals (Sweden)

    Felicitas Miller

    Full Text Available Eustachian tube disorders can lead to chronic otitis media with consecutive conductive hearing loss. To improve treatment and to develop new types of implants such as stents, an adequate experimental animal model is required. As the middle ear of sheep is known to be comparable to the human middle ear, the dimensions of the Eustachian tube in two strains of sheep were investigated. The Eustachian tube and middle ear of half heads of heathland and blackface sheep were filled with silicone rubber, blended with barium sulfate to induce X-ray visibility. Images were taken by digital volume tomography. The tubes were segmented, and a three-dimensional model of every Eustachian tube was generated. The lengths, diameters and shapes were determined. Additionally, the feasibility of endoscopic stent implantation and fixation was tested in cadaver experiments. The length of the tube between ostium pharyngeum and the isthmus and the diameters were comparable to published values for the human tube. The tube was easily accessible through the nose, and then stents could be implanted and fixed at the isthmus. The sheep appears to be a promising model for testing new stent treatments for middle ear ventilation disorders.

  14. Comparative studies of placentation and immunology in non-human primates suggest a scenario for the evolution of deep trophoblast invasion and an explanation for human pregnancy disorders.

    Science.gov (United States)

    Carter, Anthony M

    2011-04-01

    Deep trophoblast invasion in the placental bed has been considered the hallmark of human pregnancy. It occurs by two routes, interstitial and endovascular, and results in transformation of the walls of the spiral arteries as they traverse the decidua and the inner third of the myometrium. Disturbances in this process are associated with reproductive disorders such preeclampsia. In contrast, trophoblast invasion in Old World monkeys occurs only by the endovascular route and seldom reaches the myometrium. Recently, it was shown that this pattern is maintained in gibbons, but that the human arrangement also occurs in chimpanzee and gorilla. There is an interesting parallel with results from placental immunology regarding the evolution of the major histocompatability complex class I antigen HLA-C and its cognate receptors. HLA-C is not present in Old World monkeys or gibbons. It emerged in the orangutan and became polymorphic in the lineage leading to gorilla, bonobo, chimpanzee, and human. Interaction between HLA-C1 and HLA-C2 on the surface of trophoblast and killer immunoglobulin-like receptors (KIRs) expressed by uterine natural killer cells are important regulators of trophoblast invasion. Evolution of this system in great apes may have been one prerequisite for deep trophoblast invasion but seems to have come at a price. The evidence now suggests that certain combinations of maternal genotype for KIRs and fetal genotype for HLA-C imply an increased risk of preeclampsia, fetal growth restriction, and recurrent abortion. The fetal genotype is in part derived from the father providing an explanation for the paternal contribution to reproductive disorders.

  15. Post-traumatic stress disorder associated with natural and human-made disasters in the World Mental Health Surveys

    Science.gov (United States)

    Bromet, E. J.; Atwoli, L.; Kawakami, N.; Navarro-Mateu, F.; Piotrowski, P.; King, A. J.; Aguilar-Gaxiola, S.; Alonso, J.; Bunting, B.; Demyttenaere, K.; Florescu, S.; de Girolamo, G.; Gluzman, S.; Haro, J. M.; de Jonge, P.; Karam, E. G.; Lee, S.; Kovess-Masfety, V.; Medina-Mora, M. E.; Mneimneh, Z.; Pennell, B.-E.; Posada-Villa, J.; Salmerón, D.; Takeshima, T.; Kessler, R. C.

    2017-01-01

    Background Research on post-traumatic stress disorder (PTSD) following natural and human-made disasters has been undertaken for more than three decades. Although PTSD prevalence estimates vary widely, most are in the 20–40% range in disaster-focused studies but considerably lower (3–5%) in the few general population epidemiological surveys that evaluated disaster-related PTSD as part of a broader clinical assessment. The World Mental Health (WMH) Surveys provide an opportunity to examine disaster-related PTSD in representative general population surveys across a much wider range of sites than in previous studies. Method Although disaster-related PTSD was evaluated in 18 WMH surveys, only six in high-income countries had enough respondents for a risk factor analysis. Predictors considered were socio-demographics, disaster characteristics, and pre-disaster vulnerability factors (childhood family adversities, prior traumatic experiences, and prior mental disorders). Results Disaster-related PTSD prevalence was 0.0–3.8% among adult (ages 18+) WMH respondents and was significantly related to high education, serious injury or death of someone close, forced displacement from home, and pre-existing vulnerabilities (prior childhood family adversities, other traumas, and mental disorders). Of PTSD cases 44.5% were among the 5% of respondents classified by the model as having highest PTSD risk. Conclusion Disaster-related PTSD is uncommon in high-income WMH countries. Risk factors are consistent with prior research: severity of exposure, history of prior stress exposure, and pre-existing mental disorders. The high concentration of PTSD among respondents with high predicted risk in our model supports the focus of screening assessments that identify disaster survivors most in need of preventive interventions. PMID:27573281

  16. Post-traumatic stress disorder associated with natural and human-made disasters in the World Mental Health Surveys.

    Science.gov (United States)

    Bromet, E J; Atwoli, L; Kawakami, N; Navarro-Mateu, F; Piotrowski, P; King, A J; Aguilar-Gaxiola, S; Alonso, J; Bunting, B; Demyttenaere, K; Florescu, S; de Girolamo, G; Gluzman, S; Haro, J M; de Jonge, P; Karam, E G; Lee, S; Kovess-Masfety, V; Medina-Mora, M E; Mneimneh, Z; Pennell, B-E; Posada-Villa, J; Salmerón, D; Takeshima, T; Kessler, R C

    2017-01-01

    Research on post-traumatic stress disorder (PTSD) following natural and human-made disasters has been undertaken for more than three decades. Although PTSD prevalence estimates vary widely, most are in the 20-40% range in disaster-focused studies but considerably lower (3-5%) in the few general population epidemiological surveys that evaluated disaster-related PTSD as part of a broader clinical assessment. The World Mental Health (WMH) Surveys provide an opportunity to examine disaster-related PTSD in representative general population surveys across a much wider range of sites than in previous studies. Although disaster-related PTSD was evaluated in 18 WMH surveys, only six in high-income countries had enough respondents for a risk factor analysis. Predictors considered were socio-demographics, disaster characteristics, and pre-disaster vulnerability factors (childhood family adversities, prior traumatic experiences, and prior mental disorders). Disaster-related PTSD prevalence was 0.0-3.8% among adult (ages 18+) WMH respondents and was significantly related to high education, serious injury or death of someone close, forced displacement from home, and pre-existing vulnerabilities (prior childhood family adversities, other traumas, and mental disorders). Of PTSD cases 44.5% were among the 5% of respondents classified by the model as having highest PTSD risk. Disaster-related PTSD is uncommon in high-income WMH countries. Risk factors are consistent with prior research: severity of exposure, history of prior stress exposure, and pre-existing mental disorders. The high concentration of PTSD among respondents with high predicted risk in our model supports the focus of screening assessments that identify disaster survivors most in need of preventive interventions.

  17. Heme orientational disorder in human adult hemoglobin reconstituted with a ring fluorinated heme and its functional consequences

    International Nuclear Information System (INIS)

    Nagao, Satoshi; Hirai, Yueki; Kawano, Shin; Imai, Kiyohiro; Suzuki, Akihiro; Yamamoto, Yasuhiko

    2007-01-01

    A ring fluorinated heme, 13,17-bis(2-carboxylatoethyl)-3,8-diethyl-2-fluoro-7,12, 18-trimethyl-porphyrin-atoiron(III), has been incorporated into human adult hemoglobin (Hb A). The heme orientational disorder in the individual subunits of the protein has been readily characterized using 19 F NMR and the O 2 binding properties of the protein have been evaluated through the oxygen equilibrium analysis. The equilibrated orientations of hemes in α- and β- subunits of the reconstituted protein were found to be almost completely opposite to each other, and hence were largely different from those of the native and the previously reported reconstituted proteins [T. Jue, G.N. La Mar, Heme orientational heterogeneity in deuterohemin-reconstituted horse and human hemoglobin characterized by proton nuclear magnetic resonance spectroscopy, Biochem. Biophys. Res. Commun. 119 (1984) 640-645]. Despite the large difference in the degree of the heme orientational disorder in the subunits of the proteins, the O 2 affinity and the cooperativity of the protein reconstituted with 2-MF were similar to those of the proteins reconstituted with a series of hemes chemically modified at the heme 3- and 8-positions [K. Kawabe, K. Imaizumi, Z. Yoshida, K. Imai, I. Tyuma, Studies on reconstituted myoglobins and hemoglobins II. Role of the heme side chains in the oxygenation of hemoglobin, J. Biochem. 92 (1982) 1713-1722], whose O 2 affinity and cooperativity were higher and lower, respectively, relative to those of native protein. These results indicated that the heme orientational disorder could exert little effect, if any, on the O 2 affinity properties of Hb A. This finding provides new insights into structure-function relationship of Hb A

  18. Diffusion tensor imaging differentiates vascular parkinsonism from parkinsonian syndromes of degenerative origin in elderly subjects

    Energy Technology Data Exchange (ETDEWEB)

    Deverdun, Jérémy [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Laboratoire Charles Coulomb, CNRS UMR 5221 - Université Montpellier II, Montpellier (France); I2FH, Institut d’Imagerie Fonctionnelle Humaine, Hôpital Gui de Chauliac, CHRU de, Montpellier (France); Menjot de Champfleur, Sophie [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Clinique du Parc, Castelnau-le-Lez (France); Cabello-Aguilar, Simon [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); I2FH, Institut d’Imagerie Fonctionnelle Humaine, Hôpital Gui de Chauliac, CHRU de, Montpellier (France); Maury, Florence [Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Molino, François [Laboratoire Charles Coulomb, CNRS UMR 5221 - Université Montpellier II, Montpellier (France); Institut de Génomique Fonctionnelle, UMR 5203 - INSERM U661 - Université Montpellier II - Université, Montpellier I (France); Charif, Mahmoud [Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Leboucq, Nicolas [Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); Ayrignac, Xavier; Labauge, Pierre [Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier (France); and others

    2014-11-15

    Background and Purpose: The etiologic diagnosis of parkinsonian syndromes is of particular importance when considering syndromes of vascular or degenerative origin. The purpose of this study is to find differences in the white-matter architecture between those two groups in elderly patients. Materials and Methods: Thirty-five patients were prospectively included (multiple-system atrophy, n = 5; Parkinson's disease, n = 15; progressive supranuclear palsy, n = 9; vascular parkinsonism, n = 6), with a mean age of 76 years. Patients with multiple-system atrophy, progressive supranuclear palsy and Parkinson's disease were grouped as having parkinsonian syndromes of degenerative origin. Brain MRIs included diffusion tensor imaging. Fractional anisotropy and mean-diffusivity maps were spatially normalized, and group analyses between parkinsonian syndromes of degenerative origin and vascular parkinsonism were performed using a voxel-based approach. Results: Statistical parametric-mapping analysis of diffusion tensor imaging data showed decreased fractional anisotropy value in internal capsules bilaterally in patients with vascular parkinsonism compared to parkinsonian syndromes of degenerative origin (p = 0.001) and showed a lower mean diffusivity in the white matter of the left superior parietal lobule (p = 0.01). Fractional anisotropy values were found decreased in the middle cerebellar peduncles in multiple-system atrophy compared to Parkinson's disease and progressive supranuclear palsy. The mean diffusivity was increased in those regions for these subgroups. Conclusion: Clinically defined vascular parkinsonism was associated with decreased fractional anisotropy in the deep white matter (internal capsules) compared to parkinsonian syndromes of degenerative origin. These findings are consistent with previously published neuropathological data.

  19. Diffusion tensor imaging differentiates vascular parkinsonism from parkinsonian syndromes of degenerative origin in elderly subjects

    International Nuclear Information System (INIS)

    Deverdun, Jérémy; Menjot de Champfleur, Sophie; Cabello-Aguilar, Simon; Maury, Florence; Molino, François; Charif, Mahmoud; Leboucq, Nicolas; Ayrignac, Xavier; Labauge, Pierre

    2014-01-01

    Background and Purpose: The etiologic diagnosis of parkinsonian syndromes is of particular importance when considering syndromes of vascular or degenerative origin. The purpose of this study is to find differences in the white-matter architecture between those two groups in elderly patients. Materials and Methods: Thirty-five patients were prospectively included (multiple-system atrophy, n = 5; Parkinson's disease, n = 15; progressive supranuclear palsy, n = 9; vascular parkinsonism, n = 6), with a mean age of 76 years. Patients with multiple-system atrophy, progressive supranuclear palsy and Parkinson's disease were grouped as having parkinsonian syndromes of degenerative origin. Brain MRIs included diffusion tensor imaging. Fractional anisotropy and mean-diffusivity maps were spatially normalized, and group analyses between parkinsonian syndromes of degenerative origin and vascular parkinsonism were performed using a voxel-based approach. Results: Statistical parametric-mapping analysis of diffusion tensor imaging data showed decreased fractional anisotropy value in internal capsules bilaterally in patients with vascular parkinsonism compared to parkinsonian syndromes of degenerative origin (p = 0.001) and showed a lower mean diffusivity in the white matter of the left superior parietal lobule (p = 0.01). Fractional anisotropy values were found decreased in the middle cerebellar peduncles in multiple-system atrophy compared to Parkinson's disease and progressive supranuclear palsy. The mean diffusivity was increased in those regions for these subgroups. Conclusion: Clinically defined vascular parkinsonism was associated with decreased fractional anisotropy in the deep white matter (internal capsules) compared to parkinsonian syndromes of degenerative origin. These findings are consistent with previously published neuropathological data

  20. Evaluation of Smoking, Diabetes Mellitus and Obesity associations with Degenerative Lumbar Spinal Stenosis in Elderly

    Directory of Open Access Journals (Sweden)

    Laith Thamer Al-Ameri

    2018-05-01

    Full Text Available Background: Degenerative lumbar spinal stenosis (LSS is a common condition affecting mainly old age group with high incidence and prevalence, and is associated with many factors. Aim: Our study aimed to evaluate smoking, diabetes mellitus and obesity associations with degenerative LSS. Patients and methods: A comparative crosssectional study with participants aged 60 years or older. Participants suffering from degenerative LSS were enrolled as the diseased group after diagnosis with MRI, healthy persons (age and gender matched were considered as control group. Smoking, diabetes mellitus and obesity variables were collected and analyzed using chi-square and odds ratio. Results: Around 162 participants enrolled the study, 62 were considered as degenerative LSS group, whereas 100 were considered as the control group. In LSS group, a picture obtained was of 20:42 smokers to non-smoker, 22:20 diabetic to non-diabetic, 37:25 obese to non-obese. While in the controlled group a picture was obtained with 18:82 smokers to non-smoker, 18-82 diabetic to non-diabetic, 34:66 obese to non-obese. Chi-square p-value was of 0.037, 0.012 and 0.001 for smoking, diabetes mellitus, and obesity, respectively. The odd ratio was 2.17, 2.5 and 2.87 for smoking, diabetes mellitus, and obesity, respectively. All above results were significant. Conclusion: Each of smoking, diabetes mellitus, and obesity has a great association with the development of degenerative LSS in elderly age group. Obesity shows the highest association among them

  1. Simplifying the human serum proteome for discriminating patients with bipolar disorder of other psychiatry conditions.

    Science.gov (United States)

    de Jesus, Jemmyson Romário; Galazzi, Rodrigo Moretto; de Lima, Tatiani Brenelli; Banzato, Cláudio Eduardo Muller; de Almeida Lima E Silva, Luiz Fernando; de Rosalmeida Dantas, Clarissa; Gozzo, Fábio Cézar; Arruda, Marco Aurélio Zezzi

    2017-12-01

    An exploratory analysis using proteomic strategies in blood serum of patients with bipolar disorder (BD), and with other psychiatric conditions such as Schizophrenia (SCZ), can provide a better understanding of this disorder, as well as their discrimination based on their proteomic profile. The proteomic profile of blood serum samples obtained from patients with BD using lithium or other drugs (N=14), healthy controls, including non-family (HCNF; N=3) and family (HCF; N=9), patients with schizophrenia (SCZ; N=23), and patients using lithium for other psychiatric conditions (OD; N=4) were compared. Four methods for simplifying the serum samples proteome were evaluated for both removing the most abundant proteins and for enriching those of lower-abundance: protein depletion with acetonitrile (ACN), dithiothreitol (DTT), sequential depletion using DTT and ACN, and protein equalization using commercial ProteoMiner® kit (PM). For proteomic evaluation, 2-D DIGE and nanoLC-MS/MS analysis were employed. PM method was the best strategy for removing proteins of high abundance. Through 2-D DIGE gel image comparison, 37 protein spots were found differentially abundant (p<0.05, Student's t-test), which exhibited ≥2.0-fold change of the average value of normalized spot intensities in the serum of SCZ, BD and OD patients compared to subject controls (HCF and HCNF). From these spots detected, 13 different proteins were identified: ApoA1, ApoE, ApoC3, ApoA4, Samp, SerpinA1, TTR, IgK, Alb, VTN, TR, C4A and C4B. Proteomic analysis allowed the discrimination of patients with BD from patients with other mental disorders, such as SCZ. The findings in this exploratory study may also contribute for better understanding the pathophysiology of these disorders and finding potential serum biomarkers for these conditions. Copyright © 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  2. Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.

    Science.gov (United States)

    Chrast, Roman; Saher, Gesine; Nave, Klaus-Armin; Verheijen, Mark H G

    2011-03-01

    The integrity of central and peripheral nervous system myelin is affected in numerous lipid metabolism disorders. This vulnerability was so far mostly attributed to the extraordinarily high level of lipid synthesis that is required for the formation of myelin, and to the relative autonomy in lipid synthesis of myelinating glial cells because of blood barriers shielding the nervous system from circulating lipids. Recent insights from analysis of inherited lipid disorders, especially those with prevailing lipid depletion and from mouse models with glia-specific disruption of lipid metabolism, shed new light on this issue. The particular lipid composition of myelin, the transport of lipid-associated myelin proteins, and the necessity for timely assembly of the myelin sheath all contribute to the observed vulnerability of myelin to perturbed lipid metabolism. Furthermore, the uptake of external lipids may also play a role in the formation of myelin membranes. In addition to an improved understanding of basic myelin biology, these data provide a foundation for future therapeutic interventions aiming at preserving glial cell integrity in metabolic disorders.

  3. [Consensus statement on metabolic disorders and cardiovascular risks in patients with human immunodeficiency virus].

    Science.gov (United States)

    Polo Rodríguez, Rosa; Galindo Puerto, María José; Dueñas, Carlos; Gómez Candela, Carmen; Estrada, Vicente; Villar, Noemí G P; Locutura, Jaime; Mariño, Ana; Pascua, Javier; Palacios, Rosario; von Wichmman, Miguel Ángel; Álvarez, Julia; Asensi, Victor; Lopez Aldeguer, José; Lozano, Fernando; Negredo, Eugenia; Ortega, Enrique; Pedrol, Enric; Gutiérrez, Félix; Sanz Sanz, Jesús; Martínez Chamorro, Esteban

    2015-01-01

    This consensus document is an update of metabolic disorders and cardiovascular risk (CVR) guidelines for HIV-infected patients. This document has been approved by an expert panel of GEAM, SPNS and GESIDA after reviewing the results of efficacy and safety of clinical trials, cohort and pharmacokinetic studies published in biomedical journals (PubMed and Embase) or presented in medical scientific meetings. Recommendation strength and the evidence in which they are supported are based on the GRADE system. A healthy lifestyle is recommended, no smoking and at least 30min of aerobic exercise daily. In diabetic patients the same treatment as non-HIV infected patients is recommended. HIV patients with dyslipidemia should be considered as high CVR, thus its therapeutic objective is an LDL less than 100mg/dL. The antihypertensive of ACE inhibitors and ARAII families are better tolerated and have a lower risk of interactions. In HIV-patients with diabetes or metabolic syndrome and elevated transaminases with no defined etiology, the recommended is to rule out a hepatic steatosis Recommendations for action in hormone alterations are also updated. These new guidelines update previous recommendations regarding all those metabolic disorders involved in CVR. Hormone changes and their management and the impact of metabolic disorders on the liver are also included. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  4. Vitamin A Derivatives as Treatment Options for Retinal Degenerative Diseases

    Directory of Open Access Journals (Sweden)

    Tadao Maeda

    2013-07-01

    Full Text Available The visual cycle is a sequential enzymatic reaction for vitamin A, all-trans-retinol, occurring in the outer layer of the human retina and is essential for the maintenance of vision. The central source of retinol is derived from dietary intake of both retinol and pro-vitamin A carotenoids. A series of enzymatic reactions, located in both the photoreceptor outer segment and the retinal pigment epithelium, transform retinol into the visual chromophore 11-cis-retinal, regenerating visual pigments. Retina specific proteins carry out the majority of the visual cycle, and any significant interruption in this sequence of reactions is capable of causing varying degrees of blindness. Among these important proteins are Lecithin:retinol acyltransferase (LRAT and retinal pigment epithelium-specific 65-kDa protein (RPE65 known to be responsible for esterification of retinol to all-trans-retinyl esters and isomerization of these esters to 11-cis-retinal, respectively. Deleterious mutations in these genes are identified in human retinal diseases that cause blindness, such as Leber congenital amaurosis (LCA and retinitis pigmentosa (RP. Herein, we discuss the pathology of 11-cis-retinal deficiency caused by these mutations in both animal disease models and human patients. We also review novel therapeutic strategies employing artificial visual chromophore 9-cis-retinoids which have been employed in clinical trials involving LCA patients.

  5. Qualitative and quantitative evaluation of skeletal muscle fatty degenerative changes using whole-body Dixon nuclear magnetic resonance imaging for an important reduction of the acquisition time.

    Science.gov (United States)

    Baudin, Pierre-Yves; Marty, Benjamin; Robert, Benjamin; Shukelovitch, Alexey; Carlier, Robert Y; Azzabou, Noura; Carlier, Pierre G

    2015-10-01

    In recent years, MRI has proven its usefulness for the diagnostic workup of patients with musculo-skeletal diseases, and also shown great promise as a non-invasive, quantitative outcome measure in clinical studies. The characterization of patterns of fatty degenerative lesions, which now plays an important part in the diagnosis of some diseases, is typically performed by the radiologist on routine T1-weighted images. We propose to rationalize acquisitions and reduce patients' time in the scanner by allowing radiologists to perform the qualitative grading of the muscles on images derived from fat/water acquisitions. These maps are color-coded, where the different colors correspond to classes of fatty infiltration degree. This allows a quick visual assessment of the muscles, equivalent to the standard method. Using the weighted Kappa agreement test, the agreement between the proposed method and the traditional one, as well as the reproducibility of the results with two raters, was measured on twenty patients suffering from various neuromuscular pathologies. The presented comparisons show that the use of color coded fat fraction maps is statistically equivalent to using the traditional T1-weighted images when performing visual assessment of degenerative lesions with fatty infiltrations in patients with neuromuscular disorders. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Neurochemical imaging of Alzheimer's disease and other degenerative dementias

    International Nuclear Information System (INIS)

    Frey, K.A.; Minoshima, S.; Kuhl, D.E.

    1998-01-01

    A wide variety of neurochemical and functional imaging approaches have been applied to the study of progressive dementias, particularly Alzheimer's disease (Ad) and related disorders. Despite considerable progress in the past decade, the cause((s) of most cases of Ad remain undetermined and preventive or protective therapies are lacking. Specifically-designed imaging procedures have permitted the testing of pathophysiological hypotheses of the etiology and progression of Ad, and have yielded important insights in several areas including the potential roles of cerebral cortical cholinergic lesions, cellular inflammation, and losses of cortical synapses. From the perspective of clinical diagnosis, PET glucose metabolism imaging with use of ( 18 F)2-fluorodeoxyglucose (FDG) is the most sensitive and specific imaging modality yet identified. The overall performance of PET FDG is favorable for routine clinical evaluation of suspected Ad, and will likely gain increasing utilization in the near future. Assessments of glucose metabolism and other, specific aspects of neurochemistry in Ad will provide direct measures of therapeutic drug actions and may permit distinction of symptomatic versus disease-modifying therapies as they are developed and introduced in clinical trials

  7. Yeast as a model for the identification of novel survival-promoting compounds applicable to treat degenerative diseases.

    Science.gov (United States)

    Verbandt, Sara; Cammue, Bruno P A; Thevissen, Karin

    2017-01-01

    Programmed cell death (PCD) plays an important role in development and normal metabolic functioning of organisms. Excessive cell death is the cause of many degenerative diseases, like neurodegenerative disorders and Wilson's disease, for which current therapies remain insufficient. Current therapies are mainly focused on decreasing the disease symptoms following cell death, rather than blocking the cell death process itself. The latter can be obtained by either decreasing the presence of the toxic trigger (like protein aggregation in case of many commonly known neurodegenerative diseases) or by blocking death-inducing signaling cascade(s). Given the high conservation in PCD processes between yeast and mammalian cells, in this review, we will focus on yeast as a model organism to study PCD-related diseases as well as on its use for drug discovery purposes. More specifically, we will provide a comprehensive overview of new compounds, which were identified in yeast-based drug screens, that either decrease the amount of toxic trigger or inhibit PCD signaling cascades under PCD-inducing conditions. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. Degenerative dementia: nosological aspects and results of single photon emission computed tomography; Les demences degeneratives: aspects nosologiques et resultats de la tomographie d'emission monophotonique

    Energy Technology Data Exchange (ETDEWEB)

    Dubois, B.; Habert, M.O. [Hopital Pitie-Salpetriere, 75 - Paris (France)

    1999-12-01

    Ten years ago, the diagnosis discussion of a dementia case for the old patient was limited to two pathologies: the Alzheimer illness and the Pick illness. During these last years, the frame of these primary degenerative dementia has fallen into pieces. The different diseases and the results got with single photon emission computed tomography are discussed. for example: fronto-temporal dementia, primary progressive aphasia, progressive apraxia, visio-spatial dysfunction, dementia at Lewy's bodies, or cortico-basal degeneration. (N.C.)

  9. Melatonin as a Novel Interventional Candidate for Fragile X Syndrome with Autism Spectrum Disorder in Humans

    Directory of Open Access Journals (Sweden)

    Jinyoung Won

    2017-06-01

    Full Text Available Fragile X syndrome (FXS is the most common monogenic form of autism spectrum disorder (ASD. FXS with ASD results from the loss of fragile X mental retardation (fmr gene products, including fragile X mental retardation protein (FMRP, which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses. Although a wide variety of possible causes, symptoms, and clinical features of ASD have been studied, the correlation between altered circadian rhythms and FXS with ASD has yet to be extensively investigated. Recent studies have highlighted the impact of melatonin on the nervous, immune, and metabolic systems and, even though the utilization of melatonin for sleep dysfunctions in ASD has been considered in clinical research, future studies should investigate its neuroprotective role during the developmental period in individuals with ASD. Thus, the present review focuses on the regulatory circuits involved in the dysregulation of melatonin and disruptions in the circadian system in individuals with FXS with ASD. Additionally, the neuroprotective effects of melatonin intervention therapies, including improvements in neuroplasticity and physical capabilities, are discussed and the molecular mechanisms underlying this disorder are reviewed. The authors suggest that melatonin may be a useful treatment for FXS with ASD in terms of alleviating the adverse effects of variations in the circadian rhythm.

  10. Melatonin as a Novel Interventional Candidate for Fragile X Syndrome with Autism Spectrum Disorder in Humans.

    Science.gov (United States)

    Won, Jinyoung; Jin, Yunho; Choi, Jeonghyun; Park, Sookyoung; Lee, Tae Ho; Lee, Sang-Rae; Chang, Kyu-Tae; Hong, Yonggeun

    2017-06-20

    Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation ( fmr ) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses. Although a wide variety of possible causes, symptoms, and clinical features of ASD have been studied, the correlation between altered circadian rhythms and FXS with ASD has yet to be extensively investigated. Recent studies have highlighted the impact of melatonin on the nervous, immune, and metabolic systems and, even though the utilization of melatonin for sleep dysfunctions in ASD has been considered in clinical research, future studies should investigate its neuroprotective role during the developmental period in individuals with ASD. Thus, the present review focuses on the regulatory circuits involved in the dysregulation of melatonin and disruptions in the circadian system in individuals with FXS with ASD. Additionally, the neuroprotective effects of melatonin intervention therapies, including improvements in neuroplasticity and physical capabilities, are discussed and the molecular mechanisms underlying this disorder are reviewed. The authors suggest that melatonin may be a useful treatment for FXS with ASD in terms of alleviating the adverse effects of variations in the circadian rhythm.

  11. Comparative studies of placentation and immunology in non-human primates suggest a scenario for the evolution of deep trophoblast invasion and an explanation for human pregnancy disorders

    DEFF Research Database (Denmark)

    Carter, Anthony Michael

    2011-01-01

    in the orangutan and became polymorphic in the lineage leading to gorilla, bonobo, chimpanzee, and human. Interaction between HLA-C1 and HLA-C2 on the surface of trophoblast and killer immunoglobulin-like receptors (KIRs) expressed by uterine natural killer cells are important regulators of trophoblast invasion....... Evolution of this system in great apes may have been one prerequisite for deep trophoblast invasion but seems to have come at a price. The evidence now suggests that certain combinations of maternal genotype for KIRs and fetal genotype for HLA-C imply an increased risk of preeclampsia, fetal growth...... restriction, and recurrent abortion. The fetal genotype is in part derived from the father providing an explanation for the paternal contribution to reproductive disorders....

  12. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

    Science.gov (United States)

    Sharp, Andrew J; Hansen, Sierra; Selzer, Rebecca R; Cheng, Ze; Regan, Regina; Hurst, Jane A; Stewart, Helen; Price, Sue M; Blair, Edward; Hennekam, Raoul C; Fitzpatrick, Carrie A; Segraves, Rick; Richmond, Todd A; Guiver, Cheryl; Albertson, Donna G; Pinkel, Daniel; Eis, Peggy S; Schwartz, Stuart; Knight, Samantha J L; Eichler, Evan E

    2006-09-01

    Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in four individuals. Using oligonucleotide arrays, we refined the breakpoints of this microdeletion, defining a 478-kb critical region containing six genes that were deleted in all four individuals. We mapped the breakpoints of this deletion and of four other pathogenic rearrangements in 1q21.1, 15q13, 15q24 and 17q12 to flanking segmental duplications, suggesting that these are also sites of recurrent rearrangement. In common with the 17q21.31 deletion, these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.

  13. A rat model of post-traumatic stress disorder reproduces the hippocampal deficits seen in the human syndrome

    Directory of Open Access Journals (Sweden)

    Sonal eGoswami

    2012-06-01

    Full Text Available Despite recent progress, the causes and pathophysiology of post-traumatic stress disorder (PTSD remain poorly understood, partly because of ethical limitations inherent to human studies. One approach to circumvent this obstacle is to study PTSD in a valid animal model of the human syndrome. In one such model, extreme and long-lasting behavioral manifestations of anxiety develop in a subset of Lewis rats after exposure to an intense predatory threat that mimics the type of life-and-death situation known to precipitate PTSD in humans. This study aimed to assess whether the hippocampus-associated deficits observed in the human syndrome are reproduced in this rodent model. Prior to predatory threat, different groups of rats were each tested on one of three object recognition memory tasks that varied in the types of contextual clues (i.e. that require the hippocampus or not the rats could use to identify novel items. After task completion, the rats were subjected to predatory threat and, one week later, tested on the elevated plus maze. Based on their exploratory behavior in the plus maze, rats were then classified as resilient or PTSD-like and their performance on the pre-threat object recognition tasks compared. The performance of PTSD-like rats was inferior to that of resilient rats but only when subjects relied on an allocentric frame of reference to identify novel items, a process thought to be critically dependent on the hippocampus. Therefore, these results suggest that even prior to trauma, PTSD-like rats show a deficit in hippocampal-dependent functions, as reported in twin studies of human PTSD.

  14. A rat model of post-traumatic stress disorder reproduces the hippocampal deficits seen in the human syndrome.

    Science.gov (United States)

    Goswami, Sonal; Samuel, Sherin; Sierra, Olga R; Cascardi, Michele; Paré, Denis

    2012-01-01

    Despite recent progress, the causes and pathophysiology of post-traumatic stress disorder (PTSD) remain poorly understood, partly because of ethical limitations inherent to human studies. One approach to circumvent this obstacle is to study PTSD in a valid animal model of the human syndrome. In one such model, extreme and long-lasting behavioral manifestations of anxiety develop in a subset of Lewis rats after exposure to an intense predatory threat that mimics the type of life-and-death situation known to precipitate PTSD in humans. This study aimed to assess whether the hippocampus-associated deficits observed in the human syndrome are reproduced in this rodent model. Prior to predatory threat, different groups of rats were each tested on one of three object recognition memory tasks that varied in the types of contextual clues (i.e., that require the hippocampus or not) the rats could use to identify novel items. After task completion, the rats were subjected to predatory threat and, one week later, tested on the elevated plus maze (EPM). Based on their exploratory behavior in the plus maze, rats were then classified as resilient or PTSD-like and their performance on the pre-threat object recognition tasks compared. The performance of PTSD-like rats was inferior to that of resilient rats but only when subjects relied on an allocentric frame of reference to identify novel items, a process thought to be critically dependent on the hippocampus. Therefore, these results suggest that even prior to trauma PTSD-like rats show a deficit in hippocampal-dependent functions, as reported in twin studies of human PTSD.

  15. Evaluation of validity and reliability of a methodology for measuring human postural attitude and its relation to temporomandibular joint disorders

    Science.gov (United States)

    Fernández, Ramón Fuentes; Carter, Pablo; Muñoz, Sergio; Silva, Héctor; Venegas, Gonzalo Hernán Oporto; Cantin, Mario; Ottone, Nicolás Ernesto

    2016-01-01

    INTRODUCTION Temporomandibular joint disorders (TMJDs) are caused by several factors such as anatomical, neuromuscular and psychological alterations. A relationship has been established between TMJDs and postural alterations, a type of anatomical alteration. An anterior position of the head requires hyperactivity of the posterior neck region and shoulder muscles to prevent the head from falling forward. This compensatory muscular function may cause fatigue, discomfort and trigger point activation. To our knowledge, a method for assessing human postural attitude in more than one plane has not been reported. Thus, the aim of this study was to design a methodology to measure the external human postural attitude in frontal and sagittal planes, with proper validity and reliability analyses. METHODS The variable postures of 78 subjects (36 men, 42 women; age 18–24 years) were evaluated. The postural attitudes of the subjects were measured in the frontal and sagittal planes, using an acromiopelvimeter, grid panel and Fox plane. RESULTS The method we designed for measuring postural attitudes had adequate reliability and validity, both qualitatively and quantitatively, based on Cohen’s Kappa coefficient (> 0.87) and Pearson’s correlation coefficient (r = 0.824, > 80%). CONCLUSION This method exhibits adequate metrical properties and can therefore be used in further research on the association of human body posture with skeletal types and TMJDs. PMID:26768173

  16. Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.

    Science.gov (United States)

    Li, Jin; Jørgensen, Silje F; Maggadottir, S Melkorka; Bakay, Marina; Warnatz, Klaus; Glessner, Joseph; Pandey, Rahul; Salzer, Ulrich; Schmidt, Reinhold E; Perez, Elena; Resnick, Elena; Goldacker, Sigune; Buchta, Mary; Witte, Torsten; Padyukov, Leonid; Videm, Vibeke; Folseraas, Trine; Atschekzei, Faranaz; Elder, James T; Nair, Rajan P; Winkelmann, Juliane; Gieger, Christian; Nöthen, Markus M; Büning, Carsten; Brand, Stephan; Sullivan, Kathleen E; Orange, Jordan S; Fevang, Børre; Schreiber, Stefan; Lieb, Wolfgang; Aukrust, Pål; Chapel, Helen; Cunningham-Rundles, Charlotte; Franke, Andre; Karlsen, Tom H; Grimbacher, Bodo; Hakonarson, Hakon; Hammarström, Lennart; Ellinghaus, Eva

    2015-04-20

    Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have considerable autoimmune comorbidity and we therefore hypothesized that genetic susceptibility to CVID may overlap with autoimmune disorders. Here, in the largest genetic study performed in CVID to date, we compare 778 CVID cases with 10,999 controls across 123,127 single-nucleotide polymorphisms (SNPs) on the Immunochip. We identify the first non-HLA genome-wide significant risk locus at CLEC16A (rs17806056, P=2.0 × 10(-9)) and confirm the previously reported human leukocyte antigen (HLA) associations on chromosome 6p21 (rs1049225, P=4.8 × 10(-16)). Clec16a knockdown (KD) mice showed reduced number of B cells and elevated IgM levels compared with controls, suggesting that CLEC16A may be involved in immune regulatory pathways of relevance to CVID. In conclusion, the CLEC16A associations in CVID represent the first robust evidence of non-HLA associations in this immunodeficiency condition.

  17. Bioinformatics analysis identifies several intrinsically disordered human E3 ubiquitin-protein ligases

    DEFF Research Database (Denmark)

    Boomsma, Wouter Krogh; Nielsen, Sofie Vincents; Lindorff-Larsen, Kresten

    2016-01-01

    conduct a bioinformatics analysis to examine >600 human and S. cerevisiae E3 ligases to identify enzymes that are similar to San1 in terms of function and/or mechanism of substrate recognition. An initial sequence-based database search was found to detect candidates primarily based on the homology...

  18. Androgen imprinting of the brain in animal models and humans with intersex disorders: review and recommendations.

    Science.gov (United States)

    Hrabovszky, Zoltan; Hutson, John M

    2002-11-01

    Psychosexual development, gender assignment and surgical treatment in patients with intersex are controversial issues in the medical literature. Some groups are of the opinion that gender identity and sexual orientation are determined prenatally secondary to the fetal hormonal environment causing irreversible development of the nervous system. We reviewed the evidence in animal and human studies to determine the possible role of early postnatal androgen production in gender development. An extensive literature review was performed of data from animal experiments and human studies. RESULTS Many animal studies show that adding or removing hormonal stimulus in early postnatal life can profoundly alter gender behavior of the adult animal. Human case studies show that late intervention is unable to reverse gender orientation from male to female. Most studies have not permitted testing of whether early gender assignment and treatment as female with suppression/ablation of postnatal androgen production leads to improved concordance of the gender identity and sex of rearing. Animal studies support a role for postnatal androgens in brain/behavior development with human studies neither completely supportive nor antagonistic. Therefore, gender assignment in infants with intersex should be made with the possibility in mind that postnatal testicular hormones at ages 1 to 6 months may affect gender identity. A case-control study is required to test the hypothesis that postnatal androgen exposure may convert ambisexual brain functions to committed male behavior patterns.

  19. Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans

    NARCIS (Netherlands)

    Wanders, Ronald J. A.; Komen, Jasper; Kemp, Stephan

    2011-01-01

    Fatty acids (FAs) can be degraded via different mechanisms including alpha-, beta- and omega-oxidation. In humans, a range of different genetic diseases has been identified in which either mitochondrial FA beta-oxidation, peroxisomal FA beta-oxidation or FA alpha-oxidation is impaired. Treatment

  20. Role of human papillomavirus in oral squamous cell carcinoma and oral potentially malignant disorders: A review of the literature

    Science.gov (United States)

    Gupta, Shikha; Gupta, Sunita

    2015-01-01

    Human papillomaviruses (HPVs) are epitheliotropic viruses with an affinity for keratinocytes and are principally found in the anogenital tract, urethra, skin, larynx, tracheobronchial and oral mucosa. On the basis of high, but variable frequency of HPV in oral squamous cell carcinoma (OSCC), malignant potential of HPV infection has been hypothesized but not definitely confirmed. The aim of this review was to highlight the genomic structure and possible mechanism of infection and carcinogenesis by HPV in the oral mucosa and to review the frequency of HPV prevalence in OSCC and oral potentially malignant disorders. A computer database search was performed through the use of PubMed from 1994 to 2014. Search keywords used were: HPV and oral cancer, HPV and oral leukoplakia, HPV and oral lichen planus, HPV and OSCC, HPV and verrucous carcinoma, HPV and proliferative verrucous leukoplakia, HPV and oral papilloma. PMID:26097339

  1. Sexual differentiation of the human brain: relation to gender identity, sexual orientation and neuropsychiatric disorders.

    Science.gov (United States)

    Bao, Ai-Min; Swaab, Dick F

    2011-04-01

    During the intrauterine period a testosterone surge masculinizes the fetal brain, whereas the absence of such a surge results in a feminine brain. As sexual differentiation of the brain takes place at a much later stage in development than sexual differentiation of the genitals, these two processes can be influenced independently of each other. Sex differences in cognition, gender identity (an individual's perception of their own sexual identity), sexual orientation (heterosexuality, homosexuality or bisexuality), and the risks of developing neuropsychiatric disorders are programmed into our brain during early development. There is no evidence that one's postnatal social environment plays a crucial role in gender identity or sexual orientation. We discuss the relationships between structural and functional sex differences of various brain areas and the way they change along with any changes in the supply of sex hormones on the one hand and sex differences in behavior in health and disease on the other. Copyright © 2011 Elsevier Inc. All rights reserved.

  2. Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies.

    Science.gov (United States)

    Wajner, Moacir; Amaral, Alexandre Umpierrez

    2015-11-20

    Mitochondrial fatty acid oxidation (FAO) plays a pivotal role in maintaining body energy homoeostasis mainly during catabolic states. Oxidation of fatty acids requires approximately 25 proteins. Inherited defects of FAO have been identified in the majority of these proteins and constitute an important group of inborn errors of metabolism. Affected patients usually present with severe hepatopathy, cardiomyopathy and skeletal myopathy, whereas some patients may suffer acute and/or progressive encephalopathy whose pathogenesis is poorly known. In recent years growing evidence has emerged indicating that energy deficiency/disruption of mitochondrial homoeostasis is involved in the pathophysiology of some fatty acid oxidation defects (FAOD), although the exact underlying mechanisms are not yet established. Characteristic fatty acids and carnitine derivatives are found at high concentrations in these patients and more markedly during episodes of metabolic decompensation that are associated with worsening of clinical symptoms. Therefore, it is conceivable that these compounds may be toxic. We will briefly summarize the current knowledge obtained from patients and genetic mouse models with these disorders indicating that disruption of mitochondrial energy, redox and calcium homoeostasis is involved in the pathophysiology of the tissue damage in the more common FAOD, including medium-chain acyl-CoA dehydrogenase (MCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencies. We will also provide evidence that the fatty acids and derivatives that accumulate in these diseases disrupt mitochondrial homoeostasis. The elucidation of the toxic mechanisms of these compounds may offer new perspectives for potential novel adjuvant therapeutic strategies in selected disorders of this group. © 2016 Authors.

  3. Relevance of Conduction Disorders in Bachmann's Bundle During Sinus Rhythm in Humans.

    Science.gov (United States)

    Teuwen, Christophe P; Yaksh, Ameeta; Lanters, Eva A H; Kik, Charles; van der Does, Lisette J M E; Knops, Paul; Taverne, Yannick J H J; van de Woestijne, Pieter C; Oei, Frans B S; Bekkers, Jos A; Bogers, Ad J J C; Allessie, Maurits A; de Groot, Natasja M S

    2016-05-01

    Bachmann's bundle (BB) is considered to be the main route of interatrial conduction and to play a role in development of atrial fibrillation (AF). The goals of this study are to characterize the presence of conduction disorders in BB during sinus rhythm and to study their relation with AF. High-resolution epicardial mapping (192 unipolar electrodes, interelectrode distance: 2 mm) of sinus rhythm was performed in 185 patients during coronary artery bypass surgery of whom 13 had a history of paroxysmal AF. Continuous rhythm monitoring was used to detect postoperative AF during the first 5 postoperative days. In 67% of the patients, BB was activated from right to left; in the remaining patients from right and middle (21%), right, central, and left (8%), or central (4%) site. Mean effective conduction velocity was 89 cm/s. Conduction block was present in most patients (75%; median 1.1%, range 0-12.8) and was higher in patients with paroxysmal AF compared with patients without a history of AF (3.2% versus 0.9%; P=0.03). A high amount of conduction block (>4%) was associated with de novo postoperative AF (P=0.02). Longitudinal lines of conduction block >10 mm were also associated with postoperative AF (P=0.04). BB may be activated through multiple directions, but the predominant route of conduction is from right to left. Conduction velocity across BB is around 90 cm/s. Conduction is blocked in both longitudinal and transverse direction in the majority of patients. Conduction disorders, particularly long lines of longitudinal conduction block, are more pronounced in patients with AF episodes. © 2016 American Heart Association, Inc.

  4. High-intensity laser therapy during chronic degenerative tenosynovitis experimentally induced in broiler chickens

    Science.gov (United States)

    Fortuna, Damiano; Rossi, Giacomo; Bilotta, Teresa W.; Zati, Allesandro; Gazzotti, Valeria; Venturini, Antonio; Pinna, Stefania; Serra, Christian; Masotti, Leonardo

    2002-10-01

    The aims of this study was the safety and the efficacy of High Intensity Laser Therapy (HILT) on chronic degenerative tenosynovitis. We have effectuated the histological evaluation and seroassay (C reactive protein) on 18 chickens affect by chronic degenerative tenosynovitis experimentally induced. We have been employed a Nd:YAG laser pulsed wave; all irradiated subjects received the same total energy (270 Joule) with a fluence of 7,7 J/cm2 and intensity of 10,7 W/cm2. The histological findings revealed a distinct reduction of the mineralization of the choral matrix, the anti-inflammatory effect of the laser, the hyperplasia of the synoviocytes and ectasia of the lymphatic vessels.

  5. Modern approaches to diagnostics of combined degenerative hip and spine pathology

    Directory of Open Access Journals (Sweden)

    V. V. Khominets

    2014-01-01

    Full Text Available The results of standard radiographs of 90 patients with hip-spine syndrome associated with one unilateral or bilateral III stage hip osteoarthhrosis were analyzed with the aim to improve the diagnostics of pathological changes in the "hip joint-pelvis- spine" complex. 12 parameters of sagittal spinal-pelvic balance and 3 parameters of frontal one were studied and the degenerative changes in spinal motional segments were evaluated. The statistical processing of obtained data was made. It was stated that the most frequent variant of sagittal spinal-pelvic profile is hyperlordosic one, followed by formation of degenerative changes especially in dorsal regions of spine (р=0,076.The strategy of patient examination with hip-spine syndrome was established from clinical and radiographic positions.

  6. The relationship between the cerebral blood flow, oxygen consumption and glucose metabolism in primary degenerative dementia

    International Nuclear Information System (INIS)

    Kuwabara, Yasuo; Ichiya, Yuichi; Ichimiya, Atsushi; Sasaki, Masayuki; Akashi, Yuko; Yoshida, Tsuyoshi; Fukumura, Toshimitsu; Masada, Kouji

    1995-01-01

    The CBF, CMRO 2 and CMRGlu were measured in patients with primary degenerative dementia including 5 patients with dementia of Alzheimer's type and 4 patients with Pick's disease, and then the correlation between the cerebral blood flow and energy metabolism was evaluated. The control subjects consisted of 5 age-matched normal volunteers. The CBF, CMRO 2 and CMRGlu decreased in the bilateral frontal, temporal and parietal regions in the patients with Alzheimer's dementia, while they decreased in the bilateral frontal and temporal regions in the patients with Pick's disease. Both the CBF and CMRO 2 were closely correlated with each other. However, the CMRGlu was more severely impaired than the CBF or CMRO 2 in both pathological conditions. These results suggested that CMRGlu began to decrease before the reduction of the aerobic metabolism and thus measuring the CMRGlu is considered to be the most sensitive method for detecting abnormal regions in primary degenerative dementia. (author)

  7. Acute pyogenic discitis in a degenerative intervertebral disc in an adult

    Directory of Open Access Journals (Sweden)

    Masamitsu Tanaka

    2010-08-01

    Full Text Available Masamitsu Tanaka1,2, Hiroshi Shimizu2, Yoshiyuki Yato1, Takashi Asazuma1, Koichi Nemoto11Department of Orthopedic Surgery, National Defense Medical College, Tokorozawa, Saitama; 2Department of Orthopedic Surgery, Self Defense Force Fukuoka Hospital, Kasuga, Fukuoka, JapanAbstract: A 35-year-old male who had been receiving conservative treatment for L4 isthmic spondylolisthesis suffered from pyogenic spondylodiscitis in the degenerative L4/L5 intervertebral disc space, which could be identified by comparison with previous images. Symptoms improved with conservative antibiotic treatment. Neovascularization may occur in the annulus fibrosus of a degenerative intervertebral disc, which may increase the risk of hematogenous infection, leading to “discitis” even in adults.Keywords: spondylodiscitis, spondylitis, discitis, isthmic spondylolisthesis, spondylolysis, intervertebral disc degeneration

  8. Polyetheretherketone (PEEK) rods: short-term results in lumbar spine degenerative disease.

    Science.gov (United States)

    Colangeli, S; Barbanti Brodàno, G; Gasbarrini, A; Bandiera, S; Mesfin, A; Griffoni, C; Boriani, S

    2015-06-01

    Pedicle screw and rod instrumentation has become the preferred technique for performing stabilization and fusion in the surgical treatment of lumbar spine degenerative disease. Rigid fixation leads to high fusion rates but may also contribute to stress shielding and adjacent segment degeneration. Thus, the use of semirigid rods made of polyetheretherketone (PEEK) has been proposed. Although the PEEK rods biomechanical properties, such as anterior load sharing properties, have been shown, there are few clinical studies evaluating their application in the lumbar spine surgical treatment. This study examined a retrospective cohort of patients who underwent posterior lumbar fusion for degenerative disease using PEEK rods, in order to evaluate the clinical and radiological outcomes and the incidence of complications.

  9. Age-related carbonylation of fibrocartilage structural proteins drives tissue degenerative modification.

    Science.gov (United States)

    Scharf, Brian; Clement, Cristina C; Yodmuang, Supansa; Urbanska, Aleksandra M; Suadicani, Sylvia O; Aphkhazava, David; Thi, Mia M; Perino, Giorgio; Hardin, John A; Cobelli, Neil; Vunjak-Novakovic, Gordana; Santambrogio, Laura

    2013-07-25

    Aging-related oxidative stress has been linked to degenerative modifications in different organs and tissues. Using redox proteomic analysis and illustrative tandem mass spectrometry mapping, we demonstrate oxidative posttranslational modifications in structural proteins of intervertebral discs (IVDs) isolated from aging mice. Increased protein carbonylation was associated with protein fragmentation and aggregation. Complementing these findings, a significant loss of elasticity and increased stiffness was measured in fibrocartilage from aging mice. Studies using circular dichroism and intrinsic tryptophan fluorescence revealed a significant loss of secondary and tertiary structures of purified collagens following oxidation. Collagen unfolding and oxidation promoted both nonenzymatic and enzymatic degradation. Importantly, induction of oxidative modification in healthy fibrocartilage recapitulated the biochemical and biophysical modifications observed in the aging IVD. Together, these results suggest that protein carbonylation, glycation, and lipoxidation could be early events in promoting IVD degenerative changes. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. Degenerative processes in bioprosthetic mitral valves in juvenile pigs

    Directory of Open Access Journals (Sweden)

    Pedersen Torben B

    2011-05-01

    Full Text Available Abstract Background Glutaraldehyde-treated bioprosthetic heart valves are commonly used for replacement of diseased heart valves. However, calcification and wear limit their durability, and the development of new and improved bioprosthetic valve designs is needed and must be evaluated in a reliable animal model. We studied glutaraldehyde-treated valves 6 months after implantation to evaluate bioprosthetic valve complications in the mitral position in juvenile pigs. Materials The study material comprised eight, 5-month old, 60-kg pigs. All pigs received a size 27, glutaraldehyde-treated, stented, Carpentier-Edwards S.A.V. mitral valve prosthesis. After six months, echocardiography was performed, and the valves explanted for gross examination, high resolution X-ray, and histological evaluation. Results Five pigs survived the follow-up period. Preexplant echocardiography revealed a median peak and mean velocity of 1.61 m/s (range: 1.17-2.00 and 1.20 (SD = ±0.25, respectively, and a median peak and mean pressure difference of 10.42 mmHg (range: 5.83-16.55 and 6.51 mmHg (SD = ±2.57, respectively. Gross examination showed minor thrombotic depositions at two commissures in two valves and at all three commissures in three valves. High resolution X-ray imaging revealed different degrees of calcification in all explanted valves, primarily in the commissural and belly areas. In all valves, histological evaluation demonstrated various degrees of fibrous sheath formation, limited immunological infiltration, and no overgrowth of host endothelium. Conclusions Bioprosthetic glutaraldehyde-treated mitral valves can be implanted into the mitral position in pigs and function after 6 months. Echocardiographic data, calcification, and histological examinations were comparable to results obtained in sheep models and human demonstrating the suitability of the porcine model.

  11. Perspectives of Stem Cell-Based Therapy for Age-Related Retinal Degenerative Diseases

    Czech Academy of Sciences Publication Activity Database

    Holáň, Vladimír; Heřmánková, Barbora; Kössl, Jan

    2017-01-01

    Roč. 26, č. 9 (2017), s. 1538-1541 ISSN 0963-6897 R&D Projects: GA ČR(CZ) GA17-04800S; GA MŠk(CZ) ED1.1.00/02.0109; GA MŠk(CZ) LO1309 Institutional support: RVO:68378041 Keywords : age-related retinal degenerative diseases * mesenchymal stem cells * stem cell therapy Subject RIV: FF - HEENT, Dentistry OBOR OECD: Ophthalmology Impact factor: 3.006, year: 2016

  12. Stem cells in degenerative orthopaedic pathologies: effects of aging on therapeutic potential.

    Science.gov (United States)

    Atesok, Kivanc; Fu, Freddie H; Sekiya, Ichiro; Stolzing, Alexandra; Ochi, Mitsuo; Rodeo, Scott A

    2017-02-01

    The purpose of this study was to summarize the current evidence on the use of stem cells in the elderly population with degenerative orthopaedic pathologies and to highlight the pathophysiologic mechanisms behind today's therapeutic challenges in stem cell-based regeneration of destructed tissues in the elderly patients with osteoarthritis (OA), degenerative disc disease (DDD), and tendinopathies. Clinical and basic science studies that report the use of stem cells in the elderly patients with OA, DDD, and tendinopathies were identified using a PubMed search. The studies published in English have been assessed, and the best and most recent evidence was included in the current study. Evidence suggests that, although short-term results regarding the effects of stem cell therapy in degenerative orthopaedic pathologies can be promising, stem cell therapies do not appear to reverse age-related tissue degeneration. Causes of suboptimal outcomes can be attributed to the decrease in the therapeutic potential of aged stem cell populations and the regenerative capacity of these cells, which might be negatively influenced in an aged microenvironment within the degenerated tissues of elderly patients with OA, DDD, and tendinopathies. Clinical protocols guiding the use of stem cells in the elderly patient population are still under development, and high-level randomized controlled trials with long-term outcomes are lacking. Understanding the consequences of age-related changes in stem cell function and responsiveness of the in vivo microenvironment to stem cells is critical when designing cell-based therapies for elderly patients with degenerative orthopaedic pathologies.

  13. Studies on the pathogenesis of the degenerative lumbar canal stenosis by CT, 3

    International Nuclear Information System (INIS)

    Kido, Kenji

    1988-01-01

    Computed tomography (CT) scans of lumbar canal stenosis (LCS, n = 20), osteoarthritis (OA, n = 65), disk herniation (n = 21), and lumbar pain (n = 23) were reviewed for the quanlitative evaluation of the vertebral canal and stenosis factors. Trefoil type on transverse sections of the bony vertebral canal was observed in 23 %, having no implications for pathologic significance at the L5 level. The degree of degeneration in soft tissues inside the vertebral canal varied according to diseases. This was most noticeable at the L4/L5 level in the LCS group. The morphological CT appearance of vertebral arch were divided into three types: I - the concave inner part, II - the linear inner part, and III - the convex inner part to the vertebral canal. In the group of LCS, the incidences of types II and III were high at the L5/S1 and at the L4/L5 levels, respectively. As for the angle of apophyseal joint, the incidence of sagittal joint was high at the L3/L4 and L4/L5 levels in the group of LCS. The incidence of degenerative changes was high in the groups of LCS and OA, suggesting some relationship between degenerative degree and both sagittal and asymmetric joints. This was noticeable at the L4/L5 level. Calcification surrounding the joint was seen in 13 %, reflecting the relationship to the degenerative changes. There was no relationship between degenerative changes and vacuum joint phenomenon observed in 18 %. As for the area less than 90 mm 2 of the dural canal, there was no morphological change between the LCS and OA groups. In the symptomatic mechanism in the case of LCS, morphological dynamic and unstable factors may be involved. (Namekawa, K.) 67 refs

  14. Differentiation of malignant and degenerative benign bone disease using 99mTc-citrate scintigraphy

    International Nuclear Information System (INIS)

    Guo Rui; Jin Jianhua; Li Sijin; Li Xianfeng; Zhang Xiaojuan; Ren Yuan

    2008-01-01

    Objective: To differentiate malignant and degenerative benign bone disease using 99m Tc- citrate scintigraphy. Methods: Thirty-nine patients (92 lesions) with confirmed malignant bone disease or degenerative benign bone disease were studied, for which the results of 99m Te-methylene diphosphonate( 99m Tc- MDP) scintigraphy were positive. 99m Tc-citrate scintigraphy was performed within a time interval of 2-7 days after 99m Tc-MDP scintigraphy. Visual analysis and semiquantitative analysis were applied. Each lesion was scored as malignant or benign, which was independently verified, using conventional techniques (histopathology, X-ray, CT, MRI and clinical follow up). Results: In visual analysis of 99m Tc-citrate imaging, most malignant lesions (35/48, 72.92%) clearly showed high radioactivity accumulation, while most benign lesions (39/44, 88.64%) had not obviously visible uptake of 99m Tc-citrate. In semiquantitative analysis of 99m Tc- citrate image, malignant lesions demonstrated a higher lesion-to-background radioisotope uptake ratio (RUR) than that of benign degenerative lesions (1.47 ± 0.42 vs. 1.09 ± 0.38, t=2.887, P 99m Tc-MDP in the two groups is of the same (1.96 ± 0.25 vs. 1.87 ± 0.21, t=1.178, P>0.20). Conclusion: 99m Tc- citrate scintigraphy is a promising method to differentiate malignant from benign degenerative lesions seen as areas of increased activity on 99m Tc-MDP bone scintigraphy. (authors)

  15. Disparities in Rates of Spine Surgery for Degenerative Spine Disease Between HIV Infected and Uninfected Veterans

    Science.gov (United States)

    King, Joseph T.; Gordon, Adam J.; Perkal, Melissa F.; Crystal, Stephen; Rosenthal, Ronnie A.; Rodriguez-Barradas, Maria C.; Butt, Adeel A.; Gibert, Cynthia L.; Rimland, David; Simberkoff, Michael S.; Justice, Amy C.

    2011-01-01

    Study Design Retrospective analysis of nationwide Veterans Health Administration (VA) clinical and administrative data. Objective Examine the association between HIV infection and the rate of spine surgery for degenerative spine disease. Summary of Background Data Combination anti-retroviral therapy (cART) has prolonged survival in patients with HIV/AIDS, increasing the prevalence of chronic conditions such as degenerative spine disease that may require spine surgery. Methods We studied all HIV infected patients under care in the VA from 1996–2008 (n=40,038) and uninfected comparator patients (n=79,039) matched on age, gender, race, year, and geographic region. The primary outcome was spine surgery for degenerative spine disease defined by ICD-9 procedure and diagnosis codes. We used a multivariate Poisson regression to model spine surgery rates by HIV infection status, adjusting for factors that might affect suitability for surgery (demographics, year, comorbidities, body mass index, cART, and laboratory values). Results Two-hundred twenty eight HIV infected and 784 uninfected patients underwent spine surgery for degenerative spine disease during 700,731 patient-years of follow-up (1.44 surgeries per 1,000 patient-years). The most common procedures were spinal decompression (50%), and decompression and fusion (33%); the most common surgical sites were the lumbosacral (50%), and cervical (40%) spine. Adjusted rates of surgery were lower for HIV infected patients (0.86 per 1,000 patient-years of follow-up) than for uninfected patients (1.41 per 1,000 patient-years; IRR 0.61, 95% CI: 0.51, 0.74, Pdegenerative spine disease. Possible explanations include disease prevalence, emphasis on treatment of non-spine HIV-related symptoms, surgical referral patterns, impact of HIV on surgery risk-benefit ratio, patient preferences, and surgeon bias. PMID:21697770

  16. MRI of degenerative lumbar spine disease: comparison of non-accelerated and parallel imaging

    International Nuclear Information System (INIS)

    Noelte, Ingo; Gerigk, Lars; Brockmann, Marc A.; Kemmling, Andre; Groden, Christoph

    2008-01-01

    Parallel imaging techniques such as GRAPPA have been introduced to optimize image quality and acquisition time. For spinal imaging in a clinical setting no data exist on the equivalency of conventional and parallel imaging techniques. The purpose of this study was to determine whether T1- and T2-weighted GRAPPA sequences are equivalent to conventional sequences for the evaluation of degenerative lumbar spine disease in terms of image quality and artefacts. In patients with clinically suspected degenerative lumbar spine disease two neuroradiologists independently compared sagittal GRAPPA (acceleration factor 2, time reduction approximately 50%) and non-GRAPPA images (25 patients) and transverse GRAPPA (acceleration factor 2, time reduction approximately 50%) and non-GRAPPA images (23 lumbar segments in six patients). Comparative analyses included the minimal diameter of the spinal canal, disc abnormalities, foraminal stenosis, facet joint degeneration, lateral recess, nerve root compression and osteochondrotic vertebral and endplate changes. Image inhomogeneity was evaluated by comparing the nonuniformity in the two techniques. Image quality was assessed by grading the delineation of pathoanatomical structures. Motion and aliasing artefacts were classified from grade 1 (severe) to grade 5 (absent). There was no significant difference between GRAPPA and non-accelerated MRI in the evaluation of degenerative lumbar spine disease (P > 0.05), and there was no difference in the delineation of pathoanatomical structures. For inhomogeneity there was a trend in favour of the conventional sequences. No significant artefacts were observed with either technique. The GRAPPA technique can be used effectively to reduce scanning time in patients with degenerative lumbar spine disease while preserving image quality. (orig.)

  17. Impact of body mass index on adjacent segment disease after lumbar fusion for degenerative spine disease.

    Science.gov (United States)

    Ou, Chien-Yu; Lee, Tao-Chen; Lee, Tsung-Han; Huang, Yu-Hua

    2015-04-01

    Adjacent segment disease is an important complication after fusion of degenerative lumbar spines. However, the role of body mass index (BMI) in adjacent segment disease has been addressed less. To examine the relationship between BMI and adjacent segment disease after lumbar fusion for degenerative spine diseases. For this retrospective study, we enrolled 190 patients undergoing lumbar fusion surgery for degeneration. BMI at admission was documented. Adjacent segment disease was defined by integration of the clinical presentations and radiographic criteria based on the morphology of the dural sac on magnetic resonance images. Adjacent segment disease was identified in 13 of the 190 patients, accounting for 6.8%. The interval between surgery and diagnosis as adjacent segment disease ranged from 21 to 66 months. Five of the 13 patients required subsequent surgical intervention for clinically relevant adjacent segment disease. In the logistic regression model, BMI was a risk factor for adjacent segment disease after lumbar fusion for degenerative spine diseases (odds ratio, 1.68; 95% confidence interval, 1.27-2.21; P disease rate by 67.6%. The patients were subdivided into 2 groups based on BMI, and up to 11.9% of patients with BMI ≥ 25 kg/m were diagnosed as having adjacent segment disease at the last follow-up. BMI is a risk factor for adjacent segment disease in patients undergoing lumbar fusion for degenerative spine diseases. Because BMI is clinically objective and modifiable, controlling body weight before or after surgery may provide opportunities to reduce the rate of adjacent segment disease and to improve the outcome of fusion surgery.

  18. Short term outcome of posterior dynamic stabilization system in degenerative lumbar diseases.

    Science.gov (United States)

    Yang, Mingyuan; Li, Chao; Chen, Ziqiang; Bai, Yushu; Li, Ming

    2014-11-01

    Decompression and fusion is considered as the 'gold standard' for the treatment of degenerative lumbar diseases, however, many disadvantages have been reported in several studies, recently like donor site pain, pseudoarthrosis, nonunion, screw loosening, instrumentation failure, infection, adjacent segment disease (ASDis) and degeneration. Dynamic neutralization system (Dynesys) avoids many of these disadvantages. This system is made up of pedicle screws, polyethylene terephthalate cords, and polycarbonate urethane spacers to stabilize the functional spinal unit and preserve the adjacent motion after surgeries. This was a retrospective cohort study to compare the effect of Dynesys for treating degenerative lumbar diseases with posterior lumbar interbody fusion (PLIF) based on short term followup. Seventy five consecutive patients of lumbar degenerative disease operated between October 2010 and November 2012 were studied with a minimum followup of 2 years. Patients were divided into two groups according to the different surgeries. 30 patients underwent decompression and implantation of Dynesys in two levels (n = 29) or three levels (n = 1) and 45 patients underwent PLIF in two levels (n = 39) or three levels (n = 6). Clinical and radiographic outcomes between two groups were reviewed. Thirty patients (male:17, female:13) with a mean age of 55.96 ± 7.68 years were included in Dynesys group and the PLIF group included 45 patients (male:21, female:24) with a mean age of 54.69 ± 3.26 years. The average followup in Dynesys group and PLIF group was 2.22 ± 0.43 year (range 2-3.5 year) and 2.17 ± 0.76 year (range 2-3 year), respectively. Dynesys group showed a shorter operation time (141.06 ± 11.36 min vs. 176.98 ± 6.72 min, P degenerative disease showed clinical benefits with motion preservation of the operated segments, but does not have the significant advantage on motion preservation at adjacent segments, to avoid the degeneration of adjacent intervertebral disk.

  19. Indications for spine surgery: validation of an administrative coding algorithm to classify degenerative diagnoses

    Science.gov (United States)

    Lurie, Jon D.; Tosteson, Anna N.A.; Deyo, Richard A.; Tosteson, Tor; Weinstein, James; Mirza, Sohail K.

    2014-01-01

    Study Design Retrospective analysis of Medicare claims linked to a multi-center clinical trial. Objective The Spine Patient Outcomes Research Trial (SPORT) provided a unique opportunity to examine the validity of a claims-based algorithm for grouping patients by surgical indication. SPORT enrolled patients for lumbar disc herniation, spinal stenosis, and degenerative spondylolisthesis. We compared the surgical indication derived from Medicare claims to that provided by SPORT surgeons, the “gold standard”. Summary of Background Data Administrative data are frequently used to report procedure rates, surgical safety outcomes, and costs in the management of spinal surgery. However, the accuracy of using diagnosis codes to classify patients by surgical indication has not been examined. Methods Medicare claims were link to beneficiaries enrolled in SPORT. The sensitivity and specificity of three claims-based approaches to group patients based on surgical indications were examined: 1) using the first listed diagnosis; 2) using all diagnoses independently; and 3) using a diagnosis hierarchy based on the support for fusion surgery. Results Medicare claims were obtained from 376 SPORT participants, including 21 with disc herniation, 183 with spinal stenosis, and 172 with degenerative spondylolisthesis. The hierarchical coding algorithm was the most accurate approach for classifying patients by surgical indication, with sensitivities of 76.2%, 88.1%, and 84.3% for disc herniation, spinal stenosis, and degenerative spondylolisthesis cohorts, respectively. The specificity was 98.3% for disc herniation, 83.2% for spinal stenosis, and 90.7% for degenerative spondylolisthesis. Misclassifications were primarily due to codes attributing more complex pathology to the case. Conclusion Standardized approaches for using claims data to accurately group patients by surgical indications has widespread interest. We found that a hierarchical coding approach correctly classified over 90

  20. Degenerative dementia: nosological aspects and results of single photon emission computed tomography

    International Nuclear Information System (INIS)

    Dubois, B.; Habert, M.O.

    1999-01-01

    Ten years ago, the diagnosis discussion of a dementia case for the old patient was limited to two pathologies: the Alzheimer illness and the Pick illness. During these last years, the frame of these primary degenerative dementia has fallen into pieces. The different diseases and the results got with single photon emission computed tomography are discussed. for example: fronto-temporal dementia, primary progressive aphasia, progressive apraxia, visio-spatial dysfunction, dementia at Lewy's bodies, or cortico-basal degeneration. (N.C.)

  1. evaluation of a new method for the treatment of degenerative disc disease

    OpenAIRE

    Leidenberger, Tilman Albert Ulrich

    2015-01-01

    Introduction – Purpose: Evaluation of a new treatment option and applicator-system for MR-guided Percutaneous Intradiscal Thermotherapy (MRgPIT), a combinative method of Percutaneous Laser Discus Decompression (PLDD) and annuloplasty for the treatment of degenerative disc disease in open MRI. Materials and Methods: We evaluated the application of a MR-compatible thermoablative applicator-system (Invivo Germany GmbH, Schwerin, D) as well as different laser protocols for annuloplasty in an o...

  2. Correlation between degenerative spine disease and bone marrow density: a retrospective investigation

    International Nuclear Information System (INIS)

    Grams, Astrid Ellen; Rehwald, Rafael; Bartsch, Alexander; Honold, Sarah; Freyschlag, Christian Franz; Knoflach, Michael; Gizewski, Elke Ruth; Glodny, Bernhard

    2016-01-01

    Spondylosis leads to an overestimation of bone mineral density (BMD) with dual-energy x-ray absorptiometry (DXA) but not with quantitative computed tomography (QCT). The correlation between degenerative changes of the spine and QCT-BMD was therefore investigated for the first time. One hundred thirty-four patients (66 female and 68 male) with a mean age of 49.0 ± 14.6 years (range: 19–88 years) who received a CT scan and QCT-BMD measurements of spine and hip were evaluated retrospectively. The occurrence and severity of spondylosis, osteochondrosis, and spondylarthrosis and the height of the vertebral bodies were assessed. A negative correlation was found between spinal BMD and number of spondylophytes (ρ = −0.35; p < 0.01), disc heights (r = −0.33; p < 0.01), number of discal air inclusions (ρ = −0.34; p < 0.01), the number of Schmorl nodules (ρ = −0.25; p < 0.01), the number (ρ = −0.219; p < 0.05) and the degree (ρ = −0.220; p < 0.05) of spondylarthrosis. Spinal and hip BMD correlated moderately, but the latter did not correlate with degenerative changes of the spine. In linear regression models age, osteochondrosis and spondylarthrosis were factors influencing spinal BMD. Degenerative spinal changes may be associated with reduced regional spinal mineralization. This knowledge could lead to a modification of treatment of degenerative spine disease with early treatment of osteopenia to prevent secondary fractures

  3. Negative MRI findings in a case of degenerative myelopathy in a dog : clinical communication

    Directory of Open Access Journals (Sweden)

    M. Okada

    2009-05-01

    Full Text Available An 11-year-old male Rough collie was submitted with paraparesis, but did not respond to medical treatment. Clinical signs worsened and the dog displayed paralysis, inability to stand and loss of voluntary bladder control, whereupon magnetic resonance imaging (MRI was performed. No significant abnormalities were identified from MRI, blood tests, cerebrospinal fluid tests or radiography. After MRI, the dog developed dyspnoea and died. Autopsy and subsequent histopathological examination led to a diagnosis of degenerative myelopathy.

  4. Human antiiodothyronine antibodies in patients with thyroid disorders and their effect on RIA of Iodothyronines

    International Nuclear Information System (INIS)

    Merlin, P.; Balsamo, A.; Mongardi, L.; Rapetti, C.; de Filippis, V.

    1983-01-01

    Human antiiodothyronine antibodies have been reported to occur with several thyroid conditions, associated or not with anti-thyroglobulin and/or anti-microsomes antibodies. These antibodies interfere in RIA of iodothyronines (T 3 ), giving an underestimation or an overestimation of total hormone levels when using a non-specific precipitation method (e.g. charcoal, PEG) or a specific method (e.g. double antibody), respectively. The presence of anti-iodothyronine antibodies was investigated in seven thyroid patients. The effect of the human anti-T 3 in RIA of total T 3 was ckecked by using different precipitation methods; the results showed that in the presence of circulating antibodies the only reliable method for the evaluation of total hormone is the RIA of serum ethanol extract

  5. Acrolein and Human Disease: Untangling the Knotty Exposure Scenarios Accompanying Several Diverse Disorders.

    Science.gov (United States)

    Burcham, Philip C

    2017-01-17

    Acrolein is a highly toxic electrophile that participates in many diseases, yet efforts to delineate its precise mechanistic contributions to specific conditions are complicated by its wide distribution within human environments. This Perspective develops the proposal that due to its mixed status as environmental pollutant, metabolic byproduct, and endotoxicant which forms via ubiquitous pathophysiological processes, many diseases likely involve acrolein released from multiple sources. Although the category boundaries are indistinct, at least four identifiable exposure scenarios are identifiable. First, in some syndromes, such as those accompanying chronic or acute intoxication with smoke, whatever role acrolein plays in disease pathogenesis mainly traces to exogenous sources such as the combustion of tobacco or other organic matter. A second exposure category involves xenobiotics that undergo metabolism within the body to release acrolein. Still other health conditions, however, involve acrolein that forms via several endogenous pathways, some of which are activated upon intoxication with xenobiotics (i.e., Exposure Category 3), while still others accompany direct physical trauma to body tissues (Exposure Category 4). Further complicating efforts to clarify the role of endogenous acrolein in human disease is the likelihood that many such syndromes are complex phenomena that resemble "chemical mixture exposures" by involving multiple toxic substances simultaneously. This Perspective contends that while recent decades have witnessed much progress in describing the deleterious effects of acrolein at the cellular and molecular levels, more work is needed to define the contributions of different acrolein sources to "real-world" health conditions in human subjects.

  6. Does football cause an increase in degenerative disease of the lumbar spine?

    Science.gov (United States)

    Gerbino, Peter G; d'Hemecourt, Pierre A

    2002-02-01

    Degenerative disease of the lumbar spine is exceedingly common. Whether any specific activity increases the likelihood of developing degenerative disc disease (DDD) or facet degeneration (FD) has enormous implications. Within the field of occupational medicine there are specific activities, occupations, and morphologic characteristics that have been related to low back pain. Several specific risk factors have been conclusively linked to low back pain, and in particular DDD and FD. Within the sport of American football, there has long been the feeling that many athletes have or will develop low back pain, DDD, and FD. Proving that certain risk factors present in football will predictably lead to an increase in LBP, DDD, and FD is more difficult. At this time, it can be said that football players, in general, increase their risk of developing low back pain, DDD, and FD as their years of involvement with their sport increase. Because specific spine injuries like fracture, disc herniation, and spondylolysis are more frequent in football players, the resulting DDD and FD are greater than that of the general population. The weightlifting and violent hyperextension that are part of American football are independent risk factors for degenerative spine disease.

  7. Bilateral coxofemoral degenerative joint disease in a juvenile male yellow-eyed penguin (Megadyptes antipodes).

    Science.gov (United States)

    Buckle, Kelly N; Alley, Maurice R

    2011-08-01

    A juvenile, male, yellow-eyed penguin (Megadyptes antipodes) with abnormal stance and decreased mobility was captured, held in captivity for approximately 6 weeks, and euthanized due to continued clinical signs. Radiographically, there was bilateral degenerative joint disease with coxofemoral periarticular osteophyte formation. Grossly, the bird had bilaterally distended, thickened coxofemoral joints with increased laxity, and small, roughened and angular femoral heads. Histologically, the left femoral articular cartilage and subchondral bone were absent, and the remaining femoral head consisted of trabecular bone overlain by fibrin and granulation tissue. There was no gross or histological evidence of infection. The historic, gross, radiographic, and histopathologic findings were most consistent with bilateral aseptic femoral head degeneration resulting in degenerative joint disease. Although the chronicity of the lesions masked the initiating cause, the probable underlying causes of aseptic bilateral femoral head degeneration in a young animal are osteonecrosis and osteochondrosis of the femoral head. To our knowledge, this is the first reported case of bilateral coxofemoral degenerative joint disease in a penguin.

  8. Differentiation of malignant and degenerative bone lesions using dexamethasone interventional 3- and 24-hour bone scintigraphy

    International Nuclear Information System (INIS)

    Bhatnagar, A.; Mondal, A.; Kashyap, R.; Sharma, R.K.; Sharma, R.; Chakravarty, S.K.; Bihari, V.; Sawroop, K.; Chopra, M.K.; Soni, N.L.

    1994-01-01

    Seventy-seven adult patients with suspected skeletal metastases were divided into two groups. In group A (n=30), following intravenous administration of 20 mCi (740 MBq) of technetium-99m methylene diphosphonate ( 99m Tc-MDP), 3- and 24-h scintigraphy of bone lesions was performed. The 24/3 h lesion to bone background radiouptake ratio (RUR) was calculated for each lesion. In group B (n=47), the same procedure was followed with dexamethasone intervention (10 mg in 24 h) following the 3-h acquisition. In group A, after determination of the critical point, malignant and degenerative bone lesions could be separated with a sensitivity, specificity and accuracy of 0.76, 0.72 and 0.73, respectively. The mean RUR of the malignant lesions was 1.20± 0.23, and that of the benign lesions, 0.95± 0.15. In group B cases, significantly increased sensitivity, specificity and accuracy of 0.87, 0.94 and 0.92, respectively, were found (P<0.001). The mean RUR of the malignant lesions was 1.48± 0.34, and that of degenerative lesions, 0.88± 0.19. Dexamethasone interventional bone scintigraphy seems to be a new cost-effective method for differentiating malignant from degenerative bone lesions using the RUR. (orig.)

  9. Triple pelvic osteotomy: effect on limb function and progression of degenerative joint disease

    International Nuclear Information System (INIS)

    Johnson, A.L.; Smith, C.W.; Pijanowski, G.J.; Hungerford, L.L.

    1998-01-01

    The objective of this study was to evaluate prospectively the outcome of 21 clinical patients treated with triple pelvic osteotomies during the year following surgery. Specific aims included documenting the time of and extent of improved limb function as measured by force plate analysis, evaluating the progression of degenerative joint disease (DJD) in the treated and untreated coxofemoral joints, and determining whether or not triple pelvic osteotomy resulted in degenerative joint changes in the ipsilateral stifle and hock. Twelve dogs were treated unilaterally and nine dogs were treated bilaterally with triple pelvic osteotomies. There were no differences in mean anteversion angles, angles of inclination, or preoperative DJD between treated hips and untreated hips. Degenerative joint disease progressed significantly in all hips regardless of treatment. Two cases developed hyperextension of their hocks after the triple pelvic osteotomies. However, no radiographic evidence of DJD was observed for any of the stifles or hocks at any observation time. A significant increase in vertical peak force (VPF) scores was noted for treated legs by two-to-three months after surgery, which continued over time. Untreated legs did not show a significant change in VPF scores over time. No differences were found in progression to higher scores when unilaterally treated legs, first-side treated legs, and second-side treated legs were compared

  10. Enlargement of lumbar spinal canal in lumbar degenerative spondylolisthesis. Evaluation with three-dimensional computed tomography

    International Nuclear Information System (INIS)

    Kunishi, Yoshihiko

    2003-01-01

    A number of clinical studies have demonstrated that enlargement of the lumbar spinal canal is one of the effective surgical procedures for the treatment of the lumbar degenerative spondylolisthesis and provides a good result. In the present study, we have evaluated the long-term outcome of the enlargement of the lumbar canal without fusion in thirty eight patients with lumbar degenerative spondylolisthesis using three-dimensional computed tomography (3D-CT) The improvement rate was excellent in 80% of the patients (mean improvement ratio, 83%) according to the Japanese Orthopedic Association scoring system. We found that the sufficient enlargement of the canal was obtained by the surgery and maintained for a long period of time. The results from 3D-CT suggested that a round shape was maintained in the canal after the surgery because of pressures of the dura mater against to the bony canal. None of patients showed lumbar instability. In conclusion, enlargement of lumbar canal without fusion is useful for the treatment of lumbar degenerative spondylolisthesis, and the enlarged canal has been maintained for a long period of time after the surgery. The results demonstrated the clinical utility of 3D-CT to evaluate the preoperative and postoperative shape of the spine. (author)

  11. Magnetic Resonance Imaging in degenerative disease of the lumbar spine: Fat Saturation technique and contrast medium.

    Science.gov (United States)

    D'Aprile, Paola; Nasuto, Michelangelo; Tarantino, Alfredo; Cornacchia, Samantha; Guglielmi, Giuseppe; Jinkins, J Randy

    2018-01-19

    To examine both anterior and posterior elements of the lumbar spine in patients with low back pain using MRI T2-weighted sequences with Fat Saturation (FS) and contrast enhanced T1-weighted sequences with FS. Two thousand eight hundred and twenty (2820) patients (1628 male, 1192 female, mean age 54) presenting low back pain underwent MRI standard examination (Sagittal T1w TSE and T2w TSE, axial T1 SE) with the addition of sagittal and axial T2w Fat Sat (FS) sequences. Among all the patients, 987 (35%) have been studied adding Contrast Enhanced (CE) T1w FS sequences after administration of contrast medium. Among 987 patients studied with contrast medium, we found: active-inflammatory intervertebral osteochondrosis in 646 (65%) patients; degenerative-inflammatory changes in facet joints (facet joint effusion, synovitis, synovial cysts) in 462 (47%); spondylolysis in 69 (7%); degenerative-inflammatory changes of the flava, interspinous and supraspinous ligaments in 245 (25%); inflammatory changes of posterior perispinal muscles in 84 (8%) patients. In patients with suspected no-disc-related low back pain, the implementation of T2w FS and CE T1w FS sequences to the standard MR protocol could allow a better identification of degenerative-inflammatory changes more likely associated to the pain.

  12. A Survey of Vitamin D Status in Patients with Degenerative Diseases of the Spine.

    Science.gov (United States)

    Zolfaghari, Farid; Faridmoayer, Alireza; Soleymani, Bahram; Taji, Mohammadreza; Mahabadi, Maryam

    2016-10-01

    Descriptive cross-sectional study. To determine the prevalence of vitamin D deficiency in patients with degenerative diseases of the spine about to undergo spinal surgery and the relations between such deficiency and potential risk factors. Vitamin D has a major role in musculoskeletal system health maintenance. Recently, studies on degenerative diseases of the spine have shown a high prevalence of vitamin D deficiency in patients undergoing spine surgery. Serum levels of 25(OH)D were determined by an electrochemiluminescence detection assay. The other variables were determined through relevant questionnaires, and the data was analyzed through analysis of variance, t -test, chi-square and multivariate logistic regression analysis. A total of 110 patients were enrolled in the study. The mean serum level of 25(OH)D was 27.45±18.75 ng/mL, and 44.5% of patients showed vitamin D deficiency (25(OH)Ddegenerative diseases of the spine. On the other hand, the conventional risk factors such as old age or female sex alone did not seem to be sufficient in determining the likelihood of deficiency. Thus, it is recommended that vitamin D deficiency prevention strategies comprise a broader spectrum of the population through which such degenerative diseases and their consequences may be prevented or delayed.

  13. Clinical Outcomes of Extreme Lateral Interbody Fusion in the Treatment of Adult Degenerative Scoliosis

    Directory of Open Access Journals (Sweden)

    Adam M. Caputo

    2012-01-01

    Full Text Available Introduction. The use of extreme lateral interbody fusion (XLIF and other lateral access surgery is rapidly increasing in popularity. However, limited data is available regarding its use in scoliosis surgery. The objective of this study was to evaluate the clinical outcomes of adults with degenerative lumbar scoliosis treated with XLIF. Methods. Thirty consecutive patients with adult degenerative scoliosis treated by a single surgeon at a major academic institution were followed for an average of 14.3 months. Interbody fusion was completed using the XLIF technique with supplemental posterior instrumentation. Validated clinical outcome scores were obtained on patients preoperatively and at most recent follow-up. Complications were recorded. Results. The study group demonstrated improvement in multiple clinical outcome scores. Oswestry Disability Index scores improved from 24.8 to 19.0 (P < 0.001. Short Form-12 scores improved, although the change was not significant. Visual analog scores for back pain decreased from 6.8 to 4.6 (P < 0.001 while scores for leg pain decreased from 5.4 to 2.8 (P < 0.001. A total of six minor complications (20% were recorded, and two patients (6.7% required additional surgery. Conclusions. Based on the significant improvement in validated clinical outcome scores, XLIF is effective in the treatment of adult degenerative scoliosis.

  14. Multimedia psychoeducational interventions to support patient self-care in degenerative conditions: A realist review.

    Science.gov (United States)

    O'Halloran, Peter; Scott, David; Reid, Joanne; Porter, Sam

    2015-10-01

    Multimedia interventions are increasingly used to deliver information in order to promote self-care among patients with degenerative conditions. We carried out a realist review of the literature to investigate how the characteristics of multimedia psychoeducational interventions combine with the contexts in which they are introduced to help or hinder their effectiveness in supporting self-care for patients with degenerative conditions. Electronic databases (Medline, Science Direct, PSYCHinfo, EBSCO, and Embase) were searched in order to identify papers containing information on multimedia psychoeducational interventions. Using a realist review approach, we reviewed all relevant studies to identify theories that explained how the interventions work. Ten papers were included in the review. All interventions sought to promote self-care behaviors among participants. We examined the development and content of the multimedia interventions and the impact of patient motivation and of the organizational context of implementation. We judged seven studies to be methodologically weak. All completed studies showed small effects in favor of the intervention. Multimedia interventions may provide high-quality information in an accessible format, with the potential to promote self-care among patients with degenerative conditions, if the patient perceives the information as important and develops confidence about self-care. The evidence base is weak, so that research is needed to investigate effective modes of delivery at different resource levels. We recommend that developers consider how an intervention will reduce uncertainty and increase confidence in self-care, as well as the impact of the context in which it will be employed.

  15. Surgical Outcome of Reduction and Instrumented Fusion in Lumbar Degenerative Spondylolisthesis

    Directory of Open Access Journals (Sweden)

    Farzad Omidi-Kashani

    2016-02-01

    Full Text Available Background: Lumbar degenerative spondylolisthesis (LDS is a degenerative slippage of the lumbar vertebrae. We aimed to evaluate the surgical outcome of degenerative spondylolisthesis with neural decompression, pedicular screw fixation, reduction, and posterolateral fusion. Methods: This before-after study was carried out on 45 patients (37 female and 8 male with LDS operated from August 2008 to January 2011. The patients’ pain and disability were assessed by visual analogue scale (VAS and Oswestry disability index (ODI questionnaire. In surgery, we applied distraction force to facilitate slip reduction. All the intra- and postoperative complications were recorded. The paired t-test and Pearson correlation coefficient were used for statistical analysis. Results: The mean age of patients and mean follow-up period were 58.3±3.5 years and 31.2±4.8 months, respectively. The mean slip correction rate was 52.2% with a mean correction loss of 4.8%. Preoperative VAS and ODI improved from 8.8 and 71.6 to postoperative 2.1 and 28.7, respectively. Clinical improvement was more prominent in more reduced patients, but Pearson coefficient could not find a significant correlation. Conclusion: Although spinal decompression with fusion and posterior instrumentation in surgical treatment of the patients with LDS result in satisfactory outcome, vertebral reduction cannot significantly enhance the clinical improvement.

  16. Agreement between computed tomography, magnetic resonance imaging, and surgical findings in dogs with degenerative lumbosacral stenosis.

    Science.gov (United States)

    Suwankong, Niyada; Voorhout, George; Hazewinkel, Herman A W; Meij, Björn P

    2006-12-15

    To assess the extent of agreement between computed tomography (CT), magnetic resonance imaging (MRI), and surgical findings in dogs with degenerative lumbosacral stenosis. Observational study. 35 dogs with degenerative lumbosacral stenosis. Results of preoperative CT and MRI were compared with surgical findings with respect to degree and location of disk protrusion, position of the dural sac, amount of epidural fat, and swelling of spinal nerve roots. A lumbosacral step was seen on radiographic images from 22 of 32 (69%) dogs, on CT images from 23 of 35 (66%) dogs, and on MR images from 21 of 35 (60%) dogs. Most dogs had slight or moderate disk protrusion that was centrally located. There was substantial or near perfect agreement between CT and MRI findings in regard to degree of disk protrusion (kappa, 0.88), location of disk protrusion (0.63), position of the dural sac (0.89), amount of epidural fat (0.72), and swelling of spinal nerve roots (0.60). The degree of agreement between CT and surgical findings and between MRI and surgical findings was moderate in regard to degree and location of disk protrusion (kappa, 0.44 to 0.56) and swelling of spinal nerve roots (0.40 and 0.50). Results indicate that there is a high degree of agreement between CT and MRI findings in dogs with degenerative lumbosacral stenosis but that the degree of agreement between diagnostic imaging findings and surgical findings is lower.

  17. Of mice and monkeys: using non-human primate models to bridge mouse- and human-based investigations of autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Watson Karli K

    2012-07-01

    Full Text Available Abstract The autism spectrum disorders (ASDs arise from a diverse array of genetic and environmental origins that disrupt the typical developmental trajectory of neural connectivity and synaptogenesis. ASDs are marked by dysfunctional social behavior and cognition, among other deficits. Greater understanding of the biological substrates of typical social behavior in animal models will further our understanding of the etiology of ASDs. Despite the precision and tractability of molecular genetics models of ASDs in rodents, these organisms lack the complexity of human social behavior, thus limiting their impact on understanding ASDs to basic mechanisms. Non-human primates (NHPs provide an attractive, complementary model for ASDs, due in part to the complexity and dynamics of social structures, reliance on vision for social signaling, and deep homology in brain circuitry mediating social behavior and reward. This knowledge is based on a rich literature, compiled over 50 years of observing primate behavior in the wild, which, in the case of rhesus macaques, is complemented by a large body of research characterizing neuronal activity during cognitive behavior. Several recent developments in this field are directly relevant to ASDs, including how the brain represents the perceptual features of social stimuli, how social information influences attention processes in the brain, and how the value of social interaction is computed. Because the symptoms of ASDs may represent extreme manifestations of traits that vary in intensity within the general population, we will additionally discuss ways in which nonhuman primates also show variation in social behavior and reward sensitivity. In cases where variation in species-typical behavior is analogous to similar variations in human behavior, we believe that study of the neural circuitry underlying this variation will provide important insights into the systems-level mechanisms contributing to ASD pathology.

  18. Cool and menthol receptor TRPM8 in human urinary bladder disorders and clinical correlations

    Directory of Open Access Journals (Sweden)

    Benham Christopher D

    2006-03-01

    Full Text Available Abstract Background The recent identification of the cold-menthol sensory receptor (TRPM8; CMR1, provides us with an opportunity to advance our understanding of its role in the pathophysiology of bladder dysfunction, and its potential mediation of the bladder cooling reflex. In this study, we report the distribution of the cool and menthol receptor TRPM8 in the urinary bladder in patients with overactive and painful bladder syndromes, and its relationship with clinical symptoms. Methods Bladder specimens obtained from patients with painful bladder syndrome (PBS, n = 16, idiopathic detrusor overactivity (IDO, n = 14, and asymptomatic microscopic hematuria (controls, n = 17, were immunostained using specific antibodies to TRPM8; nerve fibre and urothelial immunostaining were analysed using fibre counts and computerized image analysis respectively. The results of immunohistochemistry were compared between the groups and correlated with the Pain, Frequency and Urgency scores. Results TRPM8-immunoreactive staining was observed in the urothelium and nerve fibres scattered in the suburothelium. The nerve fibre staining was seen in fine-calibre axons and thick (myelinated fibres. There was marked increase of TRPM8-immunoreactive nerve fibres in IDO (P = 0.0249 and PBS (P Conclusion This study demonstrates increased TRPM8 in nerve fibres of overactive and painful bladders, and its relationship with clinical symptoms. TRPM8 may play a role in the symptomatology and pathophysiology of these disorders, and may provide an additional target for future overactive and painful bladder pharmacotherapy.

  19. Discovery of Cryoprotective Activity in Human Genome-Derived Intrinsically Disordered Proteins

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    Naoki Matsuo

    2018-01-01

    Full Text Available Intrinsically disordered proteins (IDPs are an emerging phenomenon. They may have a high degree of flexibility in their polypeptide chains, which lack a stable 3D structure. Although several biological functions of IDPs have been proposed, their general function is not known. The only finding related to their function is the genetically conserved YSK2 motif present in plant dehydrins. These proteins were shown to be IDPs with the YSK2 motif serving as a core region for the dehydrins’ cryoprotective activity. Here we examined the cryoprotective activity of randomly selected IDPs toward the model enzyme lactate dehydrogenase (LDH. All five IDPs that were examined were in the range of 35–45 amino acid residues in length and were equally potent at a concentration of 50 μg/mL, whereas folded proteins, the PSD-95/Dlg/ZO-1 (PDZ domain, and lysozymes had no potency. We further examined their cryoprotective activity toward glutathione S-transferase as an example of the other enzyme, and toward enhanced green fluorescent protein as a non-enzyme protein example. We further examined the lyophilization protective activity of the peptides toward LDH, which revealed that some IDPs showed a higher activity than that of bovine serum albumin (BSA. Based on these observations, we propose that cryoprotection is a general feature of IDPs. Our findings may become a clue to various industrial applications of IDPs in the future.

  20. Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

    International Nuclear Information System (INIS)

    Lehmann, A.R.; Arlett, C.F.; Broughton, B.C.

    1988-01-01

    Trichothiodystrophy (TTD) is an autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and physical retardation. Some patients are photosensitive. A previous study by Stefanini et al. showed that cells from four photosensitive patients with TTD had a molecular defect in DNA repair, which was not complemented by cells from xeroderma pigmentosum, complementation group D. In a detailed molecular and cellular study of the effects of UV light on cells cultured from three further TTD patients who did not exhibit photosensitivity we have found an array of different responses. In cells from the first patient, survival, excision repair, and DNA and RNA synthesis following UV irradiation were all normal, whereas in cells from the second patient all these responses were similar to those of excision-defective xeroderma pigmentosum (group D) cells. With the third patient, cell survival measured by colony-forming ability was normal following UV irradiation, even though repair synthesis was only 50% of normal and RNA synthesis was severely reduced. The excision-repair defect in these cells was not complemented by other TTD cell strains. These cellular characteristics of patient 3 have not been described previously for any other cell line. The normal survival may be attributed to the finding that the deficiency in excision-repair is confined to early times after irradiation. Our results pose a number of questions about the relationship between the molecular defect in DNA repair and the clinical symptoms of xeroderma pigmentosum and TTD

  1. Use of transfer learning to detect diffuse degenerative hepatic diseases from ultrasound images in dogs: A methodological study.

    Science.gov (United States)

    Banzato, T; Bonsembiante, F; Aresu, L; Gelain, M E; Burti, S; Zotti, A

    2018-03-01

    The aim of this methodological study was to develop a deep convolutional neural network (DNN) to detect degenerative hepatic disease from ultrasound images of the liver in dogs and to compare the diagnostic accuracy of the newly developed DNN with that of serum biochemistry and cytology on the same samples, using histopathology as a standard. Dogs with suspected hepatic disease that had no prior history of neoplastic disease, no hepatic nodular pathology, no ascites and ultrasonography performed 24h prior to death were included in the study (n=52). Ultrasonography and serum biochemistry were performed as part of the routine clinical evaluation. On the basis of histopathology, dogs were categorised as 'normal' (n=8), or having 'vascular abnormalities'(n=8), or 'inflammatory'(n=0), 'neoplastic' (n=4) or 'degenerative'(n=32) disease; dogs with 'neoplastic' disease were excluded from further analysis. On cytological evaluation, dogs were categorised as 'normal' (n=11), or having 'inflammatory' (n=0), 'neoplastic' (n=4) or 'degenerative' (n=37) disease. Dogs were categorised as having 'degenerative' (n=32) or 'non-degenerative' (n=16) liver disease for analysis due to the limited sample size. The DNN was developed using a transfer learning methodology on a pre-trained neural network that was retrained and fine-tuned to our data set. The resultant DNN had a high diagnostic accuracy for degenerative liver disease (area under the curve 0.91; sensitivity 100%; specificity 82.8%). Cytology and serum biochemical markers (alanine transaminase and aspartate transaminase) had poor diagnostic accuracy in the detection of degenerative liver disease. The DNN outperformed all the other non-invasive diagnostic tests in the detection of degenerative liver disease. Copyright © 2018 Elsevier Ltd. All rights reserved.

  2. Red Grape Skin Polyphenols Blunt Matrix Metalloproteinase-2 and -9 Activity and Expression in Cell Models of Vascular Inflammation: Protective Role in Degenerative and Inflammatory Diseases

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    Nadia Calabriso

    2016-08-01

    Full Text Available Matrix metalloproteinases (MMPs are endopeptidases responsible for the hydrolysis of various components of extracellular matrix. MMPs, namely gelatinases MMP-2 and MMP-9, contribute to the progression of chronic and degenerative diseases. Since gelatinases’ activity and expression are regulated by oxidative stress, we sought to evaluate whether supplementation with polyphenol-rich red grape skin extracts modulated the matrix-degrading capacity in cell models of vascular inflammation. Human endothelial and monocytic cells were incubated with increasing concentrations (0.5–25 μg/mL of Negroamaro and Primitivo red grape skin polyphenolic extracts (NSPE and PSPE, respectively or their specific components (0.5–25 μmol/L, before stimulation with inflammatory challenge. NSPE and PSPE inhibited, in a concentration-dependent manner, endothelial invasion as well as the MMP-9 and MMP-2 release in stimulated endothelial cells, and MMP-9 production in inflamed monocytes, without affecting tissue inhibitor of metalloproteinases (TIMP-1 and TIMP-2. The matrix degrading inhibitory capacity was the same for both NSPE and PSPE, despite their different polyphenolic profiles. Among the main polyphenols of grape skin extracts, trans-resveratrol, trans-piceid, kaempferol and quercetin exhibited the most significant inhibitory effects on matrix-degrading enzyme activities. Our findings appreciate the grape skins as rich source of polyphenols able to prevent the dysregulation of vascular remodelling affecting degenerative and inflammatory diseases.

  3. Surgical Management of Degenerative Meniscus Lesions: The 2016 ESSKA Meniscus Consensus.

    Science.gov (United States)

    Beaufils, P; Becker, R; Kopf, S; Englund, M; Verdonk, R; Ollivier, M; Seil, R

    2017-06-01

    Purpose  A degenerative meniscus lesion is a slowly developing process typically involving a horizontal cleavage in a middle-aged or older person. When the knee is symptomatic, arthroscopic partial meniscectomy has been practised for a long time with many case series reporting improved patient outcomes. Since 2002, several randomised clinical trials demonstrated no additional benefit of arthroscopic partial meniscectomy compared to non-operative treatment, sham surgery or sham arthroscopic partial meniscectomy. These results introduced controversy in the medical community and made clinical decision-making challenging in the daily clinical practice. To facilitate the clinical decision-making process, a consensus was developed. This initiative was endorsed by ESSKA. Methods  A degenerative meniscus lesion was defined as a lesion occurring without any history of significant acute trauma in a patient older than 35 years. Congenital lesions, traumatic meniscus tears and degenerative lesions occurring in young patients, especially in athletes, were excluded. The project followed the so-called formal consensus process, involving a steering group, a rating group and a peer-review group. A total of 84 surgeons and scientists from 22 European countries were included in the process. Twenty questions, their associated answers and an algorithm based on extensive literature review and clinical expertise, were proposed. Each question and answer set was graded according to the scientific level of the corresponding literature. Results  The main finding was that arthroscopic partial meniscectomy should not be proposed as a first line of treatment for degenerative meniscus lesions. Arthroscopic partial meniscectomy should only be considered after a proper standardised clinical and radiological evaluation and when the response to non-operative management has not been satisfactory. Magnetic resonance imaging of the knee is typically not indicated in the first-line work-up, but

  4. Surgical management of degenerative meniscus lesions: the 2016 ESSKA meniscus consensus.

    Science.gov (United States)

    Beaufils, Ph; Becker, R; Kopf, S; Englund, M; Verdonk, R; Ollivier, M; Seil, R

    2017-02-01

    A degenerative meniscus lesion is a slowly developing process typically involving a horizontal cleavage in a middle-aged or older person. When the knee is symptomatic, arthroscopic partial meniscectomy has been practised for a long time with many case series reporting improved patient outcomes. Since 2002, several randomised clinical trials demonstrated no additional benefit of arthroscopic partial meniscectomy compared to non-operative treatment, sham surgery or sham arthroscopic partial meniscectomy. These results introduced controversy in the medical community and made clinical decision-making challenging in the daily clinical practice. To facilitate the clinical decision-making process, a consensus was developed. This initiative was endorsed by ESSKA. A degenerative meniscus lesion was defined as a lesion occurring without any history of significant acute trauma in a patient older than 35 years. Congenital lesions, traumatic meniscus tears and degenerative lesions occurring in young patients, especially in athletes, were excluded. The project followed the so-called formal consensus process, involving a steering group, a rating group and a peer-review group. A total of 84 surgeons and scientists from 22 European countries were included in the process. Twenty questions, their associated answers and an algorithm based on extensive literature review and clinical expertise, were proposed. Each question and answer set was graded according to the scientific level of the corresponding literature. The main finding was that arthroscopic partial meniscectomy should not be proposed as a first line of treatment for degenerative meniscus lesions. Arthroscopic partial meniscectomy should only be considered after a proper standardised clinical and radiological evaluation and when the response to non-operative management has not been satisfactory. Magnetic resonance imaging of the knee is typically not indicated in the first-line work-up, but knee radiography should be used as

  5. Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans

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    Takeshi Nishino

    2012-11-01

    Full Text Available Xanthine oxidoreductase (XOR catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O2. The enzyme is a target of drugs to treat hyperuricemia, gout and reactive oxygen-related diseases. Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR due to genetic defect in the molybdenum cofactor sulfurase. Molybdenum cofactor deficiency is associated with triple deficiency of XOR, AO and sulfite oxidase, due to defective synthesis of molybdopterin, which is a precursor of molybdenum cofactor for all three enzymes. The present review focuses on mutation or chemical modification studies of mammalian XOR, as well as on XOR mutations identified in humans, aimed at understanding the reaction mechanism of XOR and the relevance of mutated XORs as models to estimate the possible side effects of clinical application of XOR inhibitors.

  6. Differential expression of follistatin and FLRG in human breast proliferative disorders

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    Amaral Vania F

    2009-09-01

    Full Text Available Abstract Background Activins are growth factors acting on cell growth and differentiation. Activins are expressed in high grade breast tumors and they display an antiproliferative effect inducing G0/G1 cell cycle arrest in breast cancer cell lines. Follistatin and follistatin- related gene (FLRG bind and neutralize activins. In order to establish if these activin binding proteins are involved in breast tumor progression, the present study evaluated follistatin and FLRG pattern of mRNA and protein expression in normal human breast tissue and in different breast proliferative diseases. Methods Paraffin embedded specimens of normal breast (NB - n = 8; florid hyperplasia without atypia (FH - n = 17; fibroadenoma (FIB - n = 17; ductal carcinoma in situ (DCIS - n = 10 and infiltrating ductal carcinoma (IDC - n = 15 were processed for follistatin and FLRG immunohistochemistry and in situ hybridization. The area and intensity of chromogen epithelial and stromal staining were analyzed semi-quantitatively. Results Follistatin and FLRG were expressed both in normal tissue and in all the breast diseases investigated. Follistatin staining was detected in the epithelial cytoplasm and nucleus in normal, benign and malignant breast tissue, with a stronger staining intensity in the peri-alveolar stromal cells of FIB at both mRNA and protein levels. Conversely, FLRG area and intensity of mRNA and protein staining were higher both in the cytoplasm and in the nucleus of IDC epithelial cells when compared to NB, while no significant changes in the stromal intensity were observed in all the proliferative diseases analyzed. Conclusion The present findings suggest a role for follistatin in breast benign disease, particularly in FIB, where its expression was increased in stromal cells. The up regulation of FLRG in IDC suggests a role for this protein in the progression of breast malignancy. As activin displays an anti-proliferative effect in human mammary cells, the

  7. Radioimmunoassay for human myoglobin: methods and results in patients with skeletal muscle or myocardial disorders

    International Nuclear Information System (INIS)

    Miyoshi, K.; Saito, S.; Kawai, H.; Kondo, A.; Iwasa, M.; Hayashi, T.; Yagita, M.

    1978-01-01

    A sensitive and specific radioimmunoassay has been developed for the measurement of serum Mb. Immunization of rabbit with human Mb yielded anti-Mb antibody which was purified by affinity chromatography. Human hemoglobin, CK, and the component of serum per se did not appear to cross-react with the antibody. Mb was radiolabeled by the chloramine T method. The radioimmunoassay method could detect as little as 0.3 ng of Mb and was not affected by hemolysis. Information is also given on precision, recovery, and specimen preservation. Mb levels could be detected in all of 120 normal adults, and the values ranged between 1 and 28 ng/ml (mean, 13.1 +- 6.1). No sex difference was observed. Levels were markedly elevated in all the patients with progressive muscular dystrophy, especially in the Duchenne type at the level of 40 to 1700 ng/ml. It was also noticed that about 70% of female gene carriers of Duchenne type had a slightly increased Mb level. An elevated serum Mb was also noted in polymyositis. In every case of acute myocardial infarction, serum Mb levels were increased, peak values ranging from 175 to 4400 ng/ml and averaging 1162 +- 287.9 Mb levels were elevated faster and peaked earlier (within 6 to 12 hr after the attack) than serum CK activity and returned to nearly normal range within 3 to 4 days. The increase in serum Mb was also noticed in shock and surgery. These data indicate that radioimmunoassay of Mb is a useful test for judging the myolytic state of myogenic myopathies and for early detection of myocardial infarction

  8. Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder

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    Saenger Paul

    2012-05-01

    Full Text Available Abstract The term small for gestational age (SGA refers to infants whose birth weights and/or lengths are at least two standard deviation (SD units less than the mean for gestational age. This condition affects approximately 3%–10% of newborns. Causes for SGA birth include environmental factors, placental factors such as abnormal uteroplacental blood flow, and inherited genetic mutations. In the past two decades, an enhanced understanding of genetics has identified several potential causes for SGA. These include mutations that affect the growth hormone (GH/insulin-like growth factor (IGF-1 axis, including mutations in the IGF-1 gene and acid-labile subunit (ALS deficiency. In addition, select polymorphisms observed in patients with SGA include those involved in genes associated with obesity, type 2 diabetes, hypertension, ischemic heart disease and deletion of exon 3 growth hormone receptor (d3-GHR polymorphism. Uniparental disomy (UPD and imprinting effects may also underlie some of the phenotypes observed in SGA individuals. The variety of genetic mutations associated with SGA births helps explain the diversity of phenotype characteristics, such as impaired motor or mental development, present in individuals with this disorder. Predicting the effectiveness of recombinant human GH (hGH therapy for each type of mutation remains challenging. Factors affecting response to hGH therapy include the dose and method of hGH administration as well as the age of initiation of hGH therapy. This article reviews the results of these studies and summarizes the success of hGH therapy in treating this difficult and genetically heterogenous disorder.

  9. The disordered C-terminal domain of human DNA glycosylase NEIL1 contributes to its stability via intramolecular interactions.

    Science.gov (United States)

    Hegde, Muralidhar L; Tsutakawa, Susan E; Hegde, Pavana M; Holthauzen, Luis Marcelo F; Li, Jing; Oezguen, Numan; Hilser, Vincent J; Tainer, John A; Mitra, Sankar

    2013-07-10

    NEIL1 [Nei (endonuclease VIII)-like protein 1], one of the five mammalian DNA glycosylases that excise oxidized DNA base lesions in the human genome to initiate base excision repair, contains an intrinsically disordered C-terminal domain (CTD; ~100 residues), not conserved in its Escherichia coli prototype Nei. Although dispensable for NEIL1's lesion excision and AP lyase activities, this segment is required for efficient in vivo enzymatic activity and may provide an interaction interface for many of NEIL1's interactions with other base excision repair proteins. Here, we show that the CTD interacts with the folded domain in native NEIL1 containing 389 residues. The CTD is poised for local folding in an ordered structure that is induced in the purified fragment by osmolytes. Furthermore, deletion of the disordered tail lacking both Tyr and Trp residues causes a red shift in NEIL1's intrinsic Trp-specific fluorescence, indicating a more solvent-exposed environment for the Trp residues in the truncated protein, which also exhibits reduced stability compared to the native enzyme. These observations are consistent with stabilization of the native NEIL1 structure via intramolecular, mostly electrostatic, interactions that were disrupted by mutating a positively charged (Lys-rich) cluster of residues (amino acids 355-360) near the C-terminus. Small-angle X-ray scattering (SAXS) analysis confirms the flexibility and dynamic nature of NEIL1's CTD, a feature that may be critical to providing specificity for NEIL1's multiple, functional interactions. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. Semi-Metric Topology of the Human Connectome: Sensitivity and Specificity to Autism and Major Depressive Disorder.

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    Tiago Simas

    Full Text Available The human functional connectome is a graphical representation, consisting of nodes connected by edges, of the inter-relationships of blood oxygenation-level dependent (BOLD time-series measured by MRI from regions encompassing the cerebral cortices and, often, the cerebellum. Semi-metric analysis of the weighted, undirected connectome distinguishes an edge as either direct (metric, such that there is no alternative path that is accumulatively stronger, or indirect (semi-metric, where one or more alternative paths exist that have greater strength than the direct edge. The sensitivity and specificity of this method of analysis is illustrated by two case-control analyses with independent, matched groups of adolescents with autism spectrum conditions (ASC and major depressive disorder (MDD.Significance differences in the global percentage of semi-metric edges was observed in both groups, with increases in ASC and decreases in MDD relative to controls. Furthermore, MDD was associated with regional differences in left frontal and temporal lobes, the right limbic system and cerebellum. In contrast, ASC had a broadly increased percentage of semi-metric edges with a more generalised distribution of effects and some areas of reduction. In summary, MDD was characterised by localised, large reductions in the percentage of semi-metric edges, whilst ASC is characterised by more generalised, subtle increases. These differences were corroborated in greater detail by inspection of the semi-metric backbone for each group; that is, the sub-graph of semi-metric edges present in >90% of participants, and by nodal degree differences in the semi-metric connectome.These encouraging results, in what we believe is the first application of semi-metric analysis to neuroimaging data, raise confidence in the methodology as potentially capable of detection and characterisation of a range of neurodevelopmental and psychiatric disorders.

  11. Prevalence and genotypic characterization of human parvovirus B19 in children with hemato-oncological disorders in North India.

    Science.gov (United States)

    Jain, Parul; Jain, Amita; Prakash, Shantanu; Khan, Danish N; Singh, Desh D; Kumar, Archana; Moulik, Nirmalya R; Chandra, Tulika

    2015-02-01

    Human parvovirus B19 (B19V) has been associated with chronic anemia in immuno-compromised patients. In the present study, the prevalence and genotype distribution of B19V in children from North India, suffering with hemato-oncological disorders is reported. Children with aplastic anemia/leukemia/chronic hematological disorders, and healthy blood donors were enrolled in the study. Blood samples from cases and blood donors were analyzed for anti-B19V IgM and anti-B19V IgG antibodies by ELISA and for B19V-DNA by PCR. B19V-DNA positive samples were studied further for determination of viral load in samples and for B19V-DNA sequence (VP1/VP2 overlapping region) analysis. Total 238 cases (103 leukemia, 77 aplastic anemia and 58 chronic hematological disorders) and 350 blood donors were enrolled in the study. Anti-B19V IgM was positive in 16 (6.7%) cases, B19V-DNA was detected in 13 (5.5%) cases and anti-B19V IgG was positive in 127 (53.4%) cases. Total 223 (63.5%) blood donors were positive for anti-B19V IgG, however, anti-B19V IgM and B19V-DNA was not detected in any blood donor. The prevalence of anti-B19V IgG was significantly higher in children > 10 years of age. Viral load of B19V decreased with appearance of specific antibodies. Phylogenetic analysis of the VP1/VP2 overlapping region revealed that genotype 1 predominated in these patients (11/13, 84.6%), followed by genotype 3 (2/13, 15.4%). No genotype 2 was detected. All the genotype 1strains were sub-typed as 1a, except four strains, which matched neither 1a nor 1b and formed a separate cluster. Both the genotype 3 strains were sub-typed as 3b. © 2014 Wiley Periodicals, Inc.

  12. Mitochondrial Fusion Proteins and Human Diseases

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    Michela Ranieri

    2013-01-01

    Full Text Available Mitochondria are highly dynamic, complex organelles that continuously alter their shape, ranging between two opposite processes, fission and fusion, in response to several stimuli and the metabolic demands of the cell. Alterations in mitochondrial dynamics due to mutations in proteins involved in the fusion-fission machinery represent an important pathogenic mechanism of human diseases. The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1 and 2 (MFN2, located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1, in the inner membrane. An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. While these disorders can still be considered rare, defective mitochondrial dynamics seem to play a significant role in the molecular and cellular pathogenesis of more common neurodegenerative diseases, for example, Alzheimer’s and Parkinson’s diseases. This review provides an overview of the basic molecular mechanisms involved in mitochondrial fusion and focuses on the alteration in mitochondrial DNA amount resulting from impairment of mitochondrial dynamics. We also review the literature describing the main disorders associated with the disruption of mitochondrial fusion.

  13. Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

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    Guillaume Huguet

    Full Text Available Inherited and de novo genomic imbalances at chromosome 16p11.2 are associated with autism spectrum disorders (ASD, but the causative genes remain unknown. Among the genes located in this region, PRRT2 codes for a member of the synaptic SNARE complex that allows the release of synaptic vesicles. PRRT2 is a candidate gene for ASD since homozygote mutations are associated with intellectual disability and heterozygote mutations cause benign infantile seizures, paroxysmal dyskinesia, or hemiplegic migraine. Here, we explored the contribution of PRRT2 mutations in ASD by screening its coding part in a large sample of 1578 individuals including 431 individuals with ASD, 186 controls and 961 individuals from the human genome Diversity Panel. We detected 24 nonsynonymous variants, 1 frameshift (A217PfsX8 and 1 in-frame deletion of 6 bp (p.A361_P362del. The frameshift mutation was observed in a control with no history of neurological or psychiatric disorders. The p.A361_P362del was observed in two individuals with autism from sub-Saharan African origin. Overall, the frequency of PRRT2 deleterious variants was not different between individuals with ASD and controls. Remarkably, PRRT2 displays a highly significant excess of nonsynonymous (pN vs synonymous (pS mutations in Asia (pN/pS = 4.85 and Europe (pN/pS = 1.62 compared with Africa (pN/pS = 0.26; Asia vs Africa: P = 0.000087; Europe vs Africa P = 0.00035; Europe vs Asia P = P = 0.084. We also showed that whole genome amplification performed through rolling cycle amplification could artificially introduce the A217PfsX8 mutation indicating that this technology should not be performed prior to PRRT2 mutation screening. In summary, our results do not support a role for PRRT2 coding sequence variants in ASD, but provide an ascertainment of its genetic variability in worldwide populations that should help researchers and clinicians to better investigate the role of PRRT2 in human

  14. New techniques for positron emission tomography in the study of human neurological disorders

    Energy Technology Data Exchange (ETDEWEB)

    Kuhl, D.E.

    1992-01-01

    The general goals of the physics and kinetic modeling projects are to: (1) improve the quantitative information extractable from PET images, and (2) develop, implement and optimize tracer kinetic models for new PET neurotransmitter/receptor ligands aided by computer simulations. Work towards improving PET quantification has included projects evaluating: (1) iterative reconstruction algorithms using supplemental boundary information, (2) automated registration of dynamic PET emission and transmission data using sinogram edge detection, and (3) automated registration of multiple subjects to a common coordinate system, including the use of non-linear warping methods. Simulation routines have been developed providing more accurate representation of data generated from neurotransmitter/receptor studies. Routines consider data generated from complex compartmental models, high or low specific activity administrations, non-specific binding, pre- or post-injection of cold or competing ligands, temporal resolution of the data, and radiolabeled metabolites. Computer simulations and human PET studies have been performed to optimize kinetic models for four new neurotransmitter/receptor ligands, ({sup 11}C)TRB (muscarinic), ({sup 11}C)flumazenil (benzodiazepine), ({sup 18}F)GBR12909, (dopamine), and ({sup 11}C)NMPB (muscarinic).

  15. PIXE analysis of trace elements in human hair of patients with liver disorders

    International Nuclear Information System (INIS)

    Bolormaa, O.; Tsuji, M.; Kawasaki, K.; Narantsetseg, S.; Hattori, T.

    2006-01-01

    Human hairs of cirrhosis, acute viral hepatitis patients and healthy people in Ulaanbaatar, capital city of Mongolia, were analyzed for the presence of heavy elements by PIXE spectrometry using 2.5 MeV proton beam at the Tokyo Institute of Technology Van de Graaff Laboratory. The samples were dissolved in a mixture of nitric acid and hydrogen peroxide. Then a 20μl aliquot was dropped on a Nuclepore Track-etch Membrane. The IAEA Reference Hair IAEA-086 certified reference material was used in order to verify accuracy of the method and the results were in good agreement with the certified values. To determine the interaction among nine elements in hair, correlation coefficients were evaluated for several pairs of elements. in the group of healthy control, no correlation between elements was identified. Opposite to this, the strong positive correlations were observed for Zn and Ca or Fe; Mn and Ca or Ti; Sr and Zn or Fe in the patients hair. In the present study, the mean concentrations of Ca, Ti, As and Sr in Mongolian patients were higher than those in the hair of normal people in Japan, Mongolia, Iran and Indonesia. The levels of Cu, Zn and Mn concentration in hair of normal people were almost the same for all the cohorts. (Author)

  16. New techniques for positron emission tomography in the study of human neurological disorders

    International Nuclear Information System (INIS)

    Kuhl, D.E.

    1992-01-01

    The general goals of the physics and kinetic modeling projects are to: (1) improve the quantitative information extractable from PET images, and (2) develop, implement and optimize tracer kinetic models for new PET neurotransmitter/receptor ligands aided by computer simulations. Work towards improving PET quantification has included projects evaluating: (1) iterative reconstruction algorithms using supplemental boundary information, (2) automated registration of dynamic PET emission and transmission data using sinogram edge detection, and (3) automated registration of multiple subjects to a common coordinate system, including the use of non-linear warping methods. Simulation routines have been developed providing more accurate representation of data generated from neurotransmitter/receptor studies. Routines consider data generated from complex compartmental models, high or low specific activity administrations, non-specific binding, pre- or post-injection of cold or competing ligands, temporal resolution of the data, and radiolabeled metabolites. Computer simulations and human PET studies have been performed to optimize kinetic models for four new neurotransmitter/receptor ligands, [ 11 C]TRB (muscarinic), [ 11 C]flumazenil (benzodiazepine), [ 18 F]GBR12909, (dopamine), and [ 11 C]NMPB (muscarinic)

  17. Relationship Between Displacement and Degenerative Changes of the Sesamoids in Hallux Valgus.

    Science.gov (United States)

    Katsui, Ryuhei; Samoto, Norihiro; Taniguchi, Akira; Akahane, Manabu; Isomoto, Shinji; Sugimoto, Kazuya; Tanaka, Yasuhito

    2016-12-01

    Although the tangential sesamoid view is used to visualize the sesamoid position relative to the first metatarsal head, correctly evaluating patients with severe varus of the first metatarsal is difficult. Computed tomography (CT) can be helpful due to its cross-sectional images in any plane. The purposes of this study were to evaluate the alignment of the tibial sesamoid and investigate the relationship between malalignment and degenerative change in the sesamoid metatarsal joint (SMJ) using simulated weight-bearing CT imaging in patients with hallux valgus. In total, 269 feet from 142 patients with hallux valgus were included. The mean age was 63.7 years (range, 33-87 years). An anteroposterior weight-bearing radiograph was assessed for sesamoid position into 3 grades: grade 1, the tibial sesamoid was medial to the axis of the first metatarsal; grade 2, the tibial sesamoid was located below the first metatarsal axis; and grade 3, the tibial sesamoid was lateral to the first metatarsal axis. The hallux valgus and intermetatarsal angles (HVA and IMA, respectively) were measured. The lateral shift of the tibial sesamoid relative to the first metatarsal was classified into 3 grades on simulated weight-bearing CT classification: grade 1, tibial sesamoid was entirely medial to the intersesamoid ridge; grade 2, tibial sesamoid was subluxated laterally but located below the intersesamoid ridge; and grade 3, tibial sesamoid was located entirely lateral to the intersesamoid ridge. The differences of HVA and IMA in each grade were confirmed by using 1-way analysis of variance with Bonferroni post hoc corrections. Furthermore, multiple linear regression analysis was used to predict the degenerative change in the SMJ for age, sex, sesamoid position determined by CT or plain radiography, HVA, and IMA. The χ 2 test was used for descriptive statistics to analyze the agreement between radiography or CT classifications of sesamoid position against degenerative change in the SMJ

  18. Extracellular matrix metabolism disorder induced by mechanical strain on human parametrial ligament fibroblasts.

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    Min, Jie; Li, Bingshu; Liu, Cheng; Guo, Wenjun; Hong, Shasha; Tang, Jianming; Hong, Li

    2017-05-01

    Pelvic organ prolapse (POP) is a global health problem that may seriously impact the quality of life of the sufferer. The present study aimed to investigate the potential mechanisms underlying alterations in extracellular matrix (ECM) metabolism in the pathogenesis of POP, by investigating the expression of ECM components in human parametrial ligament fibroblasts (hPLFs) subject to various mechanical strain loads. Fibroblasts derived from parametrial ligaments were cultured from patients with POP and without malignant tumors, who underwent vaginal hysterectomy surgery. Fibroblasts at generations 3‑6 of exponential phase cells were selected, and a four‑point bending device was used for 0, 1,333 or 5,333 µ mechanical loading of cells at 0.5 Hz for 4 h. mRNA and protein expression levels of collagen type I α 1 chain (COL1A1), collagen type III α 1 chain (COL3A1), elastin, matrix metalloproteinase (MMP) ‑2 and ‑9, and transforming growth factor (TGF)‑β1 were detected by reverse transcription‑quantitative polymerase chain reaction and western blotting, respectively. Under increased mechanical strain (5,333 µ), mRNA and protein expression levels of COL1A1, COL3A1 elastin and TGF‑β1 decreased, particularly COL1A1; however, mRNA and protein expression levels of MMP‑2 and ‑9 were significantly increased, compared with the control group (0 µ strain). Following 1,333 µ mechanical strain, mRNA and protein expression levels of COL1A1, COL3A1 elastin and MMP‑2 increased, and MMP‑9 decreased, whereas no significant differences were observed in TGF‑β1 mRNA and protein expression levels. In conclusion, ECM alterations may be involved in pathogenesis of POP, with decreased synthesis and increased degradation of collagen and elastin. Furthermore, the TGF‑β1 signaling pathway may serve an important role in this process and thus may supply a new target and strategy for understanding the etiology and therapy of POP.

  19. Sagittal plane analysis of the spine and pelvis in degenerative lumbar scoliosis.

    Science.gov (United States)

    Han, Fei; Weishi, Li; Zhuoran, Sun; Qingwei, Ma; Zhongqiang, Chen

    2017-01-01

    Previous studies have reported the normative values of pelvic sagittal parameters, but no study has analyzed the sagittal spino-pelvic alignment in degenerative lumbar scoliosis (DLS) and its role in the pathogenesis. Retrospective analysis was applied to 104 patients with DLS, together with 100 cases of asymptomatic young adults as a control group and another control group consisting of 145 cases with cervical spondylosis. The coronal and sagittal parameters were measured on the anteroposterior and lateral radiograph of the whole spine in the DLS group as well as in the two control groups. Statistical analysis showed that the DLS group had a higher pelvic incidence (PI) value (50.5° ± 10.2°), than the normal control group (with PI 47.2° ± 8.8°) and the cervical spondylosis group (46.9° ± 9.1°). In DLS group, there were 38 cases (36.5%) complicated with degenerative lumbar spondylolisthesis, who had higher PI values than patients without it. Besides, the lumbar lordosis (LL) and sacral slope (SS) of DLS group were lower; the scoliosis Cobb's angle was correlated with pelvic tilt (PT); thoracic kyphosis was correlated with LL, SS, and PT; and LL was correlated with other sagittal parameters. Patients with DLS may have a higher PI, which may impact the pathogenesis of DLS. A high PI value is probably associated with the high prevalence of degenerative lumbar spondylolisthesis among DLS patients. In DLS patients, the lumbar spine maintains the ability of regulating the sagittal balance, and the regulation depends more on thoracic curve.

  20. Assessing the clinical utility of combined movement examination in symptomatic degenerative lumbar spondylosis.

    Science.gov (United States)

    Monie, A P; Price, R I; Lind, C R P; Singer, K P

    2015-07-01

    The aim of this study is to report the development and validation of a low back computer-aided combined movement examination protocol in normal individuals and record treatment outcomes of cases with symptomatic degenerative lumbar spondylosis. Test-retest, following intervention. Self-report assessments and combined movement examination were used to record composite spinal motion, before and following neurosurgical and pain medicine interventions. 151 normal individuals aged from 20 years to 69 years were assessed using combined movement examination between L1 and S1 spinal levels to establish a reference range. Cases with degenerative low back pain and sciatica were assessed before and after therapeutic interventions with combined movement examination and a battery of self-report pain and disability questionnaires. Change scores for combined movement examination and all outcome measures were derived. Computer-aided combined movement examination validation and intraclass correlation coefficient with 95% confidence interval and least significant change scores indicated acceptable reliability of combined movement examination when recording lumbar movement in normal subjects. In both clinical cases lumbar spine movement restrictions corresponded with self-report scores for pain and disability. Post-intervention outcomes all showed significant improvement, particularly in the most restricted combined movement examination direction. This study provides normative reference data for combined movement examination that may inform future clinical studies of the technique as a convenient objective surrogate for important clinical outcomes in lumbar degenerative spondylosis. It can be used with good reliability, may be well tolerated by individuals in pain and appears to change in concert with validated measures of lumbar spinal pain, functional limitation and quality of life. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. The results of decompressive surgery and instrumented posterolateral fusion in refractory degenerative spondylolisthesis

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    Behtash H

    2009-02-01

    Full Text Available "nBackground: Degenerative spondylolisthesis is a common disease of the lumbar spine especially in older ones. The disease represents a challenge to the treating physician. At present, for those patients that deteriorate clinically, there are many proposed algorithms for the surgical treatment. This before and after study was undertaken to assess the surgical results of decompression and instrumented posterolateral fusion in these patients. "nMethods: The study population consisted of 23 patients who had undergone no prior surgery for degenerative spondylolisthesis on the lumbar spine. These patients were treated by decompression, bilateral posterolateral fusion, and segmental (pedicle screw instrumentation with mean follow-up of 29 months (range, 13-73 months. Finally, The clinical results were evaluated for all patients by means of an Oswestry Disability Index (ODI version 2.1, the Henderson's functional capacity, and persistence of leg symptoms, low back pain or claudication. Mann-Whitney and Chi-Square tests were used to assess the average values and comparison, respectively. "nResults: Henderson's functional capacity at the last visit session was excellent in 14 (60.9%, good in 7 (30.4%, fair in 2 (8.7% cases. ODI decreased from 72.2% (50-88% preoperatively to 14.4% (0-54% at the latest follow-up visit. A history of leg pain or claudication was correlated significantly with the amount of decline in ODI score and Henderson's functional capacity (p<0.05. "nConclusion: In spite of limited number of our patients, decompressive surgery plus instrumented posterolateral fusion is a safe, reliable, and satisfactory procedure for treating degenerative lumbar spondylolisthesis. This procedure may be done when conservative treatment was failed and psychological problems can be ruled out.

  2. Nucleoplasty for treating lumbar disk degenerative low back pain: an outcome prediction analysis

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    Liliang PC

    2016-10-01

    Full Text Available Po-Chou Liliang,1 Kang Lu,1 Cheng-Loong Liang,1 Ya-Wen Chen,2,3 Yu-Duan Tsai,1 Yuan-Kun Tu4 1Department of Neurosurgery, E-Da Hospital, 2Department of Nursing, I-Shou University, 3School of Nursing, Kaohsiung Medical University, 4Department of Orthopedic Surgery, E-Da Hospital, I-Shou University, Kaohsiung, Taiwan Purpose: Nucleoplasty is a minimally invasive technique that is considered efficacious in alleviating lumbar disk degenerative low back pain (LBP. The efficacy of nucleoplasty and identified variables that can predict pain relief for nucleoplasty was reported. Patients and methods: Between December 2013 and November 2015, 47 nucleoplasty procedures on 47 lumbar disks in 31 consecutive patients were performed. The outcome was evaluated using a visual analog scale (VAS score. Improvements of ≥50% in VAS scores were considered substantial pain relief. The variables associated with pain relief after nucleoplasty included: 1 age; 2 sex; 3 body mass index; 4 hyperintensity zone at the rear of the disk; 5 hypointensity of the disk; 6 Modic changes of the end plates; 7 spinal instability pain; and 8 discography results. Results: Twenty-one patients (67.7% experienced substantial pain relief. The most common side effects following nucleoplasty were soreness at the needle puncture site (64.5%, numbness in the lower leg (12.9%, and increased intensity of back pain (9.7%. All side effects were transient. Multivariate analysis revealed that the discography results were the most critical predictor for substantial pain relief of nucleoplasty (P=0.03. The sensitivity and specificity of discography were 92.8% and 62.5%, respectively. Conclusion: Discography results could improve the success rate of nucleoplasty in the treatment of disk degenerative LBP. Keywords: low back pain, lumbar disk degenerative, nucleoplasty, discography 

  3. Do musculoskeletal degenerative diseases affect mortality and cause of death after 10 years in Japan?

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    Tsuboi, Masaki; Hasegawa, Yukiharu; Matsuyama, Yukihiro; Suzuki, Sadao; Suzuki, Koji; Imagama, Shiro

    2011-03-01

    There are several reports from Europe and the United States on mortality from musculoskeletal degenerative diseases; however, no reports have been published from Japan. This study is the first that has examined whether musculoskeletal degenerative diseases affect life prognosis in Japan. As many as 944 persons who were 60 years of age and older and who underwent one or more musculoskeletal checkups (knee, lower back, and bone mineral density examination) were enrolled. Survival and death after 10 years were examined. For each knee, lower back, and bone mineral density examination, subjects were divided into normal and abnormal groups. For each of the examinations (knee, lower back, or bone mineral density), 10-year mortality was compared between the two groups. Also, causes of death were examined after 10 years. As many as 805 subjects survived and 125 died. For those with and without osteoarthritis of the knee, mortality after 10 years was 17 and 10%, respectively. For those with and without lower back abnormalities, mortality after 10 years was 12 and 14%, respectively. For those with or without low bone mineral density, mortality after 10 years was 17 and 10%, respectively. Multivariate analysis adjusted for age, gender, body mass index, and lifestyle revealed that odds ratio of death after 10 years was 2.32 and 2.33 in the presence of osteoarthritis of the knee and a low bone mineral density, respectively, and thus the risk of death after 10 years was significantly high. With regard to the cause of death, cerebrovascular and cardiovascular diseases were most frequently evident in patients with osteoarthritis of the knee. Musculoskeletal degenerative diseases influence mortality after 10 years.

  4. Stand-Alone Lateral Interbody Fusion for the Treatment of Low-Grade Degenerative Spondylolisthesis