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  1. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

    NARCIS (Netherlands)

    Claeys, Kristl G.; Züchner, Stephan; Kennerson, Marina; Berciano, José; Garcia, Antonio; Verhoeven, Kristien; Storey, Elsdon; Merory, John R.; Bienfait, Henriette M. E.; Lammens, Martin; Nelis, Eva; Baets, Jonathan; de Vriendt, Els; Berneman, Zwi N.; de Veuster, Ilse; Vance, Jefferey M.; Nicholson, Garth; Timmerman, Vincent; de Jonghe, Peter

    2009-01-01

    Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B

  2. Charcot-Marie-Tooth disease.

    LENUS (Irish Health Repository)

    Reilly, Mary M

    2011-03-01

    Charcot-Marie-Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described. This has made obtaining an accurate genetic diagnosis possible but at times challenging for clinicians. This review aims to provide a simple, pragmatic approach to diagnosing CMT from a clinician\\'s perspective.

  3. Charcot-Marie-Tooth disease type 1A

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Børglum, A D; Brandt, C A

    1994-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients...

  4. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H; Barsottini, Orlando G P; Kawarai, Toshitaka; Orlacchio, Antonio

    2016-01-01

    Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes. An additional locus for autosomal recessive Charcot-Marie-Tooth

  5. Dysfunction in the hip joints in children with Charcot-Marie-Tooth syndrome (literature review

    Directory of Open Access Journals (Sweden)

    Ivan Yurievich Pozdnikin

    2015-09-01

    Full Text Available A review of the literature on the treatment of children with dysfunction in the hip joints in motor-sensory neuropathy Charcot-Marie-Tooth is presented. Peculiarities of disease diagnosis and the approach used in the treatment of patients are described. The Charcot-Marie-Tooth syndrome is a hereditary neuromuscular disease characterized by progressive atrophy of the distal muscle group of the lower limbs. According to international authors, the incidence of hip joint dysfunction in this condition is at least 10%, ranking second only to foot deformities. In the Russian literature, the problem has not been adequately interpreted. Early diagnosis of dysfunction in the hip joints during Charcot-Marie-Tooth syndrome is complicated by the child's age and is characterized by progression. Conflicting clinical signs and trivial symptoms of the disease also confuse diagnosis, until it becomes clearer in adolescence or the second or third decade of life. Surgical reconstructive operations on the hip joint often occur too late, and they are accompanied by a greater frequency of neurological complications. Practitioner awareness coupled with an early diagnosis of hip subluxation and decentration and complex orthopedic and neurological examinations of children with the disease of Charcot-Marie-Tooth should result in more favorable outcomes.

  6. An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients

    Science.gov (United States)

    2017-06-09

    Charcot Marie Tooth Disease (CMT); Hereditary Sensory and Motor Neuropathy; Nerve Compression Syndromes; Tooth Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Heredodegenerative Disorders, Nervous System

  7. Autosomal recessive Charcot-Marie-Tooth neuropathy.

    Science.gov (United States)

    Espinós, Carmen; Calpena, Eduardo; Martínez-Rubio, Dolores; Lupo, Vincenzo

    2012-01-01

    Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.

  8. Charcot-Marie-Tooth disease complicating type 2 diabetes.

    LENUS (Irish Health Repository)

    Win, Htet Htet Ne

    2012-02-01

    Although both conditions are relatively common, there are very few descriptions of type 2 diabetes mellitus coexisting with Charcot-Marie-Tooth disease (CMT). This case report and literature review describes a 53-year-old Irish man who presented with type 2 diabetes and significant neuropathy, and who was subsequently diagnosed with CMT type 1A. This case report will also discuss how to differentiate diabetic neuropathy from a progressive hereditary neuropathy and how coexistence aggravates the progression of neuropathy thus necessitating early diagnosis.

  9. Charcot-marie-tooth disease complicating type 2 diabetes.

    LENUS (Irish Health Repository)

    Win, Htet Htet Ne

    2011-07-01

    Although both conditions are relatively common, there are very few descriptions of type 2 diabetes mellitus coexisting with Charcot-Marie-Tooth disease (CMT). This case report and literature review describes a 53-year-old Irish man who presented with type 2 diabetes and significant neuropathy, and who was subsequently diagnosed with CMT type 1A. This case report will also discuss how to differentiate diabetic neuropathy from a progressive hereditary neuropathy and how coexistence aggravates the progression of neuropathy thus necessitating early diagnosis.

  10. Hand involvement in children with Charcot-Marie-Tooth disease type 1A

    NARCIS (Netherlands)

    Burns, Joshua; Bray, Paula; Cross, Lauren A.; North, Kathryn N.; Ryan, Monique M.; Ouvrier, Robert A.

    2008-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating neuropathy characterised by progressive length-dependent muscle weakness and atrophy, is thought to affect the foot and leg first followed some time later by hand weakness and dysfunction. We aimed to characterise hand Strength, function

  11. Hip Subluxation, first clinical manifestation in a boy with illness of Charcot Marie Tooth

    International Nuclear Information System (INIS)

    Marin Nino, Jorge Enrique; Rosselli Cock, Pablo

    2005-01-01

    Charcot-Marie-Tooth disease is a motor and sensitive neuropathy characterized by limb atrophy and weakness, cavus feet and in some cases acetabular dysplasia. We present a case of bilateral hip subluxation caused by this disease, which needed surgical correction

  12. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

    LENUS (Irish Health Repository)

    Murphy, Sinead M

    2012-07-01

    Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice.

  13. Charcot-Marie-Tooth disease in Denmark

    DEFF Research Database (Denmark)

    Vaeth, Signe; Vaeth, Michael; Andersen, Henning

    2017-01-01

    OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register....... The prevalence was estimated by 31 December 2012, and the incidence rate was calculated based on data from 1988 to 2012. We calculated a standardised mortality ratio (SMR) and an absolute excess mortality rate (AER) stratified according to age categories and disease duration. RESULTS: A total of 1534 patients...... a significantly higher SMR in cases below 50 years of age, and in cases with disease duration of more than 10 years. CONCLUSIONS: We found a reduced life expectancy among patients diagnosed with CMT. To our knowledge, this is the first study of CMT to use nationwide register-based data, and the first to report...

  14. Diagnosis of Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    Isabel Banchs

    2009-01-01

    Full Text Available Charcot-Marie-Tooth (CMT disease or hereditary motor and sensory neuropathy (HMSN is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked, according to electrophysiological findings (demyelinating or axonal, or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.

  15. The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.

    Science.gov (United States)

    Al-Mateen, Majeed; Craig, Alexa Kanwit; Chance, Phillip F

    2014-03-01

    We describe 2 patients with X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) disease and central nervous system manifestations and review 19 cases from the literature. Our first case had not been previously diagnosed with Charcot-Marie-Tooth disease, and the second case, although known to have Charcot-Marie-Tooth disease, was suspected of having CMTX1 after presentation with central nervous system manifestations. The most common central nervous system manifestations were transient and included dysarthria, ataxia, hemiparesis, and tetraparesis resembling periodic paralysis. Of the 21 patients, 19 presented at 21 years of age or younger, implicating CMTX1 with transient central nervous system manifestations as a disorder that predominantly affects children and adolescents. CMTX1 should be included in the differential diagnosis of patients who present with transient central nervous system phenomena, including stroke-like episodes, tetraparesis suggestive of periodic paralysis, dysarthria, ataxia, or combinations of these deficits. Reversible, bilateral, nonenhancing white matter lesions and restricted diffusion on magnetic resonance imaging are characteristic features of the central nervous system phenotype of CMTX1.

  16. Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B

    NARCIS (Netherlands)

    van Doormaal, Tristan P C; van Ruissen, Fred; Miller, Kai J; Hoogendijk, Jessica E

    2016-01-01

    Two siblings with Charcot-Marie-Tooth (CMT) 1B due to a c.517G>C (p.Gly173Arg) mutation in the MPZ gene both developed an acute cauda syndrome with unbearable back pain radiating to both legs, progressive muscle weakness of the legs, and saddle hypesthesia with fecal and urinary incontinence. MRI

  17. CHARCOT-MARIE-TOOTH DISEASE

    Directory of Open Access Journals (Sweden)

    Lea Leonardis

    2003-09-01

    Full Text Available Background. Charcot-Marie-Tooth (CMT disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic studies. CMT is classified as demyelinative and axonal type and distal motor neuronopathy.Conclusions. CMT can be of autosomal dominant, recessive and X-linked inheritance. The most frequent form of CMT is the result of the dominantly inherited duplication of chromosome 17p11.2 and is marked as CMT1A. The same group involves also rare patients with point mutation in the peripheral myelin protein-22 gene. CMT1B is associated with point mutations in protein zero gene. CMT1C is linked to chromosome 16p13.1–12.3. Patients with point mutations in early growth response 2 gene (EGR2 are included in group CMT1D. The disease can be also inhereted X-linked (CMTX with the mutations in connexin-32 gene. In autosomal recessive inherited demyelinating polyneuropathies (CMT4, mutations are found in the myotubularin-related protein-2 (CMT4B, N-myc downstream-regulated gene 1 (CMT4D, EGR2 (CMT4E, and in the periaksin (CMT4F genes. In axonal inherited neuropathy, mutations are found in KIF1beta (CMT2A and in light neurofilament (CMT2E genes, other forms map to different chromosomal loci (CMT2B, CMT2D, CMT2F. Some suggestions for the diagnostic procedures of patients with CMT are given.

  18. Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    Helle Høyer

    2015-01-01

    Full Text Available Copy number variations (CNVs are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population-based sample of Charcot-Marie-Tooth (CMT families. The 81 CMT families had previously been screened for the PMP22 duplication and point mutations in 51 peripheral neuropathy genes, and a genetic cause was identified in 37 CMT families (46%. Index patients from the 44 CMT families with an unknown genetic diagnosis were analysed by whole-genome array comparative genomic hybridization to investigate the entire genome for larger CNVs and multiplex ligation-dependent probe amplification to detect smaller intragenomic CNVs in MFN2 and MPZ. One patient had the pathogenic PMP22 duplication not detected by previous methods. Three patients had potentially pathogenic CNVs in the CNTNAP2, LAMA2, or SEMA5A, that is, genes related to neuromuscular or neurodevelopmental disease. Genotype and phenotype correlation indicated likely pathogenicity for the LAMA2 CNV, whereas the CNTNAP2 and SEMA5A CNVs remained potentially pathogenic. Except the PMP22 duplication, disease causing CNVs are rare but may cause CMT in about 1% (95% CI 0–7% of the Norwegian CMT families.

  19. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

    LENUS (Irish Health Repository)

    Murphy, Sinéad M

    2011-09-01

    The Charcot-Marie-Tooth neuropathy score (CMTNS) is a reliable and valid composite score comprising symptoms, signs, and neurophysiological tests, which has been used in natural history studies of CMT1A and CMT1X and as an outcome measure in treatment trials of CMT1A. Following an international workshop on outcome measures in Charcot-Marie-Tooth disease (CMT), the CMTNS was modified to attempt to reduce floor and ceiling effects and to standardize patient assessment, aiming to improve its sensitivity for detecting change over time and the effect of an intervention. After agreeing on the modifications made to the CMTNS (CMTNS2), three examiners evaluated 16 patients to determine inter-rater reliability; one examiner evaluated 18 patients twice within 8 weeks to determine intra-rater reliability. Three examiners evaluated 63 patients using the CMTNS and the CMTNS2 to determine how the modifications altered scoring. For inter- and intra-rater reliability, intra-class correlation coefficients (ICCs) were ≥0.96 for the CMT symptom score and the CMT examination score. There were small but significant differences in some of the individual components of the CMTNS compared with the CMTNS2, mainly in the components that had been modified the most. A longitudinal study is in progress to determine whether the CMTNS2 is more sensitive than the CMTNS for detecting change over time.

  20. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.

    Science.gov (United States)

    Timmerman, Vincent; Clowes, Virginia E; Reid, Evan

    2013-08-01

    In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a

    NARCIS (Netherlands)

    Hensels, G. W.; Janssen, E. A.; Hoogendijk, J. E.; Valentijn, L. J.; Baas, F.; Bolhuis, P. A.

    1993-01-01

    Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within

  2. A Rare Case of Charcot-Mari-Tooth Disease Type 2S in a 20-year-old Man

    Directory of Open Access Journals (Sweden)

    Natalia A. Shnayder

    2017-12-01

    Full Text Available Charcot-Marie-Tooth disease type 2 (CMT2S is rare form of Charcot-Marie-Tooth disease (CMT that is characterized by a mutation in the IGHMBP2 gene. This gene encodes a helicase superfamily member that binds a specific DNA sequence from the region of the immunoglobulin mu chain switch. Mutation of this gene leads to spinal muscle atrophy with respiratory distress type 1 and CMT2S. This case report presents a 20-year-old male with genetically confirmed CMT2S having clinical respiratory involvement and symmetrically involved lower extremities. DNA sequencing revealed a previously unknown heterozygous mutation in the exone 2 of the IGHMBP2 gene leading to the replacement of the amino acid in the 46 position of the protein (chr11q13.3: 68673587 G>C. These atypical features widen the clinical spectrum of CMT2S. In describing this clinical case, we also improve diagnostic management and try to increase the alertness of various doctors towards neuromuscular diseases, including CMT.

  3. The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease

    NARCIS (Netherlands)

    Meggouh, F.; Benomar, A.; Rouger, H.; Tardieu, S.; Birouk, N.; Tassin, J.; Barhoumi, C.; Yahyaoui, M.; Chkili, T.; Brice, A.; LeGuern, E.

    1998-01-01

    X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified

  4. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

    NARCIS (Netherlands)

    van Paassen, Barbara W.; van der Kooi, Anneke J.; van Spaendonck-Zwarts, Karin Y.; Verhamme, Camiel; Baas, Frank; de Visser, Marianne

    2014-01-01

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is

  5. The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study

    NARCIS (Netherlands)

    Verhamme, Camiel; van Schaik, Ivo N.; Koelman, Johannes H. T. M.; de Haan, Rob J.; de Visser, Marianne

    2009-01-01

    Charcot-Marie-Tooth type 1A is the most prevalent hereditary demyelinating polyneuropathy. The aim of this study was to investigate the natural history of the disease in adults during a 5-year follow-up and to compare the changes over time with those found in normal ageing. In a cohort of 46 adult

  6. Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking

    OpenAIRE

    Lee, Samuel M.; Chin, Lih-Shen; Li, Lian

    2012-01-01

    Mutations in small integral membrane protein of lysosome/late endosome (SIMPLE) cause autosomal dominant, Charcot-Marie-Tooth disease (CMT) type 1C. The cellular function of SIMPLE is unknown and the pathogenic mechanism of SIMPLE mutations remains elusive. Here, we report that SIMPLE interacted and colocalized with endosomal sorting complex required for transport (ESCRT) components STAM1, Hrs, and TSG101 on early endosomes and functioned with the ESCRT machinery in the control of endosome-to...

  7. Hand weakness in Charcot-Marie-Tooth disease 1X.

    LENUS (Irish Health Repository)

    Arthur-Farraj, P J

    2012-07-01

    There have been suggestions from previous studies that patients with Charcot-Marie-Tooth disease (CMT) have weaker dominant hand muscles. Since all studies to date have included a heterogeneous group of CMT patients we decided to analyse hand strength in 43 patients with CMT1X. We recorded handedness and the MRC scores for the first dorsal interosseous and abductor pollicis brevis muscles, median and ulnar nerve compound motor action potentials and conduction velocities in dominant and non-dominant hands. Twenty-two CMT1X patients (51%) had a weaker dominant hand; none had a stronger dominant hand. Mean MRC scores were significantly higher for first dorsal interosseous and abductor pollicis brevis in non-dominant hands compared to dominant hands. Median nerve compound motor action potentials were significantly reduced in dominant compared to non-dominant hands. We conclude that the dominant hand is weaker than the non-dominant hand in patients with CMT1X.

  8. Hereditaer motorisk sensorisk neuropati (Charcot-Marie-Tooths sygdom). Molekyloergenetiske aspekter

    DEFF Research Database (Denmark)

    Hertz, M J; Børglum, Anders; Brandt, C A

    1995-01-01

    Hereditary motor and sensory neuropathy (HMSN) comprises a heterogenous group of peripheral neuropathies which are classified on the basis of symptoms, mode of inheritance and electrophysiological and neuropathological investigations. HMSN type I, or Charcot-Marie-Tooth disease (CMT) type 1...... be detected by DNA-analysis. The genes for HMSN type Ia, Ib and an X-linked dominant form have been identified as PMP22, MPZ and GJB1 respectively. Analysis for these molecular defects will become important in the differential diagnosis of peripheral neuropathies and will surely prove invaluable......, is a hypertrophic and demyelinating neuropathy with reduced nerve conduction velocity, and most often with dominant inheritance. HMSN type II (CMT type 2), the neuronal or axonal form, is dominantly inherited with normal or only moderately reduced nerve conduction velocity. HMSN type III, also called Déjérine...

  9. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

    NARCIS (Netherlands)

    Gabreëls-Festen, A. A.; Bolhuis, P. A.; Hoogendijk, J. E.; Valentijn, L. J.; Eshuis, E. J.; Gabreëls, F. J.

    1995-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin

  10. Diagnóstico clínico de la enfermedad Charcot-Marie-Tooth

    Directory of Open Access Journals (Sweden)

    Yuselis Pérez Cid

    2014-08-01

    Full Text Available La enfermedad de Charcot-Marie-Tooth es un trastorno polineuropático genéticamente heterogéneo, en la que se han identificado más de 30 genes responsables; sin embargo, el diagnóstico es posible establecerlo sobre las bases de los estudios clínicos y electrofisiológicos. Constituye un reto en la práctica médica de los países del tercer mundo contar con la realización sistemática de estudios genéticos moleculares de las neuropatías hereditarias, por lo que en este trabajo se enfatiza en los estudios clínico-electrofisiológicos para la clasificación de la CMT

  11. Sleep disorders in Charcot-Marie-Tooth disease type 1.

    Science.gov (United States)

    Boentert, Matthias; Knop, Katharina; Schuhmacher, Christine; Gess, Burkhard; Okegwo, Angelika; Young, Peter

    2014-03-01

    Obstructive sleep apnoea (OSA) and restless legs syndrome (RLS) have been reported in Charcot-Marie-Tooth disease (CMT) type 1A and axonal subtypes of CMT, respectively. The aim of this case-control study was to investigate both prevalence and severity of OSA, RLS and periodic limb movements in sleep (PLMS) in adult patients with genetically proven CMT1. 61 patients with CMT1 and 61 insomnic control subjects were matched for age, sex, and Body Mass Index. Neurological disability in patients with CMT was assessed using the Functional Disability Scale (FDS). RLS diagnosis was based on a screening questionnaire and structured clinical interviews. All participants underwent overnight polysomnography. OSA was present in 37.7% of patients with CMT1 and 4.9% of controls (psleep quality. In addition to known risk factors, CMT may predispose to OSA. RLS is highly prevalent not only in axonal subtypes of CMT but also in primarily demyelinating subforms of CMT. PLMS are common in CMT1, but do not significantly impair sleep quality.

  12. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.

    Science.gov (United States)

    Nouioua, Sonia; Hamadouche, Tarik; Funalot, Benoit; Bernard, Rafaëlle; Bellatache, Nora; Bouderba, Radia; Grid, Djamel; Assami, Salima; Benhassine, Traki; Levy, Nicolas; Vallat, Jean-Michel; Tazir, Meriem

    2011-08-01

    Autosomal recessive Charcot-Marie-Tooth diseases, relatively common in Algeria due to high prevalence of consanguineous marriages, are clinically and genetically heterogeneous. We report on two consanguineous families with demyelinating autosomal recessive Charcot-Marie-Tooth disease (CMT4) associated with novel homozygous mutations in the MTMR2 gene, c.331dupA (p.Arg111LysfsX24) and PRX gene, c.1090C>T (p.Arg364X) respectively, and peculiar clinical phenotypes. The three patients with MTMR2 mutations (CMT4B1 family) had a typical phenotype of severe early onset motor and sensory neuropathy with typical focally folded myelin on nerve biopsy. Associated clinical features included vocal cord paresis, prominent chest deformities and claw hands. Contrasting with the classical presentation of CMT4F (early-onset Dejerine-Sottas phenotype), the four patients with PRX mutations (CMT4F family) had essentially a late age of onset and a protracted and relatively benign evolution, although they presented marked spine deformities. These observations broaden the spectrum of clinical phenotypes associated with these two CMT4 forms. Copyright © 2011 Elsevier B.V. All rights reserved.

  13. Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

    OpenAIRE

    Koutsis, Georgios; Karadima, Georgia; Floroskoufi, Paraskewi; Raftopoulou, Maria; Panas, Marios

    2015-01-01

    We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on bra...

  14. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

    LENUS (Irish Health Repository)

    Pitceathly, Robert D S

    2012-09-11

    Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations are not generally considered within the differential diagnosis of patients with uncomplicated inherited neuropathy, despite the essential requirement of ATP for axonal function. We identified the mtDNA mutation m.9185T>C in MT-ATP6, encoding the ATP6 subunit of the mitochondrial ATP synthase (OXPHOS complex V), at homoplasmic levels in a family with mitochondrial disease in whom a severe motor axonal neuropathy was a striking feature. This led us to hypothesize that mutations in the 2 mtDNA complex V subunit encoding genes, MT-ATP6 and MT-ATP8, might be an unrecognized cause of isolated axonal CMT and distal hereditary motor neuropathy (dHMN).

  15. Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.

    Science.gov (United States)

    Sadjadi, Reza; Reilly, Mary M; Shy, Michael E; Pareyson, Davide; Laura, Matilde; Murphy, Sinead; Feely, Shawna M E; Grider, Tiffany; Bacon, Chelsea; Piscosquito, Giuseppe; Calabrese, Daniela; Burns, Ted M

    2014-09-01

    Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2) is a validated clinical outcome measure developed for use in clinical trials to monitor disease impairment and progression in affected CMT patients. Currently, all items of CMTNSv2 have identical contribution to the total score. We used Rasch analysis to further explore psychometric properties of CMTNSv2, and in particular, category response functioning, and their weight on the overall disease progression. Weighted category responses represent a more accurate estimate of actual values measuring disease severity and therefore could potentially be used in improving the current version. © 2014 Peripheral Nerve Society.

  16. Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X

    DEFF Research Database (Denmark)

    Knak, Kirsten L; Andersen, Linda K; Vissing, John

    2017-01-01

    Background: Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy associated with impaired walking capacity. Some patients are too weak in the lower extremity muscles to walk at gravity with sufficient intensity or duration to gain benefit. Aim: The aim was to investigate the effect...... of aerobic anti-gravity exercise in weak patients with CMT 1A and X. Methods: Five adult patients performed moderate-intensity aerobic anti-gravity exercise 3/week for 10 weeks. Results: There was a significant positive difference in Berg balance scale and postural stability test between test occasions...

  17. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group

    NARCIS (Netherlands)

    Raeymaekers, P.; Timmerman, V.; Nelis, E.; de Jonghe, P.; Hoogendijk, J. E.; Baas, F.; Barker, D. F.; Martin, J. J.; de Visser, M.; Bolhuis, P. A.

    1991-01-01

    Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system characterized by progressive weakness and atrophy of distal limb muscles. In the majority of HMSN I families, linkage studies

  18. Causes of Charcot-Marie-Tooth Disease (CMT)

    Science.gov (United States)

    ... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

  19. Amiotrofia neuro-medular de Charcot-Marie-Tooth associada a artrogripose multipla congenita: registro de um caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    James Pitagoras de Mattos

    1982-09-01

    Full Text Available Os autores registram a associação da amiotrofia neuro-medular de Charcot-Marie-Tooth com artrogripose múltipla congênita. Mostram as associações com as duas condições em apreço na literatura, assim como acrescentam outras alterações observadas nos diversos exames radiológicos realizados.

  20. Anesthetic and Surgical Management of a Bilateral Mandible Fracture in a Patient With Charcot-Marie-Tooth Disease: A Case Report.

    Science.gov (United States)

    Smith, Jeffrey D; Minkin, Patton; Lindsey, Sean; Bovino, Brian

    2015-10-01

    This report describes the case of a 74-year-old man who had been diagnosed with Charcot-Marie-Tooth disease as a child. Because the patient had serious motor and sensory neuropathy associated with his disease, special anesthetic and surgical recommendations had to be considered before he underwent general anesthesia to repair his mandibular fracture. Repair of the mandible was performed under general anesthesia with a nasal endotracheal tube and the use of the nondepolarizing muscle relaxant rocuronium. Open reduction and internal fixation through extraoral approaches were used to fixate the displaced right subcondylar and symphyseal fractures. A closed reduction approach using maxillary fixation screws and a mandibular arch bar with light elastic guidance was used to treat a nondisplaced fracture of the left mandibular ramus. Rigid fixation allowed for avoidance of a period of intermaxillary fixation. General anesthesia and muscle relaxant were administered without complication. Treatment of bilateral mandibular fractures with combined open and closed approaches resulted in restoration of premorbid occlusion and masticatory function. Repair of mandibular fractures under general anesthesia appears to be a safe procedure in patients with Charcot-Marie-Tooth disease when appropriate anesthetic and surgical methods are used. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  1. Exercise training improves autonomic profiles in patients with Charcot-Marie-Tooth disease.

    Science.gov (United States)

    El Mhandi, Lhassan; Pichot, Vincent; Calmels, Paul; Gautheron, Vincent; Roche, Frédéric; Féasson, Léonard

    2011-11-01

    The effect of an interval exercise training (ITE) program on heart rate variability (HRV) was studied in 8 patients with Charcot-Marie-Tooth (CMT) disease and 8 healthy controls. At baseline, all subjects underwent ambulatory 24-hour Holter electrocardiographic (ECG) monitoring to evaluate HRV. HRV analysis was repeated on CMT patients after they completed a 24-week ITE program on a cycle ergometer. Before exercise, all HRV indices were lower in patients compared with controls, and the difference reached statistical significance for pNN50 (percent of differences between adjacent R-R intervals exceeding 50 ms). After ITE, time- and frequency-domain indices were significantly improved, particularly at night (+8% mean R-R interval, +95% pNN50, 52% reduction in low/high-frequency ratio). We observed significant increases in some of the time and frequency parameters, and values sometimes exceeded those of controls at baseline. Our results suggest that ITE improves HRV modulation in CMT patients by enhancing parasympathetic activity. Copyright © 2011 Wiley Periodicals, Inc.

  2. X inactivation in females with X-linked Charcot-Marie-Tooth disease.

    LENUS (Irish Health Repository)

    Murphy, Sinéad M

    2012-07-01

    X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inactivation pattern in females with CMT1X and correlate this with phenotype using the CMT examination score to determine whether the X inactivation pattern accounted for the variable phenotype in females with CMT1X. We determined X inactivation pattern in 67 females with CMT1X and 24 controls using the androgen receptor assay. We were able to determine which X chromosome carried the GJB1 mutation in 30 females. There was no difference in X inactivation pattern between patients and controls. In addition, there was no correlation between X inactivation pattern in blood and phenotype. A possible explanation for these findings is that the X inactivation pattern in Schwann cells rather than in blood may explain the variable phenotype in females with CMT1X.

  3. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    NARCIS (Netherlands)

    Synofzik, Matthis; Müller Vom Hagen, Jennifer; Haack, Tobias B.; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B.; van Kuilenburg, André B. P.; de Brouwer, Arjan P. M.; Schöls, Ludger

    2014-01-01

    X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been

  4. Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

    Directory of Open Access Journals (Sweden)

    Georgios Koutsis

    2015-01-01

    Full Text Available We report a patient with relapsing remitting multiple sclerosis (MS and X-linked Charcot-Marie-Tooth disease (CMTX, carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars. Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis.

  5. Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement.

    Science.gov (United States)

    Koutsis, Georgios; Karadima, Georgia; Floroskoufi, Paraskewi; Raftopoulou, Maria; Panas, Marios

    2015-01-01

    We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis.

  6. Immediate effects of using ankle-foot orthoses in the kinematics of gait and in the balance reactions in Charcot-Marie-Tooth disease

    OpenAIRE

    Pereira, Rouse Barbosa; Felício, Lílian Ramiro; Ferreira, Arthur de Sá; Menezes, Sara Lúcia de; Freitas, Marcos Raimundo Gomes de; Orsini, Marco

    2014-01-01

    The Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy with progressive distal muscle atrophy and weakness, mainly in lower limbs, that evolves limiting the gait and balance. The objective of the study was to analyse the immediate effects of using Ankle-Foot Orthosis (AFO) in the gait's kinematics and balance in patients with CMT. Nine individuals were evaluated by Tinetti scales and Dynamic Gait Index (DGI) and gait's kinematics parameters through the motion capturing sy...

  7. A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.

    Science.gov (United States)

    Bellone, Emilia; Rodolico, Carmelo; Toscano, Antonio; Di Maria, Emilio; Cassandrini, Denise; Pizzuti, Antonio; Pigullo, Simona; Mazzeo, Anna; Macaione, Vincenzo; Girlanda, Paolo; Vita, Giuseppe; Ajmar, Franco; Mandich, Paola

    2002-03-01

    Sensory loss and ulcero-mutilating features have been observed in hereditary sensory neuropathy type I and in hereditary motor and sensory neuropathy type IIB, also referred as Charcot-Marie-Tooth disease type 2B. To date two loci associated with ulcero-mutilating neuropathy have been described: CMT2B at 3q13-q22 and HSN I at 9q22.1-q22.3. We performed linkage analysis with chromosomal markers representing the hereditary sensory neuropathy type I and Charcot-Marie-Tooth disease type 2B loci on an Italian family with a severe distal sensory loss leading to an ulcero-mutilating peripheral neuropathy. Negative likelihood-of-odds scores excluded any evidence of linkage to both chromosome 3q13 and chromosome 9q22 markers, confirming the genetic heterogeneity of this clinical entity and the presence of a third locus responsible for ulcero-mutilating neuropathies.

  8. Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

    OpenAIRE

    Bogdanik, Laurent P.; Sleigh, James N.; Tian, Cong; Samuels, Mark E.; Bedard, Karen; Seburn, Kevin L.; Burgess, Robert W.

    2013-01-01

    SUMMARY Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. Several CMT gene products function in endosomal sorting and trafficking to the lysosome, suggesting that defects in this cellular pathway might present a common pathogenic mechanism for these conditions. LRSAM1 is an E3 ubiquitin ligase that is implicated in this process, and mutations in LRSAM1 have rece...

  9. Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice.

    Science.gov (United States)

    D'Antonio, Maurizio; Musner, Nicolò; Scapin, Cristina; Ungaro, Daniela; Del Carro, Ubaldo; Ron, David; Feltri, M Laura; Wrabetz, Lawrence

    2013-04-08

    P0 glycoprotein is an abundant product of terminal differentiation in myelinating Schwann cells. The mutant P0S63del causes Charcot-Marie-Tooth 1B neuropathy in humans, and a very similar demyelinating neuropathy in transgenic mice. P0S63del is retained in the endoplasmic reticulum of Schwann cells, where it promotes unfolded protein stress and elicits an unfolded protein response (UPR) associated with translational attenuation. Ablation of Chop, a UPR mediator, from S63del mice completely rescues their motor deficit and reduces active demyelination by half. Here, we show that Gadd34 is a detrimental effector of CHOP that reactivates translation too aggressively in myelinating Schwann cells. Genetic or pharmacological limitation of Gadd34 function moderates translational reactivation, improves myelination in S63del nerves, and reduces accumulation of P0S63del in the ER. Resetting translational homeostasis may provide a therapeutic strategy in tissues impaired by misfolded proteins that are synthesized during terminal differentiation.

  10. A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.

    Science.gov (United States)

    Sabblah, Thywill T; Nandini, Swaran; Ledray, Aaron P; Pasos, Julio; Calderon, Jami L Conley; Love, Rachal; King, Linda E; King, Stephen J

    2018-01-29

    Charcot-Marie-Tooth disease (CMT) is a peripheral neuromuscular disorder in which axonal degeneration causes progressive loss of motor and sensory nerve function. The loss of motor nerve function leads to distal muscle weakness and atrophy, resulting in gait problems and difficulties with walking, running, and balance. A mutation in the cytoplasmic dynein heavy chain (DHC) gene was discovered to cause an autosomal dominant form of the disease designated Charcot-Marie-Tooth type 2 O disease (CMT2O) in 2011. The mutation is a single amino acid change of histidine into arginine at amino acid 306 (H306R) in DHC. In order to understand the onset and progression of CMT2, we generated a knock-in mouse carrying the corresponding CMT2O mutation (H304R/+). We examined H304R/+ mouse cohorts in a 12-month longitudinal study of grip strength, tail suspension, and rotarod assays. H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2. Analysis of the gastrocnemius of H304R/+ male mice showed prominent defects in neuromuscular junction (NMJ) morphology including reduced size, branching, and complexity. Based on these results, the H304R/+ mouse will be an important model for uncovering functions of dynein in complex organisms, especially related to CMT onset and progression.

  11. Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Aghajan, Yasmin; Yoon, Janet M; Crawford, John Ross

    2017-04-24

    Severe neuropathy is a known adverse effect of vincristine in patients with Charcot-Marie-Tooth disease (CMT). We present the case of a 16-year-old girl with anaplastic medulloblastoma treated with gross total resection and high-dose craniospinal radiation with adjuvant vincristine chemotherapy who developed acute-onset severe quadriplegia and vocal cord paralysis. Vincristine and radiation therapy were discontinued. Although her neuropathy slowly improved over several weeks, she developed metastatic extraneural medulloblastoma and died 5 months after diagnosis. Subsequent genetic testing revealed previously asymptomatic and undiagnosed CMT1A. Our case highlights the importance of early recognition of acute vincristine neurotoxicity that should raise suspicion of an underlying hereditary neuropathy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.

    LENUS (Irish Health Repository)

    Murphy, Sinéad M

    2011-03-01

    We report a patient with Charcot-Marie-Tooth disease (CMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils. Conduction block is unusual in inherited neuropathies, while pupil abnormalities are recognised to occur in CMT especially due to MPZ mutations. This case highlights that patchy demyelinating neuropathy with conduction block may occur in p.Ile112Thr MPZ mutations. Involvement of the pupils, as in this case, may be a pointer towards a genetic rather than inflammatory cause of neuropathy.

  13. [Genetic study of the autosomal recessive form of Charcot-Marie-Tooth in an Algerian family].

    Science.gov (United States)

    Hamadouche, T; Tazir-Melboucy, M; Benhassine, T

    1998-01-01

    Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy characterized by muscular atrophy and progressive sensitive alterations that affect limbs. The CMT is one of the most heterogenous diseases, clinically as well as genetically. At least twelve loci are responsible for the CMT phenotype, four of them for the autosomal recessive form. The aim of our work was to determinate the implication/exclusion of these four loci in an Algerian family by linkage analysis using microsatellites markers. We have tested the four loci on 8q13-21.1 (CMT4A), 11q23 (CMT4B), 5q23-33 (CMT4C) 8q24 (CMTAR). The haplotype reconstruction allowed us to exclude all the loci in this family, suggesting that the locus (gene) responsible for this form of CMT is localized elsewhere in the genome, thus providing an other observation of the great heterogeneity of the CMT, particularly autosomal recessive.

  14. Neural and Molecular Features on Charcot-Marie-Tooth Disease Plasticity and Therapy

    Directory of Open Access Journals (Sweden)

    Paula Juárez

    2012-01-01

    Full Text Available In the peripheral nervous system disorders plasticity is related to changes on the axon and Schwann cell biology, and the synaptic formations and connections, which could be also a focus for therapeutic research. Charcot-Marie-Tooth disease (CMT represents a large group of inherited peripheral neuropathies that involve mainly both motor and sensory nerves and induce muscular atrophy and weakness. Genetic analysis has identified several pathways and molecular mechanisms involving myelin structure and proper nerve myelination, transcriptional regulation, protein turnover, vesicle trafficking, axonal transport and mitochondrial dynamics. These pathogenic mechanisms affect the continuous signaling and dialogue between the Schwann cell and the axon, having as final result the loss of myelin and nerve maintenance; however, some late onset axonal CMT neuropathies are a consequence of Schwann cell specific changes not affecting myelin. Comprehension of molecular pathways involved in Schwann cell-axonal interactions is likely not only to increase the understanding of nerve biology but also to identify the molecular targets and cell pathways to design novel therapeutic approaches for inherited neuropathies but also for most common peripheral neuropathies. These approaches should improve the plasticity of the synaptic connections at the neuromuscular junction and regenerate cell viability based on improving myelin and axon interaction.

  15. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    Directory of Open Access Journals (Sweden)

    A-ping Sun

    2015-01-01

    Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

  16. Irmandade afetada pela atrofia muscular peroneal de Charcot-Marie-Tooth com possível variante do fenômeno da antecipação

    Directory of Open Access Journals (Sweden)

    Aguinaldo Gonçalves

    1977-06-01

    Full Text Available Considerando-se a peculiaridade genética da atrofia peroneal de Charcot-Marie-Tooth, é feita a descrição clínica de família com três irmãos afetados, com idade de aparecimento progressivamente antecipada, refletindo possível variante do fenômeno da antecipação, condição inusitada na literatura, não só para esta doença, mas também, de modo geral, em Genética Humana.

  17. Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease

    Science.gov (United States)

    Madorsky, Irina; Opalach, Katherine; Waber, Amanda; Verrier, Jonathan D.; Solmo, Chelsea; Foster, Thomas; Dunn, William A; Notterpek, Lucia

    2009-01-01

    Charcot-Marie-Tooth type 1A (CMT1A) neuropathies linked to the misexpression of peripheral myelin protein 22 (PMP22) are progressive demyelinating disorders of the peripheral nervous system. In this study we asked whether dietary restriction by intermittent fasting (IF) could alleviate the neuropathic phenotype in the Trembler J (TrJ) mouse model of CMT1A. Our results show that neuropathic mice kept on a five month long IF regimen had improved locomotor performance compared to ad libitum (AL) fed littermates. The functional benefits of this dietary intervention are associated with an increased expression of myelin proteins combined with a thicker myelin sheath, less redundant basal lamina, and a reduction in aberrant Schwann cell proliferation. These morphological improvements are accompanied by a decrease in PMP22 protein aggregates, and enhanced expression of cytosolic chaperones and constituents of the autophagy-lysosomal pathway. These results indicate that dietary restriction is beneficial for peripheral nerve function in TrJ neuropathic mice, as it promotes the maintenance of locomotor performance. PMID:19320048

  18. Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Madorsky, Irina; Opalach, Katherine; Waber, Amanda; Verrier, Jonathan D; Solmo, Chelsea; Foster, Thomas; Dunn, William A; Notterpek, Lucia

    2009-04-01

    Charcot-Marie-Tooth type 1A (CMT1A) neuropathies linked to the misexpression of peripheral myelin protein 22 (PMP22) are progressive demyelinating disorders of the peripheral nervous system. In this study we asked whether dietary restriction by intermittent fasting (IF) could alleviate the neuropathic phenotype in the Trembler J (TrJ) mouse model of CMT1A. Our results show that neuropathic mice kept on a five month long IF regimen had improved locomotor performance compared to ad libitum (AL) fed littermates. The functional benefits of this dietary intervention are associated with an increased expression of myelin proteins combined with a thicker myelin sheath, less redundant basal lamina, and a reduction in aberrant Schwann cell proliferation. These morphological improvements are accompanied by a decrease in PMP22 protein aggregates, and enhanced expression of cytosolic chaperones and constituents of the autophagy-lysosomal pathway. These results indicate that dietary restriction is beneficial for peripheral nerve function in TrJ neuropathic mice, as it promotes the maintenance of locomotor performance.

  19. Balance and muscle power of children with Charcot-Marie-Tooth.

    Science.gov (United States)

    Silva, Tais R; Testa, Amanda; Baptista, Cyntia R J A; Marques, Wilson; Mattiello-Sverzut, Ana C

    2014-01-01

    In certain diseases, functional constraints establish a greater relationship with muscle power than muscle strength. However, in hereditary peripheral polyneuropathies, no such relationship was found in the literature. In children with Charcot-Marie-Tooth (CMT), to identify the impact of muscle strength and range of movement on the static/dynamic balance and standing long jump based on quantitative and functional variables. The study analyzed 19 participants aged between 6 and 16 years, of both genders and with clinical diagnoses of CMT of different subtypes. Anthropometric data, muscle strength of the lower limbs (hand-held dynamometer), ankle and knee range of movement, balance (Pediatric Balance Scale) and standing long jump distance were obtained by standardized procedures. For the statistical analysis, Pearson and Spearman correlation coefficients were used. There was a strong positive correlation between balance and the muscle strength of the right plantar flexors (r=0.61) and dorsiflexors (r=0.59) and a moderate correlation between balance and the muscle strength of inversion (r=0.41) and eversion of the right foot (r=0.44). For the long jump and range of movement, there was a weak positive correlation with right and left plantar flexion (r=0.20 and r=0.12, respectively) and left popliteal angle (r=0.25), and a poor negative correlation with left dorsiflexion (r=-0.15). The data on the patients analyzed suggests that the maintenance of distal muscle strength favors performance during balance tasks, while limitations in the range of movement of the legs seem not to be enough to influence the performance of the horizontal long jump.

  20. Progression of motor axon dysfunction and ectopic Na(v)1.8 expression in a mouse model of Charcot-Marie-Tooth disease 1B

    DEFF Research Database (Denmark)

    Rosberg, Mette R.; Alvarez Herrero, Susana; Klein, Dennis

    2016-01-01

    Mice heterozygously deficient for the myelin protein P0 gene (P0+/-) develop a slowly progressing neuropathy modeling demyelinating Charcot-Marie-Tooth disease (CMT1B). The aim of the study was to investigate the long-term progression of motor dysfunction in P0+/- mice at 3, 7, 12 and 20months...... pharmacologic block of NaV1.8 in P0+/-. Mathematical modeling indicated an association of altered passive cable properties with a depolarizing shift in resting membrane potential and increase in the persistent Na(+) current in P0+/-. Our data suggest that ectopic NaV1.8 expression precipitates depolarizing...

  1. Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva en Palmares, Costa Rica

    Directory of Open Access Journals (Sweden)

    Melissa Rojas-Araya

    2009-11-01

    Full Text Available La enfermedad de Charcot-Marie-Tooth constituye elgrupo de neuropatías periféricas hereditarias más común a nivel mundial. Una familia con 18 afectados del cantón de Palmares (Alajuela, Costa Rica con una neuropatía de tipo axonal y herencia autosómica recesiva, permitió localizar el gen responsable en la región 19q13.33. Posteriormente se identificó la mutación causante en el gen MED25. El presente estudio determinó la frecuencia del alelo mutante, así como la distribución geográfica de este alelo. En una muestra al azar de 103 individuos se encontraron seis individuos heteroigotas para la mutación, distribuidos por todo el cantón. No se encontró ninguna persona en estado homocigota para este alelo. No hallamos algunacaracterística clínica que difiera significativamente entre los individuos homocigotos silvestres y los heterocigotos para la mutación. El 5.83% de la población es heterocigota y la frecuencia del alelo Ala335Val es de 0.029, seis veces mayor que en una muestra de toda la población costarricense. Por esta razón se recomienda un análisis molecular de portadores con el fin de alertar sobre la posibilidad de aparición de más casos en el cantón.Frecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica. The Charcot-Marie-Tooth disease constitutes is among the most frequent hereditary peripheral neuropathies world-wide. We identified a family from Palmares (Alajuela, Costa Rica with 18 affected members. Their neuropathy is axonal, with an autosomal recessive pattern of inheritance; the responsible gene is at the 19q13.33 chromosomal region. Later the mutation was identified in gene MED25. We studied the frequency and geographic distribution of the mutant allele. In a random sample of 103 individuals, six were heterozygote and were widely distributed in Palmares. There was no person in homozigote state for the mutant allele. Clinical characteristics do

  2. Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

    Directory of Open Access Journals (Sweden)

    Mélodie Aubart

    Full Text Available BACKGROUND: Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined. METHODS: All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood tests, total body computed tomography, joint X-rays. Electroneuromyography was performed in selected cases. RESULTS: Thirty-four SMAD3 gene mutation carriers coming to our centre were identified and 16 relatives were considered affected because of aortic surgery or sudden death (total 50 subjects. Aortic disease was present in 72%, complicated with aortic dissection, surgery or sudden death in 56% at a mean age of 45 years. Aneurysm or tortuosity of the neck arteries was present in 78%, other arteries were affected in 44%, including dissection of coronary artery. Overall, 95% of mutation carriers displayed either aortic or extra-aortic arterial disease. Acrocyanosis was also present in the majority of patients. Osteoarticular manifestations were recorded in all patients. Joint involvement could be severe requiring surgery in young patients, of unusual localization such as tarsus or shoulder, or mimicking crystalline arthropathy with fibrocartilage calcifications. Sixty eight percent of patients displayed neurological symptoms, and 9 suffered peripheral neuropathy. Electroneuromyography revealed an axonal motor and sensory neuropathy in 3 different families, very evocative of type II Charcot-Marie-Tooth (CMT2 disease, although none had mutations in the known CMT2 genes. Autoimmune features including Sjogren's disease, rheumatoid arthritis, Hashimoto's disease, or isolated autoantibodies- were found in 36% of patients. INTERPRETATION: SMAD3 gene mutations are associated with aortic dilatation and osteoarthritis, but also autoimmunity and peripheral neuropathy which mimics type II

  3. Gait rehabilitation in a patient affected with Charcot-Marie-Tooth disease associated with pyramidal and cerebellar features and blindness.

    Science.gov (United States)

    Vinci, Paolo

    2003-05-01

    Charcot-Marie-Tooth (CMT) disease, an inherited neuropathy characterized by length-dependent degeneration of the motor and sensory nerve fibers with consequent distal muscle atrophy and sensory reduction, can be associated with symptoms and signs of involvement of the central nervous system and/or cranial nerves. We present a patient with relatively severe CMT, cerebellar ataxia, pyramidal involvement, and blindness due to Leber's hereditary optic neuropathy. The patient presented with poor standing and gait, with consequent severe disability. Factors responsible for the patient's functional impairment (plantarflexor failure, footdrop, foot rotation, knee flexor contracture, poor proprioception, cerebellar dysfunction, spastic paraparesis, blindness) were identified and addressed by a rehabilitation management, which included, as a main intervention, ankle stabilization by drop-foot boots instead of ankle-foot orthoses. Improved balance and independent ambulation resulted from rehabilitation.

  4. Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.

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    Padua, Luca; Coraci, Daniele; Lucchetta, Marta; Paolasso, Ilaria; Pazzaglia, Costanza; Granata, Giuseppe; Cacciavillani, Mario; Luigetti, Marco; Manganelli, Fiore; Pisciotta, Chiara; Piscosquito, Giuseppe; Pareyson, Davide; Briani, Chiara

    2018-01-01

    Nerve ultrasound in Charcot-Marie-Tooth (CMT) disease has focused mostly on the upper limbs. We performed an evaluation of a large cohort of CMT patients in which we sonographically characterized nerve abnormalities in different disease types, ages, and nerves. Seventy patients affected by different CMT types and hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated, assessing median, ulnar, fibular, tibial, and sural nerves bilaterally. Data were correlated with age. Nerve dimensions were correlated with CMT type, age, and nerve site. Nerves were larger in demyelinating than in axonal neuropathies. Nerve involvement was symmetric. CMT1 patients had larger nerves than did patients with other CMT types. Patients with HNPP showed enlargement at entrapment sites. Our study confirms the general symmetry of ultrasound nerve patterns in CMT. When compared with ultrasound studies of nerves of the upper limbs, evaluation of the lower limbs did not provide additional information. Muscle Nerve 57: E18-E23, 2018. © 2017 Wiley Periodicals, Inc.

  5. Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.

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    Tazir, Meriem; Hamadouche, Tarik; Nouioua, Sonia; Mathis, Stephane; Vallat, Jean-Michel

    2014-12-15

    Hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth (CMT) diseases are the most common degenerative disorders of the peripheral nervous system. However, the frequency of the different subtypes varies within distinct populations. Although more than seventy clinical and genetic forms are known to date, more than 80% of CMT patients in Western countries have genetic abnormalities associated with PMP22, MPZ, MFN2 and GJB1. Given the considerable genetic heterogeneity of CMT, we emphasize the interest of both clinical and pathological specific features such that focused genetic testing could be performed. In this regard, peripheral nerve lesions in GDAP1 mutations (AR CMT1A), such as mitochondrial abnormalities, have been newly demonstrated. Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we propose a simplified classification such as AR CMT1 (A, B, C …), and AR CMT2 for axonal forms. Also, we stress that next generation sequencing techniques, now considered to be the most efficient methods of genetic testing in CMT, will be helpful in molecular diagnosis and research of new genes involved. Finally, while no effective therapy is known to date, ongoing new therapeutic trials such as PXT3003 (a low dose combination of the three already approved drugs baclofen, naltrexone, and D-sorbitol) give hopes for potential curative treatment. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.

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    Kulshrestha, R; Burton-Jones, S; Antoniadi, T; Rogers, M; Jaunmuktane, Z; Brandner, S; Kiely, N; Manuel, R; Willis, T

    2017-08-01

    X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c.-5413 to approximately - c.-49. This matches the sequence of 32 nucleotides at positions c.*218-*249 in the 3'UTR downstream of the GJB1 gene. The deleted fragment included the entire P2 promoter region. The deletion segregated with the disease. To our knowledge a deletion of the P2 promoter alone as a cause of CMT has not been reported previously. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs

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    Eduardo Luis de Aquino Neves

    2011-06-01

    Full Text Available Charcot-Marie-Tooth (CMT disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1 or axonal (CMT2. OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.

  8. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.

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    Karadima, Georgia; Koutsis, Georgios; Raftopoulou, Maria; Floroskufi, Paraskewi; Karletidi, Karolina-Maria; Panas, Marios

    2014-06-15

    Charcot-Marie-Tooth (CMT) disease, the most common hereditary neuropathy, is clinically and genetically heterogeneous. X-linked CMT (CMTX) is usually caused by mutations in the gap junction protein b 1 gene (GJB1) coding for connexin 32 (Cx32). The clinical manifestations of CMTX are characterized by significant variability, with some patients exhibiting central nervous system (CNS) involvement. We report four novel mutations in GJB1, c.191G>A (p.Cys64Tyr), c.508G>T (p.Val170Phe), c.778A>G (p.Lys260Glu) and c.300C>G (p.His100Gln) identified in four unrelated Greek families. These mutations were characterized by variable phenotypic expression, including a family with the Roussy-Lévy syndrome, and three of them were associated with mild clinical CNS manifestations. Copyright © 2014. Published by Elsevier B.V.

  9. Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease.

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    Vinci, P; Gargiulo, P

    2008-03-01

    The aim of this study is to evaluate the compliance with ankle-foot orthoses (AFOs) in patients previously prescribed and affected with Charcot-Marie-Tooth disease (CMT). Twenty-five Italian patients (8 males 17 females; mean age: 41.6 years, range 16-54) with severe bilateral footdrop (leg-sole angle alpha >105 degrees ) alone or associated with other problems (rotation, plantarflexor failure, knee flexor failure) were examined by a physiatrist (with measurement of the leg-sole angle alpha' with their footwear) and interviewed by a psychologist. Only 5 patients (20%) used AFOs (3 prefabricated polypropylene AFOs, 2 custom-made short AFOs incorporated in high-top boots) with satisfactory functional results (alpha' <=94 degrees ; reported increased mobility and no more falls). The interview revealed that all patients had a bad relationship with their own body. The 3 subjects using prefabricated AFOs said that they hated them and one of them complained of pain. Patients not using AFOs justified their decision with statements such as: ''I am not yet ready to accept them'' (n=3) or ''I can still manage without them for a while'' (n=2) or both (n=15). Four patients had experienced pain during the trial, 2 had not found proper shoes to accommodate them and 12 were absolutely not interested in AFOs and, therefore, had not gone to an orthotist. Compliance with AFOs is poor. Patients with CMT discard AFOs because they highlight their disability, are not essential for their limited daily walking and are uncomfortable. We suggest that prescription of AFOs be accompanied with psychological support and that research of more comfortable and cosmetically acceptable solutions for the problem of footdrop be stimulated.

  10. Sustained Expression of Negative Regulators of Myelination Protects Schwann Cells from Dysmyelination in a Charcot-Marie-Tooth 1B Mouse Model.

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    Florio, Francesca; Ferri, Cinzia; Scapin, Cristina; Feltri, M Laura; Wrabetz, Lawrence; D'Antonio, Maurizio

    2018-05-02

    Schwann cell differentiation and myelination in the PNS are the result of fine-tuning of positive and negative transcriptional regulators. As myelination starts, negative regulators are downregulated, whereas positive ones are upregulated. Fully differentiated Schwann cells maintain an extraordinary plasticity and can transdifferentiate into "repair" Schwann cells after nerve injury. Reactivation of negative regulators of myelination is essential to generate repair Schwann cells. Negative regulators have also been implicated in demyelinating neuropathies, although their role in disease remains elusive. Here, we used a mouse model of Charcot-Marie-Tooth neuropathy type 1B (CMT1B), the P0S63del mouse characterized by ER stress and the activation of the unfolded protein response, to show that adult Schwann cells are in a partial differentiation state because they overexpress transcription factors that are normally expressed only before myelination. We provide evidence that two of these factors, Sox2 and Id2, act as negative regulators of myelination in vivo However, their sustained expression in neuropathy is protective because ablation of Sox2 or/and Id2 from S63del mice of both sexes results in worsening of the dysmyelinating phenotype. This is accompanied by increased levels of mutant P0 expression and exacerbation of ER stress, suggesting that limited differentiation may represent a novel adaptive mechanism through which Schwann cells counter the toxic effect of a mutant terminal differentiation protein. SIGNIFICANCE STATEMENT In many neuropathies, Schwann cells express high levels of early differentiation genes, but the significance of these altered expression remained unclear. Because many of these factors may act as negative regulators of myelination, it was suggested that their misexpression could contribute to dysmyelination. Here, we show that the transcription factors Sox2 and Id2 act as negative regulators of myelination in vivo , but that their sustained

  11. Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs

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    Lei Shi

    2018-01-01

    Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A, one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication. Previous studies of CMT1A mainly relied on rodent models, and it is not yet clear how PMP22 overexpression leads to the phenotype in patients. Here, we generated the human induced pluripotent stem cell (hiPSC lines from two CMT1A patients as an in vitro cell model. We found that, unlike the normal control cells, CMT1A hiPSCs rarely generated Schwann cells through neural crest stem cells (NCSCs. Instead, CMT1A NCSCs produced numerous endoneurial fibroblast-like cells in the Schwann cell differentiation system, and similar results were obtained in a PMP22-overexpressing iPSC model. Therefore, despite the demyelination-remyelination and/or dysmyelination theory for CMT1A pathogenesis, developmental disabilities of Schwann cells may be considered as an underlying cause of CMT1A. Our results may have important implications for the uncovering of the underlying mechanism and the development of a promising therapeutic strategy for CMT1A neuropathy.

  12. Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

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    Harry Liu

    2017-02-01

    Full Text Available Charcot-Marie-Tooth 2B peripheral sensory neuropathy (CMT2B is a debilitating autosomal dominant hereditary sensory neuropathy. Patients with this disease lose pain sensation and frequently need amputation. Axonal dysfunction and degeneration of peripheral sensory neurons is a major clinical manifestation of CMT2B. However, the cellular and molecular pathogenic mechanisms remain undefined. CMT2B is caused by missense point mutations (L129F, K157N, N161T/I, V162M in Rab7 GTPase. Strong evidence suggests that the Rab7 mutation(s enhances the cellular levels of activated Rab7 proteins, thus resulting in increased lysosomal activity and autophagy. As a consequence, trafficking and signaling of neurotrophic factors such as nerve growth factor (NGF in the long axons of peripheral sensory neurons are particularly vulnerable to premature degradation. A “gain of toxicity” model has, thus, been proposed based on these observations. However, studies of fly photo-sensory neurons indicate that the Rab7 mutation(s causes a “loss of function”, resulting in haploinsufficiency. In the review, we summarize experimental evidence for both hypotheses. We argue that better models (rodent animals and human neurons of CMT2B are needed to precisely define the disease mechanisms.

  13. Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

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    Liu, Harry; Wu, Chengbiao

    2017-02-04

    Charcot-Marie-Tooth 2B peripheral sensory neuropathy (CMT2B) is a debilitating autosomal dominant hereditary sensory neuropathy. Patients with this disease lose pain sensation and frequently need amputation. Axonal dysfunction and degeneration of peripheral sensory neurons is a major clinical manifestation of CMT2B. However, the cellular and molecular pathogenic mechanisms remain undefined. CMT2B is caused by missense point mutations (L129F, K157N, N161T/I, V162M) in Rab7 GTPase. Strong evidence suggests that the Rab7 mutation(s) enhances the cellular levels of activated Rab7 proteins, thus resulting in increased lysosomal activity and autophagy. As a consequence, trafficking and signaling of neurotrophic factors such as nerve growth factor (NGF) in the long axons of peripheral sensory neurons are particularly vulnerable to premature degradation. A "gain of toxicity" model has, thus, been proposed based on these observations. However, studies of fly photo-sensory neurons indicate that the Rab7 mutation(s) causes a "loss of function", resulting in haploinsufficiency. In the review, we summarize experimental evidence for both hypotheses. We argue that better models (rodent animals and human neurons) of CMT2B are needed to precisely define the disease mechanisms.

  14. Oral Health, Temporomandibular Disorder, and Masticatory Performance in Patients with Charcot-Marie-Tooth Type 2

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    Rejane L. S. Rezende

    2013-01-01

    Full Text Available Background. The aim of this study was to evaluate the oral health status of temporomandibular disorders (TMD and bruxism, as well as to measure masticatory performance of subjects with Charcot-Marie-Tooth type 2 (CMT2. Methods and Results. The average number of decayed, missing, and filled teeth (DMFT for both groups, control (CG and CMT2, was considered low (CG = 2.46; CMT2 = 1.85, P=0.227. The OHIP-14 score was considered low (CG = 2.86, CMT2 = 5.83, P=0.899. The prevalence of self-reported TMD was 33.3% and 38.9% (P=0.718 in CG and CMT2 respectively and for self-reported bruxism was 4.8% (CG and 22.2% (CMT2, without significant difference between groups (P=0.162. The most common clinical sign of TMD was masseter (CG = 38.1%; CMT2 = 66.7% and temporalis (CG = 19.0%; GCMT2 = 33.3% muscle pain. The geometric mean diameter (GMD was not significantly different between groups (CG = 4369; CMT2 = 4627, P=0.157. Conclusion. We conclude that the CMT2 disease did not negatively have influence either on oral health status in the presence and severity of TMD and bruxism or on masticatory performance.

  15. Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay

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    Yasser Baaj

    2009-01-01

    Full Text Available We previously developed a highly specific method for detecting SNPs with a microarray-based system using stem-loop probes. In this paper we demonstrate that coupling a multiplexing procedure with our microarray method is possible for the simultaneous detection and genotyping of four point mutations, in three different genes, involved in Charcot-Marie-Tooth disease. DNA from healthy individuals and patients was amplified, labeled with Cy3 by multiplex PCR; and hybridized to microarrays. Spot signal intensities were 18 to 74 times greater for perfect matches than for mismatched target sequences differing by a single nucleotide (discrimination ratio for “homozygous” DNA from healthy individuals. “Heterozygous” mutant DNA samples gave signal intensity ratios close to 1 at the positions of the mutations as expected. Genotyping by this method was therefore reliable. This system now combines the principle of highly specific genotyping based on stem-loop structure probes with the advantages of multiplex analysis.

  16. Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis.

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    Benson, Brian; Sulica, Lucian; Guss, Joel; Blitzer, Andrew

    2010-02-01

    To describe and define laryngeal neuropathy in Charcot-Marie-Tooth (CMT) disease. Retrospective record review from a university laryngology practice. Four adult CMT patients presented with laryngeal symptoms. Three patients exhibited bilateral vocal fold palsy, in each case with more severe hypomobility on the left. One case exhibited an isolated left vocal fold palsy. All patients complained of hoarseness and stridor, three had dyspnea, two patients had dysphagia, and one had obstructive sleep apnea (OSA). One patient has required airway surgery to date. Genetic testing revealed known sequence alterations in one case and sequence alterations previously not associated with laryngeal dysfunction in two cases. One case was familial and two were sporadic; information is not available in a fourth. The clinical course of the cases suggests slowly progressive neuropathy that appears to be nerve length dependent. The lack of severe respiratory distress despite dense bilateral paresis is consistent with existing reports and with the reported low rate of tracheostomy in adults with laryngeal manifestations of CMT. Genetic testing does not currently inform expectations or management of laryngeal disease. Dyspnea, dysphagia, and OSA symptoms in patients with CMT require careful laryngologic evaluation.

  17. Central motor and sensory pathway involvement in an X-linked Charcot-Marie-Tooth family.

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    Zambelis, T; Panas, M; Kokotis, P; Karadima, G; Kararizou, E; Karandreas, N

    2008-06-01

    The aim of the present study was to investigate the subclinical involvement of the central nervous system (CNS) in an X-linked Charcot-Marie-Toth (CMTX) family. Seven subjects, all members of one family with a C.462T > G connexin 32 (Cx32) mutation were investigated by Blink reflex, Somatosensory evoked potentials (SEP) and Transcranial magnetic stimulation (TMS). There were five clinically symptomatic for CMT neuropathy (four male and one female) and two asymptomatic (female) subjects. Subclinical CNS involvement was observed in all, symptomatic and asymptomatic subjects. This is the largest CMTX neuropathy family investigated for CNS involvement. Electrophysiological involvement of the CNS in every examined member of this family was observed, raising the question of a more systematic involvement of the CNS in CMTX disease.

  18. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

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    Rips, Jonathan; Meyer-Schuman, Rebecca; Breuer, Oded; Tsabari, Reuven; Shaag, Avraham; Revel-Vilk, Shoshana; Reif, Shimon; Elpeleg, Orly; Antonellis, Anthony; Harel, Tamar

    2018-04-12

    Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNA with cognate amino acids during protein translation. Non-canonical functions are increasingly recognized, and include transcription and translation control and extracellular signaling. Monoallelic mutations in genes encoding several ARSs have been identified in axonal Charcot-Marie-Tooth (CMT2) disease, whereas biallelic mutations in ARS loci have been associated with multi-tissue syndromes, variably involving the central nervous system, lung, and liver. We report a male infant of non-consanguineous origin, presenting with successive onset of transfusion-dependent anemia, hypothyroidism, cholestasis, interstitial lung disease, and developmental delay. Whole-exome sequencing (WES) revealed compound heterozygosity for two variants (p.Tyr307Cys and p.Arg618Cys) in MARS, encoding methionyl-tRNA synthetase. Biallelic MARS mutations are associated with interstitial lung and liver disease (ILLD). Interestingly, the p.Arg618Cys variant, inherited from an unaffected father, was previously reported in a family with autosomal dominant late-onset CMT2. Yeast complementation assays confirmed pathogenicity of p.Arg618Cys, yet suggested retained function of p.Tyr307Cys. Our findings underscore the phenotypic variability associated with ARS mutations, and suggest genetic or environmental modifying factors in the onset of monoallelic MARS-associated CMT2. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  19. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

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    Zimoń, Magdalena; Battaloǧlu, Esra; Parman, Yesim; Erdem, Sevim; Baets, Jonathan; De Vriendt, Els; Atkinson, Derek; Almeida-Souza, Leonardo; Deconinck, Tine; Ozes, Burcak; Goossens, Dirk; Cirak, Sebahattin; Van Damme, Philip; Shboul, Mohammad; Voit, Thomas; Van Maldergem, Lionel; Dan, Bernard; El-Khateeb, Mohammed S.; Guergueltcheva, Velina; Lopez-Laso, Eduardo; Goemans, Nathalie; Masri, Amira; Züchner, Stephan; Timmerman, Vincent; Topaloǧlu, Haluk; De Jonghe, Peter

    2016-01-01

    Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical heterogeneity, posing considerable challenges for patients, physicians, and researchers. We report on the genetic findings from a systematic study of a large collection of 174 independent ARCMT families. Initial sequencing of the three most common ARCMT genes (ganglioside-induced differentiation protein 1—GDAP1, SH3 domain and tetratricopeptide repeats-containing protein 2—SH3TC2, histidine-triad nucleotide binding protein 1—HINT1) identified pathogenic mutations in 41 patients. Subsequently, 87 selected nuclear families underwent single nucleotide polymorphism (SNP) genotyping and homozygosity mapping, followed by targeted screening of known ARCMT genes. This strategy provided molecular diagnosis to 22 % of the families. Altogether, our unbiased genetic approach identified pathogenic mutations in ten ARCMT genes in a total of 41.3 % patients. Apart from a newly described founder mutation in GDAP1, the majority of variants constitute private molecular defects. Since the gene testing was independent of the clinical phenotype of the patients, we identified mutations in patients with unusual or additional clinical features, extending the phenotypic spectrum of the SH3TC2 gene. Our study provides an overview of the ARCMT genetic landscape and proposes guidelines for tackling the genetic heterogeneity of this group of hereditary neuropathies. PMID:25231362

  20. MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease

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    Gaeta, Michele; Mileto, Achille; Minutoli, Fabio; Settineri, Nicola; Donato, Rocco; Ascenti, Giorgio; Blandino, Alfredo [Policlinico ' ' G. Martino' ' , Dipartimento di Scienze Radiologiche, Messina (Italy); Mazzeo, Anna; Di Leo, Rita [Policlinico ' ' G. Martino' ' , Dipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Messina (Italy)

    2012-05-15

    To describe the magnetic resonance imaging (MRI) pattern of muscle involvement and disease progression in five patients with late-onset Charcot-Marie-Tooth (CMT) disease type 2 F, due to a previously unknown mutation. Five patients (three males, two females) underwent MRI of the lower limbs to define the pattern of muscle involvement and evaluate the muscle fat fraction (MFF) of residual thigh muscle with gradient-echo (GRE) dual-echo dual-flip angle technique. Evaluation of fatty infiltration both by visual inspection and MFF calculation was performed. A proximal-to-distal gradient of muscle involvement was depicted in male patients with extensive muscle wasting of lower legs, less severe impairment of distal thigh muscles, and sparing of proximal thigh muscles. A peculiar phenotype finding was that no or only slight muscle abnormalities could be found in the two female patients. We described the pattern of muscle involvement and disease progression in a family with CMT disease type 2 F. GRE dual-echo dual-flip angle MRI technique is a valuable technique to obtain a rapid quantification of MFF. (orig.)

  1. Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing

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    Chi-Chun Ho

    2017-04-01

    Full Text Available Charcot-Marie-Tooth disease (CMT is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping are limited by long turnaround time, population-specific prevalence of causative variants and inability to assess multiple co-existing variants. In this study, a CMT gene panel comprising 27 genes was used to uncover the pathogenic mutations in two index patients. The first patient is a 15-year-old boy, born of consanguineous parents, who has had frequent trips and falls since infancy, and was later found to have inverted champagne bottle appearance of bilateral legs and foot drop. His elder sister is similarly affected. The second patient is a 37-year-old woman referred for pre-pregnancy genetic diagnosis. During early adulthood, she developed progressive lower limb weakness, difficulties in tip-toe walking and thinning of calf muscles. Both patients are clinically compatible with CMT, have undergone multiple genetic testings and have not previously received a definitive genetic diagnosis. Patients 1 and 2 were found to have pathogenic homozygous HSPB1:NM_001540:c.250G>A (p.G84R variant and heterozygous GDAP1:NM_018972:c.358C>T (p.R120W variant, respectively. Advantages and limitations of the current approach are discussed.

  2. A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ p.Thr124Met mutation shares the Belgian haplotype

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    Alejandro Leal

    2014-12-01

    Full Text Available The p.Thr124Met mutation in the myelin protein zero (MPZ causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch, the founder effect hypothesis for this allele migration is suggestive. Rev. Biol. Trop. 62 (4: 1285-1293. Epub 2014 December 01.

  3. Gait and footwear in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional, case-controlled study.

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    Kennedy, Rachel A; McGinley, Jennifer L; Paterson, Kade L; Ryan, Monique M; Carroll, Kate

    2018-05-01

    Children with Charcot-Marie-Tooth disease (CMT) report problems with gait and footwear. We evaluated differences in spatio-temporal gait variables and gait variability between children with CMT and typically developing (TD) children, and investigated the effect of footwear upon gait. A cross-sectional study of 30 children with CMT and 30 age- and gender-matched TD children aged 4-18 years. Gait was assessed at self-selected speed on an electronic walkway while barefoot and in two types of the child's own footwear; optimal (e.g., athletic-type runners) and suboptimal (e.g., flip-flops). Children with CMT walked more slowly (mean (SD) -13.81 (3.61) cm/s), with shorter steps (-6.28 (1.37) cm), wider base of support (+2.47 (0.66) cm; all p footwear than suboptimal (-7.55 (1.31) cm/s) and barefoot (-7.42 (1.07) cm/sec; both p footwear was more variable compared to barefoot and optimal footwear. Greater base of support variability and reduced balance was moderately correlated for both groups (CMT and TD). Gait is slower with shorter, wider steps and greater base of support variability in children with CMT. Poor balance is associated with greater base of support gait variability. Suboptimal footwear negatively affects gait in all children (CMT and TD), which has clinical implications for children and adolescents with CMT who have weaker feet and ankles, and poor balance. Copyright © 2018 Elsevier B.V. All rights reserved.

  4. Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

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    Olga S Koutsopoulos

    Full Text Available The large GTPase dynamin 2 is a key player in membrane and cytoskeletal dynamics mutated in centronuclear myopathy (CNM and Charcot-Marie Tooth (CMT neuropathy, two discrete dominant neuromuscular disorders affecting skeletal muscle and peripheral nerves respectively. The molecular basis for the tissue-specific phenotypes observed and the physiopathological mechanisms linked to dynamin 2 mutations are not well established. In this study, we have analyzed the impact of CNM and CMT implicated dynamin 2 mutants using ectopic expression of four CNM and two CMT mutations, and patient fibroblasts harboring two dynamin 2 CNM mutations in established cellular processes of dynamin 2 action. Wild type and CMT mutants were seen in association with microtubules whereas CNM mutants lacked microtubules association and did not disrupt interphase microtubules dynamics. Most dynamin 2 mutants partially decreased clathrin-mediated endocytosis when ectopically expressed in cultured cells; however, experiments in patient fibroblasts suggested that endocytosis is overall not defective. Furthermore, CNM mutants were seen in association with enlarged clathrin stained structures whereas the CMT mutant constructs were associated with clathrin structures that appeared clustered, similar to the structures observed in Dnm1 and Dnm2 double knock-out cells. Other roles of dynamin 2 including its interaction with BIN1 (amphiphysin 2, and its function in Golgi maintenance and centrosome cohesion were not significantly altered. Taken together, these mild functional defects are suggestive of differences between CMT and CNM disease-causing dynamin 2 mutants and suggest that a slight impairment in clathrin-mediated pathways may accumulate over time to foster the respective human diseases.

  5. A brief review of recent Charcot-Marie-Tooth research and priorities [v1; ref status: indexed, http://f1000r.es/53g

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    Sean Ekins

    2015-02-01

    Full Text Available This brief review of current research progress on Charcot-Marie-Tooth (CMT disease is a summary of discussions initiated at the Hereditary Neuropathy Foundation (HNF scientific advisory board meeting on November 7, 2014. It covers recent published and unpublished in vitro and in vivo research. We discuss recent promising preclinical work for CMT1A, the development of new biomarkers, the characterization of different animal models, and the analysis of the frequency of gene mutations in patients with CMT. We also describe how progress in related fields may benefit CMT therapeutic development, including the potential of gene therapy and stem cell research. We also discuss the potential to assess and improve the quality of life of CMT patients. This summary of CMT research identifies some of the gaps which may have an impact on upcoming clinical trials. We provide some priorities for CMT research and areas which HNF can support. The goal of this review is to inform the scientific community about ongoing research and to avoid unnecessary overlap, while also highlighting areas ripe for further investigation. The general collaborative approach we have taken may be useful for other rare neurological diseases.

  6. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

    Science.gov (United States)

    Sevilla, T; Martínez-Rubio, D; Márquez, C; Paradas, C; Colomer, J; Jaijo, T; Millán, J M; Palau, F; Espinós, C

    2013-06-01

    Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN-Russe (25%) and HMSN-Lom (17.86%). The relevant frequency of HMSN-Russe has allowed us to investigate in depth the genetics and the associated clinical symptoms of this CMT form. HMSN-Russe probands share the same haplotype confirming that the HK1 g.9712G>C is a founder mutation, which arrived in Spain around the end of the 18th century. The clinical picture of HMSN-Russe is a progressive CMT disorder leading to severe weakness of the lower limbs and prominent distal sensory loss. Motor nerve conduction velocity was in the demyelinating or intermediate range. © 2012 John Wiley & Sons A/S.

  7. A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

    LENUS (Irish Health Repository)

    Murphy, Sinéad M

    2011-03-01

    X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene which codes for connexin 32 (CX32). CX32 has three tissue-specific promoters, P1 which is specific for liver and pancreas, P1a specific for liver, oocytes and embryonic stem cells, and P2 which is nerve-specific. Over 300 mutations have been described in GJB1, spread throughout the coding region. We describe two families with X-linked inheritance and a phenotype consistent with CMT1X who did not have mutations in the GJB1 coding region. The non-coding region of GJB1 was sequenced and an upstream exon-splicing variant found at approximately - 373G>A which segregated with the disease in both families and was not present in controls. This substitution is located at the last base of the nerve-specific 5\\'UTR and thus may disrupt splicing of the nerve-specific transcript. Online consensus splice-site programs predict a reduced score for the mutant sequence vs. the normal sequence. It is likely that other mutations within the GJB1 non-coding regions account for the CMT1X families who do not have coding region mutations.

  8. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

    Science.gov (United States)

    van Paassen, Barbara W; van der Kooi, Anneke J; van Spaendonck-Zwarts, Karin Y; Verhamme, Camiel; Baas, Frank; de Visser, Marianne

    2014-03-19

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal.

  9. Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

    Directory of Open Access Journals (Sweden)

    Laurent P. Bogdanik

    2013-05-01

    Charcot-Marie-Tooth disease (CMT is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. Several CMT gene products function in endosomal sorting and trafficking to the lysosome, suggesting that defects in this cellular pathway might present a common pathogenic mechanism for these conditions. LRSAM1 is an E3 ubiquitin ligase that is implicated in this process, and mutations in LRSAM1 have recently been shown to cause CMT. We have generated mouse mutations in Lrsam1 to create an animal model of this form of CMT (CMT2P. Mouse Lrsam1 is abundantly expressed in the motor and sensory neurons of the peripheral nervous system. Both homozygous and heterozygous mice have largely normal neuromuscular performance and only a very mild neuropathy phenotype with age. However, Lrsam1 mutant mice are more sensitive to challenge with acrylamide, a neurotoxic agent that causes axon degeneration, indicating that the axons in the mutant mice are indeed compromised. In transfected cells, LRSAM1 primarily localizes in a perinuclear compartment immediately beyond the Golgi and shows little colocalization with components of the endosome to lysosome trafficking pathway, suggesting that other cellular mechanisms also merit consideration.

  10. Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Bogdanik, Laurent P; Sleigh, James N; Tian, Cong; Samuels, Mark E; Bedard, Karen; Seburn, Kevin L; Burgess, Robert W

    2013-05-01

    Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. Several CMT gene products function in endosomal sorting and trafficking to the lysosome, suggesting that defects in this cellular pathway might present a common pathogenic mechanism for these conditions. LRSAM1 is an E3 ubiquitin ligase that is implicated in this process, and mutations in LRSAM1 have recently been shown to cause CMT. We have generated mouse mutations in Lrsam1 to create an animal model of this form of CMT (CMT2P). Mouse Lrsam1 is abundantly expressed in the motor and sensory neurons of the peripheral nervous system. Both homozygous and heterozygous mice have largely normal neuromuscular performance and only a very mild neuropathy phenotype with age. However, Lrsam1 mutant mice are more sensitive to challenge with acrylamide, a neurotoxic agent that causes axon degeneration, indicating that the axons in the mutant mice are indeed compromised. In transfected cells, LRSAM1 primarily localizes in a perinuclear compartment immediately beyond the Golgi and shows little colocalization with components of the endosome to lysosome trafficking pathway, suggesting that other cellular mechanisms also merit consideration.

  11. Electromyographic and biomechanical analysis of step negotiation in Charcot Marie Tooth subjects whose level walk is not impaired.

    Science.gov (United States)

    Lencioni, Tiziana; Piscosquito, Giuseppe; Rabuffetti, Marco; Sipio, Enrica Di; Diverio, Manuela; Moroni, Isabella; Padua, Luca; Pagliano, Emanuela; Schenone, Angelo; Pareyson, Davide; Ferrarin, Maurizio

    2018-05-01

    Charcot-Marie-Tooth (CMT) is a slowly progressive disease characterized by muscular weakness and wasting with a length-dependent pattern. Mildly affected CMT subjects showed slight alteration of walking compared to healthy subjects (HS). To investigate the biomechanics of step negotiation, a task that requires greater muscle strength and balance control compared to level walking, in CMT subjects without primary locomotor deficits (foot drop and push off deficit) during walking. We collected data (kinematic, kinetic, and surface electromyographic) during walking on level ground and step negotiation, from 98 CMT subjects with mild-to-moderate impairment. Twenty-one CMT subjects (CMT-NLW, normal-like-walkers) were selected for analysis, as they showed values of normalized ROM during swing and produced work at push-off at ankle joint comparable to those of 31 HS. Step negotiation tasks consisted in climbing and descending a two-step stair. Only the first step provided the ground reaction force data. To assess muscle activity, each EMG profile was integrated over 100% of task duration and the activation percentage was computed in four phases that constitute the step negotiation tasks. In both tasks, CMT-NLW showed distal muscle hypoactivation. In addition, during step-ascending CMT-NLW subjects had relevant lower activities of vastus medialis and rectus femoris than HS in weight-acceptance, and, on the opposite, a greater activation as compared to HS in forward-continuance. During step-descending, CMT-NLW showed a reduced activity of tibialis anterior during controlled-lowering phase. Step negotiation revealed adaptive motor strategies related to muscle weakness due to disease in CMT subjects without any clinically apparent locomotor deficit during level walking. In addition, this study provided results useful for tailored rehabilitation of CMT patients. Copyright © 2018 Elsevier B.V. All rights reserved.

  12. Ankle foot orthoses for people with Charcot Marie Tooth disease--views of users and orthotists on important aspects of use.

    Science.gov (United States)

    Phillips, Margaret; Radford, Kathryn; Wills, Adrian

    2011-01-01

    To explore important aspects of the benefits, important characteristics, barriers to use and disadvantages of using ankle foot orthoses (AFOs) as seen by people with Charcot Marie Tooth disease (CMT) and the orthotists who will fit and supply them. This qualitative study used the nominal group technique and individual semi-structured interviews, according to participant preference and ability to travel. Propositions were put to 15 participants (eight females) with CMT regarding benefits, disadvantages, barriers to use and important characteristics of ankle foot orthoses AFOs and regarding benefits and disadvantages to seven orthotists. Priorities in these areas were ranked and a thematic analysis of the free text was made separately by two observers and a joint decision made of final themes. Fifteen people (eight females) with CMT and seven orthotists participated. Users' themes concerned functional mobility walking, pain/discomfort, choice of AFOs and associated footwear, custom made design, use in practical situations and support for foot and ankle. They noted that AFOs improved walking, but practical aspects of use and provision, as well as consideration of cosmetic aspects, were frequently problematic. Orthotists had similar themes, but with a difference in emphasis, that included prevention of future complications, education regarding device limitations and craftsmanship as a further theme. Users understood the potential benefits of AFOs and could identify disadvantages which might be remedied, but were frustrated by the difficulties in translating this into practice. Further refinement of current orthoses and delivery of orthotic services may assist in addressing these issues. © 2011 Informa UK, Ltd.

  13. Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva en Palmares, Costa Rica

    Directory of Open Access Journals (Sweden)

    Melissa Rojas-Araya

    2009-11-01

    Full Text Available La enfermedad de Charcot-Marie-Tooth constituye elgrupo de neuropatías periféricas hereditarias más común a nivel mundial. Una familia con 18 afectados del cantón de Palmares (Alajuela, Costa Rica con una neuropatía de tipo axonal y herencia autosómica recesiva, permitió localizar el gen responsable en la región 19q13.33. Posteriormente se identificó la mutación causante en el gen MED25. El presente estudio determinó la frecuencia del alelo mutante, así como la distribución geográfica de este alelo. En una muestra al azar de 103 individuos se encontraron seis individuos heteroigotas para la mutación, distribuidos por todo el cantón. No se encontró ninguna persona en estado homocigota para este alelo. No hallamos algunacaracterística clínica que difiera significativamente entre los individuos homocigotos silvestres y los heterocigotos para la mutación. El 5.83% de la población es heterocigota y la frecuencia del alelo Ala335Val es de 0.029, seis veces mayor que en una muestra de toda la población costarricense. Por esta razón se recomienda un análisis molecular de portadores con el fin de alertar sobre la posibilidad de aparición de más casos en el cantón.

  14. Experiment list: SRX190300 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available (also designated Charcot-Marie-tooth disease) and Dejerine- Sottas neuropathology...omyelination neuropathy (also designated Charcot-Marie-tooth disease) and Dejerine- Sottas neuropathology (a

  15. Experiment list: SRX190302 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available Charcot-Marie-tooth disease) and Dejerine- Sottas neuropathology (also designated...opathy (also designated Charcot-Marie-tooth disease) and Dejerine- Sottas neuropathology (also designated he

  16. Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.

    Science.gov (United States)

    De Toffol, Simona; Bellone, Emilia; Dulcetti, Francesca; Ruggeri, Anna Maria; Maggio, Pietro Paolo; Pulimeno, Maria Rosaria; Mandich, Paola; Maggi, Federico; Simoni, Giuseppe; Grati, Francesca Romana

    2010-04-01

    Charcot Marie Tooth (CMT) syndrome is the most common hereditary peripheral neuropathy, with an incidence of about 1 in 2500. The subtype 1A (CMT1A) is caused by a tandem duplication of a 1.5-Mb region encompassing the PMP22 gene. Conventional short tandem repeat (STR) analysis can reveal this imbalance if a triallelic pattern, defining with certainty the presence of duplication, is present. In case of duplication with a biallelic pattern, it can only indicate a semiquantitative dosage of the fluorescence intensity ratio of the two fragments. In this study we developed a quantitative fluorescence-PCR using seven highly informative STRs within the CMT1A critical region that successfully disclosed or excluded the presence of the pathogenic imbalance in a cohort of 60 samples including 40 DNAs from samples with the CMT1A duplication previously characterized with two different molecular approaches, and 20 diagnostic samples from 10 members of a five-generation pedigree segregating CMT1A, 8 unrelated cases and 2 prenatal samples. The application of the quantitative fluorescence-PCR using STRs located in the critical region could be a reliable method to evaluate the presence of the PMP22 duplication for the diagnosis and classification of hereditary neuropathies in asymptomatic subjects with a family history of inherited neuropathy, in prenatal samples in cases with one affected parent, and in unrelated patients with a sporadic demyelinating neuropathy with clinical features resembling CMT (i.e., pes cavus with hammer toes) or with conduction velocities in the range of CMT1A.

  17. Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

    Science.gov (United States)

    Caridi, Gianluca; Lugani, Francesca; Dagnino, Monica; Gigante, Maddalena; Iolascon, Achille; Falco, Mariateresa; Graziano, Claudio; Benetti, Elisa; Dugo, Mauro; Del Prete, Dorella; Granata, Antonio; Borracelli, Donella; Moggia, Elisabetta; Quaglia, Marco; Rinaldi, Rita; Gesualdo, Loreto; Ghiggeri, Gian Marco

    2014-09-01

    Mutations of INF2 represent the major cause of familial autosomal dominant (AD) focal segmental glomerulosclerosis (FSGS). A few patients present neurological symptoms of Charcot-Marie-Tooth (CMT) disease but the prevalence of the association has not been assessed yet. We screened 28 families with AD FSGS and identified 8 INF2 mutations in 9 families (32 patients overall), 3 of which were new. Mutations were in all cases localized in the diaphanous-inhibitory domain (DID) of the protein. Clinical features associated with INF2 mutations in our patient cohort included mild proteinuria (1.55 g/L; range 1-2.5) and haematuria as a unique symptom that was recognized at a median age of 21.75 years (range 8-30). Eighteen patients developed end-stage renal disease during their third decade of life; 12 patients presented a creatinine range between 1.2 and 1.5 mg/dL and 2 were healthy at 45 and 54 years of age. CMT was diagnosed in four cases (12.5%); one of these patients presented an already known mutation on exon 2 of INF2, whereas the other patients presented the same mutation on exon 4, a region that was not previously associated with CMT. We confirmed the high incidence of INF2 mutations in families with AD FSGS. The clinical phenotype was mild at the onset of the disease, but evolution to ESRD was frequent. The incidence of CMT has, for the first time, been calculated here to be 12.5% of mutation carriers. Our findings support INF2 gene analysis in families in which renal failure and/or neuro-sensorial defects are inherited following an AD model. © The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  18. Gait analysis in a patient with severe Charcot-Marie-Tooth disease: a case study with a new orthotic device for footdrop.

    Science.gov (United States)

    Vinci, Paolo; Paoloni, M; Ioppolo, F; Gargiulo, P; Santilli, V

    2010-09-01

    Management of footdrop in severe Charcot-Marie-Tooth (CMT) patients is a challenge owing to the combination of quadriceps muscle weakness, distal muscular atrophy, sensory impairment and poor soft tissue resistance to the placement of an orthotic device. We present a case study of a patient who gradually became unable to use his ankle-foot orthoses because they hampered the compensative movements required to stabilize his knees passively and caused pain. The aim of this report is to describe orthotic management in such a severe CMT case and to present a new orthotic device that we devised for the footdrop in this patient. We provided him with 3 different footdrop devices, each of which was highly elastic to allow knee hyperextension, and left him free to decide which one to use: 1) the silicone-ankle-foot orthoses were rapidly discarded because of pain; 2) the Codivilla support was not used because of discomfort and poor aesthetic appearance; 3) a new device, called the "Soft Footdrop Insert" (SFI), consisting of a sheet of Veolform, a reticulated polyolephinic foam, stuck to the counter of midcalf boots, was found to be effective, comfortable, pain-free and aesthetically acceptable, and was consequently used the vast majority of the time. At a 3-year follow-up, an instrumental gait analysis, in which ordinary shoes were compared with the Codivilla support and the SFI, revealed that both the Codivilla support and the SFI controlled footdrop more effectively than ordinary shoes and increased swing and mean velocity; in addition, the SFI yielded the best gait performances. We think that a soft, invisible device, such as the SFI, may satisfy the needs of CMT patients and improve compliance with orthoses-wearing for footdrop.

  19. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

    Directory of Open Access Journals (Sweden)

    Cassereau Julien

    2011-12-01

    Full Text Available Abstract Background The ganglioside-induced differentiation-associated protein 1 gene (GDAP1, which is involved in the Charcot-Marie-Tooth disease (CMT, the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases. Methods and Results We report the development of a publicly accessible LSDB for the GDAP1 gene. The GDAP1 LSDB has adopted the Leiden Open-source Variation Database (LOVD software platform. This database, which now contains 57 unique variants reported in 179 cases of CMT, offers a detailed description of the molecular, clinical and electrophysiological data of the patients. The usefulness of the GDAP1 database is illustrated by the finding that GDAP1 mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease. Conclusion Findings of this nature should lead to a better understanding of the pathophysiology of CMT. Finally, the GDAP1 LSDB, which is part of the mitodyn.org portal of databases of genes incriminated in disorders involving mitochondrial dynamics and bioenergetics, should yield new insights into mitochondrial diseases.

  20. Irradiação contralateral de força para a ativação do músculo tibial anterior em portadores da doença de Charcot-Marie-Tooth: efeitos de um programa de intervenção por FNP Contralateral force irradiation for the activation of tibialis anterior muscle in carriers of Charcot-Marie-Tooth disease: effect of PNF intervention program

    Directory of Open Access Journals (Sweden)

    Paula C. Meningroni

    2009-10-01

    Full Text Available OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP em pacientes com polineuropatia desmielinizante associada à doença de Charcot-Marie-Tooth do tipo 1A (CMT-1A. MÉTODOS: Participaram deste estudo 12 pacientes, de ambos os sexos. Eles foram tratados em uma frequência de duas vezes por semana, durante cinco semanas. Em cada sessão, foram utilizadas as diagonais de Chopping, extensão-adução com rotação interna (EARI e flexão-abdução com rotação interna (FARI. As diagonais foram repetidas quatro vezes, em ambos os membros superiores e inferiores; cada diagonal tinha duração média de 6 segundos. Durante as execuções, a resposta muscular do TA foi registrada por um eletromiógrafo de superfície, desprezando-se os 2 segundos iniciais e finais de cada diagonal. A média dos valores de Root Mean Square (RMS das quatro repetições foi normalizada em porcentagem. Os dados iniciais e finais foram submetidos ao teste em t para amostras pareadas com valores de p significativos OBJECTIVE: To evaluate the response of the tibialis anterior (TA muscle following a five-week protocol with contralateral irradiation force through Proprioceptive Neuromuscular Facilitation (PNF diagonals in patients with demyelinating polyneuropathy associated with Charcot-Marie-Tooth disease type 1A (CMT-1A. METHODS: The study included 12 patients of both sexes. They were treated twice-weekly for 5 weeks. At each session, they performed the following diagonal patterns: chopping, extension-adduction with internal rotation (EAIR and flexion-abduction with internal rotation (FAIR. The diagonals were repeated four times, in both upper and lower limbs, with each repetition lasting six seconds on average. During execution, the response of the TA muscle was recorded by a surface electromyograph disregarding the

  1. Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

    Science.gov (United States)

    Hamadouche, T; Poitelon, Y; Genin, E; Chaouch, M; Tazir, M; Kassouri, N; Nouioua, S; Chaouch, A; Boccaccio, I; Benhassine, T; De Sandre-Giovannoli, A; Grid, D; Lévy, N; Delague, V

    2008-09-01

    CMT2B1, an axonal subtype (MIM 605588) of the Charcot-Marie-Tooth disease, is an autosomal recessive motor and sensory neuropathy characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness. The genetic defect associated with the disease is, to date, a unique homozygous missense mutation, p.Arg298Cys (c.892C>T), in the LMNA gene. So far, this mutation has only been found in affected individuals originating from a restricted region of North Western Africa (northwest of Algeria and east of Morocco), strongly suggesting a founder effect. In order to address this hypothesis, genotyping of both STRs and intragenic SNPs was performed at the LMNA locus, at chromosome 1q21.2-q21.3, in 42 individuals affected with CMT2B1 from 25 Algerian families. Our results indicate that the affected individuals share a common ancestral haplotype in a region of about 1.0 Mb (1 cM) and that the most recent common ancestor would have lived about 800-900 years ago (95% confidence interval: 550 to 1300 years).

  2. Melatonin Treatment Reduces Oxidative Damage and Normalizes Plasma Pro-Inflammatory Cytokines in Patients Suffering from Charcot-Marie-Tooth Neuropathy: A Pilot Study in Three Children.

    Science.gov (United States)

    Chahbouni, Mariam; López, María Del Señor; Molina-Carballo, Antonio; de Haro, Tomás; Muñoz-Hoyos, Antonio; Fernández-Ortiz, Marisol; Guerra-Librero, Ana; Acuña-Castroviejo, Darío

    2017-10-14

    Charcot-Marie-Tooth neuropathy (CMT) is a motor and sensory neuropathy comprising a heterogeneous group of inherited diseases. The CMT1A phenotype is predominant in the 70% of CMT patients, with nerve conduction velocity reduction and hypertrophic demyelination. These patients have elevated oxidative stress and chronic inflammation. Currently, there is no effective cure for CMT; herein, we investigated whether melatonin treatment may reduce the inflammatory and oxidative damage in CMT1A patients. Three patients, aged 8-10 years, were treated with melatonin (60 mg at 21:00 h plus 10 mg at 09:00 h), and plasma levels of lipid peroxidation (LPO), nitrites (NOx), IL-1β, IL-2, IL-6, TNF-α, INF-γ, oxidized to reduced glutathione (GSSG/GSH) ratio, and the activities of superoxide dismutase (SOD), glutathione-S transferase (GST), glutathione peroxidase (GPx), and reductase (GRd), were determined in erythrocytes at 3 and 6 months of treatment. Healthy age- and sex-matched subjects were used as controls. The results showed increased activities of SOD, GST, GPx, and GRd in CMT1A patients, which were reduced at 3 and 6 months of treatment. The GSSG/GSH ratio significantly increased in the patients, returning to control values after melatonin treatment. The inflammatory process was confirmed by the elevation of all proinflammatory cytokines measured, which were also normalized by melatonin. LPO and NOx, which also were elevated in the patients, were normalized by melatonin. The results document beneficial effects of the use of melatonin in CMT1A patients to reduce the hyperoxidative and inflammatory condition, which may correlate with a reduction of the degenerative process.

  3. Experiment list: SRX100459 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available Charcot-Marie-tooth disease) and Dejerine- Sottas neuropathology (also designate...ot-Marie-tooth disease) and Dejerine- Sottas neuropathology (also designated hereditary motor and sensory ne

  4. Charcot-Marie-Tooth Disease

    Science.gov (United States)

    ... protein regulation and how the mitochondria, thr cell's power plant, may play a role in nerve degeneration. Information from the ... protein regulation and how the mitochondria, thr cell's power plant, may play a role in nerve degeneration. Information from the ...

  5. Charcot-Marie-Tooth Disease

    Science.gov (United States)

    ... involves muscle strength training, muscle and ligament stretching, stamina training, and moderate aerobic exercise. Most therapists recommend ... muscle pull on bones. Exercises to help build stamina or increase endurance will help prevent the fatigue ...

  6. African Journal of Neurological Sciences - 2009 Vol. 28 No 1

    African Journals Online (AJOL)

    Key words: hereditary neuropathy, Charcot-Marie-Tooth disease, genetic, ..... Molecular genetics of autosomal-dominant demyelinating Charcot- ..... Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.

  7. Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy [v2; ref status: indexed, http://f1000r.es/3am

    Directory of Open Access Journals (Sweden)

    Lori Sames

    2014-04-01

    Full Text Available Approximately 1 in 2500 Americans suffer from Charcot-Marie-Tooth (CMT disease. The underlying disease mechanisms are unique in most forms of CMT, with many point mutations on various genes causing a toxic accumulation of misfolded proteins. Symptoms of the disease often present within the first two decades of life, with CMT1A patients having reduced compound muscle and sensory action potentials, slow nerve conduction velocities, sensory loss, progressive distal weakness, foot and hand deformities, decreased reflexes, bilateral foot drop and about 5% become wheelchair bound. In contrast, the ultra-rare disease Giant Axonal Neuropathy (GAN is frequently described as a recessively inherited condition that results in progressive nerve death. GAN usually appears in early childhood and progresses slowly as neuronal injury becomes more severe and leads to death in the second or third decade. There are currently no treatments for any of the forms of CMTs or GAN. We suggest that further clinical studies should analyse electrical impedance myography as an outcome measure for CMT. Further, additional quality of life (QoL assessments for these CMTs are required, and we need to identify GAN biomarkers as well as develop new genetic testing panels for both diseases. We propose that using the Global Registry of Inherited Neuropathy (GRIN could be useful for many of these studies. Patient advocacy groups and professional organizations (such as the Hereditary Neuropathy Foundation (HNF, Hannah's Hope Fund (HHF, The Neuropathy Association (TNA and the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM can play a central role in educating clinicians and patients. Undertaking these studies will assist in the correct diagnosis of disease recruiting patients for clinical studies, and will ultimately improve the endpoints for clinical trials. By addressing obstacles that prevent industry investment in various forms of inherited neuropathies

  8. Experiment list: SRX190344 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available arie-tooth disease) and Dejerine- Sottas neuropathology (also designated heredita...gnated Charcot-Marie-tooth disease) and Dejerine- Sottas neuropathology (also designated hereditary motor an

  9. Learning about Charcot-Marie-Tooth Disease

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  10. Charcot-Marie-Tooth and Related Diseases

    Science.gov (United States)

    ... a career in computer technology, started a small business, pursued my interests in art and photography, married, ... in three different ways that aren’t always easy to trace through a family tree. Does It ...

  11. Anaesthesia and Charcot-Marie- Tooth Disease

    African Journals Online (AJOL)

    Adele

    The exact nature of the disorder can be distinguished from other. A Bösenberg*# ... frequently trip over objects and have a tendency to sprain their ankles. ... had significant pain limiting his activity and requiring chronic pain ... Life expectancy is normal. .... and sensory disability has a strong relationship to induction dose of.

  12. Édouard Brissaud, Fulgence Raymond and the succession of Charcot.

    Science.gov (United States)

    Tatu, Laurent

    2011-01-01

    At the time of his death in 1893, Jean-Martin Charcot (1825-1893) had reigned supreme over neurology in Paris for some 10 years. The problem of finding a successor was not easy to solve, and it was initially agreed that a temporary replacement should be found. Édouard Brissaud (1852-1909), one of Charcot's students and close associates, was charged with this mission. With the support of some of Charcot's other former students, he held the position of chair for diseases of the nervous system for 1 year. In theory, there were a number of potential successors, but only three were officially declared: Édouard Brissaud, Jules Déjerine (1849-1917) and Fulgence Raymond (1844- 1910). Other students of Charcot such as Pierre Marie (1853-1940), Alix Joffroy (1844-1908), Joseph Babinski (1857-1932) and Georges Gilles de la Tourette (1857-1904) had to withdraw their candidature for various reasons. The election culminated in the appointment of Fulgence Raymond as Charcot's successor. Although such an impossible succession was beyond Raymond, his work in neurology, which is often unrecognised, made him one of the most important neurologists of the early 20th century. Copyright © 2011 S. Karger AG, Basel.

  13. Experiment list: SRX100479 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available ated Charcot-Marie-tooth disease) and Dejerine- Sottas neuropathology (also desig... disease) and Dejerine- Sottas neuropathology (also designated hereditary motor and sensory neuro- pathy III

  14. Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

    Science.gov (United States)

    2015-08-24

    Spinal Muscular Atrophy; Charcot-Marie-Tooth Disease; Muscular Dystrophy; Spinal Muscular Atrophy With Respiratory Distress 1; Amyotrophic Lateral Sclerosis; Motor Neuron Disease; Neuromuscular Disease; Peroneal Muscular Atrophy; Fragile X Syndrome

  15. The seminal role played by Pierre Marie in Neurology and Internal Medicine

    Directory of Open Access Journals (Sweden)

    Gustavo M Almeida

    2015-10-01

    Full Text Available The authors review the most important contributions of Pierre Marie to the elucidation and description of several neurological diseases, such as Charcot-Marie-Tooth’s disease and hereditary cerebellar ataxia, as well as his contributions to Internal Medicine, including his pioneering studies on acromegaly, ankylosing spondylitis, and hypertrophic pulmonary osteoarthropathy. His works led to incontestable advances in the medical sciences that transcended his time.

  16. Medical Management

    Science.gov (United States)

    ... org Close Charcot-Marie-Tooth Disease (CMT) Medical Management Although there’s no cure for CMT, there are ... individualized physical therapy program. For more on medical management of CMT, see Surgery Sometimes, Bracing Often, Caution ...

  17. Genetics Home Reference: Charcot-Marie-Tooth disease

    Science.gov (United States)

    ... CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe that this condition ... Dejerine Sottas Disease National Organization for Rare Disorders: Rosenberg-Chutorian Syndrome National Organization for Rare Disorders: Roussy- ...

  18. Stemcell Information: SKIP001192 [SKIP Stemcell Database[Archive

    Lifescience Database Archive (English)

    Full Text Available SKIP001192 ... blood mononuclear cell 血中単核細胞 Diseased HPS0429 HPS0429 CiRA00142 Ci...d from a patient :Charcot-Marie-Tooth disease . ... シャルコー·マリー·トゥース病患者由来iPS細胞株。 human ES-like Research Grade Pla...ll Research and Application (CiRA), Kyoto University 京都大学iPS細胞研究所 Center for iPS Cell Research and Applicati...on (CiRA), Kyoto University 京都大学iPS細胞研究所 Yamanaka Shinya 山中 伸弥 Available RIKEN Bi...RA00142 シャルコー・マリー・トゥース病 G600 Charcot-Marie-Tooth disease 118210 ... -- -- ... Yes No iPS cell line derive

  19. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

    NARCIS (Netherlands)

    Kalaydjieva, L.; Gresham, D.; Gooding, R.; Heather, L.; Baas, F.; de Jonge, R.; Blechschmidt, K.; Angelicheva, D.; Chandler, D.; Worsley, P.; Rosenthal, A.; King, R. H.; Thomas, P. K.

    2000-01-01

    Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather than demyelination per se, is responsible for the neurological deficit in demyelinating CMT disease has focused

  20. Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

    NARCIS (Netherlands)

    van Paassen, Barbara W.; Bronk, Marieke; Verhamme, Camiel; van Ruissen, Fred; Baas, Frank; van Spaendonck-Zwarts, Karin Y.; de Visser, Marianne

    2017-01-01

    We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of

  1. Stemcell Information: SKIP001194 [SKIP Stemcell Database[Archive

    Lifescience Database Archive (English)

    Full Text Available SKIP001194 ... blood mononuclear cell 血中単核細胞 Diseased HPS0508 HPS0508 CiRA00161 Ci... line derived from a patient :Charcot-Marie-Tooth disease . ... シャルコー·マリー·トゥース病患者由来iPS細胞株。 huma...ya 山中 伸弥 Center for iPS Cell Research and Application (CiRA), Kyoto University 京都大学iPS細胞研究所 Center for iPS C...ell Research and Application (CiRA), Kyoto University 京都大学iPS細胞研究所 Yamanaka Shiny...RA00161 シャルコー・マリー・トゥース病 G600 Charcot-Marie-Tooth disease 118210 ... -- -- Japanese 日本人 Yes No Disease specific iPS cell

  2. Stemcell Information: SKIP001193 [SKIP Stemcell Database[Archive

    Lifescience Database Archive (English)

    Full Text Available SKIP001193 ... blood mononuclear cell 血中単核細胞 Diseased HPS0507 HPS0507 CiRA00160 Ci...line derived from a patient :Charcot-Marie-Tooth disease . ... シャルコー·マリー·トゥース病患者由来iPS細胞株。 human ES-like Researc... for iPS Cell Research and Application (CiRA), Kyoto University 京都大学iPS細胞研究所 Center for iPS Cell Research an...d Application (CiRA), Kyoto University 京都大学iPS細胞研究所 Yamanaka Shinya 山中 伸弥 Availab...RA00160 シャルコー・マリー・トゥース病 G600 Charcot-Marie-Tooth disease 118210 ... -- -- Japanese 日本人 Yes No iPS cell

  3. Stemcell Information: SKIP001191 [SKIP Stemcell Database[Archive

    Lifescience Database Archive (English)

    Full Text Available SKIP001191 ... blood mononuclear cell 血中単核細胞 Diseased HPS0426 HPS0426 CiRA00139 Ci... line derived from a patient :Charcot-Marie-Tooth disease . シャルコー·マリー·トゥース病患者由来iPS細胞株。 human...a 山中 伸弥 Center for iPS Cell Research and Application (CiRA), Kyoto University 京都大学iPS細胞研究所 Center for iPS Ce...ll Research and Application (CiRA), Kyoto University 京都大学iPS細胞研究所 Yamanaka Shinya...RA00139 シャルコー・マリー・トゥース病 G600 Charcot-Marie-Tooth disease 118210 ... -- -- Japanese 日本人 Yes No Disease specific iPS cell

  4. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

    NARCIS (Netherlands)

    Züchner, Stephan; de Jonghe, Peter; Jordanova, Albena; Claeys, Kristl G.; Guergueltcheva, Velina; Cherninkova, Sylvia; Hamilton, Steven R.; van Stavern, Greg; Krajewski, Karen M.; Stajich, Jeffery; Tournev, Ivajlo; Verhoeven, Kristien; Langerhorst, Christine T.; de Visser, Marianne; Baas, Frank; Bird, Thomas; Timmerman, Vincent; Shy, Michael; Vance, Jeffery M.

    2006-01-01

    OBJECTIVE: Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI). Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has

  5. De-novo mutation in hereditary motor and sensory neuropathy type I

    NARCIS (Netherlands)

    Hoogendijk, J. E.; Hensels, G. W.; Gabreëls-Festen, A. A.; Gabreëls, F. J.; Janssen, E. A.; de Jonghe, P.; Martin, J. J.; van Broeckhoven, C.; Valentijn, L. J.; Baas, F.

    1992-01-01

    Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I,

  6. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

    NARCIS (Netherlands)

    Al-Maawali, Almundher; Dupuis, Lucie; Blaser, Susan; Heon, Elise; Tarnopolsky, Mark; Al-Murshedi, Fathiya; Marshall, Christian R.; Paton, Tara; Scherer, Stephen W.; Roelofsen, Jeroen; van Kuilenburg, André B. P.; Mendoza-Londono, Roberto; Boycott, Kym; Friedman, Jan; Michaud, Jacques; Bernier, Francois; Brudno, Michael; Fernandez, Bridget; Knoppers, Bartha; Samuels, Mark; Scherer, Steve; Marcadier, Janet; Beaulieu, Chandree

    2015-01-01

    PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype

  7. Acción de la ortopodología en patologías neurológicas

    OpenAIRE

    Sacristán Valero, Sergi; Carrera Casanova, Anna; Concustell Gonfaus, Josep; Velilla Muixí, Teresa

    1991-01-01

    El presente trabajo se hace un protocolo exploratorio para el diagnóstico diferencial del pie cavo neurógeno y se describe la evolución de la enfermedad de Charcot-Marie-Tooth y el correspondiente tratamiento en las distintas fases evolutivas de la enfermedad.

  8. Studies of cellular radiosensitivity in hereditary disorders of nervous system and muscle

    Energy Technology Data Exchange (ETDEWEB)

    Brennan, S.; Lewis, P.D. (Royal Postgraduate Medical School, London (UK))

    1983-12-01

    Skin fibroblasts from patients with familial dysautonomia, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease show normal sensitivity to ionising radiation, as measured by post-irradiation clonal growth. Previous reports of cellular hypersensitivity to ionising radiation and other DNA-damaging agents in familial dysautonomia and Duchenne muscular dystrophy have not been confirmed.

  9. Studies of cellular radiosensitivity in hereditary disorders of nervous system and muscle

    International Nuclear Information System (INIS)

    Brennan, S.; Lewis, P.D.

    1983-01-01

    Skin fibroblasts from patients with familial dysautonomia, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease show normal sensitivity to ionising radiation, as measured by post-irradiation clonal growth. Previous reports of cellular hypersensitivity to ionising radiation and other DNA-damaging agents in familial dysautonomia and Duchenne muscular dystrophy have not been confirmed. (author)

  10. Na(v)1.8 channelopathy in mutant mice deficient for myelin protein zero is detrimental to motor axons

    DEFF Research Database (Denmark)

    Moldovan, Mihai; Alvarez Herrero, Susana; Pinchenko, Volodymyr

    2011-01-01

    Myelin protein zero mutations were found to produce Charcot-Marie-Tooth disease phenotypes with various degrees of myelin impairment and axonal loss, ranging from the mild 'demyelinating' adult form to severe and early onset forms. Protein zero deficient homozygous mice ( ) show a severe and prog......Myelin protein zero mutations were found to produce Charcot-Marie-Tooth disease phenotypes with various degrees of myelin impairment and axonal loss, ranging from the mild 'demyelinating' adult form to severe and early onset forms. Protein zero deficient homozygous mice ( ) show a severe...... and progressive dysmyelinating neuropathy from birth with compromised myelin compaction, hypomyelination and distal axonal degeneration. A previous study using immunofluorescence showed that motor nerves deficient of myelin protein zero upregulate the Na(V)1.8 voltage gated sodium channel isoform, which...... is normally present only in restricted populations of sensory axons. The aim of this study was to investigate the function of motor axons in protein zero-deficient mice with particular emphasis on ectopic Na(V)1.8 voltage gated sodium channel. We combined 'threshold tracking' excitability studies...

  11. Postural instability in Charcot-Marie-Tooth 1A disease.

    Science.gov (United States)

    Tozza, Stefano; Aceto, Maria Gabriella; Pisciotta, Chiara; Bruzzese, Dario; Iodice, Rosa; Santoro, Lucio; Manganelli, Fiore

    2016-09-01

    The aim of this study was to evaluate the influence of somatosensory impairment, distal muscle weakness and foot deformities on the balance in 21 CMT1A patients using a baropodometric platform. Stabilometric analysis by measuring sway area and velocity of a centre of pressure (CoP) both at open and closed eyes were used to assess postural imbalance. Static analysis, by measuring the load and the plantar surface of forefoot, midfoot and hindfoot was used to define the footprint shape and to assess as a whole foot deformities. Stabilometric and static results were compared with those of a control group. In CMT1A patients, stabilometric findings were correlated with static parameters, Achilles' tendon retraction, distal muscle strength and CMT examination score (CMTES). CMT1A patients compared to controls had lower plantar surface and load on midfoot, and higher load on a forefoot. CMT1A patients had a greater postural instability, since they had a higher CoP velocity, both at open and closed eyes. Moreover, the CoP velocity correlated inversely with the strength of ankle dorsi-flexion muscles and directly with CMTES as whole and with the item "motor symptoms legs". Postural imbalance was not correlated with sensory impairment and foot deformities as expressed by static analysis and Achilles' tendon retraction. In this study we demonstrated an altered balance in CMT1A patients during upright standing. The imbalance in our CMT patients seems to be related to the weakness of ankle dorsi-flexor muscles rather than sensory impairment or foot deformities. These results could be due to a mildly affected CMT1A population, evaluated in an early stage of the disease. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.

    Science.gov (United States)

    Panas, Marios; Kalfakis, Nikolaos; Karadima, Georgia; Davaki, Panagiota; Vassilopoulos, Demetris

    2002-11-01

    Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.

  13. Imaging findings of charcot joint

    International Nuclear Information System (INIS)

    Meng Quanfei; Zhou Chunxiang; Chen Yingming; Jiang Bo

    2003-01-01

    Objective: To analyze the MRI characters of Charcot joint, and to evaluate the diagnostic value of X-ray, CT, and MRI on Charcot joint. Methods: Eight patients with 8 Charcot joints underwent X-ray, CT, and MR examinations. 6 of them had syringomyelia, 1 patient had injury of the spinal cord, and 1 case had diabetes. All 8 patients had sensory reduction or deficit in the sick extremities. Results: There were two types of Charcot joint, hypertrophic and atrophic. Radiographic and CT features of hypertrophic joint (n=3) showed hyperostotic osteosclerosis and mammoth osteophytes in the sick bones, periarticular ossification, and articular disorganization. Radiographic and CT features of atrophic joint (n=5) showed extensive bone resorption (destruction), periarticular debris, and articular disorganization. Main MRI features of Charcot joint included hydrarthrosis within joint capsule, thickened, loose, and elongated joint capsule with para-joint, peri-diaphysis, and inter-muscular extension in a pseudopodia pattern. The irregular joint capsule wall was presented as mild hypointensity on T 1 WI, slight hyper-intensity on T 2 WI, and was markedly enhanced after Gd-DTPA was administrated, which was considered as a characteristic manifestation of the lesion. Soft tissue mass containing hypo-intense stripes on both T 1 WI and T 2 WI was commonly noted adjacent to the involved joint. Conclusion: X-rays plain film is the first choice for the diagnosis of Charcot joint, and MRI is pretty useful in the diagnosis of Charcot joint

  14. Imaging of Charcot foot; Bildgebung des Charcot-Fusses

    Energy Technology Data Exchange (ETDEWEB)

    Erlemann, Rainer; Schmitz, Annette [Helios Klinikum Duisburg, Helios St. Johannes Klinik, Duisburg (Germany). Inst. fuer Radiologie

    2014-03-15

    The onset of a Charcot foot ist a feared complication of a long lasting diabetes mellitus. A peripheral neuropathy and continuous weight bearing of the foot subsequent to repeated traumas depict the conditions. There exist three types of a Charcot foot, an atrophic, a hypertophic and a mixed type. In early stages a differentiation from osteoarthritis is difficult. Subluxation or luxation within the Lisfranc's joint is typical. The joints of the foot could rapidly and extensively be destroyed or may present the morphology of a 'superosteoarthritis'. Often, soft tissue infections or osteomyelitis evolve from ulcers of the skin as entry points. Diagnosis of osteomyelitis necessitate MR imaging as plain radiography offers only low sensitivity for detection of an osteomyelitis. The existence of periosteal reactions is not a proof for osteomyelitis. Bone marrow edema and soft tissue edema also appear in a non infected Charcot foot. The range of soft tissue infections goes from cellulitis over phlegmon to abscesses. The ghost sign is the most suitable diagnostic criterion for osteomyelitis. In addition, the penumbra sign or the existence of a sinus tract between a skin ulcer and the affected bone may be helpful. (orig.)

  15. Charcot-Marie-Tooth Disease in a Child with Acute Lymphoblastic ...

    African Journals Online (AJOL)

    Results: Facial nerve palsy, increasing lower extremities muscle weakness and abnormal gait were noticed 4 weeks into vincristine therapy in a ten year old male on treatment for acute lymphoblastic leukaemia (ALL). On a suspicion of vincristine neurotoxicity, vincristine was excluded from his chemotherapy regimen.

  16. Charcot-Marie-Tooth Disease in a Child with Acute Lymphoblastic ...

    African Journals Online (AJOL)

    Alasia Datonye

    38.6 C) with generalised non tender lymphadenopathy. His weight was 22kg ... intravenous (iv) cyclophosphamide, iv vincristine, and oral ... anti-cancer regimen and vitamin B complex was added to his .... Cancer 1996; 77: 1356-. 1362. 10.

  17. A Laminin-2, Dystroglycan, Utrophin Axis is Required for Compartmentalization and Elongation of Myelin Segments

    OpenAIRE

    Court, Felipe A.; Hewitt, Jane E.; Davies, Kay; Patton, Bruce L.; Uncini, Antonino; Wrabetz, Lawrence; Feltri, M. Laura

    2009-01-01

    Animal and plant cells compartmentalize to perform morphogenetic functions. Compartmentalization of myelin-forming Schwann cells may favor elongation of myelin segments to the size required for efficient conduction of nerve impulses. Compartments in myelinated fibers were described by Ramon-y-Cajal and depend on periaxin, mutated in the hereditary neuropathy Charcot-Marie-Tooth 4F. Lack of periaxin in mice causes loss of compartments, formation of short myelin segments (internodes) and reduce...

  18. Rosalie: the brazilian female monkey of Charcot Rosalie: a pequenina macaca brasileira de Charcot

    Directory of Open Access Journals (Sweden)

    Hélio A.G. Teive

    2005-09-01

    Full Text Available Jean-Martin Charcot, the father of Neurology, a very austere and reserved man that did not express affection freely for human being, had a profound affection to animals, particularly to a small female monkey, called "Rosalie", which came from Brazil and was a gift of Dom Pedro II to Charcot.Jean-Martin Charcot, considerado o pai da Neurologia, foi um homem de aspecto austero e reservado, que tinha dificuldades de expressar os seus sentimentos para outros seres humanos. Contudo ele tinha profunda afeição por animais, particularmente por uma pequena macaca, chamada de "Rosalie", oriunda do Brasil e que foi um presente dado a ele por Dom Pedro II.

  19. FIG4 regulates lysosome membrane homeostasis independent of phosphatase function

    OpenAIRE

    Bharadwaj, Rajnish; Cunningham, Kathleen M.; Zhang, Ke; Lloyd, Thomas E.

    2015-01-01

    FIG4 is a phosphoinositide phosphatase that is mutated in several diseases including Charcot-Marie-Tooth Disease 4J (CMT4J) and Yunis-Varon syndrome (YVS). To investigate the mechanism of disease pathogenesis, we generated Drosophila models of FIG4-related diseases. Fig4 null mutant animals are viable but exhibit marked enlargement of the lysosomal compartment in muscle cells and neurons, accompanied by an age-related decline in flight ability. Transgenic animals expressing Drosophila Fig4 mi...

  20. New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.

    Science.gov (United States)

    Floroskufi, Paraskewi; Panas, Marios; Karadima, Georgia; Vassilopoulos, Demetris

    2007-05-01

    Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. The results support the hypothesis that severe, early-onset neuropathy may be related to either an alteration of a conserved amino acid or a disruption of the tertiary structure of myelin protein zero.

  1. Charcot's osteoarthropathy

    African Journals Online (AJOL)

    destruction of bone and joint integrity affecting one or more ... confusion in diagnosis and treatment, Charcot's osteoarthropathy .... There may be no radiographic changes evident in the acute stages of the condition. ... Preventing further injury,.

  2. Clinical management of acute diabetic Charcot foot in Denmark

    DEFF Research Database (Denmark)

    Jansen, Rasmus Bo; Svendsen, Ole Lander; Kirketerp-Møller, Klaus

    2016-01-01

    INTRODUCTION: Charcot foot is a severe complication to diabetes mellitus and treatment involves several different clinical specialities. Our objective was to describe the current awareness, knowledge and treatment practices of Charcot foot among doctors who handle diabetic foot disorders. METHODS......: This study is based on a questionnaire survey sent out to healthcare professionals, primarily doctors, working with diabetic foot ulcers and Charcot feet in the public sector of the Danish healthcare system. RESULTS: The survey obtained a 52% response rate. A temperature difference of > 2 °C between the two...... and treatment practices of acute diabetic Charcot foot at diabetes foot clinics in Denmark. The responders seem to follow the international recommendations and guidelines on management of the acute diabetic Charcot foot, despite a lack of Danish guidelines. FUNDING: none. TRIAL REGISTRATION: not relevant....

  3. [Charcot's arthropathy

    DEFF Research Database (Denmark)

    Christensen, T.M.; Yderstraede, K.; Ejskjaer, N.

    2008-01-01

    Charcot's arthropathy is a rare complication to diabetes with peripheral neuropathy. The diagnosis is based on a red, oedematous foot with 2 degrees C difference in skin temperature between the affected foot compared to the unaffected foot. The condition is characterised by fractures, dislocation...

  4. Imaging of Charcot foot

    International Nuclear Information System (INIS)

    Erlemann, Rainer; Schmitz, Annette

    2014-01-01

    The onset of a Charcot foot ist a feared complication of a long lasting diabetes mellitus. A peripheral neuropathy and continuous weight bearing of the foot subsequent to repeated traumas depict the conditions. There exist three types of a Charcot foot, an atrophic, a hypertophic and a mixed type. In early stages a differentiation from osteoarthritis is difficult. Subluxation or luxation within the Lisfranc's joint is typical. The joints of the foot could rapidly and extensively be destroyed or may present the morphology of a 'superosteoarthritis'. Often, soft tissue infections or osteomyelitis evolve from ulcers of the skin as entry points. Diagnosis of osteomyelitis necessitate MR imaging as plain radiography offers only low sensitivity for detection of an osteomyelitis. The existence of periosteal reactions is not a proof for osteomyelitis. Bone marrow edema and soft tissue edema also appear in a non infected Charcot foot. The range of soft tissue infections goes from cellulitis over phlegmon to abscesses. The ghost sign is the most suitable diagnostic criterion for osteomyelitis. In addition, the penumbra sign or the existence of a sinus tract between a skin ulcer and the affected bone may be helpful. (orig.)

  5. Jean-Baptiste Charcot and Brazil

    Directory of Open Access Journals (Sweden)

    Hélio Afonso Ghizoni Teive

    2014-06-01

    Full Text Available Jean-Baptiste Charcot, a neurologist from the famous Salpêtrière school and a renowned maritime explorer, visited Brazil twice. The first visit was in 1903, when the first French Antarctic expedition, traveling aboard the ship Français, made a very short stopover in Recife, in the state of Pernambuco. The second took place in 1908, during the famous voyage of the Pourquoi Pas? to the Antarctic, when Charcot and his crew stayed in the city of Rio de Janeiro for eight days.

  6. Genetic heterogeneity of motor neuropathies.

    Science.gov (United States)

    Bansagi, Boglarka; Griffin, Helen; Whittaker, Roger G; Antoniadi, Thalia; Evangelista, Teresinha; Miller, James; Greenslade, Mark; Forester, Natalie; Duff, Jennifer; Bradshaw, Anna; Kleinle, Stephanie; Boczonadi, Veronika; Steele, Hannah; Ramesh, Venkateswaran; Franko, Edit; Pyle, Angela; Lochmüller, Hanns; Chinnery, Patrick F; Horvath, Rita

    2017-03-28

    To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 patients), axonal motor neuropathy (motor Charcot-Marie-Tooth disease [CMT2], 16 patients), or complex neurologic disease predominantly affecting the motor nerves (hereditary motor neuropathy plus, 25 patients). The prevalence of dHMN is 2.14 affected individuals per 100,000 inhabitants (95% confidence interval 1.62-2.66) in the North of England. Causative mutations were identified in 26 out of 73 index patients (35.6%). The diagnostic rate in the dHMN subgroup was 32.5%, which is higher than previously reported (20%). We detected a significant defect of neuromuscular transmission in 7 cases and identified potentially causative mutations in 4 patients with multifocal demyelinating motor neuropathy. Many of the genes were shared between dHMN and motor CMT2, indicating identical disease mechanisms; therefore, we suggest changing the classification and including dHMN also as a subcategory of Charcot-Marie-Tooth disease. Abnormal neuromuscular transmission in some genetic forms provides a treatable target to develop therapies. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  7. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

    DEFF Research Database (Denmark)

    Tracewska-Siemiątkowska, Anna; Haer-Wigman, Lonneke; Bosch, Danielle G M

    2017-01-01

    Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease....... A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported...

  8. Sciatic nerve tumor and tumor-like lesions - uncommon pathologies

    Energy Technology Data Exchange (ETDEWEB)

    Wadhwa, Vibhor; Thakkar, Rashmi S.; Carrino, John A.; Chhabra, Avneesh [Johns Hopkins University School of Medicine, Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Maragakis, Nicholas; Hoeke, Ahmet; Sumner, Charlotte J.; Lloyd, Thomas E. [Johns Hopkins University School of Medicine, Department of Neurology, Baltimore, MD (United States); Belzberg, Allan J. [Johns Hopkins University School of Medicine, Department of Neurosurgery, Baltimore, MD (United States)

    2012-07-15

    Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. (orig.)

  9. The Charcot Foot in Diabetes

    Science.gov (United States)

    Frykberg, Robert G.; Armstrong, David G.; Boulton, Andrew J.M.; Edmonds, Michael; Van, Georges Ha; Hartemann, Agnes; Game, Frances; Jeffcoate, William; Jirkovska, Alexandra; Jude, Edward; Morbach, Stephan; Morrison, William B.; Pinzur, Michael; Pitocco, Dario; Sanders, Lee; Wukich, Dane K.; Uccioli, Luigi

    2011-01-01

    The diabetic Charcot foot syndrome is a serious and potentially limb-threatening lower-extremity complication of diabetes. First described in 1883, this enigmatic condition continues to challenge even the most experienced practitioners. Now considered an inflammatory syndrome, the diabetic Charcot foot is characterized by varying degrees of bone and joint disorganization secondary to underlying neuropathy, trauma, and perturbations of bone metabolism. An international task force of experts was convened by the American Diabetes Association and the American Podiatric Medical Association in January 2011 to summarize available evidence on the pathophysiology, natural history, presentations, and treatment recommendations for this entity. PMID:21868781

  10. Ataxia heredo-degenerativa associada a hipoacusia

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1964-06-01

    Full Text Available São estudados três irmãos, respectivamente com 16, 8 e 6 anos de idade, todos do sexo masculino, com ataxia heredo-degenerativa associada, em dois dêles, a hipoacusia. Nos antecedentes há referência a moléstia semelhante em um avô e um tio-avô. É discutido o diagnóstico diferencial com a moléstia de Pièrre Marie, a doença de Charcot-Marie-Tooth, a síndrome de Refsum e a neurite intersticial hipertrófica, sendo acentuada a semelhança dos casos estudados com a moléstia de Friedreich. São feitos comentários à associação da doença de Friedreich com distúrbios da audição.

  11. A contribuição de Charcot para o estudo da síndrome de Tourette Charcot's contribution to the study of Tourette's syndrome

    Directory of Open Access Journals (Sweden)

    Hélio A.G. Teive

    2008-12-01

    Full Text Available Revisamos a história da síndrome de Tourette, com ênfase a contribuição de Jean-Martin Charcot.We review the history of Tourette syndrome, emphasizing the contribution of Jean-Martin Charcot.

  12. Charcots artropati som årsag til hypoparatyroid hyperkalcæmi

    DEFF Research Database (Denmark)

    Engberg, Susanne; Jensen, Jens-Erik Beck; Kønig, Karen Bay

    2012-01-01

    hyperthyroidism. Charcots arthropathy is not a recognized cause of hypoparathyroid hypercalcaemia, but the mechanism might be increased boneresorption. We recommend that Charcots arthropathy is considered a cause of hypoparathyroid hypercalcaemia in patients with diabetic neuropathy....

  13. Freud with Charcot: Freud's discovery and the question of diagnosis.

    Science.gov (United States)

    Lepoutre, Thomas; Villa, François

    2015-04-01

    Although Charcot's seminal role in influencing Freud is widely stated, although Freud's trip to Paris to study with Charcot is well recognized as pivotal in his shift from neurological to psychopathological work, a key fact of the Freudian heuristic remains largely underestimated: namely, that Freud's psychopathological breakthrough, which gave birth to psychoanalysis, cannot be separated from his 'diagnostic preoccupation', which is a crucial and at times the first organizing principle of his earliest writings. The purpose of this article is therefore to reopen the question of diagnosis by following its development along the path leading from Charcot to Freud. The authors demonstrate that Freud's careful attention to diagnostic distinctions follows strictly in the direction of Charcot's 'nosological method'. More importantly, the article intends to identify the precise way in which his ideas operate in Freud's own work, in order to understand how Freud reinvests them to forge his own nosological system. If the authors trace the destiny of Charcot's lessons as they reach Freud's hands, it is the importance granted to mixed neuroses in Freud's psychopathology that allows them to pinpoint the role played by the diagnostic process in the rationality of psychoanalysis. Copyright © 2014 Institute of Psychoanalysis.

  14. Den diabetiske Charcots fod

    DEFF Research Database (Denmark)

    Christensen, T.M.; Yderstraede, K.; Ejskjaer, N.

    2008-01-01

    Charcot's arthropathy is a rare complication to diabetes with peripheral neuropathy. The diagnosis is based on a red, oedematous foot with 2 degrees C difference in skin temperature between the affected foot compared to the unaffected foot. The condition is characterised by fractures, dislocation...

  15. Jean-Martin Charcot's Role in the 19th Century Study of Music Aphasia

    Science.gov (United States)

    Johnson, Julene K.; Lorch, Marjorie; Nicolas, Serge; Graziano, Amy

    2013-01-01

    Jean-Martin Charcot (1825-93) was a well-known French neurologist. Although he is widely recognized for his discovery of several neurological disorders and his research into aphasia, Charcot's ideas about how the brain processes music are less well known. Charcot discussed the music abilities of several patients in the context of his "Friday…

  16. Jean-Martin Charcot's role in the 19th century study of music aphasia.

    Science.gov (United States)

    Johnson, Julene K; Lorch, Marjorie; Nicolas, Serge; Graziano, Amy

    2013-05-01

    Jean-Martin Charcot (1825-93) was a well-known French neurologist. Although he is widely recognized for his discovery of several neurological disorders and his research into aphasia, Charcot's ideas about how the brain processes music are less well known. Charcot discussed the music abilities of several patients in the context of his 'Friday Lessons' on aphasia, which took place at the Salpêtrière Hospital in Paris in 1883-84. In his most comprehensive discussion about music, Charcot described a professional trombone player who developed difficulty copying music notation and playing his instrument, thereby identifying a new isolated syndrome of music agraphia without aphasia. Because the description of this case was published only in Italian by one of his students, Domenico Miliotti, there has been considerable confusion and under-acknowledgement of Charcot's ideas about music and the brain. In this paper, we describe Charcot's ideas regarding music and place them within the historical context of the growing interest in the neurological underpinnings of music abilities that took place in the 1880s.

  17. Pressure pain perception in the diabetic Charcot foot: facts and hypotheses

    Directory of Open Access Journals (Sweden)

    Ernst A. Chantelau

    2013-05-01

    Full Text Available Background:Reduced traumatic and posttraumatic (nociceptive pain is a key feature of diabetic neuropathy. Underlying condition is a gradual degeneration of endings of pain nerves (A-delta fibers and C-fibers, which operate as receivers of noxious stimuli (nociceptors. Hence, the absence of A-delta fiber mediated sharp pain (“first” pain, and of C-fiber mediated dull pain (“second” pain. However, patients with diabetic neuropathy and acute Charcot foot often experience deep dull aching in the Charcot foot while walking on it. Aim: To create a unifying hypothesis on the kind of pain in an acute Charcot foot. Result: Absence of punctuate (pinprick pain perception at the sole of a Charcot foot, as was shown recently, likely corresponds to vanished intraepidermal A-delta fiber endings. C-fiber nociceptors are reduced, according to histopathology studies. Both types of fibers contribute to posttraumatic hyperalgesia at the skin level, as studies show. Their deficiencies likely impact on posttraumatic hyperalgesia at the skin level and, probably, also at the skeletal level. Conclusion: It is hypothesised that deep dull aching in an acute diabetic Charcot foot may represent faulty posttraumatic hyperalgesia involving cutaneous and skeletal tissues.

  18. The effectiveness of non-surgical interventions in the treatment of Charcot foot.

    Science.gov (United States)

    Smith, Caroline; Kumar, Saravana; Causby, Ryan

    2007-12-01

    Background  Charcot neuropathic osteoarthropathy is commonly known as 'Charcot foot'. It is a serious foot complication of diabetes mellitus that can frequently lead to foot ulceration, gangrene, hospital admission and foot amputation. A multidisciplinary approach to the management of Charcot foot is taken involving medical and allied health professionals. The management approach may also differ between different countries. To date, there is no systematic review of the literature undertaken to identify the clinical effectiveness of non-operative interventions in the treatment of acute Charcot foot. Objective  The objective of this review was to identify the effectiveness of non-surgical interventions with reducing lesions, ulceration, the rate of surgical intervention, reducing hospital admissions and improve the quality of life of subjects with Charcot foot. Search strategy  A comprehensive search strategy was undertaken on databases available from University of South Australia from their inception to November 2006. Selection criteria  Randomised controlled trials or clinical controlled trials were primarily sought. Critical appraisal of study quality and data extraction was undertaken using Joanna Briggs Institute instruments. Review Manager software was used to calculate comparative statistics. Results  This review identified 11 trials and five trials were included in the review. Three trials involved the use of bisphosphonate, a pharmacological agent. Two experimental treatments were also included, evaluating palliative radiology and magnetic fields. No trials were found using immobilisation and off-loading interventions for acute Charcot foot. The overall methodological quality score of the five studies was moderate. Owing to heterogeneous data, meta-analysis could not be performed. The trials did not report on reducing lesions, ulceration, rate of surgical intervention, hospital admissions and the quality of life of subjects with Charcot foot. The

  19. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

    NARCIS (Netherlands)

    Ylikallio, Emil; Woldegebriel, Rosa; Tumiati, Manuela; Isohanni, Pirjo; Ryan, Monique M.; Stark, Zornitza; Walsh, Maie; Sawyer, Sarah L.; Bell, Katrina M.; Oshlack, Alicia; Lockhart, Paul J.; Shcherbii, Mariia; Estrada-Cuzcano, Alejandro; Atkinson, Derek; Hartley, Taila; Tetreault, Martine; Cuppen, Inge; Van Der Pol, W. Ludo; Candayan, Ayse; Battaloglu, Esra; Parman, Yesim; Van Gassen, Koen L.I.; Van Den Boogaard, Marie José H.; Boycott, Kym M.; Kauppi, Liisa; Jordanova, Albena; Lönnqvist, Tuula; Tyynismaa, Henna

    2017-01-01

    Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe

  20. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.

    Science.gov (United States)

    Lee, Sang-Soo; Lee, Hye Jin; Park, Jin-Mo; Hong, Young Bin; Park, Kee-Duk; Yoo, Jeong Hyun; Koo, Heasoo; Jung, Sung-Chul; Park, Hyung Soon; Lee, Ji Hyun; Lee, Min Goo; Hyun, Young Se; Nakhro, Khriezhanou; Chung, Ki Wha; Choi, Byung-Ok

    2013-05-01

    Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) has been reported as a rare type of autosomal dominant adult-onset Charcot-Marie-Tooth disease. HMSN-P has been described only in Japanese descendants since 1997, and the causative gene has not been found. To identify the genetic cause of HMSN-P in a Korean family and determine the pathogenic mechanism. Genetic and observational analysis. Translational research center for rare neurologic disease. Twenty-eight individuals (12 men and 16 women) from a Korean family with HMSN-P. Whole-exome sequencing, linkage analysis, and magnetic resonance imaging. Through whole-exome sequencing, we revealed that HMSN-P is caused by a mutation in the TRK-fused gene (TFG). Clinical heterogeneities were revealed in HMSN-P between Korean and Japanese patients. The patients in the present report showed faster progression of the disease compared with the Japanese patients, and sensory nerve action potentials of the sural nerve were lost in the early stages of the disease. Moreover, tremor and hyperlipidemia were frequently found. Magnetic resonance imaging of the lower extremity revealed a distinct proximal dominant and sequential pattern of muscular involvement with a clearly different pattern than patients with Charcot-Marie-Tooth disease type 1A. Particularly, endoneural blood vessels revealed marked narrowing of the lumen with swollen vesicular endothelial cells. The underlying cause of HMSN-P proves to be a mutation in TFG that lies on chromosome 3q13.2. This disease is not limited to Japanese descendants, and marked narrowing of endoneural blood vessels was noted in the present study. We believe that TFG can affect the peripheral nerve tissue.

  1. Validation of the CMT Pediatric Scale as an outcome measure of disability

    Science.gov (United States)

    Burns, Joshua; Ouvrier, Robert; Estilow, Tim; Shy, Rosemary; Laurá, Matilde; Pallant, Julie F.; Lek, Monkol; Muntoni, Francesco; Reilly, Mary M.; Pareyson, Davide; Acsadi, Gyula; Shy, Michael E.; Finkel, Richard S.

    2012-01-01

    Objective Charcot-Marie-Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT although clinical trials are increasingly occurring. Patients usually develop symptoms during the first two decades of life but there are no established outcome measures of disease severity or response to treatment. We identified a set of items that represent a range of impairment levels and conducted a series of validation studies to build a patient-centered multi-item rating scale of disability for children with CMT. Methods As part of the Inherited Neuropathies Consortium, patients aged 3–20 years with a variety of CMT types were recruited from the USA, UK, Italy and Australia. Initial development stages involved: definition of the construct, item pool generation, peer review and pilot testing. Based on data from 172 patients, a series of validation studies were conducted, including: item and factor analysis, reliability testing, Rasch modeling and sensitivity analysis. Results Seven areas for measurement were identified (strength, dexterity, sensation, gait, balance, power, endurance), and a psychometrically robust 11-item scale constructed (Charcot-Marie-Tooth disease Pediatric Scale: CMTPedS). Rasch analysis supported the viability of the CMTPedS as a unidimensional measure of disability in children with CMT. It showed good overall model fit, no evidence of misfitting items, no person misfit and it was well targeted for children with CMT. Interpretation The CMTPedS is a well-tolerated outcome measure that can be completed in 25-minutes. It is a reliable, valid and sensitive global measure of disability for children with CMT from the age of 3 years. PMID:22522479

  2. George Sigerson: Charcot's translator.

    Science.gov (United States)

    Lyons, J B

    1997-04-01

    Senator George Sigerson (1836-1925), Dublin's first neurologist, was also a significant contributor to Anglo-Irish literature. His medical career and literary accomplishments are outlined, the focus of the article being Sigerson's friendly relationship with Charcot (with whom he corresponded), and whose Leçons sur les maladies du système nerveux he translated.

  3. Lack of on-going adaptations in the soleus muscle activity during walking in patients affected by large-fiber neuropathy

    DEFF Research Database (Denmark)

    Nazarena, Mazzaro; Grey, Michael James; Sinkjær, Thomas

    2005-01-01

    The aim of this study was to investigate the contribution of feedback from large-diameter sensory fibers to the adaptation of soleus muscle activity after small ankle trajectory modifications during human walking. Small-amplitude and slow-velocity ankle dorsiflexion enhancements and reductions were...... applied during the stance phase of the gait cycle to mimic the normal variability of the ankle trajectory during walking. Patients with demyelination of large sensory fibers (Charcot-Marie-Tooth type 1A and antibodies to myelin-associated glycoprotein neuropathy) and age-matched controls participated...... duration (P ankle dorsiflexion was, respectively, enhanced or reduced. In the patients, the soleus EMG increased during the dorsiflexion...

  4. NERVE EXCITABILITY CHANGES AFTER NA(V)1.8 CHANNEL BLOCKER TREATMENT IN MICE DEFICIENT OF MYELIN PROTEIN P-0

    DEFF Research Database (Denmark)

    Moldovan, M.; Rosberg, M. R.; Alvarez Herrero, Susana

    2016-01-01

    Mice deficient of myelin protein zero (P0) are established models of demyelinating Charcot-Marie-Tooth (CMT) disease. Recent work form our laboratory indicated that in severely affected P0−/− as well as in P0+/− (modeling CMT1B), the neuropathy is aggravated by associated changes in voltage...... function up to 2 hours after the blockers. Overall, the baseline excitability measures were much more abnormal in P0−/− at 4 months as compared to P0+/− at 20 months. Nevertheless, in both models, the NaV1.8 blockers produced similar deviations in excitability at a dose of 100 mg/Kg. Most notably...

  5. Jean-Martin Charcot and Parkinson's disease: Teaching and teaching materials.

    Science.gov (United States)

    Walusinski, O

    2018-04-10

    James Parkinson's 1817 seminal article was not well known in France until 1861, when Jean-Martin Charcot and his friend, Alfred Vulpian, published a detailed description in French of paralysis agitans. Their article provided clinical information to help French physicians make an accurate diagnosis by considering gait, shaking and rigidity as well as masked facies. As Charcot always had a strong desire to teach, this article describes his lessons on Parkinson's disease from 1868 to 1888, and also examines the teaching approach he used to pass on his latest findings to his students and colleagues. Charcot also used his role as thesis advisor to disseminate Parkinson's work, and seven of the theses he oversaw, which until now have been overlooked, reveal another facet of his teacher-student relationship. These dissertations provided Charcot with an opportunity to highlight what he had already identified concerning what is today referred to as 'Parkinson-plus syndromes'. Finally, this report concludes with an historical survey of the teaching materials that Paul Richer and Albert Londe developed for the Master at La Salpêtrière to provide him with visual documentation. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  6. Bone mineral density in diabetes mellitus patients with and without a Charcot foot

    DEFF Research Database (Denmark)

    Christensen, Tomas M; Bülow, Jens; Simonsen, Lene

    2010-01-01

    To measure bone mineral density in patients with diabetes mellitus and the complication Charcot osteoarthropathy (CA).......To measure bone mineral density in patients with diabetes mellitus and the complication Charcot osteoarthropathy (CA)....

  7. Charcot and vascular Parkinsonism

    Directory of Open Access Journals (Sweden)

    Hélio A. G. Teive

    Full Text Available ABSTRACT Jean-Martin Charcot (1825-1893, recognized as the founder of Neurology and the first formal teacher of nervous system diseases, died on August 16, 1893, from acute pulmonary edema secondary to myocardial infarction. In his last years, there were several descriptions of his gait and posture disorders, suggesting the diagnosis of “lower-half parkinsonism” due to cerebrovascular disease.

  8. 75 FR 38718 - Safety Zone; Sault Sainte Marie 4th of July Fireworks, St. Mary's River, Sault Sainte Marie, MI

    Science.gov (United States)

    2010-07-06

    ... temporary safety zone on the St. Mary's River, Sault Sainte Marie, Michigan. This zone is intended to..., St. Mary's River, Sault Sainte Marie, MI (a) Location. The following area is a temporary safety zone...-AA00 Safety Zone; Sault Sainte Marie 4th of July Fireworks, St. Mary's River, Sault Sainte Marie, MI...

  9. Clinical management of acute diabetic Charcot foot in Denmark

    DEFF Research Database (Denmark)

    Jansen, Rasmus Bo; Svendsen, Ole Lander; Kirketerp-Møller, Klaus

    2016-01-01

    INTRODUCTION: Charcot foot is a severe complication to diabetes mellitus and treatment involves several different clinical specialities. Our objective was to describe the current awareness, knowledge and treatment practices of Charcot foot among doctors who handle diabetic foot disorders. METHODS...... for offloading (83%). All centres use some form of a multidisciplinary team, with the most common permanent members being orthopaedic surgeons (71%), wound specialist nurses (76%), podiatrists (65%), endocrinologists (47%) and diabetes specialist nurses (41%). CONCLUSION: We conducted a survey of the diagnosis...

  10. Charcot's osteoarthropathy: An increased awareness of this ...

    African Journals Online (AJOL)

    Charcot's osteoarthropathy: An increased awareness of this condition may help in enabling an earlier diagnosis, instituting appropriate treatment, and preventing severe deformity and disability. T Johnson ...

  11. Etiology, pathophysiology and classifications of the diabetic Charcot foot

    Science.gov (United States)

    Papanas, Nikolaos; Maltezos, Efstratios

    2013-01-01

    In people with diabetes mellitus, the Charcot foot is a specific manifestation of peripheral neuropathy that may involve autonomic neuropathy with high blood flow to the foot, leading to increased bone resorption. It may also involve peripheral somatic polyneuropathy with loss of protective sensation and high risk of unrecognized acute or chronic minor trauma. In both cases, there is excess local inflammatory response to foot injury, resulting in local osteoporosis. In the Charcot foot, the acute and chronic phases have been described. The former is characterized by local erythema, edema, and marked temperature elevation, while pain is not a prominent symptom. In the latter, signs of inflammation gradually recede and deformities may develop, increasing the risk of foot ulceration. The most common anatomical classification describes five patterns, according to the localization of bone and joint pathology. This review article aims to provide a brief overview of the diabetic Charcot foot in terms of etiology, pathophysiology, and classification. PMID:23705058

  12. Jean-Martin Charcot and art: relationship of the "founder of neurology" with various aspects of art.

    Science.gov (United States)

    Bogousslavsky, Julien; Boller, François

    2013-01-01

    Jean-Martin Charcot (1825-1893), the "father of neurology" in France and much beyond, was also the man who established academic psychiatry in Paris, differentiating it from clinical alienism. In his teaching, he used artistic representations from previous centuries to illustrate the historical developments of hysteria, mainly with the help of his pupil Paul Richer. Charcot liked to draw portraits (in particular, sketches of colleagues during boring faculty meetings and students' examinations), caricatures of himself and others, church sculptures, landscapes, soldiers, etc. He also used this skill in his clinical and scientific work; he drew histological or anatomic specimens, as well as patients' features and demeanor. His most daring artistic experiments were drawing under the influence of hashish. Charcot's tastes in art were conservative; he displayed no affinity for the avant-gardes of his time, including impressionism, or for contemporary musicians, such as César Franck or Hector Berlioz. Léon Daudet, son of Charcot's former friend and famous writer Alphonse Daudet, described Charcot's home as a pseudo-gothic kitsch accumulation of heteroclite pieces of furniture and materials. However, as Henry Meige wrote a few years after his mentor's death, Charcot the artist remains "inseparable from Charcot the physician." © 2013 Elsevier B.V. All rights reserved.

  13. A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.

    Science.gov (United States)

    Miura, Shiroh; Morikawa, Takuya; Fujioka, Ryuta; Noda, Kazuhito; Kosaka, Kengo; Taniwaki, Takayuki; Shibata, Hiroki

    2017-09-01

    Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose chief complaint was slowly progressive gait disturbance and limb dysesthesia that appeared at the age of 47. On neurological examination, he showed hyporeflexia or areflexia, distal limb muscle weakness, and distal sensory impairment with lower dominancy. Nerve conduction studies demonstrated demyelinating sensorimotor neuropathy with reduced action potentials in the lower limbs. Case 2 was an 80-year-old man, Case 1's father, who reported difficulty in riding a bicycle at the age of 76. On neurological examination, he showed areflexia in the upper and lower limbs. Distal sensory impairment in the lower limbs was also observed. Nerve conduction studies revealed mainly axonal involvement. Exome sequencing identified a novel heterozygous nonsynonymous variant (NM_021629.3:c.659T > C [p.Gln220Arg]) in GNB4 exon 8, which is known to be responsible for CMT. Sanger sequencing confirmed that both patients are heterozygous for the variation, which causes an amino acid substitution, Gln220Arg, in the highly conserved region of the WD40 domain of GNB4. The frequency of this variant in the Exome Aggregation Consortium Database was 0.000008247, and we confirmed its absence in 502 Japanese control subjects. We conclude that this novel GNB4 variant is causative for CMTDIF in these patients, who represent the first record of the disease in the Japanese population. Copyright © 2017. Published by Elsevier Masson SAS.

  14. Surgical Reconstruction of Charcot Foot Neuroarthropathy, a Case Based Review

    Directory of Open Access Journals (Sweden)

    Tomáš Kučera

    2014-01-01

    Full Text Available Our case-based review focuses on limb salvage through operative management of Charcot neuroarthropathy of the diabetic foot. We describe a case, when a below-knee amputation was considered in a patient with chronic Charcot foot with a rocker-bottom deformity and chronic plantar ulceration. Conservative treatment failed. Targeted antibiotic therapy and operative management (Tendo-Achilles lengthening, resectional arthrodesis of Lisfranc and midtarsal joints, fixation with large-diameter axial screws, and plaster cast were performed. On the basis of this case, we discuss options and drawbacks of surgical management. Our approach led to healing of the ulcer and correction of the deformity. Two years after surgery, we observed a significant improvement in patient’s quality of life. Advanced diagnostic and imaging techniques, a better understanding of the biomechanics and biology of Charcot neuroarthropathy, and suitable osteosynthetic material enables diabetic limb salvage.

  15. Charcot-Marie-Tooth disease: The development of a diagnostic platform using next generation sequencing

    DEFF Research Database (Denmark)

    Christensen, Rikke; Væth, Signe; Thorsen, Kasper

    , Sanger sequencing of 4 genes have led to a diagnosis in approximately 30% of the patients. Aims: 1) Development of a targeted NGS platform containing 63 genes that currently are found to be associated with CMT. 2) Analysis of the increased diagnostic yield using this platform to analyze 200 CMT samples...... previously analyzed using Sanger sequencing without identification of a disease causing mutation. Materials and Methods: Libraries for 200 patient samples obtained for CMT diagnostics were prepared using Illumina Truseq and target enrichment using SeqCap EZ Choise Library (Nimblegen). The libraries were...

  16. Connexin: a potential novel target for protecting the central nervous system?

    Directory of Open Access Journals (Sweden)

    Hong-yan Xie

    2015-01-01

    Full Text Available Connexin subunits are proteins that form gap junction channels, and play an important role in communication between adjacent cells. This review article discusses the function of connexins/hemichannels/gap junctions under physiological conditions, and summarizes the findings regarding the role of connexins/hemichannels/gap junctions in the physiological and pathological mechanisms underlying central nervous system diseases such as brain ischemia, traumatic brain and spinal cord injury, epilepsy, brain and spinal cord tumor, migraine, neuroautoimmune disease, Alzheimer′s disease, Parkinson′s disease, X-linked Charcot-Marie-Tooth disease, Pelizaeus-Merzbacher-like disease, spastic paraplegia and maxillofacial dysplasia. Connexins are considered to be a potential novel target for protecting the central nervous system.

  17. Neurite hipertrófica intersticial: estudo de três casos

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1978-09-01

    Full Text Available São relatados 3 casos de neuropatia hipertrófica intersticial que apresentam conduções nervosas motoras bastante reduzidas; no estudo anatomopatológico foram encontradas estruturas em forma de "casca de cebola", com proliferação de tecido conjuntivo. São abordadas as teorias sobre a formação das "cascas de cebola" e a correlação com a diminuição da velocidade de condução nervosa. Os autores concluem que somente um dos casos corresponde a descrição original de Dejerine-Sottas, sendo que os outros são provavelmente doença de Charcot-Marie-Tooth.

  18. Organization experience of diagnostic and medicosocial services for patients with Charcot—Marie—Tooth disease in Krasnoyarsk region

    Directory of Open Access Journals (Sweden)

    E. V. Glushchenko

    2012-01-01

    Full Text Available Hereditary neuropathy Charcot-Marie-Tooth (CMT is the most common form of hereditary polyneuropathies. Goal of the study was the development of evidence-based diagnostic and treatment algorithms using patients with CMT (for example, in Krasnoyarsk Territory.Materials and methods: A total of 324 people. (probands and their relatives 1 and 2 lines of kinship. We analyzed 125 (38,5 % clinical cases of CMT, 64/125 (51,2 % clinical cases were include to statistical analysis (probands and their family trees, past the full range of clinical and laboratory findings according to the protocol this study. Age ranged from 6 to 81 years, median age — 30,5 years, including women 24 (37,5 %, median age — 33,5 years; males 40 (62,5 %, median age — 28,5 years. Methods of diagnosis: clinical, genetic, neurophysiological, molecular genetic, assessment of quality of life assessment of anxiety and depression.Results: The family history of CMT noted in 53/57 (93,0 % cases, with a predominance of autosomal dominant type of inheritance —52 (91,2 % cases. As a result of DNA testing duplication of peripheral myelin protein gene (RMR22 on chromosome 17, held 34 survey, this mutation was found in 17 (50,0 % patients. Modified method of computer esthesiometry for CMT diagnosis using domestic diagnostic equipment “Vibrotester-MBN” BT-02-1 has a high sensitivity in the early stages of the disease and can be recommended for more widespread adoption of on par with other subjects of the Russian Federation.

  19. Angiographic assessment of atherosclerotic load at the lower extremity in patients with diabetic foot and charcot neuro-arthropathy.

    Science.gov (United States)

    Çildağ, Mehmet B; Ertuğrul, Bülent M; Köseoğlu, Ömer Fk; Çildağ, Songül; Armstrong, David G

    2018-06-01

    The aim of this study was to investigate atherosclerotic load at the lower extremity in patients with diabetic foot and charcot neuro-arthropathy and compare them with patients with diabetic foot without charcot neuro-arthropathy. This retrospective study consists of 78 patients with diabetic foot who had lower extremity angiography with antegrade approach. All patients were classified into two groups; neuro ischemic wounds with charcot neuro-arthropathy (30/78) and without charcot neuro-arthropathy (48/78).Atherosclerotic load at the side of diabetic foot was determined by using the Bollinger angiogram scoring method. Comparison of atherosclerotic load between the two groups was performed. The mean of total and infrapopliteal level angiogram scoring of all patients was 33.3 (standard deviation, sd:±17.2) and 29.3 (sd:±15.6), respectively. The mean of total and infrapopliteal level angiogram scoring of neuroischemic wounds with charcot neuro-arthropathy group was 18.1 (sd:±11.6) and 15.7 (sd:±10.4), respectively. The mean of total and infrapopliteal level angiogram scoring of neuroischemic wounds without charcot neuro-arthropathy group was 42.8 (sd:±12.7) and 37.7 (sd:±12.0), respectively. There was a statistically significant difference between the two groups of mean total and infrapopliteal angiogram scoring (p diabetic foot and chronic charcot neuro-arthropathy is significantly less than in patients with neuroischemic diabetic foot wounds without chronic charcot neuro-arthropathy. Copyright © 2017. Published by Elsevier Taiwan LLC.

  20. Bone mineral density and markers of bone turnover and inflammation in diabetes patients with or without a Charcot foot

    DEFF Research Database (Denmark)

    Jansen, Rasmus Bo; Christensen, Tomas Møller; Bülow, Jens

    2018-01-01

    BACKGROUND AND AIMS: Charcot foot is a rare but severe complication to diabetes and peripheral neuropathy. It is still unclear if an acute Charcot foot has long-term effects on the bone metabolism. To investigate this, we conducted a follow-up study to examine if a previously acute Charcot foot has...... any long-term effects on bone mineral density (BMD) or local or systemic bone metabolism. METHODS: An 8.5-year follow-up case-control study of 44 individuals with diabetes mellitus, 24 of whom also had acute or chronic Charcot foot at the baseline visit in 2005-2007, who were followed up in 2015......RANK-L/OPG ratio also significantly decreased from baseline to follow-up in the Charcot group (3.4 versus 0.5) (p = 0.009), but not in the control group (1.3 versus 1.1) (p = 0.302). CONCLUSION: We found that diabetes patients with an acute Charcot foot have an elevated fsRANK-L/OPG ratio, and that the level...

  1. Charcot arthropathy of the lumbar spine treated using one-staged posterior three-column shortening and fusion.

    Science.gov (United States)

    David, Kenny Samuel; Agarwala, Amit Omprakash; Rampersaud, Yoga Raja

    2010-06-15

    Case report. We present a case of lumbar Charcot arthropathy successfully treated surgically using posterior 3-column resection, spinal shortening, and fusion. The operative treatment of Charcot arthropathy of the spine has conventionally been a combination of anterior and posterior surgery. The morbidity associated with these surgical procedures can be considerable. A posterior-only approach to the problem would avoid the additional morbidity associated with an anterior approach. We present a case of lumbar Charcot arthropathy with deformity treated successfully using such a procedure. Discussion of the patient's clinical and radiologic history, the technical merits of the operative intervention and a review of the relevant background literature are presented. A multilevel, single-stage, posterior 3-column resection with primary shortening and instrumented fusion augmented with rhBMP2 in a multiply operated patient with deformity provided a optimal biologic and mechanical environment for healing of the Charcot arthropathy and improved the sagittal and coronal profile of the spine. A single-stage, multilevel, posterior 3-column resection and primary shortening can be a useful surgical strategy in symptomatic patients with Charcot arthropathy of the spine.

  2. What lessons can history teach us about the Charcot foot?

    Science.gov (United States)

    Sanders, Lee J

    2008-01-01

    Regrettably, physicians today receive very little instruction in the history of medicine. Most health care providers have a very limited, contemporary knowledge of the condition that we know of as the Charcot foot. Yet, historical concepts of the pathogenesis and natural history of this condition provide us with important lessons that enhance our understanding, recognition, and management of this rare but debilitating neurogenic arthropathy. It is my belief that knowledge of the history of medicine provides us with a better understanding of present-day issues and clearer vision as we look to the future. This article describes some of the important lessons learned from the history of the Charcot foot.

  3. Data Mining for Identifying Novel Associations and Temporal Relationships with Charcot Foot

    Directory of Open Access Journals (Sweden)

    Michael E. Munson

    2014-01-01

    Full Text Available Introduction. Charcot foot is a rare and devastating complication of diabetes. While some risk factors are known, debate continues regarding etiology. Elucidating other associated disorders and their temporal occurrence could lead to a better understanding of its pathogenesis. We applied a large data mining approach to Charcot foot for elucidating novel associations. Methods. We conducted an association analysis using ICD-9 diagnosis codes for every patient in our health system (n=1.6 million with 41.2 million time-stamped ICD-9 codes. For the current analysis, we focused on the 388 patients with Charcot foot (ICD-9 713.5. Results. We found 710 associations, 676 (95.2% of which had a P value for the association less than 1.0×10−5 and 603 (84.9% of which had an odds ratio > 5.0. There were 111 (15.6% associations with a significant temporal relationship P<1.0×10−3. The three novel associations with the strongest temporal component were cardiac dysrhythmia, pulmonary eosinophilia, and volume depletion disorder. Conclusion. We identified novel associations with Charcot foot in the context of pathogenesis models that include neurotrophic, neurovascular, and microtraumatic factors mediated through inflammatory cytokines. Future work should focus on confirmatory analyses. These novel areas of investigation could lead to prevention or earlier diagnosis.

  4. Jean-Baptiste Charcot in Rio de Janeiro: glamorous trip and celebrity in 1908

    Directory of Open Access Journals (Sweden)

    Hélio A. G. Teive

    2015-09-01

    Full Text Available The authors review the visit of Commander Charcot and the crew of his ship, the “Pourquoi Pas?”, to Rio de Janeiro, Brazil, in 1908, where he stayed for eight days, while en-route as part of the second French expedition to the Antarctic. It was a glamorous stay as Commander Charcot was treated as a true star and international celebrity, befitting his position.

  5. Marie Curie's heritage

    International Nuclear Information System (INIS)

    Pajot, Ph.; Schaeffer, A.; Barhelemy, P.

    2011-01-01

    This issue is almost entirely dedicated to Marie Curie. The first part gives the main steps of her life, an article draws a parallel with Lise Meitner's life, another describes the instruments Marie Curie used to measure radioactivity and a third one gives an idea of the network of scientists she integrated. The second part presents the scientific heritage of Marie Curie, first the curietherapy then medical imaging and radiocarbon dating. The third part presents other achievements and commitments of Marie Curie concerning the place of women in a modern society and the social changes trough scientific progress. (A.C.)

  6. Charcot joint-like changes following ankle fracture in a patient with no underlying disease: report of a rare case.

    Science.gov (United States)

    Kumagai, Masaru; Yokota, Kiyoshi; Endoh, Toshiya; Takemoto, Hitoshi; Nagata, Kensei

    2002-01-01

    Charcot joint is a disease that often occurs in patients with diabetes mellitus, tabes dorsalis, syringomyelia, chronic alcoholism, leprosy, trauma, or infection after fractures and dislocations. The treatment for Charcot joint has various complications, such as skin lesions, infections, and delayed union. We present our experience with a male patient who developed Charcot joint-like changes without diabetes mellitus or any other disease after an ankle fracture due to minor trauma.

  7. Preoperative imaging of charcot neuroarthropathy. Does the additional application of 18F-FDG-PET make sense?

    International Nuclear Information System (INIS)

    Hoepfner, S.; Krolak, C.; Kessler, S.; Tiling, R.

    2006-01-01

    With about 4 million diabetics in Germany and presumed inclination over the following years the treatment of diabetic complications like diabetic foot will become an even more important point. The management of Charcot's foot has undergone fundamental change in the last few years. Formerly, treatment was almost exclusively limited to non surgical measures; since the late 1990's, however, current practice has shifted to early, stage-appropriate surgical therapy. The aim of the present prospective study was to investigate the value of positron emission tomography (PET) in the pre-operative work-up of Charcot's foot. PET were compared to magnetic resonance tomography (MRI). Patients, methods: MRI and PET imaging were used as part of the preoperative work-up in 18 patients with Type II diabetes mellitus. The diagnosis of Charcot's foot requiring surgical treatment were made on the basis of clinical and radiologic criteria. Results: of 46 Charcot's lesions confirmed at surgery, 44 and 35 were detected by means of PET and MRI, respectively. PET can be used in the work-up of patients with metal implants where the MRI does not show adequate findings. PET shows the areas of detritus formation exhibit only moderately increased glucose metabolism and at visual interpretation do not usually impress as typical for acute osteomyelitis. Average SUV values stood at 1.2 (range: 0.5-2.9). Conclusions: the differentiation between Charcot's lesions and floride osteomyelitis provides the surgeon with important additional information, which is often unavailable from MRI. Because of this important additional data, PET could be considered preferable to morphologic imaging (CT, projection radiography) in the preoperative work-up of Charcot's foot. (orig.)

  8. Serial casting for reconstruction of a deformed Charcot foot: a case report.

    Science.gov (United States)

    Rosenblum, Jonathan I; Weiss, Shmuel; Gazes, Michael; Amit-Kohn, Michal

    2015-05-01

    Charcot neuroarthropathy may occur in patients with peripheral neuropathy who do not notice pain while their bones and joints collapse or breakdown under the constant pressure of body weight. This can lead to ulcerations from severe deformity and potentially limb-threatening and life-threatening infections. Current treatments vary from immobilization to extensive reconstructive surgical interventions. Serial casting, used to correct many pediatric deformities while bones are often more pliable, was used with a 63-year-old male patient who presented with an active phase of Charcot foot with ulceration. The patient previously underwent foot reconstruction and had all hardware removed prior to serial casting. Due to the potential pliability of the bones, serial casting was attempted to reform the shape and position of the foot in a reverse Ponseti-type serial casting to create a more stable structure with less deformity that could lead to epithelial breakdown. The patient regained full ambulation with a plantargrade foot and no wounds, and was followed without complications for 36 months. Serial weekly casting was an effective modality for treatment of this patient's Charcot foot deformity.

  9. Reliability of AOFAS diabetic foot questionnaire in Charcot arthropathy: stability, internal consistency, and measurable difference.

    Science.gov (United States)

    Dhawan, Vibhu; Spratt, Kevin F; Pinzur, Michael S; Baumhauer, Judith; Rudicel, Sally; Saltzman, Charles L

    2005-09-01

    The development of Charcot changes is known to be associated with a high rate of recurrent ulceration and amputation. Unfortunately, the effect of Charcot arthropathy on quality of life in diabetic patients has not been systematically studied because of a lack of a disease-specific instrument. The purpose of this study was to develop and test an instrument to evaluate the health-related quality of life of diabetic foot disease. Subjects diagnosed with Charcot arthropathy completed a patient self-administered questionnaire, and clinicians completed an accompanying observational survey. The patient self-administered questionnaire was organized into five general sections: demographics, general health, diabetes-related symptoms, comorbidities, and satisfaction. The scales measured the effect in six health domains: 1) general health, 2) care, 3) worry, 4) sleep, 5) emotion, and 6) physicality. The psychometric properties of the scales were evaluated and the summary scores for the Short-Form Health Survey (SF-36) were compared to published norms for other major medical illnesses. Of the 89 enrolled patients, 57 who completed the questionnaire on enrollment returned a second completed form at 3-month followup. Over the 3-month followup period most of the patients showed an improvement in the Eichenholtz staging. The internal consistency of most was moderate to high and, in general, the scale scores were stable over 3 months. However, several of the scales suffered from low-ceiling or high-floor effects. Patients with Charcot arthropathy had a much lower physical component score on enrollment than the reported norms for other disease conditions, including diabetes. Quality of life represents an important set of outcomes when evaluating the effectiveness of treatment for patients with Charcot arthropathy. This study represents an initial attempt to develop a standardized survey for use with this patient population. Further studies need to be done with larger groups of

  10. Salient features and outcomes of Charcot foot – An often-overlooked diabetic complication: A 17-year-experience at a diabetic center in Bangkok

    Directory of Open Access Journals (Sweden)

    Yotsapon Thewjitcharoen

    2018-03-01

    Full Text Available Background: Charcot foot is a rare but a serious diabetic condition. Recognition of this often overlooked condition to provide timely and proper management is important for a better prognosis. Limited data on Charcot foot was available in Asians. Aims: The aim of this study is to describe salient features and outcomes of Charcot foot in Thai patients. Method: We presented our experience of 40 cases of Charcot foot patients who were treated from 2000 to 2016 at Theptarin Hospital, Bangkok, Thailand. Results: A total of 40 Charcot foot patients were identified (13 acute, 27 chronic; mean age 58.7 ± 10.2 years; duration of diabetes 18.0 ± 8.8 years; T2DM 95%. The average serum HbA1c level was 9.2 ± 1.9%. While acute Charcot foot was frequently misdiagnosed as cellulitis in almost one-third of patients, osteomyelitis was a leading cause of misdiagnosis in 15% of chronic Charcot foot patients. Ulcer-free rate at 6 and 12 months were observed in 60% and 58% of patients, respectively. The mortality rate was 13% during a median follow-up period of 57 months. Only 61% of the patients resumed walking normally while almost one-fourth of them were wheelchair-bound. Conclusions: Charcot foot in Thai patients mainly developed in long-standing poorly controlled type 2 diabetes with neuropathy, and presented late in the course of the disease. It was often misdiagnosed resulting in improper management and poor outcome which included amputation. Keywords: Charcot foot, Outcomes, Thailand

  11. Kaks Mari Vaalas / Eha Komissarov

    Index Scriptorium Estoniae

    Komissarov, Eha, 1947-

    1999-01-01

    9. nov.-st galeriis 'Vaal' Mari Roosvaldi maalinäitus 'Persoon'; 10. nov.-st galerii keldrisaalis Mari Kurismaa 'Matemaatika ja metafüüsika'. Mari Roosvaldi kollaazhides on ühendatud maal ja foto.

  12. Preoperative imaging of charcot neuroarthropathy. Does the additional application of {sup 18}F-FDG-PET make sense?

    Energy Technology Data Exchange (ETDEWEB)

    Hoepfner, S. [Abt. fuer Diagnostische Radiologie, Universitaetsklinikum Giessen und Marburg, Standort Giessen (Germany); Krolak, C. [Inst. fuer Klinische Radiologie, Klinikum der Ludwig-Maximilians-Univ. Muenchen (Germany); Kessler, S. [Chirurgische Klinik und Poliklinik, Klinikum der Ludwig-Maximilians-Univ. Muenchen (Germany); Tiling, R. [Klinik und Poliklinik fuer Nuklearmedizin, Klinikum der Ludwig-Maximilians-Univ. Muenchen (Germany)

    2006-07-01

    With about 4 million diabetics in Germany and presumed inclination over the following years the treatment of diabetic complications like diabetic foot will become an even more important point. The management of Charcot's foot has undergone fundamental change in the last few years. Formerly, treatment was almost exclusively limited to non surgical measures; since the late 1990's, however, current practice has shifted to early, stage-appropriate surgical therapy. The aim of the present prospective study was to investigate the value of positron emission tomography (PET) in the pre-operative work-up of Charcot's foot. PET were compared to magnetic resonance tomography (MRI). Patients, methods: MRI and PET imaging were used as part of the preoperative work-up in 18 patients with Type II diabetes mellitus. The diagnosis of Charcot's foot requiring surgical treatment were made on the basis of clinical and radiologic criteria. Results: of 46 Charcot's lesions confirmed at surgery, 44 and 35 were detected by means of PET and MRI, respectively. PET can be used in the work-up of patients with metal implants where the MRI does not show adequate findings. PET shows the areas of detritus formation exhibit only moderately increased glucose metabolism and at visual interpretation do not usually impress as typical for acute osteomyelitis. Average SUV values stood at 1.2 (range: 0.5-2.9). Conclusions: the differentiation between Charcot's lesions and floride osteomyelitis provides the surgeon with important additional information, which is often unavailable from MRI. Because of this important additional data, PET could be considered preferable to morphologic imaging (CT, projection radiography) in the preoperative work-up of Charcot's foot. (orig.)

  13. Artropatia de charcot do mediopé no paciente diabético: complicação de uma doença epidêmica Mid-foot charcot arthropathy in diabetic patients: complication of an epidemic disease

    Directory of Open Access Journals (Sweden)

    Ricardo Cardenuto Ferreira

    2012-10-01

    Full Text Available OBJETIVOS: Traçar o perfil epidemiológico dos pacientes diabéticos portadores de artropatia de Charcot acometendo exclusivamente o mediopé ou estendendo-se do mediopé ao retropé. Avaliar, a médio prazo, o resultado do tratamento a que esses pacientes são submetidos seguindo um protocolo preestabelecido. MÉTODOS: Avaliamos, retrospectivamente, 88 pacientes (110 extremidades portadores de artropatia de Charcot do mediopé, com seguimento mínimo de 12 meses. Incluímos os pacientes portadores de artropatia de Charcot acometendo as articulações tarsometatársicas, 45 pacientes (51%; as articulações talonavicular, calcaneocuboide e subtalar, 20 pacientes (23%; e aqueles com envolvimento do mediopé e retropé, 23 pacientes (26%, segundo Brodsky e Trepman. Definimos como sucesso a preservação de um pé funcional e insucesso como amputação do pé. RESULTADOS: O tratamento da artropatia de Charcot envolvendo primariamente o mediopé foram satisfatórios em 75 pacientes (85% tratados seguindo nosso protocolo. Nos pacientes com lesões graves, acometendo tanto o mediopé quanto o retropé, foi necessário maior número de cirurgias complexas do tipo artrodese para se obter o mesmo índice global de resultados satisfatórios. A lesão osteoarticular originada no mediopé provavelmente estende-se progressivamente ao retropé devido à demora no diagnóstico no início do tratamento adequado. CONCLUSÃO: Foi possível preservar uma extremidade funcional em 85% dos pacientes. Lesões graves envolvendo o mediopé e estendendo-se ao retropé necessitaram maior número de cirurgias para o tratamento.OBJECTIVES: To outline the epidemiological profile of diabetic patients with Charcot arthropathy affecting the midfoot alone or extending from the midfoot to the hindfoot; To assess the results from the treatment that these patients undergo, according to a preestablished protocol, over the medium term. METHODS: We retrospectively evaluated 88

  14. Mary M Mader

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education. Mary M Mader. Articles written in Resonance – Journal of Science Education. Volume 2 Issue 1 January 1997 pp 53-59 General Article. Fostering Creativity in Students A Short Synthesis Project for the Organic Chemistry Laboratory · Mary M Mader Charles A ...

  15. Mortality associated with acute Charcot foot and neuropathic foot ulceration

    NARCIS (Netherlands)

    van Baal, Juliette; Hubbard, Richard; Game, Fran; Jeffcoate, William

    2010-01-01

    To compare the mortality of patients with an acute Charcot foot with a matched population with uninfected neuropathic foot ulcers (NFUs). Data were extracted from a specialist departmental database, supplemented by hospital records. The findings were compared with the results of earlier populations

  16. Functional recovery of regenerating motor axons is delayed in mice heterozygously deficient for the myelin protein P(0) gene

    DEFF Research Database (Denmark)

    Rosberg, Mette Romer; Alvarez, Susana; Krarup, Christian

    2013-01-01

    Mice with a heterozygous knock-out of the myelin protein P0 gene (P0+/-) develop a neuropathy similar to human Charcot-Marie-Tooth disease. They are indistinguishable from wild-types (WT) at birth and develop a slowly progressing demyelinating neuropathy. The aim of this study was to investigate...... whether the regeneration capacity of early symptomatic P0+/- is impaired as compared to age matched WT. Right sciatic nerves were lesioned at the thigh in 7-8 months old mice. Tibial motor axons at ankle were investigated by conventional motor conduction studies and axon excitability studies using...... threshold tracking. To evaluate regeneration we monitored the recovery of motor function after crush, and then compared the fiber distribution by histology. The overall motor performance was investigated using Rotor-Rod. P0+/- had reduced compound motor action potential amplitudes and thinner myelinated...

  17. An oral Na(V)1.8 blocker improves motor function in mice completely deficient of myelin protein P-0

    DEFF Research Database (Denmark)

    Rosberg, Mette R.; Alvarez Herrero, Susana; Krarup, Christian

    2016-01-01

    Mice deficient of myelin protein P0 are established models of demyelinating Charcot-Marie-Tooth (CMT) disease. Dysmyelination in these mice is associated with an ectopic expression of the sensory neuron specific sodium channel isoform NaV1.8 on motor axons. We reported that in P0+/−, a model of CMT......1B, the membrane dysfunction could be acutely improved by a novel oral NaV1.8 blocker referred to as Compound 31 (C31, Bioorg. Med. Chem. Lett. 2010, 20, 6812; AbbVie Inc.). The aim of this study was to investigate the extent to which C31 treatment could also improve the motor axon function in P0......-of-concept that treatment with oral subtype-selective NaV1.8 blockers could be used to improve the motor function in severe forms of demyelinating CMT....

  18. Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction

    Directory of Open Access Journals (Sweden)

    Antonio eZorzano

    2015-06-01

    Full Text Available Mitochondrial dynamics is a term that encompasses the movement of mitochondria along the cytoskeleton, regulation of their architecture, and connectivity mediated by tethering and fusion/fission. The importance of these events in cell physiology and pathology has been partially unraveled with the identification of the genes responsible for the catalysis of mitochondrial fusion and fission. Mutations in two mitochondrial fusion genes (MFN2 and OPA1 cause neurodegenerative diseases, namely Charcot-Marie Tooth type 2A and autosomal dominant optic atrophy. Alterations in mitochondrial dynamics may be involved in the pathophysiology of prevalent neurodegenerative conditions. Moreover, impairment of the activity of mitochondrial fusion proteins dysregulates the function of hypothalamic neurons, leading to alterations in food intake and in energy homeostasis. Here we review selected findings in the field of mitochondrial dynamics and their relevance for neurodegeneration and hypothalamic dysfunction.

  19. Current Approaches to Diagnosis and Classification Features of Neuroosteoarthropathy Charcot (literature review

    Directory of Open Access Journals (Sweden)

    Balatiuk Irina

    2016-12-01

    Full Text Available The article provides the analysis of the publications of domestic and foreign authors on such complication of diabetes as diabetic Charcot osteoarthropathy. It formulates modern domestic classification of diabetic foot syndrome. It has been stated that diabetic foot syndrome is a serious medical and social problem, due to the high level of disability of patients, it causes significant social and economic losses to society. Pathogenetic basis for the development of diabetic osteoarthropathy is a combination of uncontrolled bone resorption and the lack of sensitivity of the defense, which leads to the destruction of joints. The gold standard for diagnosis of Charcot osteoarthropathy is X-ray densitometry that allows you to objectively assess the state of bone mineral density.

  20. Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

    Science.gov (United States)

    Vrabec, Katarina; Boštjančič, Emanuela; Koritnik, Blaž; Leonardis, Lea; Dolenc Grošelj, Leja; Zidar, Janez; Rogelj, Boris; Glavač, Damjan; Ravnik-Glavač, Metka

    2018-01-01

    Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS. We observed significant aberrant dysregulation across our patient cohort for miR-124a, miR-206, miR-9, let-7b, and miR-638. Since we did not use neurological controls we cannot rule out that the revealed differences in expression of investigated miRNAs are specific for ALS. Nevertheless, the group of these five miRNAs is worth of additional research in leukocytes of larger cohorts from different populations in order to verify their potential association to ALS disease. We also detected a significant up-regulation of the AAKT gene and down-regulation of the DNM2 gene, and thus, for the first time, we connected these with sporadic ALS cases. These findings open up new research toward miRNAs as diagnostic biomarkers and epigenetic processes involved in ALS. The detected significant deregulation of AAKT and DNM2 in sporadic ALS also represents an interesting finding. The DNM2 gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM). In addition, as recent studies connected AATK and frontotemporal dementia (FTD) and DNM2 and hereditary spastic paraplegia (HSP), these two genes together with our results genetically connect, at least in part, five diseases, including FTD, HSP, Charcot-Marie-Tooth (type CMT2M), CNM, and ALS

  1. Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

    NARCIS (Netherlands)

    Hoogendijk, J. E.; Janssen, E. A.; Gabreëls-Festen, A. A.; Hensels, G. W.; Joosten, E. M.; Gabreëls, F. J.; Zorn, I.; Valentijn, L. J.; Baas, F.; Ongerboer de Visser, B. W.

    1993-01-01

    The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this

  2. Marie Curie: Physicist and Woman

    Science.gov (United States)

    Howes, Ruth

    Marie Sklodowska was born in Warsaw on November 7, 1867. Girls were not allowed to attend college in Poland, so Marie found a well-paying post as a governess in rural village which she held for three years while helping her older sister complete medical school in Paris. Then Marie moved to Paris and graduated first in her class at the Sorbonne with a master's degree in physics in 1893. In 1895, she married the talented young physicist, Pierre Curie. Marie decided to investigate the radioactive components of the mineral pitchblende for her dissertation. The work involved chemical analysis of a ton of material in an unheated shed. Pierre joined her and at the end of 1898, the Curies announced the discovery of radium and polonium. Through 1899, Marie labored to measure the atomic weight of radium. In 1903, Marie earned her doctorate, the first for a woman in France, and the Curies split the Nobel Prize in Physics with Henri Becquerel. They became widely known, besieged by the press and frequently invited to make presentations and be awarded honors. They hated fame and both suffered bad health. In April, 1906, Pierre Curie was struck by a wagon and killed instantly. Marie was left as a single mother with two young daughters. Fortunately, the Sorbonne hired her to fill Pierre's position. In 1911, she was rejected for membership in the French Academy of Science because she was a woman. Also in 1911, she was accused of having an affair with a married French physicist Paul Langevin. The resulting scandal hit the press and brought angry mobs to her home. In the middle of this hullaballoo, she was informed that she had won a second Nobel Prize, this time in Chemistry. When World War I broke out, Marie mounted x-ray units on cars and became a heroine. She visited the United States in 1921 where President Harding presented her with a gram of radium. She continued her scientific studies in spite of declining health until her death in 1934. Professor Emerita.

  3. Mary and femininity: A psychological critique.

    Science.gov (United States)

    Harrington, P A

    1984-09-01

    This essay uses Freud to interpret the symbolism and theology of Mary in modern Catholicism. In her role as the mother of believers, Mary functions to place the Christian in the position of a child who receives illusory gratification from the mother. In her role as model for Christians to emulate, Mary functions to place the Christian in the position of receptivity and dependence which Freud associated with femininity. Reinterpreting Freud from a feminist perspective, I suggest that the kind of femininity Mary represents serves to perpetuate patriachal social structures and to inhibit full psychological maturity.

  4. Syringomyelia with Chiari I Malformation Presenting as Hip Charcot Arthropathy: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Roya Memarpour

    2015-01-01

    Full Text Available Neuroarthropathy (neuropathic osteoarthropathy, also known as Charcot joint, is a condition characterized by a progressive articular surface destruction in the setting of impaired nociceptive and proprioceptive innervation of the involved joint. It is seen most commonly in the foot and ankle secondary to peripheral neuropathy associated with diabetes mellitus. Cases of hip (Charcot neuroarthropathy are rare and almost exclusively reported in patients with neurosyphilis (tabes dorsalis. We report a case of a 36-year-old man who presented to the emergency department complaining of right hip pain. On physical examination, pain and thermal sensory deficits were noted in the upper torso with a cape-like distribution, as well as signs of an upper motor neuron lesion in the left upper and lower extremities. A magnetic resonance imaging study (MRI of the right hip showed evidence of early articular surface destruction and periarticular edema consistent with hip Charcot arthropathy. An MRI of the spine revealed an Arnold-Chiari type I malformation with extensive syringohydromyelia of the cervical and thoracic spine.

  5. Marie Curie: scientific entrepreneur

    International Nuclear Information System (INIS)

    Boudia, S.

    1998-01-01

    Marie Curie is best known for her discovery of radium one hundred years ago this month, but she also worked closely with industry in developing methods to make and monitor radioactive material, as Soraya Boudia explains. One hundred years ago this month, on 28 December 1898, Pierre Curie, Marie Sklodowska-Curie and Gustave Bemont published a paper in Comptes-rendus - the journal of the French Academy of Sciences. In the paper they announced that they had discovered a new element with astonishing properties: radium. But for one of the authors, Marie Curie, the paper was more than just the result of outstanding work: it showed that a woman could succeed in what was then very much a male-dominated scientific world. Having arrived in Paris from Poland in 1891, Marie Curie became the first woman in France to obtain a PhD in physics, the first woman to win a Nobel prize and the first woman to teach at the Sorbonne. She also helped to found a new scientific discipline: the study of radioactivity. She became an icon and a role-model for other women to follow, someone who succeeded - despite many difficulties - in imposing herself on the world of science. Although Curie's life story is a familiar and well documented one, there is one side to her that is less well known: her interaction with industry. As well as training many nuclear physicists and radiochemists in her laboratory, she also became a scientific pioneer in industrial collaboration. In this article the author describes this side of Marie Curie. (UK)

  6. Jean-Marie Dufour 1937-2007

    CERN Multimedia

    2007-01-01

    Jean-Marie Dufour, who was head of the CERN Legal Service from 1974 until his retirement in 2001, passed away on 8 July. Following his arrival at CERN in 1966 during the crucial phase of expansion of the Laboratory’s site, Jean-Marie Dufour ensured that CERN’s rules were applied while taking part in essential stages of the Organization’s development. With his fine mind and erudition, Jean-Marie Dufour, a staunch European devoted to the CERN cause, has left his mark on the Legal Service. The Service will publish a tribute to him in a forthcoming issue of the Bulletin.

  7. Pierre Janet, Sigmund Freud and Charcot's psychological and psychiatric legacy.

    Science.gov (United States)

    Pérez-Rincón, Héctor

    2011-01-01

    A key moment in the history of psychiatry occurred during Charcot's time at La Salpêtriere. Though his studies on hysteria and hypnotism, the founder of neurology inspired the work of two of his alumni: a Viennese Nervenartz and a French philosopher interested in the dissociation of personality. Even though neither of them was originally an alienist, their respective work allowed the field of neurosis--then belonging to internal medicine--to pass to psychiatry. The parallel lives of these frères enemis, both of whom were treated differently by fame, developed inside a very complex cultural and scientific milieu. Therefore, it is necessary to consider them together with other physicians, some of whom are much less well-known nowadays, who one way or another carried Charcot's influence into psychiatry, psychology and psychotherapy. The fates of the Dioscuri have been reversed--the fame and success of Freudian psychoanalysis ran parallel to Janet's oblivion and his long 'purgatory', but now the 'renaissance' of his work coincides with the decline of psychoanalysis as a theoretical explanation for mental pathology. Copyright © 2011 S. Karger AG, Basel.

  8. Marguerite Bottard (1822-1906), nurse under Jean-Martin Charcot, portrayed by G. Gilles de la Tourette.

    Science.gov (United States)

    Walusinski, Olivier

    2011-01-01

    Hospitals in Paris underwent considerable change at the end of the 19th century. As they moved from providing accommodation to care, their mission shifted from helping to healing. The glorification of scientific progress, as opposed to religious obscurantism, affected all of French 'Republican' society, in particular a significant part of the medical profession, led by figures such as D.M. Bourneville, former interne (house officer) under J.M. Charcot and also his publisher. Bourneville helped bring about the creation of nursing schools and the gradual replacement of religious orders by educated secular nurses. Marguerite Bottard, Charcot's chief nurse made famous by A. Brouillet's painting 'Une leçon clinique à La Salpêtrière', would be glorified and decorated as a model for this movement. A letter by G. Gilles de la Tourette to Charcot's successor F. Raymond, never before published, illustrates this progressive current of thought and revisits the struggle to secularise hospitals under the Third Republic in France. At the same time, it renews interest in the exemplary career of a nurse whose name was recently given to a building at La Salpêtrière Hospital. Copyright © 2011 S. Karger AG, Basel.

  9. [Charcot, working and 'Male Hysteria': A new approach to the Leçons du mardi (Tuesday Lessons) from the standpoint of psychodynamics of work].

    Science.gov (United States)

    Molinier, Pascale

    2015-01-01

    This paper examines the role of work in Charcot's clinical teaching focusing on cases of male hysteria in The Tuesday's Lessons from 1887 to 1889. Today, we read the work of Charcot in a retrospective way as having ended in a failure: He would have missed the discovery of the sexual unconscious. From the perspective of psychodynamics of work, it appears an alternative way which was present in Charcot, though unfinished, opening on a possible development of a relationship between psychic and body. The role of work in traumatic hysteria has been forgotten by Freud's posterity and this obliteration continues today.

  10. Robotic Software Integration Using MARIE

    Directory of Open Access Journals (Sweden)

    Carle Côté

    2006-03-01

    Full Text Available This paper presents MARIE, a middleware framework oriented towards developing and integrating new and existing software for robotic systems. By using a generic communication framework, MARIE aims to create a flexible distributed component system that allows robotics developers to share software programs and algorithms, and design prototypes rapidly based on their own integration needs. The use of MARIE is illustrated with the design of a socially interactive autonomous mobile robot platform capable of map building, localization, navigation, tasks scheduling, sound source localization, tracking and separation, speech recognition and generation, visual tracking, message reading and graphical interaction using a touch screen interface.

  11. Sarcopenia and body composition in diabetic Charcot osteoarthropathy

    DEFF Research Database (Denmark)

    Jansen, Rasmus Bo; Christensen, Tomas Møller; Bülow, Jens

    2015-01-01

    : Cross-sectional case-control study of people with diabetes with acute or chronic Charcot osteoarthropathy, matched with otherwise healthy people with diabetes. A total of 49 subjects (distribution ~1:1) had a total body DXA-scanning, measuring appendicular lean mass, android/gynoid and truncal...... (24.5-31.9%), whereas there were no significant differences found between the groups (P=0.065). Neither truncal/total fat percent nor android/gynoid fat percent ratios showed differences between the groups. CONCLUSION: To our knowledge, this is the first published dataset investigating body...

  12. Intensive strength and balance training with the Kinect console (Xbox 360) in a patient with CMT1A.

    Science.gov (United States)

    Pagliano, Emanuela; Foscan, Maria; Marchi, Alessia; Corlatti, Alice; Aprile, Giorgia; Riva, Daria

    2017-08-01

    Effective drugs for type 1A Charcot-Marie-Tooth (CMT1A) disease are not available. Various forms of moderate exercise are beneficial, but few data are available on the effectiveness of exercise in CMT1A children. To investigate the feasibility and effectiveness of exercises to improve ankle strength and limb function in a child with CMT1A. Outpatient clinic. Nine-year-old boy with CMT1A. The rehabilitation program consisted of ankle exercises and Kinect videogame-directed physical activities (using an Xbox 360 console/movement sensor) that aimed to improve balance and limb strength. The program was given 3 times a week for 5 weeks. The child was assessed at baseline, after 5 weeks, and 3 and 6 months after. By the end of follow-up, child balance and endurance had improved, but ankle strength did not. The encouraging results for balance and endurance justify further studies on videogame-directed activities in CMT1A children/adolescents.

  13. Demyelinating polyneuropathy with focally folded myelin sheaths in a family of Miniature Schnauzer dogs.

    Science.gov (United States)

    Vanhaesebrouck, An E; Couturier, Jérôme; Cauzinille, Laurent; Mizisin, Andrew P; Shelton, G Diane; Granger, Nicolas

    2008-12-15

    A spontaneous demyelinating polyneuropathy in two young Miniature Schnauzer dogs was characterized clinically, electrophysiologically and histopathologically. Both dogs were related and a third dog, belonging to the same family, had similar clinical signs. On presentation, clinical signs were restricted to respiratory dysfunction. Electrophysiological tests showed a dramatic decrease in both motor and sensory nerve conduction velocities. Microscopic examination of peripheral nerve biopsies (light and electron microscopy, teased nerve fibers), showed that this neuropathy was characterized by segmental demyelination and focally folded myelin sheaths. Various clinical syndromes associated with tomacula or focal thickening of the myelin sheath of the peripheral nerves have been described in humans and shown to be caused by gene mutations affecting the myelin proteins, such as the hereditary neuropathy with liability to pressure palsies or the demyelinating forms of Charcot-Marie-Tooth disease. In animals, a tomaculous neuropathy has been reported in cattle and chickens but not in carnivores. Here we report a demyelinating peripheral neuropathy with tomacula in two Miniature Schnauzer dogs.

  14. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.

    Science.gov (United States)

    Ouvrier, Robert; Geevasingha, Nimeshan; Ryan, Monique M

    2007-08-01

    The hereditary motor and sensory neuropathies (HMSNs, Charcot-Marie-Tooth neuropathies) are the most common degenerative disorders of the peripheral nervous system. In recent years a dramatic expansion has occurred in our understanding of the molecular basis and cell biology of the recessively inherited demyelinating and axonal neuropathies, with delineation of a number of new neuropathies. Mutations in some genes cause a wide variety of clinical, neurophysiologic, and pathologic phenotypes, rendering diagnosis difficult. The X-linked forms of HMSN represent at least 10%-15% of all HMSNs and have an expanded disease spectrum including demyelinating, intermediate, and axonal neuropathies, transient central nervous system (CNS) dysfunction, mental retardation, and hearing loss. This review presents an overview of the recessive and X-linked forms of HMSN observed in childhood, with particular reference to disease phenotype and neurophysiologic and pathologic abnormalities suggestive of specific diagnoses. These findings can be used by the clinician to formulate a differential diagnosis and guide targeted genetic testing.

  15. Hereditary neuropathy with liability to pressure palsy: a brief review with a case report.

    Science.gov (United States)

    Rana, Abdul Qayyum; Masroor, Mohamed Sufian

    2012-03-01

    Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is an autosomal dominant disorder and is usually characterized by episodes of recurrent and painless focal motor and sensory peripheral mononeuropathy. This condition is usually localized around areas of entrapment (predominantly the wrists, knees, elbows, and shoulders). The genetic locus of the disease is chromosome 17p12. A deletion of the PMP22 gene results in the lack of peripheral myelin protein, a key component to the myelin sheet of peripheral nerves. However, this disease may be completely asymptomatic until an event, such as a minor trauma, triggers these episodes, as seen in our presented case report. The diagnosis of HNPP can be somewhat challenging, as other diseases, such as Charcot-Marie-Tooth disease type 1A (CMT) and Hereditary Neuralgic Amyotrophy (HNA) must be included in the differential diagnosis due to their overlapping clinical features. There are currently no treatments to cure the disease, but therapies seek to alleviate the symptoms and recurring episodes.

  16. Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.

    Science.gov (United States)

    Dodge, James C

    2017-01-01

    Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders such as Parkinson disease (PD). Lipid deposition within the EALS may also participate in the pathogenesis of some additional neurodegenerative diseases of the motor system. Here, I will highlight the lipid abnormalities and clinical manifestations that are common to LSDs and several diseases of the motor system, including amyotrophic lateral sclerosis (ALS), atypical forms of spinal muscular atrophy, Charcot-Marie-Tooth disease (CMT), hereditary spastic paraplegia (HSP), multiple system atrophy (MSA), PD and spinocerebellar ataxia (SCA). Elucidating the underlying basis of intracellular lipid mislocalization as well as its consequences in each of these disorders will likely provide innovative targets for therapeutic research.

  17. In vivo intracellular recordings from spinal lumbar motoneurones in P0-deficient mice indicate an activity-dependent axonal conduction failure in otherwise functional motoneurones

    DEFF Research Database (Denmark)

    Lehnhoff, Janna; Moldovan, Mihai; Hedegaard, Anne

    2014-01-01

    Mice deficient for the peripheral myelin binding protein zero (P0-/-) show a progressive dysmyelinating neuropathy phenotypically resembling severe forms of Charcot-Marie-Tooth (CMT) disease. Traditionally, the progression of the disease was attributed to axonal loss, but the effect of chronic...... dysmyelination remains poorly understood. In this study, in vivo electrophysiological recordings were used to assess the function of both central and axonal components of spinal lumbar motoneurones in adult P0-/- mice.Three month old P0-/- mice (n=7) and wild type (WT) littermate controls (n=5) were...... anaesthetized with Hypnorm (0.315 mg/mL fentanyl-citrate + 10 mg/mL fluanisone), Midazolam (5 mg/mL), and sterile water, mixed in the ratio 1:1:2 (induction: 0.15mL/25g, maintenance: 0.05 mL/20 minutes, S.C.). Anaesthesia during surgery was assessed by the lack of reflexes to a short noxious pinch on the hind...

  18. Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

    Science.gov (United States)

    Frasquet, Marina; Lupo, Vincenzo; Chumillas, María José; Vázquez-Costa, Juan Francisco; Espinós, Carmen; Sevilla, Teresa

    2018-04-15

    PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. We herein describe the complete clinical picture of these two patients, and focus particularly on neuropathy characteristics. This study supports the fact that although PHARC is rare, its phenotype is very characteristic and we should include its study in patients affected with demyelinating polyneuropathy, hearing loss and retinopathy. Copyright © 2018 Elsevier B.V. All rights reserved.

  19. Peptide mimetic of the S100A4 protein modulates peripheral nerve regeneration and attenuates the progression of neuropathy in myelin protein P0 null mice

    DEFF Research Database (Denmark)

    Moldovan, Mihai; Pinchenko, Volodymyr; Dmytriyeva, Oksana

    2013-01-01

    and mimicked the S100A4-induced neuroprotection in brain trauma. Here, we investigated a possible function of S100A4 and its mimetics in the pathologies of the peripheral nervous system (PNS). We found that S100A4 was expressed in the injured PNS and that its peptide mimetic (H3) affected the regeneration......, these effects were attributed to the modulatory effect of H3 on initial axonal sprouting. In contrast to the modest effect of H3 on the time course of regeneration, H3 had a long-term neuroprotective effect in the myelin protein P0 null mice, a model of dysmyelinating neuropathy (Charcot-Marie-Tooth type 1...... disease), where the peptide attenuated the deterioration of nerve conduction, demyelination and axonal loss. From these results, S100A4 mimetics emerge as a possible means to enhance axonal sprouting and survival, especially in the context of demyelinating neuropathies with secondary axonal loss...

  20. The cytoskeleton as a novel therapeutic target for old neurodegenerative disorders.

    Science.gov (United States)

    Eira, Jessica; Silva, Catarina Santos; Sousa, Mónica Mendes; Liz, Márcia Almeida

    2016-06-01

    Cytoskeleton defects, including alterations in microtubule stability, in axonal transport as well as in actin dynamics, have been characterized in several unrelated neurodegenerative conditions. These observations suggest that defects of cytoskeleton organization may be a common feature contributing to neurodegeneration. In line with this hypothesis, drugs targeting the cytoskeleton are currently being tested in animal models and in human clinical trials, showing promising effects. Drugs that modulate microtubule stability, inhibitors of posttranslational modifications of cytoskeletal components, specifically compounds affecting the levels of tubulin acetylation, and compounds targeting signaling molecules which regulate cytoskeleton dynamics, constitute the mostly addressed therapeutic interventions aiming at preventing cytoskeleton damage in neurodegenerative disorders. In this review, we will discuss in a critical perspective the current knowledge on cytoskeleton damage pathways as well as therapeutic strategies designed to revert cytoskeleton-related defects mainly focusing on the following neurodegenerative disorders: Alzheimer's Disease, Parkinson's Disease, Huntington's Disease, Amyotrophic Lateral Sclerosis and Charcot-Marie-Tooth Disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

  1. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR

    Energy Technology Data Exchange (ETDEWEB)

    Inoue, K.; Sugiyama, N.; Kawanishi, C. [Yokohama City Univ., Yokohama (Japan)] [and others

    1996-07-01

    Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused by abnormalities in the proteolipid protein (PLP) gene, which is essential for oligodendrocyte differentiation and CNS myelin formation. Although linkage analysis has shown the homogeneity at the PLP locus in patients with PMD, exonic mutations in the PLP gene have been identified in only 10% - 25% of all cases, which suggests the presence of other genetic aberrations, including gene duplication. In this study, we examined five families with PMD not carrying exonic mutations in PLP gene, using comparative multiplex PCR (CM-PCR) as a semiquantitative assay of gene dosage. PLP gene duplications were identified in four families by CM-PCR and confirmed in three families by densitometric RFLP analysis. Because a homologous myelin protein gene, PMP22, is duplicated in the majority of patients with Charcot-Marie-Tooth 1A, PLP gene overdosage may be an important genetic abnormality in PMD and affect myelin formation. 38 ref., 5 figs., 2 tabs.

  2. Peripheral myelin protein 22 alters membrane architecture

    Science.gov (United States)

    Mittendorf, Kathleen F.; Marinko, Justin T.; Hampton, Cheri M.; Ke, Zunlong; Hadziselimovic, Arina; Schlebach, Jonathan P.; Law, Cheryl L.; Li, Jun; Wright, Elizabeth R.; Sanders, Charles R.; Ohi, Melanie D.

    2017-01-01

    Peripheral myelin protein 22 (PMP22) is highly expressed in myelinating Schwann cells of the peripheral nervous system. PMP22 genetic alterations cause the most common forms of Charcot-Marie-Tooth disease (CMTD), which is characterized by severe dysmyelination in the peripheral nerves. However, the functions of PMP22 in Schwann cell membranes remain unclear. We demonstrate that reconstitution of purified PMP22 into lipid vesicles results in the formation of compressed and cylindrically wrapped protein-lipid vesicles that share common organizational traits with compact myelin of peripheral nerves in vivo. The formation of these myelin-like assemblies depends on the lipid-to-PMP22 ratio, as well as on the PMP22 extracellular loops. Formation of the myelin-like assemblies is disrupted by a CMTD-causing mutation. This study provides both a biochemical assay for PMP22 function and evidence that PMP22 directly contributes to membrane organization in compact myelin. PMID:28695207

  3. Mary Shelley: Teaching and Learning through "Frankenstein"

    Science.gov (United States)

    Girard, Theresa M.

    2009-01-01

    In the writing of "Frankenstein", Mary Shelley was able to change the course of women's learning, forever. Her life started from an elite standpoint as the child of Mary Wollstonecraft and William Godwin. As such, she was destined to grow to be a major influence in the world. Mary Shelley's formative years were spent with her father and his many…

  4. "Mary Hartman, Mary Hartman": An Analysis of Satire as a Violation of Soap Opera Stereotypes.

    Science.gov (United States)

    Gaulard, Joan M.

    The soap opera "Mary Hartman, Mary Hartman" presents an interesting new genre in television, as it defies the conventional standards and stereotypes associated with daytime drama. The central character is not a dependent victim but a survivor who indicates to her viewers the concept which advertisers and media management have of them. A…

  5. "Mary Hartman, Mary Hartman"; A New Genre of Prosocial Programming, or Just Another Soap Opera?

    Science.gov (United States)

    Surlin, Stuart H.; Maloof, Mary C.

    This paper discusses the wide appeal, and the effect on the viewing audience, of traditional television soap operas. It reports on a comparison of role interactions, topics discussed by the characters, and types of topics and problems presented on the television program "Mary Hartman, Mary Hartman" with those presented on two traditional…

  6. Marie and Pierre Curie. Life in extremes; Marie and Pierre Curie. Leben in Extremen

    Energy Technology Data Exchange (ETDEWEB)

    Roethlein, Brigitte

    2008-07-01

    In Paris in 1894, two young physicists fall in love: Marie Sklodowska and Pierre Curie. They get married and make great contributions to science, research radioactivity and discover new chemical elements. The marriage of Marie and Pierre Curie is quite modern: They work together as equals, share their thoughts and pursue their plans together as partners. They share an absolute interest in science, a love of nature, and a sceptic attitude towards the sophisticated society of the Belle Epoque. They are together 24 hours a day with hardly ever any disagreement. Whenever one of them is ill - which is quite often because of the high level of radioactivity in their laboratory -, the other will nurse him or her. After only twelve years of mutual love, Pierre Curie dies. Marie raises their two daughters on her own and continues her research. In 1911, she will be the first scientist that ever gets a second Nobel Prize. (orig.) [German] Im Paris des Jahres 1894 verlieben sich zwei junge Physiker: Marie Sklodowska und Pierre Curie. Sie heiraten und leisten gemeinsam Grosses fuer die Wissenschaft, erforschen die Radioaktivitaet und entdecken neue chemische Elemente. Zusammen erhalten sie den Nobelpreis. Marie und Pierre Curie fuehren eine Ehe, die ihrer Zeit weit voraus ist: Sie arbeiten gleichberechtigt miteinander, teilen ihre Gedanken und verfolgen ihre Plaene gemeinsam. Beiden eigen ist die absolute wissenschaftliche Neugier, die Liebe zur Natur und die Skepsis gegenueber der mondaenen Gesellschaft der Belle Epoque. Fast jeden Tag sind sie rund um die Uhr zusammen, dabei gibt es selten Spannungen. Wenn einer von beiden gesundheitliche Probleme hat - und das haben sie wegen der radioaktiven Belastung im Labor oft - ist der andere fuer ihn da und pflegt ihn. Nach nur zwoelf gemeinsamen Jahren der Liebe und Arbeit stirbt Pierre Curie. Marie zieht ihre beiden Toechter alleine gross und fuehrt die Forschungen weiter. 1911 erhaelt sie als erster Mensch zum zweiten Mal den

  7.  Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2012-03-01

    Full Text Available  The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensorimotor polyneuropathy, tremor, ataxia, sensorineural hearing-loss, and hypothyroidism in the 27 years-old index case, as mild facial dysmorphism, muscle cramps, tinnitus, intention tremor, bradydiadochokinesia, and sensorimotor polyneuropathy in the 31 year-old half-brother of the index-patient, and as sensorimotor polyneuropathy and foot deformityin the father of the two. The half-brother additionally presented with hypertelorism, not previously reported in PMP22tandem-duplication carriers. The presented cases show that the tandem-duplication 17p11.2 may present with marked intra-familialphenotype variability and that mild facial dysmorphism with stuck-out ears and hypertelorism may be a rare phenotypic feature of this mutation. The causal relation between facial dysmorphism and the PMP22 tandem-duplication, however, remains speculative.

  8. Marie Curie; Marie Curie

    Energy Technology Data Exchange (ETDEWEB)

    Trotereau, J.

    2011-07-01

    The legend has only retained from Marie Curie (1867-1934) the image of a hard and brilliant worker, pioneer in the radioactivity domain, and who awarded twice the Nobel Price. Behind the scientist, there is a women, Marya Salomea Sklodowska, the 'Polish', who was considered during some time as an 'alien', an 'atheistic intellectual', an 'emancipated women'. When she died alone in July 1934, after an exhausting life of labour, her funeral led to no official ceremony or speech. This small book summarizes the biography of the most famous female scientist in the world

  9. Marie Underile pühendatakse konverents

    Index Scriptorium Estoniae

    2008-01-01

    Tartus Eesti Kirjandusmuuseumis toimuvast Marie Underi 125. sünniaastapäevale pühendatud konverentsist ja näitusest "Kunsti Marie Underi kodust". Vt. ka Keel ja Kirjandus, nr. 4, 2008, lk. 317; Looming, nr. 4, 2008, lk. 635; Keel ja Kirjandus, nr. 7, lk. 570-572

  10. Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution

    Directory of Open Access Journals (Sweden)

    Alejandro Leal

    2004-09-01

    Full Text Available Hereditary motor and sensory neuropathy (HMSN or Charcot-Marie-Tooth disease (CMT is the most common hereditary illness of the peripheral nervous system. The genetics and the physiopathological aspects of the disease clarified until know, are here summarized. More than twenty genes and ten additional loci have been related with HMSN. These findings contribute to understand the metabolism of peripheral nerves and give the basis for molecular diagnostics and future therapy. Several Costa Rican families with CMT have been identified, specially with axonal forms. Two families present mutations in the myelin protein zero gene (MPZ. In addition, linkage have been found between the disease and locus 19q13.3 in an extended family, and a mutation segregating with the disease is present in a candidate gene of the critical interval. Costa Rica has several advantages for genetical studies, that can contribute importantly in the generation of knowledge in the neurogenetical field. Rev. Biol. Trop. 52(3: 475-483. Epub 2004 Dic 15.El grupo de neuropatías motoras y sensoriales hereditarias (HMSN o enfermedad de Charcot-Marie-Tooth (CMT es el padecimiento hereditario más común del sistema nervioso periférico. El propósito de este trabajo es resumir los aspectos genéticos y fisiopatológicos más actuales de esta enfermedad. Más de veinte genes y diez loci adicionales han sido relacionados con HMSN. Estos hallazgos han contribuido con la comprensión del metabolismo de los nervios periféricos y sirven de base para el diagnóstico molecular y el diseño de terapias. Diversas familias costarricenses con CMT han sido identificadas: dos de ellas presentan mutaciones en el gen que codifica por la mielina proteína cero (MPZ. Además, un análisis de ligamiento localizó el gen que causa una forma axonal de la enfermedad en el cromosoma 19q13.3 en una extensa familia; también se detectó en esa región una mutación que co-segrega con la enfermedad y que

  11. Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients

    Directory of Open Access Journals (Sweden)

    Katarina Vrabec

    2018-04-01

    Full Text Available Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9, AATK (miR-338, and DNM2 (miR-638, in leukocyte samples of 84 patients with sporadic ALS. We observed significant aberrant dysregulation across our patient cohort for miR-124a, miR-206, miR-9, let-7b, and miR-638. Since we did not use neurological controls we cannot rule out that the revealed differences in expression of investigated miRNAs are specific for ALS. Nevertheless, the group of these five miRNAs is worth of additional research in leukocytes of larger cohorts from different populations in order to verify their potential association to ALS disease. We also detected a significant up-regulation of the AAKT gene and down-regulation of the DNM2 gene, and thus, for the first time, we connected these with sporadic ALS cases. These findings open up new research toward miRNAs as diagnostic biomarkers and epigenetic processes involved in ALS. The detected significant deregulation of AAKT and DNM2 in sporadic ALS also represents an interesting finding. The DNM2 gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM. In addition, as recent studies connected AATK and frontotemporal dementia (FTD and DNM2 and hereditary spastic paraplegia (HSP, these two genes together with our results genetically connect, at least in part, five diseases, including FTD, HSP, Charcot-Marie-Tooth (type CMT2M, CNM

  12. Mary Shelley as editor of Percy Shelley

    OpenAIRE

    Allen, Richard

    2001-01-01

    This chapter explores Mary Shelley's work as the founding editor of Percy Shelley's poetry. It sets out the circumstances of Mary Shelley's life after the death of Percy Shelley, her financial dependence on Percy Shelley's father, and the restrictions placed on publication by Shelley's father. It then sets out the strategies Mary Shelley used to construct a biography of Percy Shelley from the poem, thus establishing a Romantic biography of Percy Shelley which has endured into the 20th century,

  13. Mari e-raamatukogu / Tatjana Verina ; vene keelest tõlkinud Ene Riet

    Index Scriptorium Estoniae

    Verina, Tatjana

    2011-01-01

    Mari e-raamatukogu loomise aluseks on Mari-Eli Vabariigi etnokultuuriliste ja rahvusvaheliste suhete arendamise projekt, hetkel on elektroonilises raamatukogus 52 täistekstilist teavikut Tšavaini nimelise Mari Rahvusraamatukogu haruldaste raamatute kogust

  14. Remembering Mary Tyler Moore | MedlinPlus Magazine

    Science.gov (United States)

    ... Remembering Mary Tyler Moore Follow us NIH MedlinePlus Magazine Remembers Mary Tyler Moore A little more than ... helped launch the first issue of NIH MedlinePlus magazine on Capitol Hill. The award-winning actress and ...

  15. Autogenous tooth transplantation for replacing a lost tooth: case reports

    Directory of Open Access Journals (Sweden)

    Ji-Youn Kang

    2013-02-01

    Full Text Available The autogenous tooth transplantation is an alternative treatment replacing a missing tooth when a suitable donor tooth is available. It is also a successful treatment option to save significant amount of time and cost comparing implants or conventional prosthetics. These cases, which required single tooth extraction due to deep caries and severe periodontal disease, could have good results by transplanting non-functional but sound donor tooth to the extraction site.

  16. Adaptation of Russian Christian Names into the Mari Language

    Directory of Open Access Journals (Sweden)

    Alexander L. Pustyakov

    2017-11-01

    Full Text Available This article analyses the phonetic and morphological adaptation of Christian personal names in the Mari language. The work examines personal names recorded in different regions among the Mari. The composition of the presented data is not exhaustive; it does, however, allow one to observe some general patterns of the adaptation process. The main part of the article is preceded by a brief overview of the Christianization of the Mari region and the contacts between the Mari and the Russian-speaking population; the features of the local dialects of the Russian language are briefly stated. The Mari language incorporated a significant number of Russian names. The source of loans included, besides the standard church name forms, also the numerous varieties found in the Russian dialects. As part of the study, phonetic, structural changes of Christian names in the Mari language are revealed and the reasons for the majority of these transformations are identified. The author also pays attention to the intermediary role of the neighbouring Turkic languages in the penetration of Russian names into the Mari language. Changes in borrowed names were induced by internal Mari linguistic rules, as well as dialectal features of the local Russian dialects. The identification of systematic phonetic and structural transformations helps to determine the origin of obscure anthroponyms.

  17. Lady Mary Sidney Herbert a Lady Mary Wroth: labutí píseň a imaginativní svět jako součást rodinného odkazu (Lady Mary Sidney Herbert and Lady Mary Wroth: a Swan song and Fictional World as a part of Sidneyan legacy

    Directory of Open Access Journals (Sweden)

    Martina Kastnerová

    2017-03-01

    Full Text Available The study intends to clarify the process of forming of Sidneyan literary cult as a part of (Sidneyʼs family legacy based on the the literary activities of Sidneyʼs sister Lady Mary Sidney Herbert, countess of Pembroke, and his niece Lady Mary Wroth, daughter of his younger brother Robert. Mary Sidney Herbert throughout her literary career sings a swan song of her brother, Mary Wroth creates an imaginative world of free love choice and happy endings and her literary career is based on the well-established cult of Sidneyʼs name.

  18. A Factor Increasing Venous Contamination on Bolus Chase Three-dimensional Magnetic Resonance Imaging: Charcot Neuroarthropathy.

    Science.gov (United States)

    Çildağ, Mehmet B; Ertuğrul, Mustafa B; Köseoğlu, Ömer Fk; Armstrong, David G

    2018-01-01

    The study aimed to evaluate the ratio of venous contamination in diabetic cases without foot lesion, with foot lesion and with Charcot neuroarthropathy (CN). Bolus-chase three-dimensional magnetic resonance (MR) of 396 extremities of patients with diabetes mellitus was analyzed, retrospectively. Extremities were divided into three groups as follows: diabetic patients without foot ulcer or Charcot arthropathy (Group A), patients with diabetic foot ulcers (Group B) and patients with CN accompanying diabetic foot ulcers (Group C). Furthermore, amount of venous contamination classified as no venous contamination, mild venous contamination, and severe venous contamination. The relationship between venous contamination and extremity groups was investigated. Severe venous contamination was seen in Group A, Group B, and Group C, 5.6%, 15.2%, and 34.1%, respectively. Statistically significant difference was seen between groups with regard to venous contamination. Venous contamination following bolus chase MR was higher in patients with CN.

  19. Moved by Mary: the power of pilgrimage in the modern world

    NARCIS (Netherlands)

    Hermkens, A.K.; Jansen, W.H.M.; Notermans, C.D.

    2009-01-01

    The Virgin Mary continues to attract devotees to her images and shrines. In Moved by Mary, anthropologists, geographers and historians explore how people and groups around the world identify and join with Mary in their struggle against social injustice, and how others mobilize Mary to impose ideas

  20. Autogenous tooth transplantation: an alternative to replace extracted tooth

    Directory of Open Access Journals (Sweden)

    David B. Kamadjaja

    2015-09-01

    Full Text Available Background: The gold standard treatment to replace missing tooth is dental implants, however, in certain cases, such as in young patients its placement is contraindicated. Autogenous tooth transplantation, which has been widely done in Scandinavian countries for many years, may become a good alternative to overcome this problem. Purpose: This article attempted to provide information about the indication, treatment planning, surgical technique and the successful result of autogenous tooth transplantation. Case: A fifteen year old male patient presented with large caries and periapical disease of his lower left first molar, which was partially erupted and the roots was not fully formed in radiograph. Case management: Autogenous tooth transplantation procedure was performed consisting of extraction of #36, odontectomy of #38 followed by its implantation to socket #36 and fixation of the transplanted tooth to the adjacent teeth. Post operative evaluation was done on regular basis within 18 months period. There was no complaint, the tooth was clinically stable and no evidence of periodontal problem. Serial radiographs showed healing of alveolar bone and periodontal tissue, and the complete root formation was evident by 18 months post operatively. Conclusion: Autogenous tooth transplantation is a potential alternative to replace extracted tooth. Provided that the case be properly planned and operation carefully performed, successful result of this treatment can be achieved.

  1. Jean-Marie Dufour 1937-2007

    CERN Multimedia

    2007-01-01

    Picture taken by Rudiger Voss in the Legal Service LibraryJean-Marie Dufour, CERN Legal Advisor from 1974 until his retirement in 2001, passed away on 8 July. For us, his colleagues in the Legal Service, Jean-Marie was a tutor and a reference, who passed on to us his passion for the practice of law in an intergovernmental organisation. As a boss, his abiding managerial quality was his unstinting loyalty to his collaborators. Jean-Marie joined CERN in 1966 and for the next 35 years was to be the guardian of the Laboratory’s rules. This was his view of the Organization: "...I have discovered [at CERN] a fascinating universe driven by two forces: science and Europe; a world of physicists and engineers who, encouraged by the States of Europe, run a remarkable Laboratory, where Europeans have achieved reconciliation and restored the grand tradition of European physics, attracting physicists from around the world; a Laboratory that transcends not only the fro...

  2. A neurological bias in the history of hysteria: from the womb to the nervous system and Charcot

    Directory of Open Access Journals (Sweden)

    Marleide da Mota Gomes

    2014-12-01

    Full Text Available Hysteria conceptions, from ancient Egypt until the 19th century Parisian hospital based studies, are presented from gynaecological and demonological theories to neurological ones. The hysteria protean behavioral disorders based on nervous origin was proposed at the beginning, mainly in Great Britain, by the “enlightenment nerve doctors”. The following personages are highlighted: Galen, William, Sydenham, Cullen, Briquet, and Charcot with his School. Charcot who had hysteria and hypnotism probably as his most important long term work, developed his conceptions, initially, based on the same methodology he applied to studies of other neurological disorder. Some of his associates followed him in his hysteria theories, mainly Paul Richer and Gilles de La Tourette who produced, with the master's support, expressive books on Salpêtrière School view on hysteria.

  3. A neurological bias in the history of hysteria: from the womb to the nervous system and Charcot.

    Science.gov (United States)

    Mota Gomes, Marleide da; Engelhardt, Eliasz

    2014-12-01

    Hysteria conceptions, from ancient Egypt until the 19th century Parisian hospital based studies, are presented from gynaecological and demonological theories to neurological ones. The hysteria protean behavioral disorders based on nervous origin was proposed at the beginning, mainly in Great Britain, by the "enlightenment nerve doctors". The following personages are highlighted: Galen, William, Sydenham, Cullen, Briquet, and Charcot with his School. Charcot who had hysteria and hypnotism probably as his most important long term work, developed his conceptions, initially, based on the same methodology he applied to studies of other neurological disorder. Some of his associates followed him in his hysteria theories, mainly Paul Richer and Gilles de La Tourette who produced, with the master's support, expressive books on Salpêtrière School view on hysteria.

  4. Medical Imaging in Differentiating the Diabetic Charcot Foot from Osteomyelitis.

    Science.gov (United States)

    Short, Daniel J; Zgonis, Thomas

    2017-01-01

    Diabetic Charcot neuroarthropathy (DCN) poses a great challenge to diagnose in the early stages and when plain radiographs do not depict any initial signs of osseous fragmentation or dislocation in a setting of a high clinical index of suspicion. Medical imaging, including magnetic resonance imaging, computed tomography, and advanced bone scintigraphy, has its own unique clinical indications when treating the DCN with or without concomitant osteomyelitis. This article reviews different clinical case scenarios for choosing the most accurate medical imaging in differentiating DCN from osteomyelitis. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. A factor increasing venous contamination on bolus chase three-dimensional magnetic resonance imaging: Charcot neuroarthropathy

    Directory of Open Access Journals (Sweden)

    Mehmet B Cildag

    2018-01-01

    Full Text Available Background: The study aimed to evaluate the ratio of venous contamination in diabetic cases without foot lesion, with foot lesion and with Charcot neuroarthropathy (CN. Materials and Methods: Bolus-chase three-dimensional magnetic resonance (MR of 396 extremities of patients with diabetes mellitus was analyzed, retrospectively. Extremities were divided into three groups as follows: diabetic patients without foot ulcer or Charcot arthropathy (Group A, patients with diabetic foot ulcers (Group B and patients with CN accompanying diabetic foot ulcers (Group C. Furthermore, amount of venous contamination classified as no venous contamination, mild venous contamination, and severe venous contamination. The relationship between venous contamination and extremity groups was investigated. Results: Severe venous contamination was seen in Group A, Group B, and Group C, 5.6%, 15.2%, and 34.1%, respectively. Statistically significant difference was seen between groups with regard to venous contamination. Conclusion: Venous contamination following bolus chase MR was higher in patients with CN.

  6. Mary Anne Chambers | IDRC - International Development Research ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    A former Member of Provincial Parliament, Mary Anne served as Minister of Training, Colleges and Universities, and Minister of Children and Youth Services in the Government of Ontario. She is also a former senior vice-president of Scotiabank. A graduate of the University of Toronto, Mary Anne has received honorary ...

  7. MaRIE Undulator & XFEL Systems

    Energy Technology Data Exchange (ETDEWEB)

    Nguyen, Dinh Cong [Los Alamos National Laboratory; Marksteiner, Quinn R. [Los Alamos National Laboratory; Anisimov, Petr Mikhaylovich [Los Alamos National Laboratory; Buechler, Cynthia Eileen [Los Alamos National Laboratory

    2015-03-23

    The 22 slides in this presentation treat the subject under the following headings: MaRIE XFEL Performance Parameters, Input Electron Beam Parameters, Undulator Design, Genesis Simulations, Risks, and Summary It is concluded that time-dependent Genesis simulations show the MaRIE XFEL can deliver the number of photons within the required bandwidth, provided a number of assumptions are met; the highest risks are associated with the electron beam driving the XFEL undulator; and risks associated with the undulator and/or distributed seeding technique may be evaluated or retired by performing early validation experiments.

  8. Viability of permanent PMMA spacer with combined free fasciocutaneous tissue transfer for failed charcot reconstruction: A 38 month prospective case report

    Directory of Open Access Journals (Sweden)

    Tammer Elmarsafi

    Full Text Available Introduction: Charcot Neuroarthropathy is a complex lower extremity pathology which predisposes the afflicted limb to ulcerations, osteomyelitis, and risk of major amputation. Charcot Neuroarthropathy often requires osseous reconstruction, which can be complicated with osteomyelitis and hardware infection. When soft tissue and osseous deficits must be concomitantly addressed, the use of PMMA spacers can be combined with free tissue transfers. Presentation of case: 71 year old Caucasian male with Diabetic Charcot Neuroarthopathy underwent osseous reconstruction with internal hardware. The surgical site was complicated by acute infection, osteomyelitis, exposed hardware requiring removal, and multiple surgical débridement. The degree of soft tissue and osseous deficit post-débridement required complex reconstruction. Discussion: The osseous deficit was addressed with the use of a permanent PMMA cement spacer. The soft tissue deficit was reconstructed with a free tissue transfer. This case report demonstrates the long term viability and utility of the use of permanent cement spacers when combined with free tissue transfer for closure of complex diabetic foot wounds. This case is an example of a multidisciplinary team approach to limb salvage with successful long term outcome; a plantigrade stable functional foot in an ambulatory highly active patient. Follow up time since initial intervention was 38 months. Conclusion: The use of a permanent PMMA cement spacer does not preclude free tissue transfer in complex host lower extremity reconstruction. A multidisciplinary team approach is a vital component to successful salvage outcomes. Keywords: Diabetes, Charcot neuroarthropathy, Ulcer, Cement spacer, Free tissue transfer, Osteomyelitis

  9. A jolly good call for Marie Curie Fellows

    CERN Multimedia

    2009-01-01

    A new funding opportunity to train young researchers has just been announced by the European Commission. One of the calls within FP7 Marie Curie Actions requests proposals for Initial Training Network (ITN) projects, with a deadline of 22 December 2009. Project proposals are strongly encouraged at CERN and authors can receive support and guidance from the Marie Curie Steering Group. Winnie Wong: "I wouldn’t have considered a PhD if I hadn’t been a Marie Curie fellow" Dan Savu: "It’s the best of both worlds: training plus working in an international organisation" ITN projects have one key aim: training. Academic and industrial partners work together to form a network to recruit and train Marie Curie Fellows. Fellows are young researchers (typically PhD-level) from any country who combine project-based research with tailor-made training programmes, ...

  10. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Science.gov (United States)

    Nicolas, Aude; Kenna, Kevin P; Renton, Alan E; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A; Kenna, Brendan J; Nalls, Mike A; Keagle, Pamela; Rivera, Alberto M; van Rheenen, Wouter; Murphy, Natalie A; van Vugt, Joke J F A; Geiger, Joshua T; Van der Spek, Rick A; Pliner, Hannah A; Shankaracharya; Smith, Bradley N; Marangi, Giuseppe; Topp, Simon D; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D; Kenna, Aoife; Mora, Gabriele; Calvo, Andrea; Mazzini, Letizia; Riva, Nilo; Mandrioli, Jessica; Caponnetto, Claudia; Battistini, Stefania; Volanti, Paolo; La Bella, Vincenzo; Conforti, Francesca L; Borghero, Giuseppe; Messina, Sonia; Simone, Isabella L; Trojsi, Francesca; Salvi, Fabrizio; Logullo, Francesco O; D'Alfonso, Sandra; Corrado, Lucia; Capasso, Margherita; Ferrucci, Luigi; Moreno, Cristiane de Araujo Martins; Kamalakaran, Sitharthan; Goldstein, David B; Gitler, Aaron D; Harris, Tim; Myers, Richard M; Phatnani, Hemali; Musunuri, Rajeeva Lochan; Evani, Uday Shankar; Abhyankar, Avinash; Zody, Michael C; Kaye, Julia; Finkbeiner, Steven; Wyman, Stacia K; LeNail, Alex; Lima, Leandro; Fraenkel, Ernest; Svendsen, Clive N; Thompson, Leslie M; Van Eyk, Jennifer E; Berry, James D; Miller, Timothy M; Kolb, Stephen J; Cudkowicz, Merit; Baxi, Emily; Benatar, Michael; Taylor, J Paul; Rampersaud, Evadnie; Wu, Gang; Wuu, Joanne; Lauria, Giuseppe; Verde, Federico; Fogh, Isabella; Tiloca, Cinzia; Comi, Giacomo P; Sorarù, Gianni; Cereda, Cristina; Corcia, Philippe; Laaksovirta, Hannu; Myllykangas, Liisa; Jansson, Lilja; Valori, Miko; Ealing, John; Hamdalla, Hisham; Rollinson, Sara; Pickering-Brown, Stuart; Orrell, Richard W; Sidle, Katie C; Malaspina, Andrea; Hardy, John; Singleton, Andrew B; Johnson, Janel O; Arepalli, Sampath; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Al-Sarraj, Safa; King, Andrew; Troakes, Claire; Vance, Caroline; de Belleroche, Jacqueline; Baas, Frank; Ten Asbroek, Anneloor L M A; Muñoz-Blanco, José Luis; Hernandez, Dena G; Ding, Jinhui; Gibbs, J Raphael; Scholz, Sonja W; Floeter, Mary Kay; Campbell, Roy H; Landi, Francesco; Bowser, Robert; Pulst, Stefan M; Ravits, John M; MacGowan, Daniel J L; Kirby, Janine; Pioro, Erik P; Pamphlett, Roger; Broach, James; Gerhard, Glenn; Dunckley, Travis L; Brady, Christopher B; Kowall, Neil W; Troncoso, Juan C; Le Ber, Isabelle; Mouzat, Kevin; Lumbroso, Serge; Heiman-Patterson, Terry D; Kamel, Freya; Van Den Bosch, Ludo; Baloh, Robert H; Strom, Tim M; Meitinger, Thomas; Shatunov, Aleksey; Van Eijk, Kristel R; de Carvalho, Mamede; Kooyman, Maarten; Middelkoop, Bas; Moisse, Matthieu; McLaughlin, Russell L; Van Es, Michael A; Weber, Markus; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Morrison, Karen E; Basak, A Nazli; Mora, Jesús S; Drory, Vivian E; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Hardiman, Orla; Williams, Kelly L; Fifita, Jennifer A; Nicholson, Garth A; Blair, Ian P; Rouleau, Guy A; Esteban-Pérez, Jesús; García-Redondo, Alberto; Al-Chalabi, Ammar; Rogaeva, Ekaterina; Zinman, Lorne; Ostrow, Lyle W; Maragakis, Nicholas J; Rothstein, Jeffrey D; Simmons, Zachary; Cooper-Knock, Johnathan; Brice, Alexis; Goutman, Stephen A; Feldman, Eva L; Gibson, Summer B; Taroni, Franco; Ratti, Antonia; Gellera, Cinzia; Van Damme, Philip; Robberecht, Wim; Fratta, Pietro; Sabatelli, Mario; Lunetta, Christian; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Camu, William; Trojanowski, John Q; Van Deerlin, Vivianna M; Brown, Robert H; van den Berg, Leonard H; Veldink, Jan H; Harms, Matthew B; Glass, Jonathan D; Stone, David J; Tienari, Pentti; Silani, Vincenzo; Chiò, Adriano; Shaw, Christopher E; Traynor, Bryan J; Landers, John E

    2018-03-21

    To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Copyright © 2018 Elsevier Inc. All rights reserved.

  11. Meet EPA Scientist Marie O'Shea, Ph.D.

    Science.gov (United States)

    EPA Scientist Dr. Marie O'Shea is Region 2's Liaison to the Agency's Office of Research and Development (ORD). Marie has a background in research on urban watershed management, focused on characterizing and controlling nutrients in stormwater runoff.

  12. Farewell Jean-Marie Good Luck Eva Welcome back Franz

    CERN Multimedia

    2001-01-01

    At the farewell reception offered by the Director-General, Professor Luciano Maiani, on the occasion of Jean-Marie Dufour's retirement from CERN, three generations of CERN Legal Counsel met. From right to left: Jean-Marie Dufour, who retires on 30 November 2001, after 35 years of service. Eva-Maria Gröniger-Voss, who takes over from Jean-Marie Dufour on 1st December 2001. Ambassador Franz Schmid, CERN Legal Counsel from 1971 to 1974.

  13. Diabetic charcot neuroarthropathy of the foot and ankle with osteomyelitis.

    Science.gov (United States)

    Ramanujam, Crystal L; Stapleton, John J; Zgonis, Thomas

    2014-10-01

    One of the most devastating foot and/or ankle complications in the diabetic population with peripheral neuropathy is the presence of Charcot neuroarthropathy (CN). In recent years, diabetic limb salvage has been attempted more frequently as opposed to major lower extremity amputation for CN of the foot and ankle with ulceration and/or deep infection. Treatment strategies for osteomyelitis in the diabetic population have evolved. This article reviews some of the most common surgical strategies recommended for the diabetic patient with CN of the foot and/or ankle and concomitant osteomyelitis. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Engineering international relations / Maris Riekstins ; interv. Talis Saule Archdeacon

    Index Scriptorium Estoniae

    Riekstins, Maris

    2008-01-01

    Läti annab peatselt Läänemeremaade Nõukogu eesistuja teatepulga üle Taanile. Läti välisminister Maris Riekstins Läänemeremaade Nõukogu teemadest ning suhetest Venemaaga. Maris Riekstins'i CV

  15. Internal Versus External Fixation of Charcot Midfoot Deformity Realignment.

    Science.gov (United States)

    Lee, Daniel J; Schaffer, Joseph; Chen, Tien; Oh, Irvin

    2016-07-01

    Internal and external fixation techniques have been described for realignment and arthrodesis of Charcot midfoot deformity. There currently is no consensus on the optimal method of surgical reconstruction. This systematic review compared the clinical results of surgical realignment with internal and external fixation, specifically in regard to return to functional ambulation, ulcer occurrence, nonunion, extremity amputation, unplanned further surgery, deep infection, wound healing problems, peri- or intraoperative fractures, and total cases with any complication. A search of multiple databases for all relevant articles published from January 1, 1990, to March 22, 2014, was performed. A logistic regression model evaluated each of the outcomes and its association with the type of fixation method. The odds of returning to functional ambulation were 25% higher for internal fixation (odds ratio [OR], 1.259). Internal fixation had a 42% reduced rate of ulcer occurrence (OR, 0.578). External fixation was 8 times more likely to develop radiographic nonunion than internal fixation (OR, 8.2). Internal fixation resulted in a 1.5-fold increase in extremity amputation (OR, 1.488), a 2-fold increase in deep infection (OR, 2.068), a 3.4-fold increase in wound healing complications (OR, 3.405), and a 1.5-fold increase in the total number of cases experiencing any complication (OR, 1.525). This was associated with a 20% increase in the need for unplanned further surgery with internal fixation (OR, 1.221). Although internal fixation may decrease the risk of nonunion and increase return to functional ambulation, it had a higher rate of overall complications than external fixation for realignment and arthrodesis of Charcot midfoot deformity. [Orthopedics. 2016; 39(4):e595-e601.]. Copyright 2016, SLACK Incorporated.

  16. Spaces of Modernism: Ljubica Marić in Context

    Czech Academy of Sciences Publication Activity Database

    Bajgarová, Jitka

    2010-01-01

    Roč. 47, č. 1 (2010), s. 109-111 ISSN 0018-7003. [Spaces of Modernism: Ljubica Marić in Context. Beograd, 05.11.2009-07.11.2009] Institutional research plan: CEZ:AV0Z90580513 Keywords : Ljubica Marić * Serbian composer Subject RIV: AL - Art, Architecture, Cultural Heritage

  17. Tooth anatomy

    Science.gov (United States)

    ... whole tooth. This area is known as the "pulp" of the tooth. The jawbone is attached to ... JC, eds. Robbins and Cotran Pathologic Basis of Disease . 9th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap ...

  18. Major destructive asymptomatic lumbar Charcot lesion treated with three column resection and short segment reconstruction. Case report, treatment strategy and review of literature

    Directory of Open Access Journals (Sweden)

    Valancius Kestutis

    2017-01-01

    Full Text Available Charcot's spine is a long-term complication of spinal cord injury. The lesion is often localized at the caudal end of long fusion constructs and distal to the level of paraplegia. However, cases are rare and the literature relevant to the management of Charcot's arthropathy is limited. This paper reviews the clinical features, diagnosis, and surgical management of post-traumatic spinal neuroarthropathy in the current literature. We present a rare case of adjacent level Charcot's lesion of the lumbar spine in a paraplegic patient, primarily treated for traumatic spinal cord lesion 39 years before current surgery. We have performed end-to-end apposition of bone after 3 column resection of the lesion, 3D correction of the deformity, and posterior instrumentation using a four-rod construct. Although the natural course of the disease remains unclear, surgery is always favorable and remains the primary treatment modality. Posterior long-segment spinal fusion with a four-rod construct is the mainstay of treatment to prevent further morbidity. Our technique eliminated the need for more extensive anterior surgery while preserving distal motion

  19. Charcot’s famous secretaries

    Directory of Open Access Journals (Sweden)

    Hélio Afonso Ghizoni Teive

    Full Text Available ABSTRACT At the pinnacle of his career, Professor Charcot had four secretaries: Charles Féré, Pierre Marie, Georges Gilles de la Tourette and Georges Guinon. They helped the great founder of neurology with his activities at La Salpêtrière Hospital and his private clinic, examining patients before he made the final diagnosis.

  20. Can dead man tooth do tell tales? Tooth prints in forensic identification.

    Science.gov (United States)

    Christopher, Vineetha; Murthy, Sarvani; Ashwinirani, S R; Prasad, Kulkarni; Girish, Suragimath; Vinit, Shashikanth Patil

    2017-01-01

    We know that teeth trouble us a lot when we are alive, but they last longer for thousands of years even after we are dead. Teeth being the strongest and resistant structure are the most significant tool in forensic investigations. Patterns of enamel rod end on the tooth surface are known as tooth prints. This study is aimed to know whether these tooth prints can become a forensic tool in personal identification such as finger prints. A study has been targeted toward the same. In the present in-vivo study, acetate peel technique has been used to obtain the replica of enamel rod end patterns. Tooth prints of upper first premolars were recorded from 80 individuals after acid etching using cellulose acetate strips. Then, digital images of the tooth prints obtained at two different intervals were subjected to biometric conversion using Verifinger standard software development kit version 6.5 software followed by the use of Automated Fingerprint Identification System (AFIS) software for comparison of the tooth prints. Similarly, each individual's finger prints were also recorded and were subjected to the same software. Further, recordings of AFIS scores obtained from images were statistically analyzed using Cronbach's test. We observed that comparing two tooth prints taken from an individual at two intervals exhibited similarity in many cases, with wavy pattern tooth print being the predominant type. However, the same prints showed dissimilarity when compared with other individuals. We also found that most of the individuals with whorl pattern finger print showed wavy pattern tooth print and few loop type fingerprints showed linear pattern of tooth prints. Further more experiments on both tooth prints and finger prints are required in establishing an individual's identity.

  1. Role of dynamic MRI in the follow-up of acute Charcot foot in patients with diabetes mellitus

    International Nuclear Information System (INIS)

    Zampa, Virna; Bargellini, Irene; Turini, Francesca; Ortori, Simona; Bartolozzi, Carlo; Rizzo, Loredana; Piaggesi, Alberto

    2011-01-01

    To evaluate the usefulness of magnetic resonance imaging (MRI) in assessing the level of activity of acute Charcot foot, monitoring treatment response and predicting healing time. Forty diabetic patients with acute Charcot foot were prospectively enrolled. Patients underwent limb immobilization and were followed every 3 months by clinical examination (skin temperature and circumferences) and MRI. MR protocol included T1-weighted and fast spin echo inversion recovery (FSE-IR) sequences, and a dynamic study (fast spoiled gradient echo), after gadolinium administration (0.1 ml/kg). The contrast medium uptake rate at D-MRI and the signal intensity (SI) ratio on the FSE-IR sequence were measured. At baseline, mean contrast medium uptake rate was 136±49.7% and the mean SI ratio was 5±3. A high intra- and inter-observer agreement was found for the contrast medium uptake rate, whereas a low agreement was observed for the SI ratio. At 3 months' follow-up, reduction of the contrast medium uptake rate was observed in all patients with improved clinical findings (n = 34), whereas the SI ratio was reduced in 15/34 (44.1%) patients. Mean healing time was significantly related to the baseline contrast medium uptake rate (P=0.005); it was 5.3 ± 2.7 months in patients with contrast medium uptake rate ≤100%, compared with 9.1 ± 2.5 months in the remaining patients (P=0.0003). Contrast medium uptake rate obtained at D-MRI represents a reproducible parameter that is reliable for predicting and monitoring treatment outcome in acute Charcot foot. (orig.)

  2. Role of dynamic MRI in the follow-up of acute Charcot foot in patients with diabetes mellitus

    Energy Technology Data Exchange (ETDEWEB)

    Zampa, Virna; Bargellini, Irene; Turini, Francesca; Ortori, Simona; Bartolozzi, Carlo [University of Pisa, Department of Diagnostic and Interventional Radiology, Pisa (Italy); Rizzo, Loredana; Piaggesi, Alberto [University of Pisa, Department of Endocrinology and Metabolism, Diabetic Foot Section, Pisa (Italy)

    2011-08-15

    To evaluate the usefulness of magnetic resonance imaging (MRI) in assessing the level of activity of acute Charcot foot, monitoring treatment response and predicting healing time. Forty diabetic patients with acute Charcot foot were prospectively enrolled. Patients underwent limb immobilization and were followed every 3 months by clinical examination (skin temperature and circumferences) and MRI. MR protocol included T1-weighted and fast spin echo inversion recovery (FSE-IR) sequences, and a dynamic study (fast spoiled gradient echo), after gadolinium administration (0.1 ml/kg). The contrast medium uptake rate at D-MRI and the signal intensity (SI) ratio on the FSE-IR sequence were measured. At baseline, mean contrast medium uptake rate was 136{+-}49.7% and the mean SI ratio was 5{+-}3. A high intra- and inter-observer agreement was found for the contrast medium uptake rate, whereas a low agreement was observed for the SI ratio. At 3 months' follow-up, reduction of the contrast medium uptake rate was observed in all patients with improved clinical findings (n = 34), whereas the SI ratio was reduced in 15/34 (44.1%) patients. Mean healing time was significantly related to the baseline contrast medium uptake rate (P=0.005); it was 5.3 {+-} 2.7 months in patients with contrast medium uptake rate {<=}100%, compared with 9.1 {+-} 2.5 months in the remaining patients (P=0.0003). Contrast medium uptake rate obtained at D-MRI represents a reproducible parameter that is reliable for predicting and monitoring treatment outcome in acute Charcot foot. (orig.)

  3. Jean-Martin Charcot, father of modern neurology: an homage 120 years after his death

    OpenAIRE

    Gomes, Marleide da Mota; Engelhardt, Eliasz

    2013-01-01

    Jean-Martin Charcot was a pioneer in a variety of subjects, including nervous system diseases; anatomy; physiology; pathology; and diseases of ageing, joints, and lungs. His medical achievements were mainly based on his anatomopathological proficiency, his observation, and his personal thoroughness that favored the delineation of the nosology of the main neurological diseases, including multiple sclerosis, amyotrophic lateral sclerosis, Parkinson’s disease, peroneal muscular atrophy, and hyst...

  4. Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study.

    Science.gov (United States)

    Ferrarin, Maurizio; Lencioni, Tiziana; Rabuffetti, Marco; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide

    2013-07-02

    In a previous study we identified 3 different gait patterns in a group of children with CMT1A disease: Normal-like (NL), Foot-drop (FD), Foot-drop and Push-off Deficit (FD&POD). Goal of the present study was to perform a follow-up evaluation of the same group of patients to analyze possible changes of gait features in relation to disease progression or specific therapy. Nineteen children with CMT1A were evaluated clinically (CMT-Examination Score and Overall Neuropathy Limitation Scale) and through gait analysis 18.2±1.5 months after a baseline evaluation. Meanwhile, 3 of them had foot surgery. Fifteen out of the 16 non-operated patients significantly changed at least one of the two parameters associated to primary signs (FD and/or POD). Eleven participants worsened at least one parameter and 9 improved one parameter. CMTES significantly worsened for the group of non-operated patients. However, there was no change in CMTES score in 4 patients and in ONLS score in 11. At subgroup level, participants originally belonging to NL group showed a trend towards a foot-drop deficit (-15%, ns); FD and FD&POD subgroups did not change their primary signs, although significant changes were identified individually. All 3 patients operated have improved push-off and proximal joint patterns during walking. Clinical scores did not change within any sub-group. Subtle changes occurring in 1.5 year in gait features of CMT1A children can be instrumentally identified. Such changes show a large inter-subject variability, with some patients even improving their walking pattern. There is anecdotal evidence that foot surgery may improve the push-off phase of gait.

  5. Tooth wear

    Directory of Open Access Journals (Sweden)

    Tušek Ivan

    2014-01-01

    Full Text Available Tooth wear is the loss of dental hard tissue that was not caused by decay and represents a common clinical problem of modern man. In the etiology of dental hard tissue lesions there are three dominant mechanisms that may act synergistically or separately:friction (friction, which is caused by abrasion of exogenous, or attrition of endogenous origin, chemical dissolution of dental hard tissues caused by erosion, occlusal stress created by compression and flexion and tension that leads to tooth abfraction and microfracture. Wear of tooth surfaces due to the presence of microscopic imperfections of tooth surfaces is clinically manifested as sanding veneers. Tribology, as an interdisciplinary study of the mechanisms of friction, wear and lubrication at the ultrastructural level, has defined a universal model according to which the etiopathogenesis of tooth wear is caused by the following factors: health and diseases of the digestive tract, oral hygiene, eating habits, poor oral habits, bruxism, temporomandibular disorders and iatrogenic factors. Attrition and dental erosion are much more common in children with special needs (Down syndrome. Erosion of teeth usually results from diseases of the digestive tract that lead to gastroesophageal reflux (GER of gastric juice (HCl. There are two basic approaches to the assessment of the degree of wear and dental erosion. Depending on the type of wear (erosion, attrition, abfraction, the amount of calcium that was realised during the erosive attack could be determined qualitatively and quantitatively, or changes in optical properties and hardness of enamel could be recorded, too. Abrasion of teeth (abrasio dentium is the loss of dental hard tissue caused by friction between the teeth and exogenous foreign substance. It is most commonly provoked by prosthetic dentures and bad habits, while its effect depends on the size of abrasive particles and their amount, abrasive particle hardness and hardness of tooth

  6. Follow up of MRI bone marrow edema in the treated diabetic Charcot foot – a review of patient charts

    Science.gov (United States)

    Chantelau, Ernst-A.; Zweck, Brigitte; Haage, Patrick

    2018-01-01

    ABSTRACT Background: Ill-defined areas of water-like signal on bone magnetic resonance imaging (MRI), characterized as bone marrow edema or edema-equivalent signal-changes (EESC), is a hallmark of active-stage pedal neuro-osteoarthropathy (Charcot foot) in painless diabetic neuropathy, and is accompanied by local soft-tissue edema and hyperthermia. The longitudinal effects on EESC of treating the foot in a walking cast were elucidated by reviewing consecutive cases of a diabetic foot clinic. Study design: Retrospective observational study, chart review Material and methods: Cases with active-stage Charcot foot were considered, in whom written reports on baseline and follow-up MRI studies were available for assessment. Only cases without concomitant infection or skin ulcer were chosen, in whom both was documented, onset of symptomatic foot swelling and patient compliance with cast treatment. Results: From 1994 to 2017, 45 consecutive cases in 37 patients were retrieved, with 95 MRI follow-up studies (1–6 per case, average interval between studies 13 weeks). Decreasing EESC was documented in 66/95 (69%) follow-up studies. However, 29/95 (31%) studies revealed temporarily increasing, migrating or stagnating EESC. Conclusion: EESC on MRI disappear in response to prolonged offloading and immobilizing treatment; however, physiologic as well as pathologic fluctuations of posttraumatic EESC have to be considered when interpreting the MR images. Conventional MRI is useful for surveillance of active-stage Charcot foot recovery. PMID:29713425

  7. Major destructive asymptomatic lumbar Charcot lesion treated with three column resection and short segment reconstruction. Case report, treatment strategy and review of literature.

    Science.gov (United States)

    Valancius, Kestutis; Garg, Gaurav; Duicu, Madalina; Hansen, Ebbe Stender; Bunger, Cody

    2017-01-01

    Charcot's spine is a long-term complication of spinal cord injury. The lesion is often localized at the caudal end of long fusion constructs and distal to the level of paraplegia. However, cases are rare and the literature relevant to the management of Charcot's arthropathy is limited. This paper reviews the clinical features, diagnosis, and surgical management of post-traumatic spinal neuroarthropathy in the current literature. We present a rare case of adjacent level Charcot's lesion of the lumbar spine in a paraplegic patient, primarily treated for traumatic spinal cord lesion 39 years before current surgery. We have performed end-to-end apposition of bone after 3 column resection of the lesion, 3D correction of the deformity, and posterior instrumentation using a four-rod construct. Although the natural course of the disease remains unclear, surgery is always favorable and remains the primary treatment modality. Posterior long-segment spinal fusion with a four-rod construct is the mainstay of treatment to prevent further morbidity. Our technique eliminated the need for more extensive anterior surgery while preserving distal motion. © The Authors, published by EDP Sciences, 2017.

  8. Avangardistid Moskvas / Mari Sobolev

    Index Scriptorium Estoniae

    Sobolev, Mari, 1968-

    2000-01-01

    Valdek Alberi ja Taave Tuutma videoinstallatsioonist "Think different" näitusel "Salon 2000" Moskva Kunstnike Keskmajas 16.-26. III. Kuraator Mari Sobolev. Eesti väljapaneku vastukajast ja Jüri Arrakust, kelle maalid olid näitusel "Balti meistrid", ajalehes "Kommersant". Moskva kunstinäitustest.

  9. Evaluation of autogenous tooth transplantation for replacement of the missing or unrestorable mandibular molar tooth

    Directory of Open Access Journals (Sweden)

    Wahiduj Jaman

    2017-06-01

    Full Text Available This study was undertaken to evaluate the functional and occlusal stability of autogenous tooth transplantation. A total of 30 patients were included. Among them, 21 participants received transplanted first molar and the remaining 9 received transplanted second molar. In all the cases, donor tooth were third molar. In each participant, extraction of un-restorable first or second molar tooth was performed which was then replaced by atrumatic extracted third molar tooth. Each third molar tooth was placed in the recipient extracted socket, followed by the evaluation of the occlusion and then stabilized with arch bar and ligature wire. Clinical follow-up evaluation was performed at 15 days, 3 and 12 months in respect to occlusal stability, tooth mobility and periodontal status. It was found that 23 transplanted tooth were successful and the remaining 7 tooth need long-term observation for the final outcome, which was statistically significant. It can be concluded that the autogenous tooth transplantation can replace missing tooth to ensure the preservation of function, aesthetic and to prevent bone resorption of the missing area of the jaw, which can lead to exceptional esthetic and functional outcome.

  10. [Marie Heiberg. Üks naine kurbade silmadega] / Marko Mägi

    Index Scriptorium Estoniae

    Mägi, Marko

    2010-01-01

    Arvustus: Heiberg, Marie. Üks naine kurbade silmadega : Eesti luuletaja Marie Heibergi õnne ja valu, rõõmu ja mure lugu kirjades / [koostajad Iivi Lepik, Kirsten Simmo]. Tallinn : Eesti Teatri- ja Muusikamuuseum : SE & JS, 2010

  11. Marie and Pierre Curie. Life in extremes

    International Nuclear Information System (INIS)

    Roethlein, Brigitte

    2008-01-01

    In Paris in 1894, two young physicists fall in love: Marie Sklodowska and Pierre Curie. They get married and make great contributions to science, research radioactivity and discover new chemical elements. The marriage of Marie and Pierre Curie is quite modern: They work together as equals, share their thoughts and pursue their plans together as partners. They share an absolute interest in science, a love of nature, and a sceptic attitude towards the sophisticated society of the Belle Epoque. They are together 24 hours a day with hardly ever any disagreement. Whenever one of them is ill - which is quite often because of the high level of radioactivity in their laboratory -, the other will nurse him or her. After only twelve years of mutual love, Pierre Curie dies. Marie raises their two daughters on her own and continues her research. In 1911, she will be the first scientist that ever gets a second Nobel Prize. (orig.) [de

  12. Experimental Physical Sciences Vistas: MaRIE (draft)

    Energy Technology Data Exchange (ETDEWEB)

    Shlachter, Jack [Los Alamos National Laboratory

    2010-09-08

    To achieve breakthrough scientific discoveries in the 21st century, a convergence and integration of world-leading experimental facilities and capabilities with theory, modeling, and simulation is necessary. In this issue of Experimental Physical Sciences Vistas, I am excited to present our plans for Los Alamos National Laboratory's future flagship experimental facility, MaRIE (Matter-Radiation Interactions in Extremes). MaRIE is a facility that will provide transformational understanding of matter in extreme conditions required to reduce or resolve key weapons performance uncertainties, develop the materials needed for advanced energy systems, and transform our ability to create materials by design. Our unique role in materials science starting with the Manhattan Project has positioned us well to develop a contemporary materials strategy pushing the frontiers of controlled functionality - the design and tailoring of a material for the unique demands of a specific application. Controlled functionality requires improvement in understanding of the structure and properties of materials in order to synthesize and process materials with unique characteristics. In the nuclear weapons program today, improving data and models to increase confidence in the stockpile can take years from concept to new knowledge. Our goal with MaRIE is to accelerate this process by enhancing predictive capability - the ability to compute a priori the observables of an experiment or test and pertinent confidence intervals using verified and validated simulation tools. It is a science-based approach that includes the use of advanced experimental tools, theoretical models, and multi-physics codes, simultaneously dealing with multiple aspects of physical operation of a system that are needed to develop an increasingly mature predictive capability. This same approach is needed to accelerate improvements to other systems such as nuclear reactors. MaRIE will be valuable to many national

  13. Marie and Irene Curie. The first female Nobel Prize winners; Marie en IreneCurie. De eerste vrouwelijke Nobelprijswinnaars

    Energy Technology Data Exchange (ETDEWEB)

    Noordenbos, G. [Joke Smit Instituut voor Vrouwenstudies, Universiteit Leiden, Leiden (Netherlands)

    2003-07-01

    Marie Curie was awarded the Nobel Prize in 1903 and in 1911. Also her daughter, Irene Joliot-Curie, received a Nobel Prize for science in 1935. In this book an overview is given of the academic world at that time: limited access to universities for women, the carriers of both women in physics and their pioneering research and discoveries, the refusal of Marie Curie by the French Academy of Sciences, the awarding of the Nobel Prize and the assignment of Irene Joliot-Curie as the first female minister in France, the impact of the two World Wars, their married and private lives and the constant smear campaign of the press against both women. The lives and works of both women are hold against the light of the present position of women in physical sciences. [Dutch] In 1903, precies honderd jaar geleden, ontving Marie Curie als eerste vrouw de Nobelprijs voor de Wetenschap, gevolgd door een tweede Nobelprijs in 1911. Ook haar dochter Irene Joliot-Curie kreeg de Nobelprijs voor de wetenschap in 1935. Marie and Irene Curie schetst een breed beeld van de academische wereld waarin beide vrouwen zich bewogen: de beperkte toegang van vrouwen tot de universiteit, hun carrisres in de natuurkunde en baanbrekende ontdekkingen, de afwijzing van Marie door de Franse Academie des Sciences, de toekenning van de Nobelprijs en de benoeming van Irene als eerste vrouwelijke minister in Frankrijk, de invloed van de twee Wereldoorlogen, hun huwelijks- en priveleven en de niet aflatende hetze van de pers tegen beiden. In de door mannen gedomineerde wereld van de natuurwetenschappen liep de uitzonderingspositie van beide vrouwen als rode draad door hun curieuze levens. Het leven en werk van de Curies wordt geactualiseerd door deze tegen het licht te houden van de huidige positie van vrouwen in de natuurwetenschappen. Het bereiken van de top van de wetenschap door vrouwen blijkt nog steeds uitzonderlijk.

  14. Mathematical description of tooth flank surface of globoidal worm gear with straight axial tooth profile

    Science.gov (United States)

    Połowniak, Piotr; Sobolak, Mariusz

    2017-12-01

    In this article, a mathematical description of tooth flank surface of the globoidal worm and worm wheel generated by the hourglass worm hob with straight tooth axial profile is presented. The kinematic system of globoidal worm gear is shown. The equation of globoid helix and tooth axial profile of worm is derived to determine worm tooth surface. Based on the equation of meshing the contact lines are obtained. The mathematical description of globoidal worm wheel tooth flank is performed on the basis of contact lines and generating the tooth side by the extreme cutting edge of worm hob. The presented mathematical model of tooth flank of TA worm and worm wheel can be used e.g. to analyse the contact pattern of the gear.

  15. Recent advances in engineering of tooth and tooth structures using postnatal dental cells

    Directory of Open Access Journals (Sweden)

    Masaki J. Honda

    2010-02-01

    This review focuses on the performance of postnatal and adult dental cells that have been used for generating teeth. Their ability to contribute to tooth development was assessed in the omentum or in the tooth socket. Adult dental cells were limited in their potential owing to various parameters. From these results described, new approaches for regenerated teeth are proposed in this review. One strategy to replace teeth is tooth root engineering using tissue from postnatal teeth. Since the enamel organ epithelium disappears after tooth maturation, the epithelial rest cells of Malassez were evaluated to determine their capacity to generate enamel. From these results, it is suggested that erupted mature teeth have cell sources with the capacity to produce tooth root. The development of biological approaches for tooth root regeneration using postnatal dental cells is promising and remains one of the greatest challenges in the dental field in the years to come.

  16. Mary as Mother in the Flores de Mayo in Poblacion, Oslob

    Directory of Open Access Journals (Sweden)

    Patricia Marion Y. Lopez

    2016-06-01

    Full Text Available The paper reflects on the meanings of the Flores de Mayo ritual as performed in a town on the southeastern coast of Cebu through the examination of Mary as a “semantically open” symbol. The essay illustrates how ideas about Mary are constructed through the discourse of the Church and are in turn, reinforced through a Church-instituted and regulated ritual. An analysis of selected elements of the ritual however, reveals that the symbol of Mary has the potential to hold “other” kinds of meanings that slip in between “official” and “unofficial” discourses, highlighting how Mary continues to be a negotiated field between church authorities and the popular faithful.

  17. Special Workshop of Marie Curie Fellows on Research and Training in Physics and Technology

    CERN Multimedia

    Patrice Loiez

    2002-01-01

    Photo 0210006_07a: Prof. L. Maiani, Director General of CERN. Addressing the Marie Curie Worshop held at CERN 3-4 October 2002. Title of this talk:"Function of Large-scale Facilities and Centres of Excellence". Photo 0210006_14a: Prof. L. Maiani, Director General of CERN. Addressing the Marie Curie Worshop held at CERN 3-4 October 2002. Title of this talk:"Function of Large-scale Facilities and Centres of Excellence". Photo 0210006_22: Dr. David Plane (CERN) introducing Dr. Theodore Papazoglou from the European Commission. Addressing the Marie Curie Worshop held at CERN 3-4 October 2002. Title of this talk:"Marie Curie Fellowships in the 6th Framework Programme". Photo 0210006_28a: Dr. Nora Brambilla, Vice-President of Marie Curie Fellow Association, INFN and Dept. of Physics, University of Milan. Addressing the Marie-Curie Worshop held at CERN 3-4 October 2002. Title of this talk:"Marie Curie Fellows Association". Photo 0210006_29a: Dr. Nora Brambilla, Vice-President of Marie Curie Fellow Association, INFN a...

  18. Tooth - abnormal colors

    Science.gov (United States)

    ... medlineplus.gov/ency/article/003065.htm Tooth - abnormal colors To use the sharing features on this page, please enable JavaScript. Abnormal tooth color is any color other than white to yellowish- ...

  19. Mary Leue: A Tribute.

    Science.gov (United States)

    Becker, Ellen; Becker, Larry; McPheeters, Tom; Mercogliano, Chris

    1999-01-01

    Mary Leue started the Free School, an independent, alternative elementary school in inner-city Albany (New York), based on open democratic education dedicated to the authentic lives of children. Other accomplishments include a community-investment organization, a magazine of alternative education, a magazine for empowering families, and a…

  20. L-3-n-Butylphthalide Protects HSPB8 K141N Mutation-Induced Oxidative Stress by Modulating the Mitochondrial Apoptotic and Nrf2 Pathways

    Directory of Open Access Journals (Sweden)

    Xiao-Dong Yang

    2017-07-01

    Full Text Available Charcot–Marie–Tooth disease (CMT, also known as hereditary motor and sensory neuropathy, is the most common inherited peripheral nerve disorder. Missense mutations, such as K141N, in the small heat shock protein HSPB8 are known to cause distal hereditary motor neuropathy 2A (dHMN2A or Charcot-Marie-Tooth neuropathy type 2L (CMT2L. However, of critical clinical significance, very few specific therapies for this disease exist. In the present study, we investigated the impact of mutant K141N HSPB8 on mitochondrial distribution and function in a cellular model of CMT2L. Our results indicate that K141N HSPB8 induced mitochondrial aggregation and caused increased oxidative stress injury. As an extraction from Chinese celery Apium graveolens Linn seeds, L-3-n-Butylphthalide (NBP, has been reported to exert many neuroprotective effects, we interrogated whether NBP could elicit a protective effect on the cell injury typically caused by HSPB8 K141N mutations. We found NBP could reverse the pathological processes induced by HSPB8 K141N mutation via an antioxidant effect, modulation of the Bax/Bcl-2 mitochondrial apoptotic and Nrf2 pathways. We propose a novel function of HSPB8, highlighting the consequence of the K141N pathogenic mutation. Furthermore, we suggest NBP may have promising therapeutic potential in the treatment of CMT2L.

  1. Duration of off-loading and recurrence rate in Charcot osteo-arthropathy treated with less restrictive regimen with removable walker

    DEFF Research Database (Denmark)

    Christensen, Tomas M; Gade-Rasmussen, Birthe; Pedersen, Lis W

    2013-01-01

    Recent literature on acute diabetic Charcot osteoarthropathy (CA) reports unusually long periods of off-loading. Data suggest that this might increase the re-currence rate. Subsequently we evaluated the influence of duration of off-loading on the risk of required re-casting....

  2. Eisma sadamahoone = Eisma port building / Mari Kurismaa ; kommenteerinud Krista Aren

    Index Scriptorium Estoniae

    Kurismaa, Mari, 1956-

    2015-01-01

    Eluruumid Eisma sadamahoones (Eisma küla, Vihula vald, Lääne-Virumaa). Sisekujunduse autorid Mari Kurismaa, Indrek Allmann; arhitekt Indrek Allmann (AB Pluss). Eesti Sisearhitektide Liidu aastapreemia 2014/2015 parima kodu eest. Lühidalt Mari Kurismaast ja Indrek Allmannist

  3. Mari Martin - vahelüli looja ja kandja vahel / Mari Martin ; intervjueerinud Tanel Veenre

    Index Scriptorium Estoniae

    Martin, Mari, 1983-

    2009-01-01

    Kalamari Promotioni tegevjuht, Tartu Ülikoolis majandust õppiv Mari Martin oma esimestest sammudest moemaailmas, kaubamärkide ReUse RePublic (premeeriti noorte äriideede võistlusel "Ajujaht 2009" 175000 krooniga) ja Tallinn Dolls loomisest, eesti disaineritest, unistustest seoses eesti disainiga

  4. Mari Koger : "Arhitekte on palju. Tuleb leida õige" / Gitte Hint

    Index Scriptorium Estoniae

    Hint, Gitte

    2003-01-01

    Mari Koger (sünd. 1973) kodu kujundamisest, planeerimisest, valgustusest, värvidest, suhtlemisest kliendiga. Mari Kogerist, loetletud tema tehtud ühiskondlike ruumide sisekujundused aastast 2002. M. Koger töötab Boom.ee OÜ-s. Ill.: M. Kogeri värv. portree

  5. Reliability of the Swedish version of the Exercise Self-Efficacy Scale (S-ESES): a test-retest study in adults with neurological disease.

    Science.gov (United States)

    Ahlström, Isabell; Hellström, Karin; Emtner, Margareta; Anens, Elisabeth

    2015-03-01

    To examine the test-retest reliability of the Swedish translated version of the Exercise Self-Efficacy Scale (S-ESES) in people with neurological disease and to examine internal consistency. Test-retest study. A total of 30 adults with neurological diseases including: Parkinson's disease; Multiple Sclerosis; Cervical Dystonia; and Charcot-Marie-Tooth disease. The S-ESES was sent twice by surface mail. Completion interval mean was 16 days apart. Weighted kappa, intraclass correlation coefficient 2,1 [ICC (2,1)], standard error of measurement (SEM), also expressed as a percentage value (SEM%), and Cronbach's alpha were calculated. The relative reliability of the test-retest results showed substantial agreement measured using weighted kappa (MD = 0.62) and a very high-reliability ICC (2,1) (0.92). Absolute reliability measured using SEM was 5.3 and SEM% was 20.7. Excellent internal consistency was shown, with an alpha coefficient of 0.91 (test 1) and 0.93 (test 2). The S-ESES is recommended for use in research and in clinical work for people with neurological diseases. The low-absolute reliability, however, indicates a limited ability to measure changes on an individual level.

  6. Congenital vertical talus in four generations of the same family

    International Nuclear Information System (INIS)

    Levinsohn, E. Mark; Shrimpton, Antony E.; Cady, Robert B.; Packard, David S.; Hootnick, David R.

    2004-01-01

    This paper presents four generations of a family with radiographically demonstrated congenital vertical talus (CVT) in whom a HOXD10 gene mutation was identified. Some members of the family with this mutation exhibited cavo-varus foot deformity consistent with a Charcot-Marie-Tooth (CMT)-like disorder. Physical examination was performed on nearly all of the affected and unaffected family members. DNA was extracted from blood obtained from 14 subjects who showed radiographic and clinical features of CVT (two of whom also had CMT), from two subjects with features of CMT but not CVT, and from 20 related family members who were clinically normal. Radiographs show the appearance of uncorrected CVT in infancy, in childhood, and in adulthood. DNA analysis revealed a mutation in a HOXD10gene located on chromosome 2 in all of the affected but none of the unaffected family members. There is an autosomal-dominant-inherited mutation with complete penetrance which is found in all members of a pedigree with CVT, some of whom exhibit a CMT-like foot disorder. Radiologic findings vary depending on the severity of involvement, treatment provided and age of the patient. (orig.)

  7. Congenital vertical talus in four generations of the same family

    Energy Technology Data Exchange (ETDEWEB)

    Levinsohn, E. Mark [Crouse Hospital, Department of Medical Imaging, Syracuse (United States); Shrimpton, Antony E. [SUNY Upstate Medical University, Department of Clinical Pathology, Syracuse (United States); Cady, Robert B. [SUNY Upstate Medical University, Department of Pediatrics, Syracuse (United States); Packard, David S. [SUNY Upstate Medical University, Department of Cell and Developmental Biology, Syracuse (United States); Hootnick, David R. [SUNY Upstate Medical University, Department of Pediatrics, Syracuse (United States); SUNY Upstate Medical University, Department of Cell and Developmental Biology, Syracuse (United States); SUNY Upstate Medical University, Department of Orthopedic Surgery, Syracuse (United States)

    2004-11-01

    This paper presents four generations of a family with radiographically demonstrated congenital vertical talus (CVT) in whom a HOXD10 gene mutation was identified. Some members of the family with this mutation exhibited cavo-varus foot deformity consistent with a Charcot-Marie-Tooth (CMT)-like disorder. Physical examination was performed on nearly all of the affected and unaffected family members. DNA was extracted from blood obtained from 14 subjects who showed radiographic and clinical features of CVT (two of whom also had CMT), from two subjects with features of CMT but not CVT, and from 20 related family members who were clinically normal. Radiographs show the appearance of uncorrected CVT in infancy, in childhood, and in adulthood. DNA analysis revealed a mutation in a HOXD10gene located on chromosome 2 in all of the affected but none of the unaffected family members. There is an autosomal-dominant-inherited mutation with complete penetrance which is found in all members of a pedigree with CVT, some of whom exhibit a CMT-like foot disorder. Radiologic findings vary depending on the severity of involvement, treatment provided and age of the patient. (orig.)

  8. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

    Science.gov (United States)

    Zhao, Z.; Hashiguchi, A.; Sakiyama, Y.; Okamoto, Y.; Tokunaga, S.; Zhu, L.; Shen, H.; Takashima, H.

    2012-01-01

    Objective: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family. Methods: We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened for the mutations of 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip. Results: Investigation of the family history revealed an autosomal dominant transmission pattern. The clinical features of the family included mild weakness and wasting of the distal muscles of the lower limb and foot deformity, without clinical sensory involvement. Electrophysiologic studies revealed motor neuropathy. MRI of the lower limbs showed accentuated fatty infiltration of the gastrocnemius and vastus lateralis muscles. All 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of alanyl-tRNA synthetase (AARS), which was not found in the 4 unaffected members and control subjects. Conclusion: An AARS mutation caused dHMN in a Chinese family. AARS mutations result in not only a CMT phenotype but also a dHMN phenotype. PMID:22573628

  9. A novel kinesin-like protein, KIF1Bbeta3 is involved in the movement of lysosomes to the cell periphery in non-neuronal cells.

    Science.gov (United States)

    Matsushita, Masafumi; Tanaka, Shingo; Nakamura, Norihiro; Inoue, Hiroki; Kanazawa, Hiroshi

    2004-03-01

    The kinesin superfamily protein, KIF1Bbeta, a splice variant of KIF1B, is involved in the transport of synaptic vesicles in neuronal cells, and is also expressed in various non-neuronal tissues. To elucidate the functions of KIF1Bbeta in non-neuronal cells, we analyzed the intracellular localization of KIF1Bbeta and characterized its isoform expression profile. In COS-7 cells, KIF1B colocalized with lysosomal markers and expression of a mutant form of KIF1Bbeta, lacking the motor domain, impaired the intracellular distribution of lysosomes. A novel isoform of the kinesin-like protein, KIF1Bbeta3, was identified in rat and simian kidney. It lacks the 5th exon of the KIF1Bbeta-specific tail region. Overexpression of KIF1Bbeta3 induced the translocation of lysosomes to the cell periphery. However, overexpression of KIF1Bbeta3-Q98L, which harbors a pathogenic mutation associated with a familial neuropathy, Charcot-Marie-Tooth disease type 2 A, resulted in the abnormal perinuclear clustering of lysosomes. These results indicate that KIF1Bbeta3 is involved in the translocation of lysosomes from perinuclear regions to the cell periphery.

  10. Mitochondrial dynamics in mammalian health and disease.

    Science.gov (United States)

    Liesa, Marc; Palacín, Manuel; Zorzano, Antonio

    2009-07-01

    The meaning of the word mitochondrion (from the Greek mitos, meaning thread, and chondros, grain) illustrates that the heterogeneity of mitochondrial morphology has been known since the first descriptions of this organelle. Such a heterogeneous morphology is explained by the dynamic nature of mitochondria. Mitochondrial dynamics is a concept that includes the movement of mitochondria along the cytoskeleton, the regulation of mitochondrial architecture (morphology and distribution), and connectivity mediated by tethering and fusion/fission events. The relevance of these events in mitochondrial and cell physiology has been partially unraveled after the identification of the genes responsible for mitochondrial fusion and fission. Furthermore, during the last decade, it has been identified that mutations in two mitochondrial fusion genes (MFN2 and OPA1) cause prevalent neurodegenerative diseases (Charcot-Marie Tooth type 2A and Kjer disease/autosomal dominant optic atrophy). In addition, other diseases such as type 2 diabetes or vascular proliferative disorders show impaired MFN2 expression. Altogether, these findings have established mitochondrial dynamics as a consolidated area in cellular physiology. Here we review the most significant findings in the field of mitochondrial dynamics in mammalian cells and their implication in human pathologies.

  11. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.

    Science.gov (United States)

    Burgunder, J-M; Schöls, L; Baets, J; Andersen, P; Gasser, T; Szolnoki, Z; Fontaine, B; Van Broeckhoven, C; Di Donato, S; De Jonghe, P; Lynch, T; Mariotti, C; Spinazzola, A; Tabrizi, S J; Tallaksen, C; Zeviani, M; Harbo, H F; Finsterer, J

    2011-02-01

    These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated. To collect data about planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed. The best level of evidence for genetic testing recommendation (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders, a precise description of the phenotype, including the use of immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing. These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence. © 2010 The Author(s). European Journal of Neurology © 2010 EFNS.

  12. ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

    Science.gov (United States)

    Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L.; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H.; Barsottini, Orlando G. P.; Kawarai, Toshitaka

    2016-01-01

    Abstract Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/ KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot–Marie–Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot–Marie–Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/ KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot–Marie–Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot–Marie–Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot–Marie-Tooth disease (CMT2A2/HMSN2A2/ MFN2 , CMT2B1/ LMNA , CMT2B2/ MED25 , CMT2B5/ NEFL , ARCMT2F/dHMN2B/ HSPB1 , CMT2K/ GDAP1 , CMT2P/ LRSAM1 , CMT2R/ TRIM2 , CMT2S/ IGHMBP2 , CMT2T/ HSJ1 , CMTRID/ COX6A1 , ARAN-NM/ HINT and GAN/ GAN ), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/ PGN , SPG15/ ZFYVE26, SPG21/ ACP33 , SPG35/ FA2H , SPG46/ GBA2 , SPG55/ C12orf65 and SPG56/ CYP2U1 ), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum ( SLC12A6 ) . Mitochondrial disorders related to Charcot–Marie–Tooth disease type 2 were also excluded by sequencing POLG and

  13. Criteria of immobilization duration of the affected foot in diabetic Charcot neuro-osteoarthropathy

    Directory of Open Access Journals (Sweden)

    Anastasia Gennad'evna Demina

    2014-10-01

    Full Text Available Long-term offloading is the key factor in the treatment of the acute stage of Charcot foot. The indication for remobilization and transition of the affected foot to weight-bearing activities is believed to be based on two factors: the absence of the clinical signs of inflammation and results of the objective diagnostic tests. At the present time, consensus about appropriate methods sufficient for initiating weight-bearing activities after immobilization is absent. This paper discusses current data on clinical and laboratory tests and methods and describes their advantages and disadvantages.

  14. Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

    NARCIS (Netherlands)

    Defesche, J. C.; Hoogendijk, J. E.; de Visser, M.; de Visser, O.; Bolhuis, P. A.

    1990-01-01

    Hereditary motor and sensory neuropathy type 1 (HMSN I) is an autosomal dominant disorder genetically localized on chromosome 1 in a few families and on chromosome 17 in other families. We analyzed linkage between 6 markers of chromosome 1, 2 markers of chromosome 17, and the HMSN I locus using

  15. Development of an IoT early-warning temperature home-monitoring system for diabetic foot ulcer-or Charcot-feet patients

    DEFF Research Database (Denmark)

    Dittmann, Lars; Petersen, Martin Nordal; Yderstræde, Knud Bonnet

    2017-01-01

    In severe cases, diabetic patients can develop ulcers at the feet and lower leg regions.This,together with a condition called Charcot-foot, can lead to severe wounds, numbness and eventually amputation. There are ways to treat the condition, but the key element is early-warning and early treatment....

  16. Mary Magdalene, the Apostola of the Easter Morning: Changes in the Late Medieval Carthusian Office of St Mary Magdalene

    Directory of Open Access Journals (Sweden)

    Katarina Šter

    2017-06-01

    Full Text Available The Office of Mary Magdalene is one of the rare offices of the Carthusian liturgy that was changed after it had been established as a solemn feast with twelve lessons. In Matins, several chants changed their position or were even replaced by new ones. This article examines the relationship between the earlier and the later Office of St Mary Magdalene. Later corrections in the Lauds first antiphon, Maria stabat ad monumentum receive some special attention since they open new questions concerning the unity of the Carthusian liturgical tradition, and a possible connection between individual Carthusian manuscripts.

  17. As contribuições de Charcot e de Marsden para o desenvolvimento dos distúrbios do movimento nos séculos XIX e XX

    Directory of Open Access Journals (Sweden)

    Teive Hélio A.G.

    2001-01-01

    Full Text Available Charcot contribuiu significativamente no século XIX na descrição de várias enfermidades neurológicas, em particular na área dos distúrbios do movimento. Charcot contribuiu de forma exponencial na descrição clínica minuciosa da doença de Parkinson, além de introduzir o primeiro tratamento farmacológico. Na área das hipercinesias realizou estudos sobre a síndrome de Tourette, o diagnóstico diferencial dos tremores, das coréias e o estudo inicial sobre startle. Marsden, recentemente falecido, destacou-se no século XX com inúmeras publicações na área dos movimentos anormais.São contribuições seminais os estudos sobre a doença de Parkinson, distonias, mioclonias , tremor essencial, a descrição das síndromes " Painful Legs Moving Toes ", "Gait Ignition Failure" e o "Tremor Primário da Escrita". As contribuições de Charcot no século XIX e de Marsden no século XX na área dos distúrbios do movimento permitem concluir que ambos foram as figuras mais representativas desta área nos últimos dois séculos.

  18. Jean-Marie Dufour receives the Legion of Honour

    CERN Multimedia

    2001-01-01

    French Ambassador Philippe Petit (left) presents the cross of Knight of the Légion d'Honneur to Jean-Marie Dufour. On Friday 22 June, Jean-Marie Dufour, Head of CERN's Legal Service, was made Knight of the Legion of Honour by Ambassador Philippe Petit, at a ceremony held at the Permanent Mission of France in Geneva. Ambassador Petit is Permanent Representative of France at the United Nations and French delegate at CERN. He was awarded the decoration in recognition of his services. He has played an active part in all the great stages of CERN's development, in fact, ranging from its scientific programmes, to its establishment in its Host States, Switzerland and France, and its opening up to the wider world. The ceremony took place in the presence of Professor Luciano Maiani. The award is an honour to CERN, and the Organization takes this opportunity to convey its friendliest congratulations to Jean-Marie Dufour, a committed European.

  19. Orthodontic Tooth Movement: A Historic Prospective.

    Science.gov (United States)

    Will, Leslie A

    2016-01-01

    The earliest report on orthodontic tooth movement in the English literature was published in 1911. Oppenheim carried out studies on baboons to determine what histologic changes occurred during tooth movement. Reitan and many others carried out research into the nature of tooth movement. The pressure-tension model of tooth movement developed from these studies, whereby the two sides of the tooth responded to forces as if in isolation. A second theory, proposed by Stuteville in 1938, was the hydraulic theory of tooth movement. In this theory, fluid from the vasculature, lymphatic system and intercellular spaces responds to the forces of tooth movement, damping the force and limiting movement. Bien and Baumrind expanded on this theory with their own studies in the 1960s. It is clear that both the pressure-tension and fluid flow concepts have merit, but considerable work needs to be done to ascertain the details so that tooth movement can be managed and controlled. © 2016 S. Karger AG, Basel.

  20. In Remembrance: Mary Frances Lyon

    Indian Academy of Sciences (India)

    2014-12-25

    Dec 25, 2014 ... turn came I told him that I wanted to work on X-chromosome inactivation. He asked ... are many students even in 2015 who get equally excited and curious about it. The 1961 .... (a) Mary Lyon in Kyoto, Japan, 1991. (b) During ...

  1. Louis Leakey and Mary Leakey

    Indian Academy of Sciences (India)

    Permanent link: https://www.ias.ac.in/article/fulltext/reso/020/08/0667-0679. Keywords. Palaeoanthropology; human evolution; Louis Leakey; Mary Leakey; Africa; Olduvai gorge; fossil hominids. Author Affiliations. Rajan Gaur1. Department of Anthropology, Panjab University, Sector 14, Chandigarh UT 160 014, India ...

  2. Mary Grant Seacole: the first nurse practitioner.

    Science.gov (United States)

    Messmer, P R; Parchment, Y

    1998-01-01

    Mary Grant Seacole was born in 1805, in Kingston, Jamaica, to a Jamaican doctress (medicine woman) and a Scottish naval officer. Later Seacole became a doctress, nursing British soldiers during epidemics of cholera, dysentery, and yellow fever in Jamaica, Cuba, and Panama. After refusals by both the British government and Florence Nightingale to be allowed to practice in Scutari, she financed her own way to the scene of the Crimean War and then established the British Hotel to serve both the comfort and medical needs of the wounded soldiers. At night, Seacole worked side by side with Nightingale at Scutari as a volunteer nurse. Seacole's fame grew proportionately after she was seen helping wounded soldiers on the battlefields even while the battles were still raging. Seacole died on May 14, 1881, in London. One hundred years later, many members of the London black community, a few members of the Nurses Association of Jamaica and the Friends of Mary Seacole marched to her grave, honoring her as one of the greatest women of all times. Mary Grant Seacole rose above the barriers of racial prejudice and demonstrated the determinism, compassion, and caring that have became the hallmark of nurse practitioners.

  3. Kulturní hodnoty tzv. Mariánského trojúhelníku - Sloup, Vranov, Křtiny

    OpenAIRE

    Bezděková, Veronika

    2009-01-01

    In the Moravian Karst there are three big churches consecrated to The Virgin Mary. These are visited by many pilgrims and have their own calendar of pilgrimages. They are Vranov, Křtiny and Sloup. Churches in these towns are consecrated to The Virgin Mary: Vranov commemorates the birth of The Virgin Mary, Křtiny commemorates the name of The Virgin Mary and Sloup commemorates the sufferings of The Virgin Mary. So we talk about the triangle of The Virgin Mary. This term is the main point of my ...

  4. [Assessment of tooth bleaching efficacy with spectrophotometer].

    Science.gov (United States)

    Zhu, Wenhao; Liu, Chang; Pan, Jie

    2014-06-01

    To analyze the changes in CIE L*, a*, and b* at cervical, body, and incisal sites after tooth bleaching by using a spectrophotometer. Sixty-seven intact and healthy maxillary central incisors were in-vestigated. These incisors were darker than A3 according to the Vita Classical shade guide. The CIE tooth shade parameters L*, a*, and b* were simultaneously recorded at three tooth areas (cervical, body, and incisal) with a spectrophotometer before and after tooth bleaching (35%H2O2 coordinating with Beyond whitening accelerator irradiating). The shade dif-ferential (DeltaE) was calculated. ANOVA, paired t-test, and Pearson correlation analysis were used for data analysis. The efficacy rates of tooth bleaching were satisfactory, with 86.6%, 86.6%, and 85.1% in the cervical, body, and incisal sites, respectively. The average values of DeltaE were 5.09, 4.44, and 4.40 in the cervical, body, and incisal sites. Tooth bleaching significantly increased L* and significantly decreased a* and b* in all tooth areas (P spectrophotometer could objectively evaluate the whitening effect of tooth bleaching at the different tooth sites. The tooth bleaching system (35%H202 coordinating with Beyond whitening accelerator irradiating) exerts powerful bleaching actions in most of the tooth areas investigated. The order of tooth bleaching effectiveness is cervicalbody>incisal. Yellow coloration is decreased mainly at the cervical site, and brightness was increased mostly at theincisal site. The effectiveness of tooth bleaching increases as the baseline b* value increases.

  5. Special Workshop of Marie Curie Fellows on Research and Training in Physics and Technology

    CERN Multimedia

    Patrice Loiez

    2002-01-01

    Photo 0210004_1: Prof. Ugo Amaldi, University of Milano Bicocca and Tera Foundation, Italy. Addressing the Marie Curie Workshop held at CERN 3-4 October 2002. Title of this talk:"Research Developments on Medical Physics". Photo 0210004_2: Marie Curie Fellows at CERN. Participating in Marie Curie Workshop held at CERN 3-4 October 2002.

  6. Overview of Tooth Disorders

    Science.gov (United States)

    ... teeth using a thin resin cement. Bleaching, or tooth whitening, is a process used by dentists to lighten ... following? Damage to only the hard outer surface (enamel) of the tooth An incomplete fracture of a ...

  7. 'BRS Mari': nova cultivar de pimenta dedo-de-moça para processamento 'BRS Mari': new hot pepper cultivar for processing

    Directory of Open Access Journals (Sweden)

    Sabrina Isabel C de Carvalho

    2009-12-01

    Full Text Available 'BRS Mari' é uma nova cultivar de pimenta dedo-de-moça desenvolvida para uso múltiplo, como produto in natura, processada na forma de molho líquido ou desidratada em flocos, moída junto com as sementes, para a produção de pimenta tipo 'calabresa'. A cv. 'BRS Mari' foi desenvolvida a partir da população 'CNPH 0039' por meio de seis ciclos de seleção massal com autofecundação controlada. A nova cultivar apresenta plantas de polinização aberta com hábito de crescimento intermediário, com aproximadamente 90 cm de altura e 1,25 m de largura, com resistência múltipla a doenças, com destaque para o virus Pepper Yellow Mosaic Virus (PepYMV e nematóide das galhas (Meloidogyne javanica, resistência mediana ao oídio (Oidium sicula, mancha bacteriana (Xanthomonas spp. e antracnose (Colletotrichum spp.. A colheita dos frutos tem início cerca de 70 dias após o transplante. Nas condições da região Centro-Oeste, 'BRS Mari' apresentou boa uniformidade de planta, ótima qualidade de fruto e grande potencial produtivo, alcançando 35 t ha-1 em seis meses, quando cultivada no espaçamento de 1 m entre plantas e 1,5 m entre linhas. Os frutos são alongados e pendentes, típicos do tipo dedo-de-moça, com passagem de coloração verde claro, amarelo com antocianina e laranja quando imaturos e vermelho intenso quando maduros, com aproximadamente 6,0 cm de comprimento, 1,4 cm de largura e cerca de 1,7 mm de espessura da parede. A principal característica da 'BRS Mari' é o elevado teor de capsaicina, aproximadamente 90.000 SHU (Unidades de Calor Scoville, mais elevado quando comparada com outras cultivares do mesmo grupo.'BRS Mari' is a new hot pepper cultivar suitable for processing as sauce or dehydrated flakes, ordinarily known in Brazil as 'calabresa' type, as well as for fresh market. Hot pepper cv. 'BRS Mari' was obtained from population 'CNPH 0039', through six cycles of mass selection with controlled selfing of selected plants. The

  8. Bon appetite! / Mari-Liis Rebane

    Index Scriptorium Estoniae

    Rebane, Mari-Liis

    2009-01-01

    Pimedate Ööde 13. filmifestivali alafestivali Animated Dreams täispikki animafilme: Austraalia "Mary ja Max" (režissöör Elliot, Adam), Rootsi-Taani-Norra "Metropia" (režissöör Tarik Saleh), Iisraeli-Austraalia "9,99 dollarit" (režissöör Tatia Rosenthal)

  9. Dental Caries (Tooth Decay)

    Science.gov (United States)

    ... Materials Contact Us Home Research Data & Statistics Dental Caries (Tooth Decay) Dental caries (tooth decay) remains the most prevalent chronic disease ... adults, even though it is largely preventable. Although caries has significantly decreased for most Americans over the ...

  10. Dental Caries (Tooth Decay)

    Science.gov (United States)

    ... Contact Us Home Research Data & Statistics Share Dental Caries (Tooth Decay) Dental caries (tooth decay) remains the most prevalent chronic disease ... adults, even though it is largely preventable. Although caries has significantly decreased for most Americans over the ...

  11. Rosie Carpe and the Virgin Mary: Modelling Modern Motherhood

    Directory of Open Access Journals (Sweden)

    Pauline Eaton

    2016-06-01

    Full Text Available Marie NDiaye’s 2001 novel, Rosie Carpe, incorporates, as one of its several instances of parenting failure, the narrative of the decline of a single mother from adequacy to abuse. This narrative, which is the focus of this article, might be said to put flesh on the bones of Julia Kristeva’s deconstruction of the Virgin Mary in her 1980s essay ‘Stabat Mater’. Kristeva saw the Marian model as out of date but she interrogated its enduring power and its continuing influence on our cultural perceptions of maternity. NDiaye’s eponymous Rosie realises she is pregnant but has no idea how this has come about. Rosie is not represented as a woman who has a religious faith but she decides to accept her child as a holy miracle. This article analyses how the ‘mythology’ of the Virgin Mary, and other biblical intertext, is woven into the narrative of Rosie’s experience of motherhood, so as to counterpoint and illuminate Rosie’s bleak and raw inner experience of maternity, an experience which, while confirming that Rosie is not, and never could have been, a modern Virgin Mary nevertheless refreshes the human stories at the root of the Christian narrative.

  12. Klassika & ekskremendid / Mari Sobolev

    Index Scriptorium Estoniae

    Sobolev, Mari, 1968-

    2002-01-01

    20.-21. aprillil toimus Pärnus 8. Fideo- ja Vilmifestival alapealkirjaga "Eksperimendid ja klassika". Peakorraldaja Rael Artel. Rami Raski filmist "Legowitz 1999" (soome rühmitus Vivid), läti filmist "Love, death & television", Concordia ülikooli ("Ülemus") ja Academia Grata (portreefilmid Asta Isakist, Andrus Joonasest jm.) programmist, Kadriann Kibuse ja Liina Paakspuu filmist "Urban Obsessions", Mirja-Mari Smidti ja Allan Tõnissoo videost, Marianne Männi koomiksitest kataloogis

  13. Pressure ulcers and Charcot's definitions: report on two cases

    Directory of Open Access Journals (Sweden)

    Hélio Afonso Ghizoni Teive

    Full Text Available CONTEXT AND OBJECTIVE: Pressure ulcers are lesions caused by inadequate blood flow and tissue malnourishment secondary to prolonged pressure on skin, soft connective tissues, muscle and/or bones. The authors report two distinct clinical situations of severely compromised neurological patients who shared several predisposing factors for pressure ulcers, but with opposite outcomes regarding the development of pressure ulcers. CASE REPORTS: The first case was a young patient in a persistent vegetative state who developed pressure ulcers that resulted in secondary sepsis and death. The second case was a patient with a diagnosis of amyotrophic lateral sclerosis who, in spite of being bedridden for several months with severe immobility, never developed pressure ulcers. These intriguing contrary clinical situations had already been defined by Charcot in the nineteenth century, with his creation of the expression "decubitus ominosus". He indicated that patients with amyotrophic lateral sclerosis usually did not develop this form of complication, as was illustrated by the cases presented here.

  14. The Mesoscale Science of the Matter-Radiation Interactions in Extremes (MaRIE) project

    Energy Technology Data Exchange (ETDEWEB)

    Kippen, Karen Elizabeth [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Montoya, Donald Raymond [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2017-08-17

    The National Nuclear Security Administration (NNSA) requires the ability to understand and test how material structures, defects, and interfaces determine performance in extreme environments such as in nuclear weapons. To do this, MaRIE will be an x-ray source that is laser-like and brilliant with very fl exible and fast pulses to see at weapons-relevant time scales, and with high enough energy to study critical materials. The Department of Energy (DOE) has determined there is a mission need for MaRIE to deliver this capability. MaRIE can use some of the existing infrastructure of the Los Alamos Neutron Science Center (LANSCE) and its accelerator capability. MaRIE will be built as a strategic partnership of DOE national laboratories and university collaborators.

  15. Fluoridation and tooth wear in Irish adults.

    LENUS (Irish Health Repository)

    Burke, F M

    2010-10-01

    The aim of this study was to determine the prevalence of tooth wear in adults in Ireland and its relationship with water fluoridation. The National Survey of Adult Oral Health was conducted in 2000\\/2001. Tooth wear was determined using a partial mouth examination assessing the upper and lower anterior teeth. A total of 2456 subjects were examined. In this survey, increasing levels and severity of tooth wear were associated with ageing. Men were more affected by tooth wear and were more likely to be affected by severe tooth wear than women. It was found that age, and gender were significant predictors of tooth wear (P < 0.01). Overall, there was no significant relationship between fluoridation and tooth wear in this study.

  16. Trans-Colonial Collaboration and Slave Narrative: Mary Prince Revisited

    Directory of Open Access Journals (Sweden)

    Michelle Gadpaille

    2011-10-01

    Full Text Available In 1831 in London, two formidable women met: Mary Prince, an ex-slave from Bermuda, who had crossed the Atlantic to a qualified freedom, and Susanna Strickland, an English writer. The narrative that emerged from this meeting was The History of Mary Prince, which played a role in the fight for slave emancipation in the British Empire. Prince disappeared once the battle was won, while Strickland emigrated to Upper Canada and, as Susanna Moodie, became an often quoted 19th century Canadian writer. Prince dictated, Strickland copied, and the whole was lightly edited by Thomas Pringle, the anti-slavery publisher at whose house the meeting took place. This is the standard account. In contesting this version, the paper aims to reinstate Moodie as co-creator of the collaborative Mary Prince text by considering multiple accounts of the meeting with Prince and to place the work in the context of Moodie’s pre- and post-emigration oeuvre on both sides of the Atlantic.

  17. Mary Somerville and the world of science

    CERN Document Server

    Chapman, Allan

    2015-01-01

    Mary Somerville (1780-1872), after whom Somerville College Oxford was named, was the first woman scientist to win an international reputation entirely in her own right, rather than through association with a scientific brother or father. She was active in astronomy, one of the most demanding areas of science of the day, and flourished in the unique British tradition of Grand Amateurs, who paid their own way and were not affiliated with any academic institution. Mary Somerville was to science what Jane Austen was to literature and Frances Trollope to travel writing. Allan Chapman’s vivid account brings to light the story of an exceptional woman, whose achievements in a field dominated by men deserve to be very widely known.

  18. Investigation of EPR signals on tooth enamel

    Energy Technology Data Exchange (ETDEWEB)

    Pavlenko, A; Mironova-Ulmane, N; Polakov, M; Riekstina, D [Institute of Solid State Physics, University of Latvia, Riga (Latvia)

    2007-12-15

    Calcified tissues are involved in continues metabolic process in human organism exchanging a number of chemical elements with environment. The rate of biochemical reactions is tissue dependent and the slowest one at the tooth enamel, the most mineralized tissue of human organism. The long time stability and unique chemical composition make tooth enamel suitable for number of application. The assessment of individual radiation dose by Electron Paramagnetic Resonance (EPR) and evaluations of elemental composition by Instrumentation Neutron Activation Analysis (INAA) are the well known procedures where properties of tooth enamel intensively used. The current work is focused on investigation of EPR signals and determination of chemical composition on several teeth samples having different origin. The EPR spectra and INAA element content of milk tooth, caries tooth, and paradantose tooth have been compared to each other. The results showed that the intensity of EPR signal is much higher for the caries tooth than the for paradantose tooth that is in agreement with depleted Ca content.

  19. Radikaalsus muuseumi kaitsva teki all / Mari Sobolev

    Index Scriptorium Estoniae

    Sobolev, Mari, 1968-

    2004-01-01

    Rotermanni soolalaos avatud Marco (Marko) Laimre isiknäituse "Küsimused ja vastused" puhul 13. IV toimunud konverentsist. Johannes Saare, Eha Komissarovi, Hanno Soansi, Anders Härmi ja Mari Sobolevi ettekannetest

  20. Tooth whitening: what we now know.

    Science.gov (United States)

    Carey, Clifton M

    2014-06-01

    Current research about tooth whitening shows that it is safe and effective when manufacturer's protocol is followed, yet there are risks of which the profession and users should be aware. This update provides a summary of current research and assessment of the safety and efficacy of tooth whitening regimens. Tooth whitening has become one of the most frequently requested dental procedures by the public. The public has come to demand whiter, more perfect smiles and in response many choices for tooth whitening have been made available. These include home-based products such as toothpastes, gels, and films, as well as in-office based systems where products containing highly concentrated bleaching agents are applied under professional supervision. The profession and public have been aware of certain risks related to tooth whitening such as increased tooth sensitivity and gingival irritation. New research has shown that there are other risks such as tooth surface roughening and softening, increased potential for demineralization, degradation of dental restorations, and unacceptable color change of dental restorations. The new research is also focused on optimizing whitening procedures to reduce tooth sensitivity and to increase the persistence of the whitening. Current reports in the literature are reviewed that are related to the use of peroxide based whitening methods. These reports include in vitro studies for method optimization and mechanism as well as clinical studies on effects of various whitening regimens. When manufacturer's instructions are followed, hydrogen peroxide and carbamide peroxide based tooth whitening is safe and effective. Patients should be informed of the risks associated with tooth whitening and instructed on identification of adverse occurrences so that they may seek professional help as needed. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. On the Turn of Two Millennia (60 Years of the Mari Archaeological Expedition

    Directory of Open Access Journals (Sweden)

    Nikitin Valeriy V.,

    2017-03-01

    Full Text Available The article is dedicated to the 60th Anniversary of the Mari Archaeological Expedition and summarizes the two decades of its studies (1996-2016 into the early cultures of the Mari region, starting from the era of the original settlement (Mesolithic, through the Neolithic-Eneolithic, Bronze Age, Early Iron Age and up to the Middle Ages. The expedition studied stations and settlements of primitive cultures, as well as unfortified and fortified settlements and necropolises. Special studies focused on formation and development of the early Mari culture, as well as the material and spiritual culture of the medieval Mari. The expedition continues its survey exploration in order to identify new archaeological sites. During the reported period, twelve monographs were published and three monographs prepared based on the expedition’s materials.

  2. Sympathetic neuropathy in diabetes mellitus patients does not elicit Charcot osteoarthropathy

    DEFF Research Database (Denmark)

    Christensen, Tomas M; Simonsen, Lene; Holstein, Per E

    2011-01-01

    AIM: The aim of the study was to determine the degree of neuropathy (autonomic and somatic) in patients with diabetes mellitus with or without Charcot osteoarthropathy (CA). METHODS: Forty-nine patients with diabetes mellitus type 1 or 2 were investigated. The patient population of interest...... with first toe amputation (n=5), a high-risk group for development of CA, and two control groups consisting of diabetes patients with (n=9) or without somatic neuropathy (n=11) were investigated. Regional blood flow in the feet was measured by venous occlusion plethysmography. Quantitation of somatic...... neuropathy was done by the Neuropathy Disability Score and modified Neuropathy Symptom Score. Quantitation of autonomic neuropathy was done by measurements of local venoarteriolar sympathetic axon reflex in the feet and of heart rate variability during deep breathing and orthostatic challenge. RESULTS...

  3. Leadership, Longevity, and Leaning In: An Interview With Mary Jo (Joey) Bulfin.

    Science.gov (United States)

    Prestia, Angela S

    2018-06-01

    This column profiles Mary Jo Bulfin, MBA, RN, CENP, chief executive officer of St. Mary's Medical Center, West Palm Beach, Florida. Ms Bulfin began her career as a staff nurse in the organization where she is now the CEO and discusses her career path and lessons learned.

  4. Evolution of high tooth replacement rates in sauropod dinosaurs.

    Science.gov (United States)

    D'Emic, Michael D; Whitlock, John A; Smith, Kathlyn M; Fisher, Daniel C; Wilson, Jeffrey A

    2013-01-01

    Tooth replacement rate can be calculated in extinct animals by counting incremental lines of deposition in tooth dentin. Calculating this rate in several taxa allows for the study of the evolution of tooth replacement rate. Sauropod dinosaurs, the largest terrestrial animals that ever evolved, exhibited a diversity of tooth sizes and shapes, but little is known about their tooth replacement rates. We present tooth replacement rate, formation time, crown volume, total dentition volume, and enamel thickness for two coexisting but distantly related and morphologically disparate sauropod dinosaurs Camarasaurus and Diplodocus. Individual tooth formation time was determined by counting daily incremental lines in dentin. Tooth replacement rate is calculated as the difference between the number of days recorded in successive replacement teeth. Each tooth family in Camarasaurus has a maximum of three replacement teeth, whereas each Diplodocus tooth family has up to five. Tooth formation times are about 1.7 times longer in Camarasaurus than in Diplodocus (315 vs. 185 days). Average tooth replacement rate in Camarasaurus is about one tooth every 62 days versus about one tooth every 35 days in Diplodocus. Despite slower tooth replacement rates in Camarasaurus, the volumetric rate of Camarasaurus tooth replacement is 10 times faster than in Diplodocus because of its substantially greater tooth volumes. A novel method to estimate replacement rate was developed and applied to several other sauropodomorphs that we were not able to thin section. Differences in tooth replacement rate among sauropodomorphs likely reflect disparate feeding strategies and/or food choices, which would have facilitated the coexistence of these gigantic herbivores in one ecosystem. Early neosauropods are characterized by high tooth replacement rates (despite their large tooth size), and derived titanosaurs and diplodocoids independently evolved the highest known tooth replacement rates among archosaurs.

  5. Evolution of high tooth replacement rates in sauropod dinosaurs.

    Directory of Open Access Journals (Sweden)

    Michael D D'Emic

    Full Text Available BACKGROUND: Tooth replacement rate can be calculated in extinct animals by counting incremental lines of deposition in tooth dentin. Calculating this rate in several taxa allows for the study of the evolution of tooth replacement rate. Sauropod dinosaurs, the largest terrestrial animals that ever evolved, exhibited a diversity of tooth sizes and shapes, but little is known about their tooth replacement rates. METHODOLOGY/PRINCIPAL FINDINGS: We present tooth replacement rate, formation time, crown volume, total dentition volume, and enamel thickness for two coexisting but distantly related and morphologically disparate sauropod dinosaurs Camarasaurus and Diplodocus. Individual tooth formation time was determined by counting daily incremental lines in dentin. Tooth replacement rate is calculated as the difference between the number of days recorded in successive replacement teeth. Each tooth family in Camarasaurus has a maximum of three replacement teeth, whereas each Diplodocus tooth family has up to five. Tooth formation times are about 1.7 times longer in Camarasaurus than in Diplodocus (315 vs. 185 days. Average tooth replacement rate in Camarasaurus is about one tooth every 62 days versus about one tooth every 35 days in Diplodocus. Despite slower tooth replacement rates in Camarasaurus, the volumetric rate of Camarasaurus tooth replacement is 10 times faster than in Diplodocus because of its substantially greater tooth volumes. A novel method to estimate replacement rate was developed and applied to several other sauropodomorphs that we were not able to thin section. CONCLUSIONS/SIGNIFICANCE: Differences in tooth replacement rate among sauropodomorphs likely reflect disparate feeding strategies and/or food choices, which would have facilitated the coexistence of these gigantic herbivores in one ecosystem. Early neosauropods are characterized by high tooth replacement rates (despite their large tooth size, and derived titanosaurs and

  6. Esther Schor, ed. The Cambridge Companion to Mary Shelley

    Directory of Open Access Journals (Sweden)

    Anne BERTON

    2006-06-01

    Full Text Available “Today, whether she is found between staid cloth covers, in paperback, on the screen or in cyberspace, Mary Shelley is everywhere,” writes Esther Schor in her Introduction to this collection of essays (2. Interest in “the Author of Frankenstein” and of other works has grown steadily over the last twenty years, thanks notably to the publication of her Journals (The Journals of Mary Shelley, 1814-1844, ed. Paula R. Feldman and Diana Scott-Kilvert, 2 vols, Oxford: Clarendon, 1987, of her Lette...

  7. Navodnenija v umah zactroishtshikov / Maris Kuuda

    Index Scriptorium Estoniae

    Kuuda, Maris

    2007-01-01

    Kohalikel omavalitsustel pole piisavalt hoobasid sundida arendajaid üleujutusohuga arvestama. Pärnusse hotelli September rajajad (arhitektid Emil Urbel, Andrus Mark) arvestavad ujutusohuga. Arvamust avaldavad Rene Reisner, Mari Sepp, Ülo Sults, Karri Tiigisoon, Indrek Rannik, Mark Soosaar, Tiiu Pärn, Merle Looring, Rita Sepp, Kaspar Alles

  8. Endodontic Treatment of an Anomalous Anterior Tooth with the Aid of a 3-dimensional Printed Physical Tooth Model.

    Science.gov (United States)

    Byun, Chanhee; Kim, Changhwan; Cho, Seungryong; Baek, Seung Hoon; Kim, Gyutae; Kim, Sahng G; Kim, Sun-Young

    2015-06-01

    Endodontic treatment of tooth formation anomalies is a challenge to clinicians and as such requires a complete understanding of the aberrant root canal anatomy followed by careful root canal disinfection and obturation. Here, we report the use of a 3-dimensional (3D) printed physical tooth model including internal root canal structures for the endodontic treatment of a challenging tooth anomaly. A 12-year-old boy was referred for endodontic treatment of tooth #8. The tooth showed class II mobility with swelling and a sinus tract in the buccal mucosa and periapical radiolucency. The tooth presented a very narrow structure between the crown and root by distal concavity and a severely dilacerated root. Moreover, a perforation site with bleeding and another ditching site were identified around the cervical area in the access cavity. A translucent physical tooth model carrying the information on internal root canal structures was built through a 3-step process: data acquisition by cone-beam computed tomographic scanning, virtual modeling by image processing, and manufacturing by 3D printing. A custom-made guide jig was then fabricated to achieve a safe and precise working path to the root canal. Endodontic procedures including access cavity preparation were performed using the physical tooth model and the guide jig. At the 7-month follow-up, the endodontically treated tooth showed complete periapical healing with no clinical signs and symptoms. This case report describes a novel method of endodontic treatment of an anomalous maxillary central incisor with the aid of a physical tooth model and a custom-made guide jig via 3D printing technique. Copyright © 2015 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  9. Special Workshop of Marie Curie Fellows on Research and Training in Physics and Technology.

    CERN Multimedia

    Patrice Loiez

    2002-01-01

    Photo 0210008_05a: Dr, Rolf Landua (CERN) explaining to participants of the Marie Curie Workshop (held at CERN 3-4 October 2002) the ATHENA experiment and the Antiproton Decelerator. Photo 0210008_06a: Dr, Rolf Landua (CERN) explaining to participants of the Marie Curie Workshop (held at CERN 3-4 October 2002) the ATHENA experiment and the Antiproton Decelerator. Photo 0210008_08a: Dr, Rolf Landua (CERN) explaining to participants of the Marie Curie Workshop (held at CERN 3-4 October 2002) the ATHENA experiment and the Antiproton Decelerator. Photo 0210008_09a: Dr, Rolf Landua (CERN) explaining to participants of the Marie Curie Workshop (held at CERN 3-4 October 2002) the ATHENA experiment and the Antiproton Decelerator.

  10. Mitochondrial Fusion Proteins and Human Diseases

    Directory of Open Access Journals (Sweden)

    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.

  11. Nano-scale Biophysical and Structural Investigations on Intact and Neuropathic Nerve Fibers by Simultaneous Combination of Atomic Force and Confocal Microscopy

    Directory of Open Access Journals (Sweden)

    Gonzalo Rosso

    2017-08-01

    Full Text Available The links between neuropathies of the peripheral nervous system (PNS, including Charcot-Marie-Tooth1A and hereditary neuropathy with liability to pressure palsies, and impaired biomechanical and structural integrity of PNS nerves remain poorly understood despite the medical urgency. Here, we present a protocol describing simultaneous structural and biomechanical integrity investigations on isolated nerve fibers, the building blocks of nerves. Nerve fibers are prepared from nerves harvested from wild-type and exemplary PNS neuropathy mouse models. The basic principle of the designed experimental approach is based on the simultaneous combination of atomic force microscopy (AFM and confocal microscopy. AFM is used to visualize the surface structure of nerve fibers at nano-scale resolution. The simultaneous combination of AFM and confocal microscopy is used to perform biomechanical, structural, and functional integrity measurements at nano- to micro-scale. Isolation of sciatic nerves and subsequent teasing of nerve fibers take ~45 min. Teased fibers can be maintained at 37°C in a culture medium and kept viable for up to 6 h allowing considerable time for all measurements which require 3–4 h. The approach is designed to be widely applicable for nerve fibers from mice of any PNS neuropathy. It can be extended to human nerve biopsies.

  12. Effect of Electroacupuncture on the Expression of Glycyl-tRNA Synthetase and Ultrastructure Changes in Atrophied Rat Peroneus Longus Muscle Induced by Sciatic Nerve Injection Injury

    Directory of Open Access Journals (Sweden)

    Meng Wang

    2016-01-01

    Full Text Available Glycyl-tRNA synthetase (GlyRS is one of the key enzymes involved in protein synthesis. Its mutations have been reported to cause Charcot-Marie-Tooth disease which demonstrates muscular atrophy in distal extremities, particularly manifested in peroneus muscles. In this situation, the dysfunctions of mitochondria and sarcoplasmic reticulum (SR affect energy supply and excitation-contraction coupling of muscle fibers, therefore resulting in muscular atrophy. Although the treatment of muscular atrophy is a global urgent problem, it can be improved by electroacupuncture (EA treatment. To investigate the mechanism underlying EA treatment improving muscular atrophy, we focused on the perspective of protein synthesis by establishing a penicillin injection-induced sciatic nerve injury model. In our model, injured rats without treatment showed decreased sciatic functional index (SFI, decreased peroneus longus muscle weight and muscle fiber cross-sectional area, aggregated mitochondria with vacuoles appearing, swollen SR, and downregulated mRNA and protein expression levels of GlyRS and myosin heavy chain IIb (MHC-IIb. The injured rats with EA treatment showed significant recovery. These results indicated that EA stimulation can alleviate peroneus longus muscular atrophy induced by iatrogenic sciatic nerve injury through promoting the recovery of GlyRS and muscle ultrastructure and increasing muscle protein synthesis.

  13. Resection arthroplasty, external fixation, and negative pressure dressing for first metatarsophalangeal joint ulcers.

    Science.gov (United States)

    Stone, Craig; Smith, Nicholas

    2011-03-01

    A frequent complication for the diabetic patient is neuropathic ulceration on the plantar surface of the first metatarsophalangeal (MTP) joint which can be difficult to manage. Debridement and resection arthroplasty with temporary external fixation and VAC dressing (Kinetic Concepts Inc, San Antonio, TX) is an alternative operative treatment to amputation. This study examined the outcomes of one center's experience with patients who have undergone this procedure. This retrospective cohort study examined patients who underwent the procedure between March 2002 and March 2010. Information was obtained on relevant outcomes including: the initial procedure, secondary procedures on either foot, total time in external fixation, time until amputation, cause of ulceration and co-morbid conditions. During the study period, 16 patients underwent resection arthroplasty with external fixation for first MTP ulceration. Fourteen of these patients had underlying diabetes mellitus, one had Charcot-Marie-Tooth disease and one had neuropathy of unknown cause. All were available for followup at the end of the study period. Median followup was 38 (range, 3 to 96) months. At latest followup, six patients required amputation, either transmetatarsal or transtibial, to treat their recurring ulceration. Resection arthroplasty with temporary external fixation appears to be a safe, effective and possible alternative to amputation for the treatment of neuropathic ulceration of the first MTP.

  14. Early phenotypical diagnoses in Trembler-J mice model.

    Science.gov (United States)

    Rosso, Gonzalo; Cal, Karina; Canclini, Lucía; Damián, Juan Pablo; Ruiz, Paul; Rodríguez, Héctor; Sotelo, José Roberto; Vazquez, Cristina; Kun, Alejandra

    2010-06-30

    Pmp-22 mutant mice (Trembler-J: B6.D2-Pmp22/J), are used as a model to study Charcot-Marie-Tooth type 1A (CMT1A). The identification of individual genotypes is a routine in the management of the Tr(J) colony. The earliest phenotypic manifestation of the pmp-22 mutation is just about 20th postnatal days, when pups begin to tremble. In this study, a rapid and simple diagnostic method was developed by modifying the Tail Suspension Test (MTST) to determine the difference between the Tr(J) and the wild-type mice phenotype. The animal behavioral phenotypes generated during the test were consistent with the specific genotype of each animal. The MTST allowed us to infer the heterozygous genotype in early postnatal stages, at 11 days after birth. The motor impairment of Tr(J) mice was also analyzed by a Fixed Bar Test (FBT), which revealed the disease evolution according to age. The main advantages of MTST are its objectivity, simplicity, and from the viewpoint of animal welfare, it is a non-invasive technique that combined with his rapidity show its very well applicability for use from an early age in these mice. Copyright 2010 Elsevier B.V. All rights reserved.

  15. Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

    Directory of Open Access Journals (Sweden)

    Donald R. Love

    2013-03-01

    Full Text Available The role of gene deletion and duplication in the aetiology of disease has become increasingly evident over the last decade. In addition to the classical deletion/duplication disorders diagnosed using molecular techniques, such as Duchenne Muscular Dystrophy and Charcot-Marie-Tooth Neuropathy Type 1A, the significance of partial or whole gene deletions in the pathogenesis of a large number single-gene disorders is becoming more apparent. A variety of dosage analysis methods are available to the diagnostic laboratory but the widespread application of many of these techniques is limited by the expense of the kits/reagents and restrictive targeting to a particular gene or portion of a gene. These limitations are particularly important in the context of a small diagnostic laboratory with modest sample throughput. We have developed a gene-targeted, custom-designed comparative genomic hybridisation (CGH array that allows twelve clinical samples to be interrogated simultaneously for exonic deletions/duplications within any gene (or panel of genes on the array. We report here on the use of the array in the analysis of a series of clinical samples processed by our laboratory over a twelve-month period. The array has proven itself to be robust, flexible and highly suited to the diagnostic environment.

  16. Quality assessment of online patient education resources for peripheral neuropathy.

    Science.gov (United States)

    Hansberry, David R; Suresh, Ragha; Agarwal, Nitin; Heary, Robert F; Goldstein, Ira M

    2013-03-01

    Given its practicality, the internet is a primary resource for patients afflicted with diseases like peripheral neuropathy. Therefore, it is important that the readily available online resources on peripheral neuropathy are tailored to the general public, particularly concerning readability. Patient education resources were downloaded from the US National Library of Medicine, Mayo Clinic, National Institute of Neurological Disorders and Stroke, Neuropathy.org, GBS/CIDP Foundation International, Hereditary Neuropathy Foundation, Charcot-Marie-Tooth Association, Foundation for Peripheral Neuropathy, and Neuropathy Action Foundation websites. All patient education material related to peripheral neuropathy was evaluated for its level of readability using the Flesch Reading Ease (FRE) and Flesch-Kincaid Grade Level. The FRE scores averaged 43.4 with only the US National Library of Medicine scoring above 60 (76.5). The Flesch-Kincaid Grade Level scores averaged 11.0. All scores were above a seventh-grade level except the US National Library of Medicine, which had a score of a fifth-grade reading level. Most Americans may not fully benefit from patient education resources concerning peripheral neuropathy education on many of the websites. Only the US National Library of Medicine, which is written at a fifth-grade level, is likely to benefit the average American. © 2013 Peripheral Nerve Society.

  17. Primary culprit for tooth loss!!

    OpenAIRE

    Nuvvula, Sailavanya; Chava, Vijay Kumar; Nuvvula, Sivakumar

    2016-01-01

    Aim: In order to facilitate planning for dental health services and to progress strategies to continue the reduction in tooth loss, it is important to identify the factors that result in such loss. therefore the aim of the study is to investigate the major cause for tooth extraction. Objective: to examine whether the major reason for tooth extraction is dental caries or periodontal disease. Materials and Methods: The study is carried out among the dental practitioners in our district. A quest...

  18. Atypical Odontalgia (Phantom Tooth Pain)

    Science.gov (United States)

    ... atypical facial pain, phantom tooth pain, or neuropathic orofacial pain, is characterized by chronic pain in a tooth ... such as a specialist in oral medicine or orofacial pain. The information contained in this monograph is for ...

  19. Tooth breakage in patients injected with 224Ra

    International Nuclear Information System (INIS)

    Sonnabend, E.; Spiess, H.; Mays, C.W.

    1986-01-01

    Tooth breakage has been common among the 224 Ra patients, especially those injected as teenagers. The fracture of 1 or more teeth was reported by 26% (8/31) of boys and 23% (7/30) of girls injected with 224 Ra at 16-20 years of age. Combining results from all age groups, the incidence of tooth fractures increased significantly with dose (P=0.01). Unlike the normal loss of permanent teeth by periodontal disease, in which the entire tooth is lost, the tooth loss following 224 Ra injection was primarily from tooth resorption near the gum line causing the tooth crowns to break off easily. Eventually the tooth roots may either become incorporated into the jawbone or are resorbed and replaced with bone. These tooth fractures resembled those observed in the U.S. radium dial painters and in dogs injected with bone-seeking α-emitters. (orig.)

  20. A different voice: Mary Hays's the Memoirs of Emma Courtney.

    Science.gov (United States)

    Sharma, A

    2001-01-01

    Mary Hays wrote in the decade of the 1790s, a period of intense creative flowering in England. Writing in a period enshrined to the works of the canonical Wordsworth and Coleridge, Hays explored through her Jacobinical novel, The Memoirs of Emma Courtney, the contentious relationship between self and society. Like other Jacobin women writers - Elizabeth Inchbald, Charlotte Smith and Mary Wollstonecraft - Mary Hays too used her novel to explode the insidious connection between education and gender construction. Emma Courtney is a landmark novel that wrestles with the paradigm of decorum and propriety which disallows women from voicing their aspirations. In the process, Hays merges the plots of the domestic novel of courtship and love with the novel of ideas to create a searing portrait of women's intellectual confinement and psychic dissonance in a society that only projects them in terms of their gender construction. Memoirs of Emma Courtney is a remarkable novel in its depiction of the emotional imbalance created by thwarted desire: intellectual and sexual.

  1. Mary Catherine and Me: Building Cross-Cultural Relationships in "Post-Racial" America

    Science.gov (United States)

    Bruno, Holly Elissa

    2009-01-01

    In 1963, President Obama's parents could not have married legally in a number of states. Mary Catherine and the author graduated from Corning Free Academy in Corning, New York, in June 1963. The lessons they learned were wrenching: "Someone is going to get hurt." Doors that opened for the author slammed in Mary Catherine's face. Holding Mary…

  2. Identificação diferencial de Rhodococcus equi e Dietzia maris em bubalinos Differential identification of Rhodococcus equi and Dietzia maris in buffaloes

    Directory of Open Access Journals (Sweden)

    L.R. Viana

    2009-08-01

    Full Text Available Foram analisados 24 isolados bacterianos oriundos de leite e pele de búfalas (Bubalus bubalis, os quais foram previamente identificados como Rhodococcus equi com o auxílio de fenotipia concisa. Testes fenotípicos complementares e ferramentas moleculares foram utilizados com o objetivo de caracterizar esses isolados, bem como diferenciá-los de outros microrganismos intimamente relacionados. Observaram-se três fenótipos distintos, porém a identificação dos isolados foi inconclusiva. Apenas um dos isolados foi comprovado como sendo R. equi com a realização da PCR espécie-específica, sequenciamento e análise dos fragmentos de DNA. Os demais isolados só foram identificados pelo sequenciamento de fragmento do gene que codifica a região 16S do rRNA universal de bactérias, indicando tratar-se de Dietzia maris. O perfil de susceptibilidade aos antimicrobianos revelou maior resistência dos isolados de D. maris para oxacilina (96% e rifampicina (87%. O isolado de R. equi apresentou resistência à amicacina, oxacilina, penicilina, rifampicina e tetraciclina. Alerta-se para o risco da incorreta identificação dos isolados baseados em testes fenotípicos concisos e para a necessidade de utilização de testes complementares para diferenciação entre R. equi e D. maris.Twenty-four bacterial isolates from milk and skin of buffalo females (Bubalus bubalis, which previously had been identified as Rhodococcus equi by using a restricted number of phenotypical tests for bacterial characterization, were analyzed. The goal of this study was to perform the characterization of these isolates, as well as the differentiation of other microorganisms closely related by using additional phenotypical tests and molecular tools. Based on the phenotypical results, three different biotypes were obtained. However, the identification of the isolates was inconclusive. Only one of the isolates was confirmed as R. equi by the PCR specifically for this species, as

  3. Autotransplantation donor tooth site harvesting using piezosurgery

    OpenAIRE

    Ylikontiola, Leena P.; S?ndor, George K.

    2016-01-01

    Abstract Background: The harvesting of a tooth as a candidate for tooth autotransplantation requires that the delicate dental tissues around the tooth be minimally traumatized. This is especially so for the periradicular tissues of the tooth root and the follicular tissues surrounding the crown. The aim of this report is to describe the use of piezosurgery as an attempt at morbidity reduction in the harvesting of teeth for autotransplantation. Methods: A piezosurgical handpiece and its ...

  4. Mary Abigail Dodge: Journalist & Anti-Feminist.

    Science.gov (United States)

    Beasley, Maurine

    Mary Abigail Dodge, a Washington, D.C., correspondent before and after the United States Civil War, was one of the most acclaimed women journalists of the nineteenth century. Unknown today, Dodge wrote on politics, religion, and contemporary issues for newspapers and magazines and commented prolifically on the role of women in society. After…

  5. TOURISM PLANNING OPPORTUNITIES FOR THE SALT LAKES OF OCNELE MARI AND OCNIŢA

    Directory of Open Access Journals (Sweden)

    POPESCU ANTOANETA-CARINA

    2012-03-01

    Full Text Available Tourism Planning Opportunities for The Salt Lakes of Ocnele Mari and Ocniţa. Ocnele Mari used to be a popular balneal tourism destination in the Southern region of Romania, Oltenia. Due to the hilly climate and the two balneal establishments of Ocnele Mari and Ocniţa, tourists could find the necessary natural cure factors for rheumatic and cardiovascular diseases. However, the salt from Ocnele Mari was also used for industrial purposes, being extracted through solution mining, which proved to be detrimental to the environment. Salt underground dissolution caused land subsidence and landslide in the area, together with the formation of large salt lakes. Security became an issue, the number of tourists diminished and the balneal equipment became obsolete because of lack of modernization investment. Under these circumstances, on the basis of field work, we have reached the conclusion that a better planning of the resort and of the salt lakes would contribute to the economic development of the region.

  6. Proteomic analysis of human tooth pulp: proteomics of human tooth.

    Science.gov (United States)

    Eckhardt, Adam; Jágr, Michal; Pataridis, Statis; Mikšík, Ivan

    2014-12-01

    The unique pulp-dentin complex demonstrates strong regenerative potential, which enables it to respond to disease and traumatic injury. Identifying the proteins of the pulp-dentin complex is crucial to understanding the mechanisms of regeneration, tissue calcification, defense processes, and the reparation of dentin by dental pulp. The lack of knowledge of these proteins limits the development of more efficient therapies. The proteomic profile of human tooth pulp was investigated and compared with the proteome of human dentin and blood. The samples of tooth pulp were obtained from 5 sound permanent human third molars of 5 adults (n = 5). The extracted proteins were separated by 2-dimensional gel electrophoresis, analyzed by nano-liquid chromatography tandem mass spectrometry, and identified by correlating mass spectra to the proteomic databases. A total of 342 proteins were identified with high confidence, and 2 proteins were detected for the first time in an actual human sample. The identified tooth pulp proteins have a variety of functions: structural, catalytic, transporter, protease activity, immune response, and many others. In a comparison with dentin and blood plasma, 140 (pulp/dentin) shared proteins were identified, 37 of which were not observed in plasma. It can be suggested that they might participate in the unique pulp-dentin complex. This proteomic investigation of human tooth pulp, together with the previously published study of human dentin, is one of the most comprehensive proteome lists of human teeth to date. Copyright © 2014 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  7. Chaos M-ary modulation and demodulation method based on Hamilton oscillator and its application in communication.

    Science.gov (United States)

    Fu, Yongqing; Li, Xingyuan; Li, Yanan; Yang, Wei; Song, Hailiang

    2013-03-01

    Chaotic communication has aroused general interests in recent years, but its communication effect is not ideal with the restriction of chaos synchronization. In this paper a new chaos M-ary digital modulation and demodulation method is proposed. By using region controllable characteristics of spatiotemporal chaos Hamilton map in phase plane and chaos unique characteristic, which is sensitive to initial value, zone mapping method is proposed. It establishes the map relationship between M-ary digital information and the region of Hamilton map phase plane, thus the M-ary information chaos modulation is realized. In addition, zone partition demodulation method is proposed based on the structure characteristic of Hamilton modulated information, which separates M-ary information from phase trajectory of chaotic Hamilton map, and the theory analysis of zone partition demodulator's boundary range is given. Finally, the communication system based on the two methods is constructed on the personal computer. The simulation shows that in high speed transmission communications and with no chaos synchronization circumstance, the proposed chaotic M-ary modulation and demodulation method has outperformed some conventional M-ary modulation methods, such as quadrature phase shift keying and M-ary pulse amplitude modulation in bit error rate. Besides, it has performance improvement in bandwidth efficiency, transmission efficiency and anti-noise performance, and the system complexity is low and chaos signal is easy to generate.

  8. Test Tube Tooth: The Next Big Thing.

    Science.gov (United States)

    Yadav, Preeti; Tahir, Mohammed; Yadav, Harsh; Sureka, Rakshit; Garg, Aarti

    2016-06-01

    Unlike some vertebrates and fishes, humans do not have the capacity for tooth regeneration after the loss of permanent teeth. Although artificial replacement with removable dentures, fixed prosthesis and implants is possible through advances in the field of prosthetic dentistry, it would be ideal to recreate a third set of natural teeth to replace lost dentition. For many years now, researchers in the field of tissue engineering have been trying to bioengineer dental tissues as well as whole teeth. In order to attain a whole tooth through dental engineering, that has the same or nearly same biological, mechanical and physical properties of a natural tooth, it's necessary to deal with all the cells and tissues which are concerned with the formation, maintenance and repair of the tooth. In this article we review the steps involved in odontogenesis or organogenesis of a tooth and progress in the bioengineering of a whole tooth.

  9. Potential hosts for Lambertella corni-maris and Phacidium lacerum within the family Rosaceae

    Science.gov (United States)

    Two fungi were described in 2015 and 2016 as pathogens of pome fruit in the Pacific Northwest USA: Lambertella corni-maris on apple (Malus domestica), and Phacidium lacerum (synonym, Ceuthospora pinastri) on apple and d’Anjou pear (Pyrus communis). We documented pathogenicity of L. corni-maris to d...

  10. "Inhumanly brought back to life and misery": Mary Wollstonecraft, Frankenstein, and the Royal Humane Society.

    Science.gov (United States)

    Williams, C

    2001-01-01

    While thorough investigation of many aspects of contemporary scientific developments and Mary Shelley's personal history have provided illuminating contexts for the study of Frankenstein, the activities of the Royal Humane Society, and other bodies and individuals who pioneered and publicized resuscitation techniques, have been comparatively neglected. Here we find a richly documented, highly conspicuous area of scientific endeavour, which generated much excitement in life and literature from the last quarter of the eighteenth century onwards. There are three major points of contact with Frankenstein: Victor Frankenstein's revival of dead tissue to make his creature; the frequent occurrences of unconsciousness and asphyxia, both in the novel and in Mary Shelley's family during the period leading up to its composition, and the widely differing degrees of competence and success with which they are treated; and the possibility that resuscitative techniques were used to revive Mary Shelley's mother, Mary Wollstonecraft, after a suicide attempt. The impact on Frankenstein of Mary Shelley's lifelong distress at the role she played in bringing about her mother's death in childbirth has been thoroughly canvassed by other critics, notably Anne Mellor, but the thought that Mary Shelley, who was herself conceived after her mother's second suicide attempt, might be, in a sense, a child of the dead adds a further turn to the Gothic screw. This study traces a hitherto unexplored intersection between Mary Shelley's first novel and her family history, as well as showing how it launches a formidable attack on the shady ethics and inconsiderate arrogance of some early resuscitators.

  11. Aspectos históricos da visita de Marie Sklodowska Curie a Belo Horizonte

    Directory of Open Access Journals (Sweden)

    Cássius Klay Nascimento

    2011-01-01

    Full Text Available In the year 2011 it is celebrated the Marie Sklodowska Curie Nobel Prize centenary and the International Year of Chemistry. However, it is not generally known that Marie Sklodowska Curie, one of the greatest scientists of all time, visited Belo Horizonte, state of Minas Gerais, Brazil. She arrived by train at Belo Horizonte city on 16 August 1926, coming from Rio de Janeiro and accompanied by her daughter Irène Joliot-Curie. The scientists visited the Institute of Radium of Belo Horizonte. The approach in this work emphasizes the presence of Marie Sklodowska Curie in Belo Horizonte, exploring the admiration and respect that people had for her.

  12. ‘Het witte spook van Mesdag’. De bruid van Matthijs Maris opnieuw bezien’

    NARCIS (Netherlands)

    Bionda, R.W.A.

    2013-01-01

    The Bride (1867-'68) by Matthijs Maris in The Mesdag Collection is without doubt one of his most intriguing early works. Though he defensively described it as only a 'sketch' which he could not bring to a satisfying end, Maris considered this fairly large piece as quite important. Regardless of its

  13. 75 FR 51945 - Safety Zone; Potomac River, St. Mary's River, St. Inigoes, MD

    Science.gov (United States)

    2010-08-24

    ...-AA00 Safety Zone; Potomac River, St. Mary's River, St. Inigoes, MD AGENCY: Coast Guard, DHS. ACTION... of the St. Mary's River, a tributary of the Potomac River. This action is necessary to provide for.... Navy helicopter located near St. Inigoes, Maryland. This safety zone is intended to protect the...

  14. Friendship in the Life and Work of Mary Wollstonecraft: The Making of a Liberal Feminist Tradition

    DEFF Research Database (Denmark)

    Pedersen, Joyce Senders

    2008-01-01

    Mary Wollstonecrafts venskaber placeres indenfor en liberal fortolkningstradition . Udgivelsesdato: Spring 2008......Mary Wollstonecrafts venskaber placeres indenfor en liberal fortolkningstradition . Udgivelsesdato: Spring 2008...

  15. Multiphoton microscopy imaging of developing tooth germs

    Directory of Open Access Journals (Sweden)

    Pei-Yu Pan

    2014-01-01

    Conclusion: In this study, a novel multiphoton microscopy database of images from developing tooth germs in mice was set up. We confirmed that multiphoton laser microscopy is a powerful tool for investigating the development of tooth germ and is worthy for further application in the study of tooth regeneration.

  16. A Radiographic Study of Fused and Geminated Tooth

    Energy Technology Data Exchange (ETDEWEB)

    Park, Chul Jae; Lee, Sang Rae [Dept. of Oral Radiology, College of Dentistry, Kyunhee University, Seoul (Korea, Republic of)

    1990-02-15

    The incidence and several characteristic features of fused and geminated teeth were studied radiographically, with full mouth periapical radiogram and pantomogram, in 4201 patients of mixed dentition and 5358 patients of permanent dentition. The obtained results were as follows: 1. The prevalence was revealed to 2.86%, 0.32%, 0.33%, and 0.06% in deciduous fused tooth, permanent fused tooth, deciduous geminated tooth and permanent geminated tooth respectively, and these anomalies were occurred in female more than male. 2. Fused teeth were observed predominantly in lower anterior teeth area, especially in lateral incisor and canine region, and many cases of deciduous geminated tooth were observed in upper central incisor region. 3. Congenital missing rates of succedaneous tooth in deciduous fused teeth were 57.1%, 85.7%, 71.0%, 69.0% in upper right and left central-lateral incisor regions, lower right and left lateral incisor-canine regions, respectively. 4. Prevalence of dental caries was 42.3%, 18.8% and 5.6% in deciduous fused, deciduous geminated and permanent fused tooth, respectively. 5. In classifying of fused and geminated teeth into 9 type, by following appearance such as number of crown, root, pulp chamber and pulp canal of those teeth, it was more favorable that Type I (2 crown, 2 root, 2 pulp chamber, 2 pulp canal) in deciduous fused tooth and Type IX (1 crown, 1 root, 1 pulp chamber, 1 pulp canal) in permanent used tooth, deciduous and permanent geminated tooth.

  17. A Radiographic Study of Fused and Geminated Tooth

    International Nuclear Information System (INIS)

    Park, Chul Jae; Lee, Sang Rae

    1990-01-01

    The incidence and several characteristic features of fused and geminated teeth were studied radiographically, with full mouth periapical radiogram and pantomogram, in 4201 patients of mixed dentition and 5358 patients of permanent dentition. The obtained results were as follows: 1. The prevalence was revealed to 2.86%, 0.32%, 0.33%, and 0.06% in deciduous fused tooth, permanent fused tooth, deciduous geminated tooth and permanent geminated tooth respectively, and these anomalies were occurred in female more than male. 2. Fused teeth were observed predominantly in lower anterior teeth area, especially in lateral incisor and canine region, and many cases of deciduous geminated tooth were observed in upper central incisor region. 3. Congenital missing rates of succedaneous tooth in deciduous fused teeth were 57.1%, 85.7%, 71.0%, 69.0% in upper right and left central-lateral incisor regions, lower right and left lateral incisor-canine regions, respectively. 4. Prevalence of dental caries was 42.3%, 18.8% and 5.6% in deciduous fused, deciduous geminated and permanent fused tooth, respectively. 5. In classifying of fused and geminated teeth into 9 type, by following appearance such as number of crown, root, pulp chamber and pulp canal of those teeth, it was more favorable that Type I (2 crown, 2 root, 2 pulp chamber, 2 pulp canal) in deciduous fused tooth and Type IX (1 crown, 1 root, 1 pulp chamber, 1 pulp canal) in permanent used tooth, deciduous and permanent geminated tooth.

  18. A bust of Marie Sklodowska Curie at CERN

    CERN Multimedia

    CERN PhotoLab

    1979-01-01

    The Polish Deputy Minister of Energy and Nuclear Power, J. Felicki, presented the Directors General with a bust of Mme Marie Sklodowska Curie on behalf of physicists of Poland (CERN Courier 19 (1979) 164).

  19. Ämari baas sobib USA-le ja brittidele

    Index Scriptorium Estoniae

    2013-01-01

    Eelmisel nädalal Eestit külastanud USA ja Ühendkuningriigi sõjalised esindajad NATO juures kindralleitnandid David R. Hogg ja Christopher Harper kinnitasid, et on valmis oma lennukeid Ämari baasist opereerima

  20. Analysis of tooth tissues using Raman spectroscopy

    International Nuclear Information System (INIS)

    Timchenko, E.V.; Timchenko, P.E.; Kulabukhova, A.Yu.; Volova, L.T.; Rosenbaum, A.Yu.

    2016-01-01

    The results of experimental studies of healthy tooth tissue and tooth tissues during caries disease are presented. Features of Raman spectrum of tooth tissues during caries disease are obtained: the main changes are detected at wavenumbers 956 cm -1 .1069 cm -1 . corresponding to phosphates. and 1241 cm -1 . 1660 cm -1 . corresponding to collagen III and collagen I. respectively. Were introduced criteria allowing to detect caries and to identify weakening of tooth tissues. preceding the caries. The reliability of research results is confirmed by scanning electron microscopy. (paper)

  1. Primary culprit for tooth loss!!

    Directory of Open Access Journals (Sweden)

    Sailavanya Nuvvula

    2016-01-01

    Full Text Available Aim: In order to facilitate planning for dental health services and to progress strategies to continue the reduction in tooth loss, it is important to identify the factors that result in such loss. therefore the aim of the study is to investigate the major cause for tooth extraction. Objective: to examine whether the major reason for tooth extraction is dental caries or periodontal disease. Materials and Methods: The study is carried out among the dental practitioners in our district. A questionnaire containing 10 items was distributed to the dental practitioners, which included age, gender, no of teeth indicated for extraction, the reason for extraction, and the periodontal parameters that are involved with the extracted tooth and were requested to complete the form on every extraction they were to undertake. the study form was collected at the end of the study period and data was subjected to statistical analysis. Results: A total of 502 patients were enrolled during the study period, and a total of 1055 teeth were extracted for several reasons. we found that 51.14%extractions are due to dental caries in case of 20-30years age groups, which is more when compared to tooth loss due to periodontal diseases in this age group. whereas in case of >40years of age group periodontal diseases account for 54.11%, and dental caries accounts for only 29.11%. Showing more teeth were lost due to periodontal disease. Conclusion: therefore we concluded that, caries is the dominant reason for extraction in patients with 20–30 years of age while periodontal disease accounts for the majority of tooth extraction in patients older than 40 years.

  2. Marie Sklodowska-Curie, polonium, radium and radiochemistry

    International Nuclear Information System (INIS)

    Guillaumont, R.

    2011-01-01

    In this work, the author describes how the methodology developed by Marie Curie in discovering polonium and radium has contributed to greater scientific discoveries and how these discoveries have played a great part in the development of science in general and have particularly enriched chemistry. (O.M.)

  3. Jean-Martin Charcot, father of modern neurology: an homage 120 years after his death

    Directory of Open Access Journals (Sweden)

    Marleide da Mota Gomes

    2013-10-01

    Full Text Available Jean-Martin Charcot was a pioneer in a variety of subjects, including nervous system diseases; anatomy; physiology; pathology; and diseases of ageing, joints, and lungs. His medical achievements were mainly based on his anatomopathological proficiency, his observation, and his personal thoroughness that favored the delineation of the nosology of the main neurological diseases, including multiple sclerosis, amyotrophic lateral sclerosis, Parkinson’s disease, peroneal muscular atrophy, and hysteria/epilepsy. The link of this anatomoclinical method with iconographic representations and theatrical lessons, and the rich bibliographical documentations, carried out in a crowded diseased people barn - Salpetrière hospital were the basis of his achievements, which are still discussed 120 years after his death.

  4. Critical Limb Ischemia in Association with Charcot Neuroarthropathy: Complex Endovascular Therapy for Limb Salvage

    International Nuclear Information System (INIS)

    Palena, Luis Mariano; Brocco, Enrico; Manzi, Marco

    2014-01-01

    Charcot neuroarthropathy is a low-incidence complication of diabetic foot and is associated with ankle and hind foot deformity. Patients who have not developed deep ulcers are managed with offloading and supportive bracing or orthopedic arthrodesis. In patients who have developed ulcers and severe ankle instability and deformity, below-the-knee amputation is often indicated, especially when deformity and cutaneous involvement result in osteomyelitis. Ischemic association has not been described but can be present as a part of peripheral arterial disease in the diabetic population. In this extreme and advanced stage of combined neuroischemic diabetic foot disease, revascularization strategies can support surgical and orthopedic therapy, thus preventing osteomyelitis and leading to limb and foot salvage

  5. Critical Limb Ischemia in Association with Charcot Neuroarthropathy: Complex Endovascular Therapy for Limb Salvage

    Energy Technology Data Exchange (ETDEWEB)

    Palena, Luis Mariano, E-mail: marianopalena@hotmail.com [Policlinico Abano Terme, Interventional Radiology Unit (Italy); Brocco, Enrico [Policlinico Abano Terme, Diabetic Foot Department, Foot and Ankle Clinic (Italy); Manzi, Marco [Policlinico Abano Terme, Interventional Radiology Unit (Italy)

    2013-05-09

    Charcot neuroarthropathy is a low-incidence complication of diabetic foot and is associated with ankle and hind foot deformity. Patients who have not developed deep ulcers are managed with offloading and supportive bracing or orthopedic arthrodesis. In patients who have developed ulcers and severe ankle instability and deformity, below-the-knee amputation is often indicated, especially when deformity and cutaneous involvement result in osteomyelitis. Ischemic association has not been described but can be present as a part of peripheral arterial disease in the diabetic population. In this extreme and advanced stage of combined neuroischemic diabetic foot disease, revascularization strategies can support surgical and orthopedic therapy, thus preventing osteomyelitis and leading to limb and foot salvage.

  6. Tooth wear and wear investigations in dentistry.

    Science.gov (United States)

    Lee, A; He, L H; Lyons, K; Swain, M V

    2012-03-01

    Tooth wear has been recognised as a major problem in dentistry. Epidemiological studies have reported an increasing prevalence of tooth wear and general dental practitioners see a greater number of patients seeking treatment with worn dentition. Although the dental literature contains numerous publications related to management and rehabilitation of tooth wear of varying aetiologies, our understanding of the aetiology and pathogenesis of tooth wear is still limited. The wear behaviour of dental biomaterials has also been extensively researched to improve our understanding of the underlying mechanisms and for the development of restorative materials with good wear resistance. The complex nature of tooth wear indicates challenges for conducting in vitro and in vivo wear investigations and a clear correlation between in vitro and in vivo data has not been established. The objective was to critically review the peer reviewed English-language literature pertaining to prevalence and aetiology of tooth wear and wear investigations in dentistry identified through a Medline search engine combined with hand-searching of the relevant literature, covering the period between 1960 and 2011. © 2011 Blackwell Publishing Ltd.

  7. Põhja-Eesti Regionaalhaigla X-korpus = North-Estonian Regional Hospital X-wing / Mari Kurismaa ; intervjueerinud Margit Mutso

    Index Scriptorium Estoniae

    Kurismaa, Mari, 1956-

    2011-01-01

    Tallinnas Sütiste tee 19 asuva haigla juurdeehitise sisekujundusest. Sisearhitekt Mari Kurismaa (Stuudio Kurismaa OÜ). Arhitektid Indrek Suigusaar, Vivian Oruvee (AB Pluss OÜ). Infograafika autor Mari Kaljuste

  8. ReUse Republic annab mõistele "uuskasutus" uue tähenduse / Tanel Veenre, Mari Klein

    Index Scriptorium Estoniae

    Veenre, Tanel, 1977-

    2009-01-01

    Moe- ja disainiagentuuri KalaMari uuest kaubamärgist ReUse Republic. Tegu on seisma jäänud brändirõivaste ümberdisainimise ja (uus)kasutusega. Projekti looja Mari Martin, kaasatud 15 eesti disainerit

  9. Is tooth wear in the primary dentition predictive of tooth wear in the permanent dentition? Report from a longitudinal study.

    LENUS (Irish Health Repository)

    Harding, M A

    2010-03-01

    To determine the prevalence of tooth wear in the permanent dentition of a sample of 12-year-old school children and establish whether an association exists between tooth wear recorded now and tooth wear recorded in their primary dentition at age five.

  10. Correlations between silicic volcanic rocks of the St Mary's Islands (southwestern India) and eastern Madagascar

    DEFF Research Database (Denmark)

    Melluso, Leone; Sheth, Hetu C.; Mahoney, John J.

    2009-01-01

    The St Mary's, Islands (southwestern India) expose silicic volcanic and sub-volcanic rocks (rhyolites and granophyric dacites) emplaced contemporaneously with the Cretaceous igneous province of Madagascar, roughly 88-90 Ma ago. I he St Mary's Islands rocks have phenocrysts of plagioclase...... and isotopic Compositions very close to those of rhyolites exposed between Vatomandry Ilaka and Mananjary in eastern Madagascar, and are distinctly different from rhyolites front other sectors of the Madagascan province. We therefore postulate that the St Mary's and the Vatomandry-Ilaka Mananjary silicic rock...

  11. The Marie Curie Actions at CERN – reaching out beyond particle physics and Europe

    CERN Document Server

    EU Projects Office

    2014-01-01

    The European Commission’s Marie Curie Actions have been a pillar of the EU Framework Programmes for several decades as a means of promoting career development and enhancing mobility of researchers in Europe. This corresponds nicely to one of CERN’s main missions: to train the next generation of scientists and engineers.   The European Commissioner for Education, Culture, Multilingualism, Sport, Media and Youth, Androulla Vassiliou (centre) met the Marie Curie Fellows on her visit to CERN in April 2013. CERN has been pleased to be a major player in the Marie Curie Actions under the Sixth and Seventh Framework Programmes (FP6 from 2002 to 2006 and FP7 from 2007 to 2013), being one of the most successful participants in Europe. Under FP7, CERN was ranked first in Switzerland and fifth in Europe against stiff competition in terms of overall funding. Participation was in all of the Marie Curie Actions: Initial Training Networks, Industry-Academia Partnership Pathways, IRSES, CO...

  12. An Overview of Internal and External Fixation Methods for the Diabetic Charcot Foot and Ankle.

    Science.gov (United States)

    Ramanujam, Crystal L; Zgonis, Thomas

    2017-01-01

    Diabetic Charcot neuroarthropathy (DCN) of the foot and ankle is a challenging disease with regard to clinical presentation, pathogenesis, and prognosis. Its surgical management is equally difficult to interpret based on the wide array of options available. In the presence of an ulceration or concomitant osteomyelitis, internal fixation by means of screws, plates, or intramedullary nailing needs to be avoided when feasible. External fixation becomes a great surgical tool when managing DCN with concomitant osteomyelitis. This article describes internal and external fixation methods along with available literature to enlighten surgeons faced with treating this complex condition. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Naine : masin või loom? / Maris Palgi

    Index Scriptorium Estoniae

    Palgi, Maris

    2007-01-01

    Eero Taltsi, Margus Kiisi, Maia Mölleri, Kaie Luige, Eva Orava ja Maris Palgi projektist "Maine-loom, naine-masin", mida tutvustati 2006. a. Moostes üritusel "Postsovkhoz 6", 2007. a. jaanuaris-veebruaris Tartu Kunstimajas ja Tartu Tampere Majas. Näitused avati E. Taltsi ja M. Kiisi loeng-performance'itega

  14. Mariátegui entre dois mundos: Visões do comunitarismo indígena andino

    Directory of Open Access Journals (Sweden)

    Cristhian Teófilo da Silva

    2014-12-01

    Full Text Available Resumo  Este artigo visa demonstrar que a presença da herança andina no projeto de socialismo “indo-americano” de Mariátegui gerou uma tensão epistemológica original e crítica do pensamento social marxista na América Latina. A partir desta releitura da perspectiva mariateguiana apoiada em duas vertentes, indigenista peruana e marxista europeia, o presente artigo afirma a importância dos estudos sobre o indigenismo para a compreensão dos limites do socialismo de orientação marxista no Peru. O artigo será concluído ressaltando a importância do socialismo indo-americano de Mariátegui para a “descoberta” da constituição híbrida do modo de produção peruano.  Palavras-chave  Indigenismo; marxismo; Peru; José Carlos Mariátegui  --- Resumen  Este artículo tiene como objetivo demostrar que la presencia de la herencia andina en el diseño del socialismo "indoamericano" de Mariátegui ha generado una crítica epistemológica original del pensamiento social marxista en América Latina. De este recuento la perspectiva de Mariátegui apoyada en dos frentes, indigenista peruana y marxista europea, este artículo defiende la importancia de los estudios sobre el indigenismo para la comprensión de los límites del socialismo marxista en el Perú. El artículo concluirá destacando la importancia del socialismo indo-americano de Mariátegui en el "descubrimiento" de la constitución híbrida del modo de producción peruana.  Palabras clave  Indigenismo; marxismo; Perú; José Carlos Mariátegui --- Abstract This article aims to demonstrate that the presence of the Andean heritage in Mariátegui's "Indo-American" socialist project generated a new and critical epistemological tension of the Marxist social thinking in Latin America. From this mariateguian retelling, which is established in two ways, Peruvian indigenous and European Marxist, this article maintains the importance of studies on the indigenous movement to understand

  15. Igal mõisal on oma lugu / Mari-Ann Remmel

    Index Scriptorium Estoniae

    Remmel, Mari-Ann

    2008-01-01

    Kirjastuselt "Tänapäev" ilmus raamat "Mõisalegendid. Harjumaa", koostaja Mari-Ann Remmel, kujundaja Angelika Schneider. Kogumik sisaldab ka ajaloolist ning genealoogilist teavet mõisahoonete ning -omanike kohta

  16. Accelerated tooth eruption in children with diabetes mellitus.

    Science.gov (United States)

    Lal, Shantanu; Cheng, Bin; Kaplan, Selma; Softness, Barney; Greenberg, Ellen; Goland, Robin S; Lalla, Evanthia; Lamster, Ira B

    2008-05-01

    The objective of this study was to evaluate tooth eruption in 6- to 14-year-old children with diabetes mellitus. Tooth eruption status was assessed for 270 children with diabetes and 320 control children without diabetes. Data on important diabetes-related variables were collected. Analyses were performed using logistic regression models. Children with diabetes exhibited accelerated tooth eruption in the late mixed dentition period (10-14 years of age) compared to healthy children. For both case patients and control subjects the odds of a tooth being in an advanced eruptive stage were significantly higher among girls than boys. There was also a trend associating gingival inflammation with expedited tooth eruption in both groups. No association was found between the odds of a tooth being in an advanced stage of eruption and hemoglobin A(1c) or duration of diabetes. Patients with higher body mass index percentile demonstrated statistically higher odds for accelerated tooth eruption, but the association was not clinically significant. Children with diabetes exhibit accelerated tooth eruption. Future studies need to ascertain the role of such aberrations in dental development and complications such as malocclusion, impaired oral hygiene, and periodontal disease. The standards of care for children with diabetes should include screening and referral programs aimed at oral health promotion and disease prevention.

  17. Eesti NATO ukselävel / Mari-Ann Kelam

    Index Scriptorium Estoniae

    Kelam, Mari-Ann, 1946-

    2002-01-01

    Seda, et NATO liitumisläbirääkimistele kutsutavate seas on ka Eesti, saab veel tänagi pidada üheks meie iseseisva riikluse suursaavutuseks, kui mitte imeks, kirjutab Riigikogu liige Mari-Ann Kelam. Autor: Isamaaliit. Parlamendisaadik

  18. Mary Shelley's Frankenstein: what made the Monster monstrous?

    Science.gov (United States)

    Britton, Ronald

    2015-02-01

    This paper discusses the genesis of the famous story of Frankenstein which arose from a dream experienced by Mary Shelley whilst on a holiday shared with her husband Percy Shelley, Lord Byron, Dr Polidori and her step sister Claire Clairmont. The novel relates how the creature created by Victor Frankenstein horrifies him, is rejected by him and called a monster. The monster's ensuing despair and subsequent murderousness is eloquently described. The whole book is clearly connected to Mary Shelley's experience as an infant whose mother died after giving birth to her and her subsequent loss, as a mother, of her own new born infant. It is suggested that the novel imaginatively describes what it is to have been primarily rejected as an infant and to feel regarded as a monster. © 2015, The Society of Analytical Psychology.

  19. Näitused / Mari Sobolev

    Index Scriptorium Estoniae

    Sobolev, Mari, 1968-

    1998-01-01

    Rotermanni soolaladu. "Elektrokardiogramm" (tegevuskunsti üritus); Vaal-galerii. Antoni T̉pies "Litograafiaid aastatest 1973-1995"; Mari Kadanik, Eero Barndõk, Rain Ader "Pildid" (maalid); Paldiski Põhikool. "Niemenlautta ja Hugo Simbergi fotod" (soome kunstniku fotode koopiad, pildistatud enne 1915. a.; Kullo lastegalerii. Neli uut näitust.(lastekunst); Arhitektuurimuuseum. Arnold Matteus - Tartu linna arhitekt (juubelinäitus), Alvar Aalto "Kolm objekti Eestis"; Linnagalerii Tallinnas. "Valge" (ruumi- ja moekunsti näitus); Sammas-galerii. Jüri Jegorow "Insect" (arvutigraafika); Endla Teatri palmisaal. "Muzik in der Kunst" (Tallinna kunstitudengite näitus); Eesti Rahvusraamatukogu. Õie Kütt "Uued ja vanad ehted"

  20. Mary Bidwell Breed: The Educator as Dean.

    Science.gov (United States)

    Fley, Jo Ann; Jaramillo, George R.

    1979-01-01

    Mary Bidwell Breed predicted that midwestern universities would probably "pass through a stage of educational development in which the liberal arts are entirely feminized, the men are entirely commercialized." We can appreciate how close she came to pinpointing trends which did not begin to be reversed until sixty years later.…

  1. Biologically Based Restorative Management of Tooth Wear

    Directory of Open Access Journals (Sweden)

    Martin G. D. Kelleher

    2012-01-01

    Full Text Available The prevalence and severity of tooth wear is increasing in industrialised nations. Yet, there is no high-level evidence to support or refute any therapeutic intervention. In the absence of such evidence, many currently prevailing management strategies for tooth wear may be failing in their duty of care to first and foremost improve the oral health of patients with this disease. This paper promotes biologically sound approaches to the management of tooth wear on the basis of current best evidence of the aetiology and clinical features of this disease. The relative risks and benefits of the varying approaches to managing tooth wear are discussed with reference to long-term follow-up studies. Using reference to ethical standards such as “The Daughter Test”, this paper presents case reports of patients with moderate-to-severe levels of tooth wear managed in line with these biologically sound principles.

  2. Mary McAuliffe. Twilight of the Belle Epoque: The Paris of Picasso, Stravinsky, Proust, Renault, Marie Curie, Gertrude Stein, and Their Friends through the Great War. Lanham, MD: Rowman and Littlefield. 2014. vii + 418 pp.

    Directory of Open Access Journals (Sweden)

    Eric Martone

    2015-01-01

    Full Text Available Review of Mary McAuliffe. Twilight of the Belle Epoque: The Paris of Picasso, Stravinsky, Proust, Renault, Marie Curie, Gertrude Stein, and Their Friends through the Great War . Lanham, MD: Rowman and Littlefield. 2014. vii + 418 pp.

  3. Paying tribute to florence nightingale and Mary Seacole.

    Science.gov (United States)

    Grainger, Angela

    2012-05-30

    Lynn McDonald (letters May 16) says the grounds of St Thomas' Hospital in London are the wrong place for the proposed memorial statue to Mary Seacole, pointing out that the hospital is more associated with Florence Nightingale and her work.

  4. Differentially expressed circulating microRNAs in the development of acute diabetic Charcot foot.

    Science.gov (United States)

    Pasquier, Jennifer; Ramachandran, Vimal; Abu-Qaoud, Moh'd Rasheed; Thomas, Binitha; Benurwar, Manasi J; Chidiac, Omar; Hoarau-Véchot, Jessica; Robay, Amal; Fakhro, Khalid; Menzies, Robert A; Jayyousi, Amin; Zirie, Mahmoud; Al Suwaidi, Jassim; Malik, Rayaz A; Talal, Talal K; Najafi-Shoushtari, Seyed Hani; Rafii, Arash; Abi Khalil, Charbel

    2018-06-05

    Charcot foot (CF) is a rare complication of Type 2 diabetes (T2D). We assessed circulating miRNAs in 17 patients with T2D and acute CF (G1), 17 patients with T2D (G2) and equivalent neuropathy and 17 patients with T2D without neuropathy (G3) using the high-throughput miRNA expression profiling. 51 significantly deregulated miRNAs were identified in G1 versus G2, 37 in G1 versus G3 and 64 in G2 versus G3. Furthermore, we demonstrated that 16 miRNAs differentially expressed between G1 versus G2 could be involved in osteoclastic differentiation. Among them, eight are key factors involved in CF pathophysiology. Our data reveal that CF patients exhibit an altered expression profile of circulating miRNAs.

  5. Edith Marie Thompson (1877–1961), sports and empire settlement administrator

    OpenAIRE

    Williams, Jean

    2012-01-01

    Thompson, Edith Marie (1877–1961), sports and empire settlement administrator, was born at 44 Russell Road, Kensington, London, on 19 May 1877, the only daughter of William Frederic Thompson (1847/8–1921), barrister and mineral and chemical merchant, and his wife, Marie Charlotte, née Warde (1849/50–1900). She was educated at Norland Place School and was a boarder at Cheltenham Ladies' College in 1892–3, at a period when there was still very little sport played at the school. In January 1895,...

  6. Tooth loss prevalence among cardiac males and females

    International Nuclear Information System (INIS)

    Bokhari, S.A.H.; Khan, A.A.; Butt, A.K.

    2007-01-01

    Objective of study was to observe differences of tooth loss prevalence in males and females with Cardiac diseases Poor oral health, tooth loss and periodontal diseases have been reported to be associated with coronary heart diseases. Studies report gender differences in prevalence of cardiac diseases and tooth loss. This paper presents gender differences of tooth loss in cardiac patients of a cardiac hospital of Lahore, Pakistan. Methodology: Age matched Cardiac males and females attending OPD of the Punjab Institute of Cardiology (PIC), Lahore were included in the study. Personal and health-related information were questioned and noted. Oral examination was performed for recording of missing teeth. 1200 CHD study subjects with age-range of 30 to 80 years were enrolled for study. 1045 age matched, 766 (73.30%) males and 279 (26.70%) females were examined for tooth loss. 852 (81.53%) genders had at least one tooth missing. 599 (78.19) males and 253 (90.68%) females were observed with mean tooth loss of 7.5 (SD 8.720) and 11.15 (SD 10.375)respectively statistical association among them was also significant (P= 0.000) with OR of 2.339. More subjects (76.29%) showed a loss of 1-15 teeth that I was also significant among males and females. Tooth loss was significant in age groups of 41-50 years (P=0.001) and 51-60 years (P=0.000) Gender differences of tooth loss prevalence among CHD Subjects were significant with more risk for males as compared to females. (author)

  7. Functional constraints on tooth morphology in carnivorous mammals

    Directory of Open Access Journals (Sweden)

    Smits Peter D

    2012-08-01

    Full Text Available Abstract Background The range of potential morphologies resulting from evolution is limited by complex interacting processes, ranging from development to function. Quantifying these interactions is important for understanding adaptation and convergent evolution. Using three-dimensional reconstructions of carnivoran and dasyuromorph tooth rows, we compared statistical models of the relationship between tooth row shape and the opposing tooth row, a static feature, as well as measures of mandibular motion during chewing (occlusion, which are kinetic features. This is a new approach to quantifying functional integration because we use measures of movement and displacement, such as the amount the mandible translates laterally during occlusion, as opposed to conventional morphological measures, such as mandible length and geometric landmarks. By sampling two distantly related groups of ecologically similar mammals, we study carnivorous mammals in general rather than a specific group of mammals. Results Statistical model comparisons demonstrate that the best performing models always include some measure of mandibular motion, indicating that functional and statistical models of tooth shape as purely a function of the opposing tooth row are too simple and that increased model complexity provides a better understanding of tooth form. The predictors of the best performing models always included the opposing tooth row shape and a relative linear measure of mandibular motion. Conclusions Our results provide quantitative support of long-standing hypotheses of tooth row shape as being influenced by mandibular motion in addition to the opposing tooth row. Additionally, this study illustrates the utility and necessity of including kinetic features in analyses of morphological integration.

  8. Classroom Instruction: The Influences of Marie Clay

    Science.gov (United States)

    McNaughton, Stuart

    2014-01-01

    Marie Clay's body of work has influenced classroom instruction in direct and indirect ways, through large overarching themes in our pedagogical content knowledge as well as specific smart practices. This paper focuses on her the contributions to our thinking about instruction which come from two broad theoretical concepts; emergent literacy…

  9. Use of ultrasound Doppler to determine tooth vitality in a discolored tooth after traumatic injury: its prospects and limitations

    Directory of Open Access Journals (Sweden)

    Yong-Wook Cho

    2014-02-01

    Full Text Available When a tooth shows discoloration and does not respond to the cold test or electric pulp test (EPT after a traumatic injury, its diagnosis can be even more difficult due to the lack of proper diagnostic methods to evaluate its vitality. In these case reports, we hope to demonstrate that ultrasound Doppler might be successfully used to evaluate the vitality of the tooth after trauma, and help reduce unnecessary endodontic treatments. In all three of the present cases, the teeth were discolored after traumatic injuries and showed negative responses to the cold test and EPT. However, they showed distinctive vital reactions in the ultrasound Doppler test during the whole observation period. In the first case, the tooth color returned to normal, and the tooth showed a positive response to the cold test and EPT at 10 wk after the injury. In the second case, the tooth color had returned to its normal shade at 10 wk after the traumatic injury but remained insensitive to the cold test and EPT. In the third case, the discoloration was successfully treated with vital tooth bleaching.

  10. Läbi legendide William Shakespeare'i poole / Maris Peters

    Index Scriptorium Estoniae

    Peters, Maris

    2010-01-01

    Tutvustus: Wells, Stanley. Kas on tõsi, et Shakespeare ...? / tõlkinud Maris Peters. Tallinn : Argo, 2010. Raamat William Shakespeare kohta käivatest legendidest, kuuldustest ja teooriatest ning tema teoste autorsusest

  11. Anne-Marie Sargueil: ilu on kasulik / intervjueerinud Emilie Toomela

    Index Scriptorium Estoniae

    Sargueil, Anne-Marie

    2015-01-01

    Prantsuse Disainiinstituudi juht Anne-Marie Sargueil rääkis prantsuse ja skandinaavia disainist, prantslaste disainieelistustest, uutest suundadest disaini valdkonnas, Eesti Tarbekunsti- ja Disainimuuseumis avatud näitusest "20 prantsuse disainiikooni"

  12. Tooth Retained Implant: No More an Oxymoron

    Directory of Open Access Journals (Sweden)

    Divya Bhat

    2011-03-01

    Full Text Available Introduction: Periodontally af-fected teeth are treated in one of the two ways. (1 Tooth retention after periodontal surgery, in which the degree of regeneration achieved is unpredictable. (2 Tooth extrac-tion and implant placement. Implants have an osseointegrated surface which does not provide adequate shock absorption. Regeneration can be achieved by resecting the crown of the affected tooth and submerging the root. This technique has not had a clinical application so far as the tooth becomes difficult to restore. Placing an implant within the root can make the retained root restorable. At the same time, as the implant is placed within the root surface it achieves a periodontal integration which dampens occlusal forces better than osseointegration. Therefore, such a “tooth retained implant” may serve as an additional treatment option with significant benefits over tooth retention and implant placement alone. The hypothesis: Implants placed within retained roots have shown cementum deposition and attachment of periodontal ligament fibers over their surface. This periodontal attachment may be able to dam-pen forces better than in an osseointegrated implant. Moreover, since an implant is being placed, the crown of the tooth can be resected and submerged. This prevents epithelial migration, allows for the periodontal ligament cells to populate the wound and favors regeneration.Evaluation of the hypothesis: The technique of placing implants within cavities prepared in the root and then submerging them are simple for any practitioner placing implants routinely.

  13. Entrevista com Marie Raynal, Redatora chefe da Revista Diversité - França (Tradução. Interview with Marie Raynal, editor of Diversité - France (Translation

    Directory of Open Access Journals (Sweden)

    Abramowicz, Anete

    2009-11-01

    Full Text Available A Revista Eletrônica de Educação teve o privilégio de entrevistar Marie Raynal, que apesar de muitas atividades nos concedeu um tempo para nos responder. Marie Raynal é Responsável pelo Departamento Ville-Ecole-Intégration (Cidade-Escola-Integração em Montrouge, França e Redatora Chefe (rédactrice em chef da Revista Diversité que é um dos únicos periódicos da educação na França que acolhe artigos sobre a diversidade social. Em 2003 foi criado o departamento “Ville & Education” sob a coordenação de Marie Raynal. Este departamento tem por missão acompanhar todos os atores da educação (professores, quadros da educação, coletividades, associações, etc. que tem por encargo - durante e fora do tempo escolar - as crianças e os jovens em situação de fragilidade, especialmente aqueles que vivem nos bairros da política da cidade, àqueles que se destacam por uma educação prioritária, os recém chegados na França e as crianças nômades. No conjunto destas questões, este departamento é considerado como expert nacional. Este departamento possui três revistas e uma carta de informação, entre elas está a revista trimestral em Ciências Sociais, a Diversité.The Revista Eletrônica de Educação (Electronic Journal of Education has the privilege to interview Marie Raynal, which although having many activities, dedicated us time to answer it. Marie Raynal is head of the Département de Ville-Ecole-Intégration (Department of City-School-Integration in Montrouge, France and Chief editor of the journal Diversité, which includes articles on social diversity. In 2003, the department "Ville & Education" is created under the authority of Marie Raynal. Its mission is to accompany all education members (teachers, education managers, communities, associations, etc. that are in charge, during and after school time, children and youth in situations of fragility, including those living in neighborhood of the city policy, those

  14. Costume Cinema and Materiality Telling the Story of Marie Antoinette through Dress

    OpenAIRE

    Therése Andersson

    2011-01-01

    In ‘Costume Cinema and Materiality: Telling the Story of Marie Antoinette through Dress’ a materiality-based approach for analysing film narratives through costumes is examined. Sofia Coppola’s film Marie Antoinette (2006) serves as the empirical starting point and the theme of dressing and redressing is pursued throughout the film, crystallizing costume as a significant feature for reading the movie. The article argues that costumes, on a symbolic level, work as agents. It thus focuses on th...

  15. Autogenous Transplantation for Replacing a Hopeless Tooth.

    Science.gov (United States)

    Zakershahrak, Mehrsa; Moshari, Amirabbas; Vatanpour, Mehdi; Khalilak, Zohreh; Jalali Ara, Afsoon

    2017-01-01

    Autogenous tooth transplantation (ATT) is a simple and reasonable choice for replacing the missing teeth when a proper donor tooth is available. This report presents a case of successful ATT of a maxillary right third molar for replacement of mandibular right second molar with a concomitant endodontic-periodontal disease. The mandibular second molar was believed to be hopeless due to a severe damage to coronal tooth structure, inappropriate root canal treatment and apical radiolucency. After extraction of mandibular second molar and maxillary third molar (the donor), the tooth was re-implanted into the extracted socket of second molar site. Root canal therapy was then performed. After 3 years, clinical and radiographic examinations revealed satisfying results, with no signs and symptoms. The patient is asymptomatic and the transplanted tooth is still functional with no signs of marginal periodontal pathosis. Radiographies showed bone regeneration in the site of previous extensive periapical lesion, normal periodontal ligament with no signs of root resorption.

  16. Raamatukogu esisele kerkib kevadel Marie Underi kuju / Andres Eilart

    Index Scriptorium Estoniae

    Eilart, Andres

    2009-01-01

    Skulptor Mati Karminil ja arhitekt Tiit Trummalil valmib valgest marmorist mälestusmärk Marie Underile. Kuju püstitatakse 2010. a. kevadel Eesti Rahvusraamatukogu ette. Alale on kavandatud ka veekaskaadid

  17. 21 CFR 872.3580 - Preformed gold denture tooth.

    Science.gov (United States)

    2010-04-01

    ... tooth in a fixed or removable partial denture. (b) Classification. Class I (general controls). The... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Preformed gold denture tooth. 872.3580 Section 872...) MEDICAL DEVICES DENTAL DEVICES Prosthetic Devices § 872.3580 Preformed gold denture tooth. (a...

  18. 21 CFR 872.5525 - Preformed tooth positioner.

    Science.gov (United States)

    2010-04-01

    ...) MEDICAL DEVICES DENTAL DEVICES Therapeutic Devices § 872.5525 Preformed tooth positioner. (a) Identification. A preformed tooth positioner is a plastic device that is an impression of a perfected bite...

  19. Remineralising efficacy of tooth mousse plus (ACP CCPF) on radiated tooth

    International Nuclear Information System (INIS)

    Priya; Hegde, Mithra N.; Hegde, Nidarsh D.; Suchetha Kumari, N.; Sanjeev, Ganesh

    2016-01-01

    Dental complication is the common problem faced all over the world. Subjects with poor oral hygiene and patients undergoing radiotherapy for oral cancers are developing signs of decalcification of enamel, lesions and Caries. A well designed treatment is necessary to safeguard the tooth enamel surface before and after radiation, only then the caries on the enamel surface can be arrested by re-hardening it and ultimately converting them to the normal healthy condition. To determine the Annealing effect of radiated tooth by testing maximum micro hardness of the teeth before and after 30 days of radiation by the application of Remineralising agents. In our study, we collected 30 intact caries free human molar teeth and were sectioned mesio-distally

  20. Parameters affecting tooth loss during periodontal maintenance in a Greek population.

    Science.gov (United States)

    Tsami, Alexandra; Pepelassi, Eudoxie; Kodovazenitis, George; Komboli, Mado

    2009-09-01

    Investigators have evaluated predictive parameters of tooth loss during the maintenance phase (MP). The authors conducted a retrospective study to evaluate the rate of tooth loss and to explore the parameters that affect tooth loss during MP in a Greek population. A periodontist administered periodontal treatment and maintenance care to 280 participants with severe periodontitis for a mean period +/- standard deviation of 10.84 +/- 2.13 years. The periodontist recorded the following parameters for each participant: oral hygiene index level, simplified gingival index level, clinical attachment level, probing depth measurements, initial tooth prognosis, smoking status, tooth loss during active periodontal treatment and MP, and compliance with suggested maintenance visits. The authors found that total tooth loss during active treatment (n = 1,427) was greater than during MP (n = 918) and was associated with the initial tooth prognosis, tooth type group, participants' compliance with suggested maintenance visits, smoking status and acceptability of the quality of tooth restorations. Most of the teeth extracted during maintenance had an initial guarded prognosis (n = 612). Participants whose compliance was erratic had a greater risk of undergoing tooth extraction than did participants whose compliance was complete. Participants' initial tooth prognosis, tooth type, compliance with suggested maintenance visits and smoking status affected tooth loss during MP. Initial guarded prognosis and erratic compliance increased the risk of undergoing tooth extraction during maintenance. Determining predictive parameters for disease progression and tooth loss provides critical information to clinicians so that they can develop and implement rational treatment planning.

  1. The design and research of anti-color-noise chaos M-ary communication system

    Energy Technology Data Exchange (ETDEWEB)

    Fu, Yongqing, E-mail: fuyongqing@hrbeu.edu.cn; Li, Xingyuan; Li, Yanan [College of information and Communication Engineering, Harbin Engineering University, Harbin 150001 (China); Zhang, Lin [College of Underwater Acoustic Engineering, Harbin Engineering University, Harbin 150001 (China)

    2016-03-15

    Previously a novel chaos M-ary digital communication method based on spatiotemporal chaos Hamilton oscillator has been proposed. Without chaos synchronization circumstance, it has performance improvement in bandwidth efficiency, transmission efficiency and anti-white-noise performance compared with traditional communication method. In this paper, the channel noise influence on chaotic modulation signals and the construction problem of anti-color-noise chaotic M-ary communication system are studied. The formula of zone partition demodulator’s boundary in additive white Gaussian noise is derived, besides, the problem about how to determine the boundary of zone partition demodulator in additive color noise is deeply studied; Then an approach on constructing anti-color-noise chaos M-ary communication system is proposed, in which a pre-distortion filter is added after the chaos baseband modulator in the transmitter and whitening filter is added before zone partition demodulator in the receiver. Finally, the chaos M-ary communication system based on Hamilton oscillator is constructed and simulated in different channel noise. The result shows that the proposed method in this paper can improve the anti-color-noise performance of the whole communication system compared with the former system, and it has better anti-fading and resisting disturbance performance than Quadrature Phase Shift Keying system.

  2. The design and research of anti-color-noise chaos M-ary communication system

    International Nuclear Information System (INIS)

    Fu, Yongqing; Li, Xingyuan; Li, Yanan; Zhang, Lin

    2016-01-01

    Previously a novel chaos M-ary digital communication method based on spatiotemporal chaos Hamilton oscillator has been proposed. Without chaos synchronization circumstance, it has performance improvement in bandwidth efficiency, transmission efficiency and anti-white-noise performance compared with traditional communication method. In this paper, the channel noise influence on chaotic modulation signals and the construction problem of anti-color-noise chaotic M-ary communication system are studied. The formula of zone partition demodulator’s boundary in additive white Gaussian noise is derived, besides, the problem about how to determine the boundary of zone partition demodulator in additive color noise is deeply studied; Then an approach on constructing anti-color-noise chaos M-ary communication system is proposed, in which a pre-distortion filter is added after the chaos baseband modulator in the transmitter and whitening filter is added before zone partition demodulator in the receiver. Finally, the chaos M-ary communication system based on Hamilton oscillator is constructed and simulated in different channel noise. The result shows that the proposed method in this paper can improve the anti-color-noise performance of the whole communication system compared with the former system, and it has better anti-fading and resisting disturbance performance than Quadrature Phase Shift Keying system.

  3. HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation

    Directory of Open Access Journals (Sweden)

    Ji-Yon Kim

    2016-01-01

    Full Text Available The Charcot-Marie-Tooth disease 2F (CMT2F and distal hereditary motor neuropathy 2B (dHMN2B are caused by autosomal dominantly inherited mutations of the heat shock 27 kDa protein 1 (HSPB1 gene and there are no specific therapies available yet. Here, we assessed the potential therapeutic effect of HDAC6 inhibitors on peripheral neuropathy with HSPB1 mutation using in vitro model of motor neurons derived from induced pluripotent stem cells (iPSCs of CMT2F and dHMN2B patients. The absolute velocity of mitochondrial movements and the percentage of moving mitochondria in axons were lower both in CMT2F-motor neurons and in dHMN2B-motor neurons than those in controls, and the severity of the defective mitochondrial movement was different between the two disease models. CMT2F-motor neurons and dHMN2B-motor neurons also showed reduced α-tubulin acetylation compared with controls. The newly developed HDAC6 inhibitors, CHEMICAL X4 and CHEMICAL X9, increased acetylation of α-tubulin and reversed axonal movement defects of mitochondria in CMT2F-motor neurons and dHMN2B-motor neurons. Our results suggest that the neurons derived from patient-specific iPSCs can be used in drug screening including HDAC6 inhibitors targeting peripheral neuropathy.

  4. A look inside the nerve - Morphology of nerve fascicles in healthy controls and patients with polyneuropathy.

    Science.gov (United States)

    Grimm, Alexander; Winter, Natalie; Rattay, Tim W; Härtig, Florian; Dammeier, Nele M; Auffenberg, Eva; Koch, Marilin; Axer, Hubertus

    2017-12-01

    Polyneuropathies are increasingly analyzed by ultrasound. Summarizing, diffuse enlargement is typical in Charcot-Marie Tooth type 1 (CMT1a), regional enlargement occurs in inflammatory neuropathies. However, a distinction of subtypes is still challenging. Therefore, this study focused on fascicle size and pattern in controls and distinct neuropathies. Cross-sectional area (CSA) of the median, ulnar and peroneal nerve (MN, UN, PN) was measured at predefined landmarks in 50 healthy controls, 15 CMT1a and 13 MMN patients. Additionally, largest fascicle size and number of visible fascicles was obtained at the mid-upper arm cross-section of the MN and UN and in the popliteal fossa cross-section of the PN. Cut-off normal values for fascicle size in the MN, UN and PN were defined (50%) in all nerves (p20%), representing differential fascicle enlargement (enlarged and normal fascicles at the same location) sparing the peroneal nerve (regional fascicle enlargement). Based on these findings distinct fascicle patterns were defined. Normal values for fascicle size could be evaluated; while CMT1a features diffuse fascicle enlargement, MMN shows regional and differential predominance with enlarged fascicles as single pathology. Pattern analysis of fascicles might facilitate distinction of several otherwise similar neuropathies. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  5. Role of connexin 32 hemichannels in the release of ATP from peripheral nerves.

    Science.gov (United States)

    Nualart-Marti, Anna; del Molino, Ezequiel Mas; Grandes, Xènia; Bahima, Laia; Martin-Satué, Mireia; Puchal, Rafel; Fasciani, Ilaria; González-Nieto, Daniel; Ziganshin, Bulat; Llobet, Artur; Barrio, Luis C; Solsona, Carles

    2013-12-01

    Extracellular purines elicit strong signals in the nervous system. Adenosine-5'-triphosphate (ATP) does not spontaneously cross the plasma membrane, and nervous cells secrete ATP by exocytosis or through plasma membrane proteins such as connexin hemichannels. Using a combination of imaging, luminescence and electrophysiological techniques, we explored the possibility that Connexin 32 (Cx32), expressed in Schwann cells (SCs) myelinating the peripheral nervous system could be an important source of ATP in peripheral nerves. We triggered the release of ATP in vivo from mice sciatic nerves by electrical stimulation and from cultured SCs by high extracellular potassium concentration-evoked depolarization. No ATP was detected in the extracellular media after treatment of the sciatic nerve with Octanol or Carbenoxolone, and ATP release was significantly inhibited after silencing Cx32 from SCs cultures. We investigated the permeability of Cx32 to ATP by expressing Cx32 hemichannels in Xenopus laevis oocytes. We found that ATP release is coupled to the inward tail current generated after the activation of Cx32 hemichannels by depolarization pulses, and it is sensitive to low extracellular calcium concentrations. Moreover, we found altered ATP release in mutated Cx32 hemichannels related to the X-linked form of Charcot-Marie-Tooth disease, suggesting that purinergic-mediated signaling in peripheral nerves could underlie the physiopathology of this neuropathy. Copyright © 2013 Wiley Periodicals, Inc.

  6. The Role of Rab Proteins in Neuronal Cells and in the Trafficking of Neurotrophin Receptors

    Directory of Open Access Journals (Sweden)

    Cecilia Bucci

    2014-10-01

    Full Text Available Neurotrophins are a family of proteins that are important for neuronal development, neuronal survival and neuronal functions. Neurotrophins exert their role by binding to their receptors, the Trk family of receptor tyrosine kinases (TrkA, TrkB, and TrkC and p75NTR, a member of the tumor necrosis factor (TNF receptor superfamily. Binding of neurotrophins to receptors triggers a complex series of signal transduction events, which are able to induce neuronal differentiation but are also responsible for neuronal maintenance and neuronal functions. Rab proteins are small GTPases localized to the cytosolic surface of specific intracellular compartments and are involved in controlling vesicular transport. Rab proteins, acting as master regulators of the membrane trafficking network, play a central role in both trafficking and signaling pathways of neurotrophin receptors. Axonal transport represents the Achilles' heel of neurons, due to the long-range distance that molecules, organelles and, in particular, neurotrophin-receptor complexes have to cover. Indeed, alterations of axonal transport and, specifically, of axonal trafficking of neurotrophin receptors are responsible for several human neurodegenerative diseases, such as Huntington’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis and some forms of Charcot-Marie-Tooth disease. In this review, we will discuss the link between Rab proteins and neurotrophin receptor trafficking and their influence on downstream signaling pathways.

  7. Convergence and divergence of tumor-suppressor and proto-oncogenes in chimpanzee from human chromosome 17

    Energy Technology Data Exchange (ETDEWEB)

    Verma, R.S.; Ramesh, K.H. [Long Island College Hospital, Brooklyn, NY (United States)

    1994-09-01

    Due to the emergence of molecular technology, the phylogenetic evolution of the human genome via apes has become a saltatory even. In the present investigation, cosmid probes for P53, Charcot-Marie-Tooth [CMTIA], HER-2/NEU and myeloperoxidase [MPO] were used. Probes mapping to these genetic loci are well-defined on human chromosome 17 [HSA 17]. We localized these genes on chimpanzee [Pan troglodyte] chromosomes by FISH technique employing two different cell lines. Our results indicate that chimpanzee chromosome 19 [PTR 19] differs from HSA 17 by a pericentric inversion. The P53 gene assigned to HSA 17p13.1 is localized on PTR 19p15 and the MPO sequence of HSA 17q21.3-23 hybridized to PTR 19q23. Perplexing enough, HER-2/NEU assigned to HSA 17q11.2 localized to PTR 19p12. Obviously, there is convergence of P53 and MPO regions and distinctive divergence of HER-2/NEU and CMT1A regions of human and chimpanzee. This investigation has demonstrated the pronounced genetic shuffling which occurred during the origin of HSA 17. Molecular markers should serve as evolutionary punctuations in defining the precise sequence of genetic events that led to the evolution of other chromosomes whose genomic synteny, although similar, have surprisingly evolved through different mechanisms.

  8. The Role of Rab Proteins in Neuronal Cells and in the Trafficking of Neurotrophin Receptors

    Science.gov (United States)

    Bucci, Cecilia; Alifano, Pietro; Cogli, Laura

    2014-01-01

    Neurotrophins are a family of proteins that are important for neuronal development, neuronal survival and neuronal functions. Neurotrophins exert their role by binding to their receptors, the Trk family of receptor tyrosine kinases (TrkA, TrkB, and TrkC) and p75NTR, a member of the tumor necrosis factor (TNF) receptor superfamily. Binding of neurotrophins to receptors triggers a complex series of signal transduction events, which are able to induce neuronal differentiation but are also responsible for neuronal maintenance and neuronal functions. Rab proteins are small GTPases localized to the cytosolic surface of specific intracellular compartments and are involved in controlling vesicular transport. Rab proteins, acting as master regulators of the membrane trafficking network, play a central role in both trafficking and signaling pathways of neurotrophin receptors. Axonal transport represents the Achilles' heel of neurons, due to the long-range distance that molecules, organelles and, in particular, neurotrophin-receptor complexes have to cover. Indeed, alterations of axonal transport and, specifically, of axonal trafficking of neurotrophin receptors are responsible for several human neurodegenerative diseases, such as Huntington’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis and some forms of Charcot-Marie-Tooth disease. In this review, we will discuss the link between Rab proteins and neurotrophin receptor trafficking and their influence on downstream signaling pathways. PMID:25295627

  9. Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.

    Science.gov (United States)

    Nelles, E; Bützler, C; Jung, D; Temme, A; Gabriel, H D; Dahl, U; Traub, O; Stümpel, F; Jungermann, K; Zielasek, J; Toyka, K V; Dermietzel, R; Willecke, K

    1996-09-03

    The gap junctional protein connexin32 is expressed in hepatocytes, exocrine pancreatic cells, Schwann cells, and other cell types. We have inactivated the connexin32 gene by homologous recombination in the mouse genome and have generated homozygous connexin32-deficient mice that were viable and fertile but weighed on the average approximately 17% less than wild-type controls. Electrical stimulation of sympathetic nerves in connexin32-deficient liver triggered a 78% lower amount of glucose mobilization from glycogen stores, when compared with wild-type liver. Thus, connexin32-containing gap junctions are essential in mouse liver for maximal intercellular propagation of the noradrenaline signal from the periportal (upstream) area, where it is received from sympathetic nerve endings, to perivenous (downstream) hepatocytes. In connexin32-defective liver, the amount of connexin26 protein expressed was found to be lower than in wild-type liver, and the total area of gap junction plaques was approximately 1000-fold smaller than in wild-type liver. In contrast to patients with connexin32 defects suffering from X chromosome-linked Charcot-Marie-Tooth disease (CMTX) due to demyelination in Schwann cells of peripheral nerves, connexin32-deficient mice did not show neurological abnormalities when analyzed at 3 months of age. It is possible, however, that they may develop neurodegenerative symptoms at older age.

  10. Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine

    Science.gov (United States)

    ... Issues Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine Past Issues / Winter 2007 Table of Contents For ... Javascript on. Among those attending the NIH MedlinePlus magazine launch on Capitol Hill were (l-r) NIH ...

  11. Mari Koger : seina sisse ehitatud akvaariumiga poissmehekodu / Gitte Hint

    Index Scriptorium Estoniae

    Hint, Gitte

    2003-01-01

    80-ruutmeetrine poissmehekorter Viimsi uues elamus. Elutoa ja vannitoa vahelises seinas paikneb kahelt poolt vaadeldav akvaarium. Magamistoa üks seintest on ehitatud vanadest tellistest. Sisearhitekt Mari Koger, tema kommentaarid. Ill.: plaan, 9 värv. vaadet

  12. Rehabilitation programme for the Mary Kathleen uranium mine

    International Nuclear Information System (INIS)

    Duffield, I.R.; Ward, T.A.

    1989-01-01

    The Mary Kathleen uranium deposit was located in the North West region of the state of Queensland, Australia. It was discovered in 1954 and mined in two phases for a total of twelve years between 1958 and 1982. In October 1982 operations at the site ceased with the deposit virtually exhausted and all contractual commitments completed. From the outset, a site specific approach was adopted in developing the rehabilitation plan. Other sites'experience was evaluated but was adopted only if appropriate for Mary Kathleen. As a result of this approach a conceptual solution was established for each area within the site. Each solution was then used as the basis for detailed planning for rehabilitation of that area. The rehabilitation program commenced in mid 1982 and was completed in late 1985. Results of monitoring provided a strong basis for confidence that the objectives of the plan have been met, and allowed for the relinquishment of all the remaining mining leases in August 1987

  13. Variables affecting orthodontic tooth movement with clear aligners.

    Science.gov (United States)

    Chisari, Justin R; McGorray, Susan P; Nair, Madhu; Wheeler, Timothy T

    2014-04-01

    In this study, we examined the impacts of age, sex, root length, bone levels, and bone quality on orthodontic tooth movement. Clear aligners were programmed to move 1 central incisor 1 mm over the course of 8 weeks. Thirty subjects, ages 19 to 64, were enrolled, and measurements were made on digital models (percentage of tooth movement goal achieved). Morphometric features and bone quality were assessed with cone-beam computed tomography. Data from this study were combined with data from 2 similar studies to increase the power for some analyses. The mean percentage of tooth movement goal achieved was 57% overall. Linear regression modeling indicated a cubic relationship between age and tooth movement, with a decreasing rate of movement from ages 18 to 35 years, a slightly increasing rate from ages 35 to 50, and a decreasing rate from ages 50 to 70. The final decreasing trend was not apparent for women. As would be expected, the correlation was significant between the percentage of the goal achieved and the cone-beam computed tomography superimposed linear measures of tooth movement. A significant negative correlation was found between tooth movement and the measurement apex to the center of rotation, but bone quality, as measured by fractal dimension, was not correlated with movement. The relationship between age and tooth movement is complex and might differ for male and female patients. Limited correlations with cone-beam computed tomography morphology and rate of tooth movement were detected. Copyright © 2014 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  14. Tooth resorption in cats: contribution of vitamin D and inflammation

    NARCIS (Netherlands)

    Vrieling, H.E.

    2010-01-01

    Tooth resorption in cats Tooth resorption affecting several teeth is a painful disease with a prevalence of up to 75% in household cats and is often accompanied by periodontitis. Tooth resorption is caused by an increased number and activity of tooth-resorbing odontoclasts, cells that share

  15. Tooth fractures in canine clinical practice

    International Nuclear Information System (INIS)

    Capik, I.; Ledecky, V.; Sevcik, A.

    2001-01-01

    Tooth fractures constitute a considerable fraction of all tooth diseases. Out of the 5,370 dogs treated during four years, 492 were presented with dental problems and 28.3 % of the latter were treated for tooth fractures. Canines were the most frequently affected teeth (38.8 %), followed by premolars (33.1 %), incisors (25.9 %), and molars (2.2 %), 55.4 % of the patients with canine and incisor fractures being large breed dogs. Fractures of premolars (mostly of 108, 208) were divided evenly irrespective of breed or body size. Nonsurgical endodontic treatment yielded good therapeutic results in most cases, but repeated treatment was necessary in some patients

  16. Mariátegui e a ocidentalização da política Mariátegui and the occidentalization of politics

    Directory of Open Access Journals (Sweden)

    Ricardo Melgar Bao

    2007-05-01

    Full Text Available A contribuição de Mariátegui para pensar o socialismo na América Latina é resgatada por meio das críticas à marginalização cultural e política dos povos não-ocidentais, bem como do particular uso que deu ao marxismo, acentuando-lhe as características universais através da apropriação cultural dos diversos contextos. Palavras-chave: América Latina. Oriente. Ocidente. Marxismo. Socialismo. Civilização. Cultura. Identidade. The contribution of Mariátequi for the view of socialism in Latin America is recovered not only through the criticism of the cultural and political marginal position of the non-western people but also through the particular way he used marxism, reinforcing its universal characteristics by the cultural appropriation of different cultural contexts. Keywords: Latin America. East. West. Marxism. Socialism. Civilization. Culture. Identity.

  17. Tooth cusp sharpness as a dietary correlate in great apes.

    Science.gov (United States)

    Berthaume, Michael A

    2014-02-01

    Mammalian molars have undergone heavy scrutiny to determine correlates between morphology and diet. Here, the relationship between one aspect of occlusal morphology, tooth cusp radius of curvature (RoC), and two broad dietary categories, folivory and frugivory, is analyzed in apes. The author hypothesizes that there is a relationship between tooth cusp RoC and diet, and that folivores have sharper teeth than frugivores, and further test the correlation between tooth cusp RoC and tooth cusp size. Eight measures of tooth cusp RoC (two RoCs per cusp) were taken from 53 M(2) s from four species and subspecies of frugivorous apes (Pongo pygmaeus, Pan troglodytes troglodytes, Pan troglodytes schweinfurthii, and Gorilla gorilla gorilla) and two subspecies of folivorous apes (Gorilla beringei beringei, and Gorilla beringei graueri). Phylogenetically corrected ANOVAs were run on the full dataset and several subsets of the full dataset, revealing that, when buccolingual RoCs are taken into account, tooth cusp RoCs can successfully differentiate folivores and frugivores. PCAs revealed that folivores consistently had duller teeth than frugivores. In addition, a weak, statistically significant positive correlation exists between tooth cusp size and tooth cusp RoC. The author hypothesizes differences in tooth cusp RoC are correlated with wear rates, where, per vertical unit of wear, duller cusps will have a longer length of exposed enamel ridge than sharper cusps. More data need to be gathered to determine if the correlation between tooth cusp RoC and tooth cusp size holds true when small primates are considered. Copyright © 2013 Wiley Periodicals, Inc.

  18. 33 CFR 207.440 - St. Marys Falls Canal and Locks, Mich.; use, administration, and navigation.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false St. Marys Falls Canal and Locks... CORPS OF ENGINEERS, DEPARTMENT OF THE ARMY, DEPARTMENT OF DEFENSE NAVIGATION REGULATIONS § 207.440 St... include all of the natural waters of the St. Marys River on the U.S. side of the International Boundary...

  19. Marie Curie: In the laboratory and on the battlefield

    International Nuclear Information System (INIS)

    Badash, Lawrence

    2003-01-01

    This year is the centennial of the Nobel Prize in Physics shared by Henri Becquerel and the Curies for their pioneering work on radioactivity. But Marie Curie's contribution to the medical use of x rays is not widely known

  20. Exploring the Universe with John Milton and Mary Shelley.

    Science.gov (United States)

    Poston, David

    1989-01-01

    Presents an approach to teaching John Milton's "Paradise Lost" in conjunction with Mary Shelley's "Frankenstein." Notes that a study of these works stimulates vigorous discussions on theological and moral issues, human nature, and the cultural past and future. (MM)

  1. Reklaamid nagu kino / Jean Marie Bouriscot ; interv.Valner Valme

    Index Scriptorium Estoniae

    Bouriscot, Jean Marie

    2001-01-01

    Sakala keskuses toimus reedel 6. korda reklaamiõgijate öö, kus näidati reklaamiklippe Jean Marie Bouriscotþ kogust. Kogu omanik polnud küll seekord ise kohal, kuid vastas siiski ajakirjaniku küsimustele oma huviala kohta

  2. Life of a Tooth: A Visual Timeline

    Medline Plus

    Full Text Available ... Dentist Your Family's Oral Health About the AGD Dental care and oral health information you need from ... Menstrual Calendar for Tooth Extraction Learn what those dental words mean. The Life of a Tooth Home | ...

  3. Is gingival recession a consequence of an orthodontic tooth size and/or tooth position discrepancy? "A paradigm shift".

    Science.gov (United States)

    Richman, Colin

    2011-01-01

    Gingival recession (GR) is a commonly observed dental lesion. The underlying etiology has not been clearly identified, although several theories have been suggested. Tooth crowding or tooth malalignment is also frequently observed, with both conditions appearing to be more prevalent in developed countries with heterogeneous populations. A total of 25 consecutively treated patients representing 72 teeth and demonstrating facial clinical GR of > 3 mm were examined clinically, photographically, and with 3-dimensional radiology using conebeam computed tomography. All examined teeth presented with normal interproximal probing depths and attachment levels (teeth demonstrating > 3 mm of GR presented with significantly prominent facial tooth contours and associated alveolar bone dehiscences. Most involved teeth presented with their root structures extending beyond the facial alveolar bony housing (fenestrations). This represents a discrepancy between tooth size and alveolar bone dimensions in the buccolingual, axial, and sagittal orientation. Fewer involved teeth were malpositioned toward the buccal aspect. Both conditions were associated with facial alveolar bone dehiscences and associated GR. This study suggests tooth volume and/or tooth position within the alveolar bony housing strongly correlate with GR. All nonperiodontitis-involved teeth with GR were associated with either wider teeth or facially aligned teeth. However, it is emphasized that all facially aligned teeth, or "larger" teeth, do not necessarily present with GR. Based on these findings, the radiographic-supporting bone index is proposed. This index should facilitate appropriate evaluation of the alveolar bone supporting the mucogingival complex, both on the facial and lingual aspect of teeth. Further investigations are needed to support these preliminary data.

  4. Gastroesophageal Reflux Disease and Tooth Erosion

    Directory of Open Access Journals (Sweden)

    Sarbin Ranjitkar

    2012-01-01

    Full Text Available The increasing prevalence of gastroesophageal reflux disease (GERD in children and adults, and of “silent refluxers” in particular, increases the responsibility of dentists to be alert to this potentially severe condition when observing unexplained instances of tooth erosion. Although gastroesophageal reflux is a normal physiologic occurrence, excessive gastric and duodenal regurgitation combined with a decrease in normal protective mechanisms, including an adequate production of saliva, may result in many esophageal and extraesophageal adverse conditions. Sleep-related GERD is particularly insidious as the supine position enhances the proximal migration of gastric contents, and normal saliva production is much reduced. Gastric acid will displace saliva easily from tooth surfaces, and proteolytic pepsin will remove protective dental pellicle. Though increasing evidence of associations between GERD and tooth erosion has been shown in both animal and human studies, relatively few clinical studies have been carried out under controlled trial conditions. Suspicion of an endogenous source of acid being associated with observed tooth erosion requires medical referral and management of the patient as the primary method for its prevention and control.

  5. Tooth positioners and their effects on treatment outcome.

    Science.gov (United States)

    Pravindevaprasad, A; Therese, Beena Agnes

    2013-07-01

    Malocclusion can also be corrected by means of clear removable appliances called as "tooth positioners" or "aligners". A tooth positioner is used to control settling and to minimize or eliminate relapse of the teeth after an orthodontic treatment. In this article, a complete review of the objectives, course of treatment, fabrication, and the materials used for fabrication of tooth positioners along with their importance and disadvantages were discussed. Tooth positioners did improve the overall orthodontic treatment outcome as quantified by the ABO (American Board of orthodontics) objective scoring method. But once the initial occlusal contact was achieved, the vertical movement of teeth was found to be inhibited.

  6. Üleujutus arendaja hingel / Maris Kuuda

    Index Scriptorium Estoniae

    Kuuda, Maris

    2007-01-01

    Kohalikel omavalitsustel pole piisavalt hoobasid sundida arendajaid üleujutusohuga arvestama. Pärnusse hotelli September rajajad (arhitektid Emil Urbel, Andrus Mark) arvestavad ujutusohuga. Arvamust avaldavad Rene Reisner, Mari Sepp, Ülo Sults, Karri Tiigisoon, Indrek Rannik, Mark Soosaar, Tiiu Pärn, Merle Looring, Rita Sepp, Kaspar Alles. Keskkonnaministeeriumi plaanist muuta veeseadust, mis sunniks ehitajaid ja arendajaid arvestama üleujutusohuga. Lisadena olulise üleujutusohuga alad Eestis ning üleujutuste ohjamist käsitleva Euroopa Liidu direktiivi eelnõust

  7. Tooth-marked small theropod bone: an extremely rare trace

    DEFF Research Database (Denmark)

    Jacobsen, Aase Roland

    2001-01-01

    Tooth-marked dinosaur bones provide insight into feeding behaviours and biting strategies of theropod dinosaurs. The majority of theropod tooth marks reported to date have been found on herbivorous dinosaur bones, although some tyrannosaurid bones with tooth marks have also been reported. In 1988...

  8. Association between Severity of Tooth Wear and Dentinal Hypersensitivity

    Directory of Open Access Journals (Sweden)

    Ashok Ayer

    2016-11-01

    Full Text Available Background & Objectives: Tooth wear (attrition, abrasion, erosion, and abfraction is perceived globally as ever increasing problem. Several outcome of the tooth wear are hypersensitivity, esthetic problems, functional impairment, annoyance to the patient, and fracture of the tooth. Among these, the measurable and more commonly reported outcome is hypersensitivity to stimuli. Although dentin hypersensitivity is a common clinical condition and is generally reported by the patient after experiencing a sharp, short pain caused by one of the several different external stimuli, it is often inadequately understood. None of the scientific literature available till date attempted to establish the relationship between tooth wear and dentin hypersensitivity which could be a key factor in monitoring those patients.  The aim of the study was to estimate the association between severity of teeth wear and sensitivity in the patients with reported dentinal hypersensitivity.Materials & Methods: Fifty patients with dentin hypersensitivity were investigated for tooth wear. Tooth wear measured using exact tooth wear index and level of sensitivity to stimuli was recorded using a numerical rating scale. Results: Enamel wear at cervical region of teeth showed a positive correlation (p=.010, similarly, dentin wear at cervical region of teeth showed positive correlation and significant association (p<.001 with dentinal hypersensitivity.Conclusion: The observation supports a significant association between severities of tooth surface wear and dentinal hypersensitivity.

  9. Orientation and deformation of mineral crystals in tooth surfaces.

    Science.gov (United States)

    Fujisaki, Kazuhiro; Todoh, Masahiro; Niida, Atsushi; Shibuya, Ryota; Kitami, Shunsuke; Tadano, Shigeru

    2012-06-01

    Tooth enamel is the hardest material in the human body, and it is mainly composed of hydroxyapatite (HAp)-like mineral particles. As HAp has a hexagonal crystal structure, X-ray diffraction methods can be used to analyze the crystal structure of HAp in teeth. Here, the X-ray diffraction method was applied to the surface of tooth enamel to measure the orientation and strain of the HAp crystals. The c-axis of the hexagonal crystal structure of HAp was oriented to the surface perpendicular to the tooth enamel covering the tooth surface. Thus, the strain of HAp at the surface of teeth was measured by X-ray diffraction from the (004) lattice planes aligned along the c-axis. The X-ray strain measurements were conducted on tooth specimens with intact surfaces under loading. Highly accurate strain measurements of the surface of tooth specimens were performed by precise positioning of the X-ray irradiation area during loading. The strains of the (004) lattice plane were measured at several positions on the surface of the specimens under compression along the tooth axis. The strains were obtained as tensile strains at the labial side of incisor tooth specimens. In posterior teeth, the strains were different at different measurement positions, varying from tensile to compressive types. Copyright © 2012 Elsevier Ltd. All rights reserved.

  10. Life of a Tooth: A Visual Timeline

    Medline Plus

    Full Text Available ... Child First See a Dentist? The History of Dental Advances Why is Oral Health Important for Men? What is Baby Bottle Tooth Decay? Learn what those dental words mean. The Life of a Tooth Home | ...

  11. Inhibitory effect of interferon-γ on experimental tooth movement in mice.

    Science.gov (United States)

    Kohara, Haruka; Kitaura, Hideki; Yoshimatsu, Masako; Fujimura, Yuji; Morita, Yukiko; Eguchi, Toshiko; Yoshida, Noriaki

    2012-09-01

    The aim of this study was to investigate the effects of interferon (IFN)-γ on experimental tooth movement in mice using a murine experimental tooth movement model. An Ni-Ti closed-coil spring was inserted between the upper-anterior alveolar bones and the upper-left first molars in mice. We evaluated the relationship between local Ifn-γ mRNA levels and orthodontic tooth movement. In other experiments, IFN-γ was injected adjacent to each first molar every other day during tooth movement. After 12 days, the amount of tooth movement was measured. Tartrate-resistant acid phosphatase (TRAP)-positive cells at the pressure side of each experimental tooth were counted as osteoclasts. Local Ifn-γ mRNA expression increased with orthodontic tooth movement. The number of TRAP-positive cells increased on the pressure side of the first molar. In contrast, the degree of tooth movement and the number of TRAP-positive cells on the pressure side in IFN-γ-injected mice were less than those of control mice. IFN-γ was induced in experimental tooth movement, and could inhibit mechanical force-loaded osteoclastogenesis and tooth movement. These results suggest that IFN-γ might be useful in controlling orthodontic tooth movement because of its inhibitory action on excessive osteoclastogenesis during this movement.

  12. Tooth bleaching and young adults in Nigeria: knowledge, experiences and intention.

    Science.gov (United States)

    Azodo, C C; Ogbomo, A C; Agbor, M A

    2012-12-01

    To assess the knowledge, experiences and intention to have tooth bleaching among young adults studying in a Nigerian University. A cross-section of part-time undergraduate students of University of Benin, Benin City, Nigeria were studied in 2010 using a self-administered questionnaire. About three-quarters 289 (72.4%) of the respondents reported awareness of at least one cause of tooth discoloration. A total of 143 (35.8%) of the respondents have heard of tooth bleaching with main sources of information being friends/relatives, dentists and the internet. One-third 132 (33.1%) of the respondents correctly identified that the aim of tooth bleaching was to make the teeth whiter. The respondents that had correct knowledge about mechanism, duration and complications of tooth bleaching were 51 (12.8%), 25 (6.3%) and 35 (8.8%) respectively. The major perceived benefits of tooth bleaching reported by the respondents were self confidence boost 152 (38.1%) and improvement of one's beauty 107 (26.8%). Out of the 68 (17.0%) respondents that have attempted tooth bleaching, 36 (52.9%) used tooth whitening toothpaste. Out of the 151 (37.8%) respondents that expressed intention of having tooth bleaching procedure, 32 (21.2%) would pursue the course, no matter the cost. In the studied population, knowledge of tooth discoloration was high, awareness and experiences of tooth bleaching were low but significant number expressed intention of having tooth bleaching. It is important that dentists increase oral health information particularly tooth bleaching information accessibility to the young adult population to improve the knowledge and prevent adverse effects.

  13. Need sinihallid veised... : Marie Under ja Villem Ridala / Ruth Mirov

    Index Scriptorium Estoniae

    Mirov, Ruth, 1928-

    2008-01-01

    Vaadeldakse kahte ühest ja samast muistendist - merest tõusnud lehmakarjast - inspireeritud ballaadi: Marie Underi "Merilehmi" (ilm. kogus "Õnnevarjutus", 1929) ja Villem Ridala "Sinist karja" (ilm. kogus "Sinine kari", 1930)

  14. Tooth Decay Process: How to Reverse It and Avoid a Cavity

    Science.gov (United States)

    ... Health Info Health Topics Tooth Decay Tooth decay (dental caries) is damage to a tooth that can happen ... Clinical Trials Show All Clinical Trials Data & Statistics Dental caries (tooth decay) remains the most prevalent chronic disease ...

  15. Tooth polishing: The current status

    Directory of Open Access Journals (Sweden)

    Madhuri Alankar Sawai

    2015-01-01

    Full Text Available Healthy teeth and gums make a person feel confident and fit. As people go about their daily routines and with different eating and drinking habits, the tooth enamel turns yellowish or gets stained. Polishing traditionally has been associated with the prophylaxis procedure in most dental practices, which patients know and expect. However, with overzealous use of polishing procedure, there is wearing of the superficial tooth structure. This would lead to more accumulation of local deposits. Also, it takes a long time for the formation of the fluoride-rich layer of the tooth again. Hence, now-a-days, polishing is not advised as a part of routine oral prophylaxis procedure but is done selectively based on the patients′ need. The article here, gives an insight on the different aspects of the polishing process along with the different methods and agents used for the same.

  16. Ooperi valem : Mari Vihmandi "Armastuse valem" / Evi Arujärv

    Index Scriptorium Estoniae

    Arujärv, Evi, 1953-

    2009-01-01

    Argentiina kirjaniku Esther Vilari romaani "Nina Glucksteini matemaatika" ainetel valminud Mari Vihmandi ooperist "Armastuse valem", libreto Maimu Berg, lavastaja Liis Kolle, tantsu- ja liikumisseaded Ana Mondini. Esietendus 17. oktoobril 2008 Rahvusooperis Estonia

  17. Cracked tooth syndrome: A report of three cases.

    Science.gov (United States)

    Sadasiva, Kadandale; Ramalingam, Sathishmuthukumar; Rajaram, Krishnaraj; Meiyappan, Alagappan

    2015-08-01

    Cracked tooth syndrome (CTS), the term was coined by Cameron in 1964, which refers to an incomplete fracture of a vital posterior tooth extending to the dentin and occasionally into the pulp. CTS has always been a nightmare to the patient because of its unpredictable symptoms and a diagnostic dilemma for the dental practitioner due to its variable, bizarre clinical presentation. The treatment planning and management of CTS has also given problems and challenges the dentist as there is no specific treatment option. The management of CTS varies from one case to another or from one tooth to another in the same individual based on the severity of the symptoms and depth of tooth structure involved. After all, the prognosis of such tooth is still questionable and requires continuous evaluation. This article aims at presenting a series three cases of CTS with an overview on the clinical presentation, diagnosis and the different treatment options that varies from one case to another.

  18. Marie Stopes International Child Spacing Clinics in Malawi

    African Journals Online (AJOL)

    programme, male involvement has the following basic aspects: Initiation of dialogue on child spacing within the ... that men feel that child spacing is also their concern and service providers feel men are not outsiders. ... pioneering work of Marie Stopes in caring for women in the poor communities of London by extending the ...

  19. Revisiting Mary Daly: Towards a quadripartite theological and philosophical paradigm

    Directory of Open Access Journals (Sweden)

    Hannelie Wood

    2015-06-01

    Full Text Available I was a tenderfoot in feminist discourse when I started my research on patriarchy, feminism, and Mary Daly. In my thesis, one aspect I engaged was Daly’s battle with gender issues in Christian theology. From the beginning I was troubled by Mary Daly’s views on God, men, and women in her discourse on Christianity. Daly undoubtedly contributed to the discussion on gender issues in the Christian faith, but her focus on androcentrism and her interpretations of Scripture led her to abandon the Christian faith. Mary Daly has written extensively on patriarchy as it is found in religion – particularly in the Christian faith – and how it filters through society. In her critique of patriarchy she set her course to dismantle the facade of a patriarchal and misogynistic God as the root of patriarchy. Daly did not see any positive qualities of the Christian faith and completely rejected other interpretations of a God whose person embraces both male and female qualities. Against this background I will evaluate Daly’s post-Christian feminist theological and philosophical paradigm. I propose that Daly has a quadripartite theological and philosophical paradigm wherein there are four main players. The ‘Who is who’ in Daly’s quadripartite patriarchal theological and philosophical paradigm are the patriarchal male, the patriarchal female, the patriarchal God and the biophilic woman.

  20. Varanoid Tooth Eruption and Implantation Modes in a Late Cretaceous Mosasaur.

    Science.gov (United States)

    Liu, Min; Reed, David A; Cecchini, Giancarlo M; Lu, Xuanyu; Ganjawalla, Karan; Gonzales, Carol S; Monahan, Richard; Luan, Xianghong; Diekwisch, Thomas G H

    2016-01-01

    Erupting teeth are some of the oldest witnesses of developmental processes in the vertebrate fossil record and provide an important resource for vertebrate cladistics. Here, we have examined a mosasaur jaw fragment from central Texas using ultrathin ground section histology and 3D tomographic imaging to assess features critical for the cladistic placement of mosasaurs among varanoids vs. snakes: (i) the orientation of replacement teeth compared to the major tooth axis, (ii) the occurrence of resorption pits, and (iii) the mode of tooth implantation/attachment to the tooth bearing element (TBE). The replacement tooth studied here developed in an inclined position slightly distal of the deciduous parent tooth, similar to another varanoid squamate, the Gila monster Heloderma suspectum. Ground sections and tomographs also demonstrated that the replacement tooth attachment apparatus was entirely intact and that there was no evidence of mechanical deformation. Sections and tomographs further illustrated that the replacement tooth was located within a bony crypt and the inclination of the crypt matched the inclination of the replacement tooth. These preparations also revealed the presence of a resorption pit within the boundaries of the deciduous tooth that surrounded the developing replacement tooth. This finding suggests that developing mosasaur teeth developed within the walls of resorption pits similar to varanoid tooth germs and unlike developing snake teeth which are surrounded by fibrous connective tissue integuments. Finally, mosasaurs featured pseudo-thecodont tooth implantation with teeth anchored within a socket of mineralized tissue by means of a mineralized periodontal ligament. Together, these data indicate that the moderate inclination of the erupting mosasaur tooth studied here is neither a result of postmortem displacement nor a character representative of snakes, but rather a shared character between Mosasaurs and other varanoids such as Heloderma. In

  1. Varanoid Tooth Eruption and Implantation Modes in a Late Cretaceous Mosasaur

    Directory of Open Access Journals (Sweden)

    Min eLiu

    2016-05-01

    Full Text Available Erupting teeth are some of the oldest witnesses of developmental processes in the vertebrate fossil record and provide an important resource for vertebrate cladistics. Here we have examined a mosasaur jaw fragment from central Texas using ultrathin ground section histology and 3D tomographic imaging to assess features critical for the cladistic placement of mosasaurs among varanoids versus snakes: (i the orientation of replacement teeth compared to the major tooth axis, (ii the occurrence of resorption pits, and (iii the mode of tooth implantation/attachment to the tooth bearing element. The replacement tooth studied here developed in an inclined position slightly distal of the deciduous parent tooth, similar to another varanoid squamate, the Gila monster Heloderma suspectum. Ground sections and tomographs also demonstrated that the replacement tooth attachment apparatus was entirely intact and that there was no evidence of mechanical deformation. Sections and tomographs further illustrated that the replacement tooth was located within a bony crypt and the inclination of the crypt matched the inclination of the replacement tooth. These preparations also revealed the presence of a resorption pit within the boundaries of the deciduous tooth that surrounded the developing replacement tooth. This finding suggests that developing mosasaur teeth developed within the walls of resorption pits similar to varanoid tooth germs and unlike developing snake teeth which are surrounded by fibrous connective tissue integuments. Finally, mosasaurs featured pseudo-thecodont tooth implantation with teeth anchored within a socket of mineralized tissue by means of a mineralized periodontal ligament. Together, these data indicate that the moderate inclination of the erupting mosasaur tooth studied here is neither a result of postmortem displacement nor a character representative of snakes, but rather a shared character between Mosasaurs and other varanoids such as

  2. Eesti animafilm külvab uusi seemneid / Mari-Liis Rebane

    Index Scriptorium Estoniae

    Rebane, Mari-Liis

    2009-01-01

    PÖFFi alafestivalil Animated Dreams linastunud neljast uuest filmist: Olga ja Priit Pärna "Tuukrid vihmas", Kaspar Jancise "Krokodill", Martinus Daane Klemeti "Õhus" ja Girlin Bassovskaja (Jelena Girlin, Mari-Liis Bassovskaja) "Oranus"

  3. Factors associated with tooth loss and prosthodontic status among Sudanese adults.

    Science.gov (United States)

    Khalifa, Nadia; Allen, Patrick F; Abu-bakr, Neamat H; Abdel-Rahman, Manar E

    2012-01-01

    A study was conducted to determine the degree of tooth loss, factors influencing tooth loss, and the extent of prosthodontic rehabilitation in Sudanese adults (≥ 16 years old) attending outpatient clinics in Khartoum State. Pearson and multivariate analyses were used to examine the relationships between tooth loss and specific characteristics determined through interviews and clinical examinations. The mean number of missing teeth was 3.6 (SD, 4.9) and the prevalence of edentulism was 0.1%. The prevalence of tooth loss (missing at least one tooth) was 78%; 66.9% of tooth loss was due to caries, and 11.2% was attributable to other reasons. Prosthetic replacement of missing teeth was evident in 3%, whereas a need for prosthetic replacement was evident in 57%. Having teeth was associated with age, gender, and socioeconomic status; tooth loss due to caries was associated with age, tribe, frequency of tooth-brushing, and a low rate of dental consultation. Tooth loss due to other reasons was associated with age, tribe, education, periodontal pocketing, tobacco use, tooth wear, and prosthetic status. The results of the present study indicated that the major cause of tooth loss was dental caries, thus emphasizing the importance of a public prevention-based healthcare program. Replacement of missing teeth was uncommon in the study subjects, which may reflect lack of access to this type of oral healthcare.

  4. Contaminated tooth brushes-potential threat to oral and general health

    Directory of Open Access Journals (Sweden)

    Rashmi Naik

    2015-01-01

    Full Text Available Background: Tooth brushing is most common method of maintaining oral hygiene. In removing plaque and other soft debris from the teeth, tooth brushes become contaminated with bacteria, blood, saliva and oral debris. These contaminated tooth brushes can be a source of infection. Aims and objectives: The aim of the present study was to evaluate the presence of microorganisms in the tooth brushes and to investigate the effect of disinfectants such as chlorhexidine gluconate, sodium hypochlorite and water to decontaminate them. Materials and Methods: Twenty-one children were asked to brush their teeth for 5 days with a tooth brush. The tooth brushes were put in Robertson′s Cooked Meat broth and were observed for growth of Streptococcal microorganisms. These tooth brushes were then placed in disinfectants such as 0.2% chlorhexidine gluconate (Group I, 1% sodium hypochlorite (Group II and water (Group III for 24 hrs and then cultured again. Reduction of growth of microorganisms was seen in Group I, Group II and remnants of growth seen in Group III. Conclusion: We conclude that the use of disinfectant for a tooth brush is a must for every individual at least at regular intervals.

  5. Tooth development in Ambystoma mexicanum: phosphatase activities, calcium accumulation and cell proliferation in the tooth-forming tissues.

    Science.gov (United States)

    Wistuba, Joachim; Ehmcke, Jens; Clemen, Günter

    2003-06-01

    Prerequisites of tooth formation, cell proliferation in the tooth-forming tissues, calcium accumulation and the enzymatic activities of alkaline (ALP) and acid phosphatases (ACP) were investigated by immunohistochemical and histochemical methods in various developmental stages of the Mexican Axolotl, Ambystoma mexicanum. During the growth of replacement teeth, the tooth-forming tissues continually recruit cells from the surrounding regions. The basal layer of the oral epithelium, the dental lamina and sometimes even the outer enamel epithelium provide cells for the differentiated inner enamel epithelium, in which the active ameloblasts are localized. The differentiating odontoblasts are derived from proliferating cells situated basally to the replacement teeth in the mesenchymal tissue. When differentiation has started and the cells have become functional, proliferative activity can no longer be observed. Calcium is accumulated close to the site of mineralization in the inner enamel epithelium and in the odontoblasts as it is in mammals, elasmobranchii and teleostei. The activities of ACP and ALP related to the mineralization of the replacement teeth are separated spatially and not sequentially as they are in mammals. However, the results indicate a similar function of these enzymatic components in relation to tooth formation and maturation of mineral deposition. Most of the substantial processes related to tooth formation reported from other vertebrates occur in a manner similar to that in Ambystoma mexicanum, but there also seem to be basic mechanisms present that are realised in a unique way in this urodele.

  6. Effect of Melamine Sponge on Tooth Stain Removal.

    Science.gov (United States)

    Otsuka, Takero; Kawata, Toshitsugu

    2015-01-01

    To investigate the stain removal ability of melamine sponge before aesthetic tooth whitening in extracted teeth. Melamine sponge of thickness 40 mm was compressed and the destruction of the partition wall structure during the compression process was examined under a stereoscopic microscope. An extracted human tooth was cleaned by normal polishing or with melamine sponge for 90 s. To evaluate the stain level, the tooth surfaces were photographed under a stereoscopic microscope at 0, 30, 60 and 90 s. The residual stained region was traced in a high-magnification photograph, and the stain intensity was presented as a change, relative to the intensity before the experiment (0 s). Mechanical cleaning by toothbrushing produced polishing scratches on the tooth surface, whereas use of the melamine sponge resulted in only minimal scratches. As the compression level increased, the stain-removing effect tended to become stronger. Melamine sponge can remove stains from the tooth surface more effectively and less invasively compared to a conventional toothbrush. As no new scratches are made on the tooth surface when using a melamine sponge brush, the risk of re-staining is reduced. Cleaning using a melamine sponge brush can be easily and effectively performed at home and in a dental office.

  7. An automatic tooth preparation technique: A preliminary study

    Science.gov (United States)

    Yuan, Fusong; Wang, Yong; Zhang, Yaopeng; Sun, Yuchun; Wang, Dangxiao; Lyu, Peijun

    2016-04-01

    The aim of this study is to validate the feasibility and accuracy of a new automatic tooth preparation technique in dental healthcare. An automatic tooth preparation robotic device with three-dimensional motion planning software was developed, which controlled an ultra-short pulse laser (USPL) beam (wavelength 1,064 nm, pulse width 15 ps, output power 30 W, and repeat frequency rate 100 kHz) to complete the tooth preparation process. A total of 15 freshly extracted human intact first molars were collected and fixed into a phantom head, and the target preparation shapes of these molars were designed using customised computer-aided design (CAD) software. The accuracy of tooth preparation was evaluated using the Geomagic Studio and Imageware software, and the preparing time of each tooth was recorded. Compared with the target preparation shape, the average shape error of the 15 prepared molars was 0.05-0.17 mm, the preparation depth error of the occlusal surface was approximately 0.097 mm, and the error of the convergence angle was approximately 1.0°. The average preparation time was 17 minutes. These results validated the accuracy and feasibility of the automatic tooth preparation technique.

  8. Periodontal profile classes predict periodontal disease progression and tooth loss.

    Science.gov (United States)

    Morelli, Thiago; Moss, Kevin L; Preisser, John S; Beck, James D; Divaris, Kimon; Wu, Di; Offenbacher, Steven

    2018-02-01

    Current periodontal disease taxonomies have limited utility for predicting disease progression and tooth loss; in fact, tooth loss itself can undermine precise person-level periodontal disease classifications. To overcome this limitation, the current group recently introduced a novel patient stratification system using latent class analyses of clinical parameters, including patterns of missing teeth. This investigation sought to determine the clinical utility of the Periodontal Profile Classes and Tooth Profile Classes (PPC/TPC) taxonomy for risk assessment, specifically for predicting periodontal disease progression and incident tooth loss. The analytic sample comprised 4,682 adult participants of two prospective cohort studies (Dental Atherosclerosis Risk in Communities Study and Piedmont Dental Study) with information on periodontal disease progression and incident tooth loss. The PPC/TPC taxonomy includes seven distinct PPCs (person-level disease pattern and severity) and seven TPCs (tooth-level disease). Logistic regression modeling was used to estimate relative risks (RR) and 95% confidence intervals (CI) for the association of these latent classes with disease progression and incident tooth loss, adjusting for examination center, race, sex, age, diabetes, and smoking. To obtain personalized outcome propensities, risk estimates associated with each participant's PPC and TPC were combined into person-level composite risk scores (Index of Periodontal Risk [IPR]). Individuals in two PPCs (PPC-G: Severe Disease and PPC-D: Tooth Loss) had the highest tooth loss risk (RR = 3.6; 95% CI = 2.6 to 5.0 and RR = 3.8; 95% CI = 2.9 to 5.1, respectively). PPC-G also had the highest risk for periodontitis progression (RR = 5.7; 95% CI = 2.2 to 14.7). Personalized IPR scores were positively associated with both periodontitis progression and tooth loss. These findings, upon additional validation, suggest that the periodontal/tooth profile classes and the derived

  9. Deployment of Autonomous GPS Stations in Marie Byrd Land, Antartica

    Science.gov (United States)

    Donnellan, A.; Luyendyk, B.; Smith, M.; Dace, G.

    1999-01-01

    During the 1998-1999 Antarctic field season, we installed three autonomous GPS stations in Marie Byrd Land, West Antarctica to measure glacio-isostatic rebound and rates of spreading across the West Antartic Rift System.

  10. Safety issues of tooth whitening using peroxide-based materials.

    Science.gov (United States)

    Li, Y; Greenwall, L

    2013-07-01

    In-office tooth whitening using hydrogen peroxide (H₂O₂) has been practised in dentistry without significant safety concerns for more than a century. While few disputes exist regarding the efficacy of peroxide-based at-home whitening since its first introduction in 1989, its safety has been the cause of controversy and concern. This article reviews and discusses safety issues of tooth whitening using peroxide-based materials, including biological properties and toxicology of H₂O₂, use of chlorine dioxide, safety studies on tooth whitening, and clinical considerations of its use. Data accumulated during the last two decades demonstrate that, when used properly, peroxide-based tooth whitening is safe and effective. The most commonly seen side effects are tooth sensitivity and gingival irritation, which are usually mild to moderate and transient. So far there is no evidence of significant health risks associated with tooth whitening; however, potential adverse effects can occur with inappropriate application, abuse, or the use of inappropriate whitening products. With the knowledge on peroxide-based whitening materials and the recognition of potential adverse effects associated with the procedure, dental professionals are able to formulate an effective and safe tooth whitening regimen for individual patients to achieve maximal benefits while minimising potential risks.

  11. Effect of light energy on peroxide tooth bleaching.

    Science.gov (United States)

    Luk, Karen; Tam, Laura; Hubert, Manfred

    2004-02-01

    Light-activated bleaching is a method of tooth whitening. The authors conducted a study to compare the whitening effects and tooth temperature changes induced by various combinations of peroxide bleaches and light sources. The authors randomly assigned 250 extracted human teeth halves into experimental groups (n = 10). A placebo gel (control), a 35 percent hydrogen peroxide or a 10 percent carbamide peroxide bleach was placed on the tooth surface and was irradiated with no light (control); a halogen curing light; an infrared, or IR, light; an argon laser; or a carbon dioxide, or CO2, laser. Color changes were evaluated immediately, one day and one week after treatment using a value-oriented shade guide and an electronic dental color analyzer. The outer enamel and inner dentin surface temperatures were monitored before and immediately after each 30-second application of light using a thermocouple thermometer. Color and temperature changes were significantly affected by an interaction of the bleach and light variables. The application of lights significantly improved the whitening efficacy of some bleach materials, but it caused significant temperature increases in the outer and inner tooth surfaces. The IR and CO2 laser lights caused the highest tooth temperature increases. Dentists performing an in-office bleaching technique with the use of an additional light source to accelerate tooth whitening should consider the specific bleaching agent being used, as well as the potential risks of heating teeth. A specific combination of bleach and light that demonstrates good color change and little temperature rise should be selected for in-office tooth bleaching.

  12. Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette.

    Science.gov (United States)

    Jehaes, E; Decorte, R; Peneau, A; Petrie, J H; Boiry, P A; Gilissen, A; Moisan, J P; Van den Berghe, H; Pascal, O; Cassiman, J J

    1998-01-01

    Carl Wilhelm Naundorff was buried in 1845 in Delft as Louis Charles, Duc de Normandie, 'Louis XVII'. However, the son of Louis XVI and Marie-Antoinette-Louis XVII--officially died in the Temple of Paris in 1795. In order to resolve the identity of Naundorff, mitochondrial DNA (mtDNA) D-loop sequences of his remains were compared with the sequences obtained from the hairs of two sisters of Marie-Antoinette, Marie-Antoinette herself, and with the sequences obtained from DNA samples of two living maternal relatives. The mtDNA sequence of a bone sample from Naundorff showed two nucleotide differences from the sequences of the three sisters and four differences from the sequences of living maternal relatives. Based on this evidence it becomes very unlikely that Naundroff is the son of Marie-Antoinette.

  13. Advances and perspectives in tooth tissue engineering.

    Science.gov (United States)

    Monteiro, Nelson; Yelick, Pamela C

    2017-09-01

    Bio-engineered teeth that can grow and remodel in a manner similar to that of natural teeth have the potential to serve as permanent replacements to the currently used prosthetic teeth, such as dental implants. A major challenge in designing functional bio-engineered teeth is to mimic both the structural and anisotropic mechanical characteristics of the native tooth. Therefore, the field of dental and whole tooth regeneration has advanced towards the molecular and nanoscale design of bio-active, biomimetic systems, using biomaterials, drug delivery systems and stem cells. The focus of this review is to discuss recent advances in tooth tissue engineering, using biomimetic scaffolds that provide proper architectural cues, exhibit the capacity to support dental stem cell proliferation and differentiation and sequester and release bio-active agents, such as growth factors and nucleic acids, in a spatiotemporal controlled manner. Although many in vitro and in vivo studies on tooth regeneration appear promising, before tooth tissue engineering becomes a reality for humans, additional research is needed to perfect methods that use adult human dental stem cells, as opposed to embryonic dental stem cells, and to devise the means to generate bio-engineered teeth of predetermined size and shape. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  14. 2017-2018 Travel Expense Reports for Mary Anne Chambers ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Chantal Taylor

    Ottawa. Airfare: $368.41. Other. Transportation: $69.95. Accommodation: $542.79. Meals and. Incidentals: $164.42. Other: $0.00. Total: $1,145.57. Comments: From residence in Thornhill, Ontario. 2017-2018 Travel Expense Reports for Mary. Anne Chambers, Governor, Chairperson of the. Human Resources Committee.

  15. 2017-2018 Travel Expense Reports for Mary Anne Chambers ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Chantal Taylor

    Ottawa. Airfare: $563.72. Other. Transportation: $74.26. Accommodation: $0.00. Meals and. Incidentals: $46.17. Other: $30.00. Total: $714.15. Comments: From residence in Thornhill, Ontario. 2017-2018 Travel Expense Reports for Mary. Anne Chambers, Governor, Chairperson of the. Human Resources Committee.

  16. Two wives in science service: Marie Curie and Irene Joliot-Curie

    International Nuclear Information System (INIS)

    Bordry, M.

    1996-01-01

    This paper relates the life and the scientific works of Marie Curie and of her daughter Irene Joliot-Curie in their historical context. Several details are given about their laboratory works, their relations with students, the creation of the Radium Institute and the role they played during the two world wars. The progress of their works towards their main scientific discoveries (polonium, radium, artificial radioactivity, transuranium compounds etc..) is illustrated with some extracts of their personal correspondence with relatives. The paper evokes also the Nobel prices received by Pierre and Marie Curie and by Irene and Frederic Joliot and the creation of the CEA by Frederic Joliot in 1946. (J.S.). 6 photos

  17. Anneli Remme soovitab : Kuninganna Mary elu ja surm / Anneli Remme

    Index Scriptorium Estoniae

    Remme, Anneli, 1968-

    2002-01-01

    Kontserdisarja "Hingemuusika" teist kontserti raamivad Henry Purcelli teosed, millest esimene on loodud kuninganna Mary sünnipäevaks, viimane matusetseremooniaks. Barokkansambli Corelli Consort esituses 26., 27., ja 28. apr. Viljandi, Tartu ja Tallinna kirikutes

  18. Autotransplantation donor tooth site harvesting using piezosurgery.

    Science.gov (United States)

    Ylikontiola, Leena P; Sándor, George K

    2016-01-01

    The harvesting of a tooth as a candidate for tooth autotransplantation requires that the delicate dental tissues around the tooth be minimally traumatized. This is especially so for the periradicular tissues of the tooth root and the follicular tissues surrounding the crown. The aim of this report is to describe the use of piezosurgery as an attempt at morbidity reduction in the harvesting of teeth for autotransplantation. A piezosurgical handpiece and its selection of tips were easily adapted to allow the harvesting and delivery of teeth for autotransplantation purposes. Twenty premolar teeth were harvested using a piezosurgical device. The harvested teeth were subsequently successfully autotransplanted. All twenty teeth healed in a satisfactory manner without excessive mobility or ankyloses. Piezosurgery avoids some of the traumatic aspects of harvesting teeth and removing bone which are associated with thermal damage from the use of conventional rotary instruments or saws. Piezosurgery can be adapted to facilitate the predictable harvesting of teeth for autotransplantation purposes.

  19. Mary's Story: A Curriculum for Teaching Medical Terminology.

    Science.gov (United States)

    Pennsylvania State Univ., University Park. Inst. for the Study of Adult Literacy.

    This packet of materials for a class on medical terminology consists of a collection of stories with highlighted vocabulary, teacher's guide, and student's guide. The materials teach medical terms in a series of stories about a woman named Mary Consola. Each story begins with a list of word parts that will be learned; after the story, new word…

  20. Innovative Design and Performance Evaluation of Bionic Imprinting Toothed Wheel.

    Science.gov (United States)

    Zhang, Zhihong; Wang, Xiaoyang; Tong, Jin; Stephen, Carr

    2018-01-01

    A highly efficient soil-burrowing dung beetle possesses an intricate outer contour curve on its foreleg end-tooth. This study was carried out based on evidence that this special outer contour curve has the potential of reducing soil penetration resistance and could enhance soil-burrowing efficiency. A toothed wheel is a typical agricultural implement for soil imprinting, to increase its working efficiency; the approach of the bionic geometrical structure was utilized to optimize the innovative shape of imprinting toothed wheel. Characteristics in the dung beetle's foreleg end-tooth were extracted and studied by the edge detection technique. Then, this special outer contour curve was modeled by a nine-order polynomial function and used for the innovative design of imprinting the tooth's cutting edge. Both the conventional and bionic teeth were manufactured, and traction tests in a soil bin were conducted. Taking required draft force and volume of imprinted microbasin as the evaluating indexes, operating efficiency and quality of different toothed wheels were compared and investigated. Results indicate that compared with the conventional toothed wheel, a bionic toothed wheel possesses a better forward resistance reduction property against soil and, meanwhile, can enhance the quality of soil imprinting by increasing the volume of the created micro-basin.

  1. Tooth brushing among 11- to 15-year-olds in Denmark

    DEFF Research Database (Denmark)

    Bast, L. S.; Holstein, B. E.; Nordahl, Helene

    2015-01-01

    brushing. Results: 10,607 respondents: a response rate of 88.3%. Boys of lower social class had higher odds ratio (OR) of infrequent tooth brushing than girls: 1.98 (95% confidence interval 1.62-2.41) vs 1.80 (1.53-2.24). Immigrants and descendants had higher odds compared to adolescents of Danish origin......Objective: Regular tooth brushing in adolescence predicts stable tooth brushing habits later in life. Differences in tooth brushing habits by ethnic background and socioeconomic position have been suggested. We investigated migration status and social class in relation to infrequent tooth brushing...... both separately and combined. Methods: The study population was 11-15 year-olds chosen from a clustered random sample of schools. Univariate and multivariate logistic regression analyses estimated the separate and combined effects of migration status and social class on less than twice daily tooth...

  2. Stem cells for tooth engineering

    Directory of Open Access Journals (Sweden)

    G Bluteau

    2008-07-01

    Full Text Available Tooth development results from sequential and reciprocal interactions between the oral epithelium and the underlying neural crest-derived mesenchyme. The generation of dental structures and/or entire teeth in the laboratory depends upon the manipulation of stem cells and requires a synergy of all cellular and molecular events that finally lead to the formation of tooth-specific hard tissues, dentin and enamel. Although mesenchymal stem cells from different origins have been extensively studied in their capacity to form dentin in vitro, information is not yet available concerning the use of epithelial stem cells. The odontogenic potential resides in the oral epithelium and thus epithelial stem cells are necessary for both the initiation of tooth formation and enamel matrix production. This review focuses on the different sources of stem cells that have been used for making teeth in vitro and their relative efficiency. Embryonic, post-natal or even adult stem cells were assessed and proved to possess an enormous regenerative potential, but their application in dental practice is still problematic and limited due to various parameters that are not yet under control such as the high risk of rejection, cell behaviour, long tooth eruption period, appropriate crown morphology and suitable colour. Nevertheless, the development of biological approaches for dental reconstruction using stem cells is promising and remains one of the greatest challenges in the dental field for the years to come.

  3. Tooth color: effects on judgments of attractiveness and age.

    Science.gov (United States)

    Grosofsky, Alexis; Adkins, Sarah; Bastholm, Robert; Meyer, Leif; Krueger, Lisa; Meyer, Joshua; Torma, Peter

    2003-02-01

    Tooth whitening has become a very popular procedure. Advertisements for whitening products imply that whiter teeth are more attractive than yellower teeth. We tested this idea empirically by manipulating the tooth color of pictures of male and female targets. Participants' ratings of attractiveness were not influenced by tooth color. Exp. 2 yielded a negative correlation between attractiveness and age ratings: targets judged to be older were rated as less attractive. Unless whiter teeth help in some other way, e.g., improved self-esteem or confidence, it seems that tooth whitening procedures or products are not associated with increased attractiveness to others.

  4. Side effects of external tooth bleaching

    DEFF Research Database (Denmark)

    Bruzell, E.M.; Pallesen, Ulla; Thoresen, N.R.

    2013-01-01

    Objective The study was performed to assess the risk of at-home and in-office bleaching procedures, and to recognise potential predictors for side effects. Design Multi-centre, questionnaire-based prospective study with follow-ups at around 14 days and around one year post-treatment. Setting...... General practices and university clinics during the years 2007‑2009 in Scandinavia. Subjects Patients with tooth bleaching as part of the treatment plan. Results The prevalence of experienced tooth sensitivity at first follow-up was independent of bleaching procedure (at-home = 50.3% [n = 143]; in...... attributed to the bleaching treatment in the at-home and in-office groups, respectively. Predictors for side effects were tooth sensitivity, surface loss and gingivitis when observed at inclusion. Treatment-related predictors were bleaching concentration and contact between tray and gingiva. Conclusions...

  5. 2016-2017 Travel Expense Reports for Mary Anne Chambers ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Beata Bialic

    Date(s):. 2016-07-06. Destination(s):. Ottawa. Airfare: $482.11. Other. Transportation: $64.30. Accommodation: $0.00. Meals and. Incidentals: $25.28. Other: $0.00. Total: $571.69. Comments: 2016-2017 Travel Expense Reports for Mary. Anne Chambers, Governor, Chairperson of the. Human Resources Committee.

  6. 1970. aastatel alustas arhitektidest sõprade ja kolleegide rühm... / Mari Laanemets

    Index Scriptorium Estoniae

    Laanemets, Mari, 1975-

    2008-01-01

    27.VI avatakse Eesti Arhitektuurimuuseumis Rotermanni soolalaos 1970. ja 1980. alguse eksperimentaalset arhitektuuripraktikat käsitlev näitus "Keskkond, objektid, kontseptsioonid. Tallinna kooli arhitektid 1972-1985". Näha saab Ülevi Eljandi, Ignar Fjuki, Veljo Kaasiku, Tiit Kaljundi, Vilen Künnapu, Leonhard Lapini, Avo-Himm Looveere, Kristin-Mari Looveere, Marika Lõokese, Jüri Okase, Jaan Olliku, Ain Padriku, Toomas Reinu, Andres Ringo, Sirje Runge, Harry Sheini, Tõnis Vindi ja Matti Õunapuu töid. Näituse kuraatorid Andres Kurg ja Mari Laanemets. Samas: "Uue arhitektuuri näituse programm" (1972)

  7. Kunsti kuumtöötlus Läti aladel / Mari Sobolev

    Index Scriptorium Estoniae

    Sobolev, Mari, 1968-

    2004-01-01

    Pedvale vabaõhumuuseumis toimunud rahvusvahelisest workshop'ist teemal "Kompost", mille tulemusi presenteeriti 6. VIII 2004. Ignas Kazakeviciuse, Jurate Rakeviciute, Diana Dimzha-Dime, Ule Björn Gundermanni, Remo Randveri, Maris Grosbahsi, Andrus Joonase töödest

  8. Clinical evaluation of a newly designed orthodontic tooth brush - A clinical study

    Directory of Open Access Journals (Sweden)

    C S Saimbi

    2009-01-01

    In this study, the newly designed orthodontic tooth brush is compared with an ordinary tooth brush. Results of this study show that the newly designed orthodontic tooth brush is superior in its cleaning efficiency as compared to the ordinary tooth brush. The results show that plaque removing capacity of orthodontic tooth brush is nearly 95-99%.

  9. Power Consumption Optimization in Tooth Gears Processing

    Science.gov (United States)

    Kanatnikov, N.; Harlamov, G.; Kanatnikova, P.; Pashmentova, A.

    2018-01-01

    The paper reviews the issue of optimization of technological process of tooth gears production of the power consumption criteria. The authors dwell on the indices used for cutting process estimation by the consumed energy criteria and their applicability in the analysis of the toothed wheel production process. The inventors proposed a method for optimization of power consumptions based on the spatial modeling of cutting pattern. The article is aimed at solving the problem of effective source management in order to achieve economical and ecological effect during the mechanical processing of toothed gears. The research was supported by Russian Science Foundation (project No. 17-79-10316).

  10. Addressing Tooth Decay in Head Start Children

    Science.gov (United States)

    Knowlden, Adam P.; Hill, Lawrence F.; Alles-White, Monica L.; Cottrell, Randall R.

    2012-01-01

    Tooth decay is the most prevalent chronic disease of childhood. Oral health education and dental services are crucial to reducing the number of children afflicted with dental cavities. Due to limited access to preventative care, Head Start children are particularly vulnerable to tooth decay. This article outlines practical implications of a…

  11. Relationship between natural tooth shade and skin colour.

    Science.gov (United States)

    Nourbakhsh, M; Mousavinejad, N; Adli, A R; Harati, M

    2013-06-01

    The purpose of this study was to assess the correlation of skin colour and tooth shade. One hundred and twenty six individuals aging between 18 to 25 years participated in this study. Colour of the maxillary central incisors was examined by VITA easy shade. Tooth shades were assigned to four ordinal values. Nivea Beauty Protect Foundation shade sample was used as a guide to assess facial skin colour Shin colours were also assigned to four ordinal values. Spearman test revealed that there was a significant relationship between tooth shade and skin colour Total co-relation factor was 51.6% (p men (p <0 .01). The highest tooth shade prevalence belonged to the second group and the highest skin colour prevalence was also in the second skin colour group.

  12. The medical applications of the discoveries of Marie Sklodowska-Curie

    International Nuclear Information System (INIS)

    Krawczyk, M.

    2011-01-01

    In this work, the author indicates what have been the applications of the discoveries of Marie Curie in the field of medicine and how these discoveries have contributed in particular to the development of oncologic radiotherapy. (O.M.)

  13. Rundum artist-run space and its elusive form / Hanna Laura Kaljo, Mari-Leen Kiipli, Kulla Laas ... [jt.

    Index Scriptorium Estoniae

    2015-01-01

    Rundum on 2013. a septembris Tallinnas loodud liikuv loominguline platvorm, mille eesmärgiks on suhestuda erinevate kohtadega, reageerida tühikutele Eesti loomemaastikus ning uurida sealjuures ka omaalgatuslike praktikate võimalikkust kohalikus kontekstis. Vestlusringis Rundumi algatajad Mari-Leen Kiipli, Kulla Laas, Aap Tepper, Mari Volens, Kristina Õllek

  14. 2016-2017 Travel Expense Reports for Mary Anne Chambers ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    chantal taylor

    Purpose: Board meetings. Date(s):. 2017-03-19 to 2017-03-22. Destination(s):. Ottawa. Airfare: $121.05. Other. Transportation: $51.92. Accommodation: $926.48. Meals and. Incidentals: $190.40. Other: $0.00. Total: $1,289.85. Comments: 2016-2017 Travel Expense Reports for Mary. Anne Chambers, Governor ...

  15. Power loss analysis in altered tooth-sum spur gearing

    Directory of Open Access Journals (Sweden)

    Sachidananda H. K.

    2018-01-01

    Full Text Available The main cause of power loss or dissipation of heat in case of meshed gears is due to friction existing between gear tooth mesh and is a major concern in low rotational speed gears, whereas in case of high operating speed the power loss taking place due to compression of air-lubricant mixture (churning losses and windage losses due to aerodynamic trial of air lubricant mixture which controls the total efficiency needs to be considered. Therefore, in order to improve mechanical efficiency it is necessary for gear designer during gear tooth optimization to consider these energy losses. In this research paper the power loss analysis for a tooth-sum of 100 altered by ±4% operating between a specified center distance is considered. The results show that negative altered tooth-sum gearing performs better as compared to standard and positive altered tooth-sum gearing.

  16. Umbilical metastasis (Sister Mary Joseph's nodule diagnosed by fine-needle aspiration

    Directory of Open Access Journals (Sweden)

    Tatomirović Željka

    2004-01-01

    Full Text Available Sister Mary Joseph’s nodule is the eponym for metastatic involvement of the umbilicus. This less common entity is the sign of disseminated malignant disease, mainly of digestive and gynecologic origin, and is associated with a poor prognosis. A case of Sister Mary Joseph’s nodule in a 76-year-old woman in whom the umbilical metastasis was the first sign of malignant disease in presented. The diagnosis of metastatic adenocarcinoma was established by fine needle aspiration cytology of the umbilical nodule. Radiological and ultrasonographic investigation disclosed carcinoma of the gallbladder with pancreas, stomach, and colon invasion as well as peritoneal dissemination. The diagnosis was confirmed by exploratory laparatomy and histological examination of the excised umbilical nodule.

  17. Mapping Femininity as Self-reflection Strategy in Lady Mary Wortley Montagu’s Travel Letters

    OpenAIRE

    Amelia Precup

    2017-01-01

    The present paper participates in the discussion about the differences between masculine and feminine modes of travel in terms of interests, perception, and representation, by exploring the Letters of the Right Honourable Lady M--y W--y M--e Written during Her Travels in Europe, Asia and Africa, by Lady Mary Wortley Montagu. As a traveller, Lady Mary engaged in the contemplation of cultural landscapes: she attempted to understand the social logic of the communities she met and to assess the c...

  18. In honour of Marie Sklodowska-Curie

    International Nuclear Information System (INIS)

    Karlik, Berta

    1967-01-01

    This year marks the hundredth anniversary of the birth in Poland of Marie Sklodowska-Curie, originator of the word 'radioactivity', whose early research in the subject has had far-reaching consequences for the nuclear sciences. The Government of Poland's arrangements for marking the occasion include an international symposium, restoration of her house in Warsaw, publications and films, and the Agency is happy to collaborate. This article, from a distinguished Austrian scientist, indicates how her work was carried out in an atmosphere of co-operation between scientists of many nations

  19. Artificial intelligence for Mariáš

    OpenAIRE

    Kaštánková, Petra

    2016-01-01

    This thesis focuses on the implementation of a card game, Mariáš, and an artificial intelligence for this game. The game is designed for three players and it can be played with either other human players, or with a computer adversary. The game is designed as a client-server application, whereby the player connects to the game using a web page. The basis of the artificial intelligence is the Minimax algorithm. To speed it up we use the Alpha-Beta pruning, hash tables for storing equivalent sta...

  20. Mart ja Mari-Ann Susi taotlevad omanikena Concordia pankrotti / Andri Maimets

    Index Scriptorium Estoniae

    Maimets, Andri, 1979-

    2003-01-01

    Concordia Ülikooli rektor Mart Susi esitas kohtule avalduse, milles taotleb ülikooli pidanud Concordia Varahalduse OÜ pankroti väljakuulutamist. Vt. samas: Mari-Ann Susi õigustas ülikooli raha kasutamist

  1. Sigmund Freud's evolution from neurology to psychiatry: evidence from his La Salpêtrière library.

    Science.gov (United States)

    Bogousslavsky, Julien

    2011-10-04

    To analyze the parallel between the scientific evolution of Sigmund Freud and his French library during and after his stay with Jean-Martin Charcot at La Salpêtrière in 1885-1886. Systematic review of all identified volumes of Freud's personal library, and comparison with his life data and publications. The largest part of Freud's 125 French medical books up to 1900 (of 3,725 books overall) are devoted to hysteria and hypnotism, published mainly between 1885 and 1895. Over one-third (50) of the neurology (94) and alienism (22) books have Charcot or one of his direct pupils (Janet, Féré, Babinski, Gilles de la Tourette, Richer, Pitres, Sollier, Raymond, Marie, Binet, Ball, Bourneville, Blocq, Berbez, Guinon, and Souques) as author. During that period, Freud evolved from the clinical-anatomic method (after mainly experimental histologic studies) to theoretical neurology (using hysteria and aphasia models) and psychology, a process which subsequently led to the birth of psychoanalysis. The library of Freud gives an interesting account on his own evolving thinking, which led him to leave neurology for psychology and psychoanalysis.

  2. Infrared light sensor applied to early detection of tooth decay

    Science.gov (United States)

    Benjumea, Eberto; Espitia, José; Díaz, Leonardo; Torres, Cesar

    2017-08-01

    The approach dentistry to dental care is gradually shifting to a model focused on early detection and oral-disease prevention; one of the most important methods of prevention of tooth decay is opportune diagnosis of decay and reconstruction. The present study aimed to introduce a procedure for early diagnosis of tooth decay and to compare result of experiment of this method with other common treatments. In this setup, a laser emitting infrared light is injected in core of one bifurcated fiber-optic and conduced to tooth surface and with the same bifurcated fiber the radiation reflected for the same tooth is collected and them conduced to surface of sensor that measures thermal and light frequencies to detect early signs of decay below a tooth surface, where demineralization is difficult to spot with x-ray technology. This device will can be used to diagnose tooth decay without any chemicals and rays such as high power lasers or X-rays.

  3. 2016-2017 Travel Expense Reports for Mary Anne Chambers ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Beata Bialic

    Purpose: Board meetings. Date(s):. 2016-11-20 to 2016-11-23. Destination(s):. Ottawa. Airfare: $445.14. Other. Transportation: $29.05. Accommodation: $786.80. Meals and. Incidentals: $76.79. Other: $0.00. Total: $1,337.78. Comments: 2016-2017 Travel Expense Reports for Mary. Anne Chambers, Governor, Chairperson ...

  4. 2016-2017 Travel Expense Reports for Mary Anne Chambers ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Beata Bialic

    Date(s):. 2016-08-14 to 2016-08-23. Destination(s):. Peru/Colombia. Airfare: $3,484.87. Other. Transportation: $0.00. Accommodation: $1,942.21. Meals and. Incidentals: $395.27. Other: $75.50. Total: $5,897.85. Comments: 2016-2017 Travel Expense Reports for Mary. Anne Chambers, Governor, Chairperson of the.

  5. 21 CFR 872.3750 - Bracket adhesive resin and tooth conditioner.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Bracket adhesive resin and tooth conditioner. 872... SERVICES (CONTINUED) MEDICAL DEVICES DENTAL DEVICES Prosthetic Devices § 872.3750 Bracket adhesive resin and tooth conditioner. (a) Identification. A bracket adhesive resin and tooth conditioner is a device...

  6. Ruum peaks olema taustaks inimeste mõtetele ja kulgemistele / Mari Koger

    Index Scriptorium Estoniae

    Koger, Mari

    2008-01-01

    Autor oma seisukohtadest ja taotlustest sisekujunduses - isikupärast, viimistletusest, avatud voolavast ruumist, stiilide kontrastist ja vanade asjade väärtustamisest. Mari Koger peab koos Taavi Aunrega sisearhitektuuribürood Boom

  7. Saukas ja Karusoo tõid Marie Underi elu teatrilavale / Andres Laasik

    Index Scriptorium Estoniae

    Laasik, Andres, 1960-2016

    2006-01-01

    20. nov. Kumu auditooriumis esietendunud Ühenduse R.A.A.A.M teatriprojekt "Under" poetess Marie Underist. Lavastajad Merle Karusoo ja Raimo Pass, kunstnik Jaagup Roomet, helilooja Urmas Lattikas, peaosas Katrin Saukas

  8. Visualization of Tooth for Non-Destructive Evaluation from CT Images

    Energy Technology Data Exchange (ETDEWEB)

    Gao, Hui; Chae, Ok Sam [Kyung Hee University, Seoul (Korea, Republic of)

    2009-06-15

    This paper reports an effort to develop 3D tooth visualization system from CT sequence images as a part of the non-destructive evaluation suitable for the simulation of endodontics, orthodontics and other dental treatments. We focus on the segmentation and visualization for the individual tooth. In dental CT images teeth are touching the adjacent teeth or surrounded by the alveolar bones with similar intensity. We propose an improved level set method with shape prior to separate a tooth from other teeth as well as the alveolar bones. Reconstructed 3D model of individual tooth based on the segmentation results indicates that our technique is a very conducive tool for tooth visualization, evaluation and diagnosis. Some comparative visualization results validate the non-destructive function of our method.

  9. Angulation change of the third molar tooth in orthodontic treatment

    Directory of Open Access Journals (Sweden)

    Ardiansyah S. Pawinru

    2017-04-01

    Full Text Available Objective : Impaction of the third molar tooth mandibular is often found in patients with orthodontic treatment. In orthodontic treatment, extraction cases of impaction of the third molar tooth are usually performed, but the patients often refuse this extraction. Extraction of premolar has a good effect on the third molar mandibular angulation during treatment. Material and Methods : This study is a retrospective clinical study with descriptive analytic to find out the effect of the first mandibular premolar tooth extraction to angulation change of the third molar mandibular in orthodontic treatment with a standard edgewise method. Angulation change was performed by comparing the third molar mandibular angulation before and after orthodontic treatment with panoramic radiographs. Angulation of the third molar tooth mandibular was calculated from the angle formed between the long axis of the tooth with the reference line infraorbita. Results : The sample comprised 60 of impacted mandibular third molar region of the left and right regions of 30 patients who had been treated declared cured in clinic of orthodontic specialist of Dentistry Faculty Padjadjaran University. The sample was divided into three (3 groups of patients before treatment angulation of the third molar tooth mandibular under 300, 300 to 600 and above 60o, then measured change of angulation and observed whether it increased, fixed or decreased. Results were analyzed by T- test and Wilcoxon test showed that there was a significant change in angulation of the third molar mandibular in orthodontic treatment with the first premolar tooth mandibular extraction. Conclusion : This study is that the first premolar tooth mandibular extraction affects the angulation of the third molar tooth mandibular after orthodontic treatment.

  10. Platelet-rich fibrin-mediated revitalization of immature necrotic tooth

    Directory of Open Access Journals (Sweden)

    Navin Mishra

    2013-01-01

    Full Text Available Contemporary studies have shown that the regeneration of tissues and root elongation is possible in necrotic immature permanent teeth. The purpose of this case report is to add a new vista in regenerative endodontic therapy by using platelet rich fibrin for revitalization of immature non vital tooth. An 11year old boy with the history of trauma was diagnosed with the pulpal necrosis and symptomatic apical periodontitis in tooth #21. Intra oral periapical radiograph showed open apex and associated immature supernumerary tooth with respect to tooth #21. Access preparation and minimal instrumentation was done to remove necrotic debris under copious irrigation with 2.5% sodium hypochlorite. Triple antibiotic paste was packed in the canal for four weeks. During second visit, 5 mL of whole blood was drawn from the medial cubital vein of the patient and blood was then subjected to centrifugation at 2400 rpm for 12 minutes for the preparation of Platelet rich fibrin (PRF utilizing Choukroun′s method. Triple antibiotic paste was removed and canal was dried. PRF clot was pushed to the apical region of tooth #21 using hand pluggers. Three milimetres of Mineral trioxide (MTA was placed in cervical part of the root canal and permanent restoration was done three days later. Clinical examination at 6 and 12 months revealed no sensitivity to percussion and palpation in tooth #21and it responded positively to both electric pulp and cold tests. Radiographic examination showed resolution of periapical rarefaction, further root development and apical closure of the tooth #21 and its associated supernumerary tooth. On the basis of successful outcome of the present case it can be stated that PRF clot may serve as a scaffold for regeneration of necrotic immature teeth.

  11. Type A aortic dissection associated with Dietzia maris.

    Science.gov (United States)

    Reyes, Guillermo; Navarro, José-Luis; Gamallo, Carlos; delas Cuevas, María-Carmen

    2006-10-01

    Aortitis is a rare cause of aortic dissection. We report the unusual presentation of a 77-year-old male patient who underwent emergency surgery for an aortic dissection type A. A purulent pericardial fluid and inflammatory aorta were found after chest opening. Several samples were sent for analysis. The ascending aorta presented a mild dilatation with a large haematoma infiltrating the aortic root. The distal part of the ascending aorta seemed unaffected. The aortic rupture was found one centimetre above the non-coronary cusp. Aortic wall tissues were extremely fragile and with an inflammatory aspect. The patient died in the theatre room. In the histological study one out of three fragments of ascending aorta displayed longitudinal splitting of the outer media, with blood extravasation in the adventitial layer. In this level, the presence of a detritus material that reminded of bacterial colonies was noteworthy, together with abundant fibrinous exudates. In the laboratory a new specimen, Dietzia maris, was found in the pericardial liquid and in the aortic wall. We believe that this is the first reported finding of Dietzia maris in a patient with aortic disease.

  12. The Importance of Tooth Decay Prevention in Children under Three

    Science.gov (United States)

    Milgrom, Peter; Huebner, Colleen; Chi, Donald

    2010-01-01

    Tooth decay and tooth loss was once the norm but public health interventions have led to major improvements for most people. Nevertheless, not all children have benefited. Dental disease in young children is unacceptably high. Tooth decay is preventable. Early childhood educators are often the first to notice the problem. Professional…

  13. Promoting positive health behaviours--'tooth worm' phenomenon and its implications.

    Science.gov (United States)

    Gao, X L; Hsu, C Y S; Xu, Y C; Loh, T; Koh, D; Hwarng, H B

    2012-03-01

    'Tooth worm' is a traditional belief about the pathogen of dental caries (tooth decay). Nevertheless, in our previous study, parental 'tooth worm' belief was linked to a reduced caries risk of their children. This study aimed to further characterize the impact of parental 'tooth worm' belief on their children's caries experience and its psychobehavioural mechanisms. analytic observational study. Thirteen randomly selected kindergartens in Singapore. 1,782 preschoolers aged 3-6 years. Each child received an oral examination and microbiological tests. Parents completed a self-administered questionnaire on their socio-demographic background, oral health knowledge/attitude and child's oral health habits. Multivariate analysis confirmed a reduced chance of 'high caries rate' (number of affected teeth > 2) among children whose parents held the 'tooth worm' belief (Odds Ratio = 0.41; 95% Confidence Interval = 0.19-0.89). With such perception among parents, children brushed their teeth more frequently (p = 0.042). Since no difference in oral hygiene was observed, the health benefit of the "tooth worm" perception may be acquired through the delivery of fluoride (an agent with proven anti-caries effect) during frequent toothbrushing episodes. This study revealed a 'tooth worm' phenomenon, indicating that parental 'tooth worm' belief is associated with early establishment of regular toothbrushing habit and reduction of dental caries in children. This phenomenon and its psychobehavioural mechanisms, enriching our understanding of oral health behaviours, have implications for effective health education.

  14. The light and brilliancy of Marie Curie

    International Nuclear Information System (INIS)

    Craig, P.

    1984-01-01

    The paper describes the life and work of Marie Curie, from her childhood to her death (at nearly 67 years), and including her marriage to Pierre Curie. The scientific work, by the Curies, leading to the discovery of polonium and radium is described, as well as the making of radium chloride. The importance of the Curies' work to theoretical science is briefly discussed, and the effects of radioactivity on the Curies is touched upon. (U.K.)

  15. Muuga / Mary von Grünewaldt ; tõlk. Mati Sirkel

    Index Scriptorium Estoniae

    Grünewaldt, Mary von

    2004-01-01

    Leo Zoegelt ostetud Muuga mõisahoone korrastamisest ja uue hoone ehitamisest C. T. von Neffi kunstikogu paigutamise tarbeks. Tütre mälestused. Tõlgitud raamatust: Skizzen und Bilder aus dem Leben Carl Timoleon von Neff / Mary von Grünewaldt. Darmstadt, 1887

  16. Orthodontic Tooth Movement with Clear Aligners

    OpenAIRE

    Drake, Carl T.; McGorray, Susan P.; Dolce, Calogero; Nair, Madhu; Wheeler, Timothy T.

    2012-01-01

    Clear aligners provide a convenient model to measure orthodontic tooth movement (OTM). We examined the role of in vivo aligner material fatigue and subject-specific factors in tooth movement. Fifteen subjects seeking orthodontic treatment at the University of Florida were enrolled. Results were compared with data previously collected from 37 subjects enrolled in a similar protocol. Subjects were followed prospectively for eight weeks. An upper central incisor was programmed to move 0.5 mm. ev...

  17. Envisioning science : Marie Curie's journey from Poland to Paris

    International Nuclear Information System (INIS)

    Odlin, S.; Fleming, J.S.

    2011-01-01

    Marya Sklodovska (nicknamed Manya), born November 1867, was the fifth and youngest child in the Sklodovski family. Marie Curie epitomised the ability to be beautifully creative. Her pioneering spirit gave her the drive to become one of the first women to gain an education, and qualifications, in the sciences. 5 refs., 1 fig.

  18. The “Mari” Hypothesis in the Study of the Toponymy of the Oka and Unzha Rivers and the Western Borders of the Old Mari Toponymic Area

    Directory of Open Access Journals (Sweden)

    Oleg V. Smirnov

    2015-12-01

    Full Text Available Referring to toponymic data, the article aims to verify the hypothesis of the western origin of the Mari people who, presumably, migrated to their present-day settlement area from the territory of Kostroma Region and the Oka River basin. The author critically examines the possibility of Mari origin of some place names in the territory in question, namely, of hydronyms ending in -ingir'. To verify the “Mari” hypothesis, the author uses the method of ethnic modelling which consists in the isolation of typical toponymic stems in present-day Mari toponymy and searching for their traces in the substrate toponymy of the studied area. The analysis leads to conclude that it is unlikely that the toponymy of the western part of Kostroma Region and the Oka River basin could be of Mari origin. The area of distribution of typical Mari place names does not display any evidence of Mari substrate or superstrate to the west of the Kerzhanets River basin. On the Western bank of the Volga, some traces of substratal Mari toponymy can be found along the banks of the Sura River as far as the city of Alatyr, however, no Mari “residue” can be found west of the Sura. The absence of Mari substrate in the toponymy of the Oka and Unzha Rivers area makes it possible to refute the hypothesis of the western origin of the Mari and their migration from the area of Gorodets and Dyakovo archaeological cultures. At the same time, the study of phonetic correspondences reflected in place names reveals evidence of close kinship of the substratal dialects of Western Kostroma Region, the low Oka and Klyazma Rivers area with the Mari (Proto-Mari language.

  19. Drugs influencing orthodontic tooth movement: An overall review

    Directory of Open Access Journals (Sweden)

    Kamatchi Diravidamani

    2012-01-01

    Full Text Available Orthodontic treatment is based on the premise that when force is delivered to a tooth and thereby transmitted to the adjacent investing tissues, certain mechanical, chemical, and cellular events take place within these tissues, which allow for structural alterations and contribute to the movement of that tooth. Molecules present in drugs and nutrients consumed regularly by patients can reach the mechanically stressed paradental tissues through the circulation and interact with local target cells. The combined effect of mechanical forces and one or more of these agents may be inhibitory, additive, or synergistic. Current orthodontic research aims to develop methods of increasing the tissue concentration of molecules promoting tooth movement, while simultaneously decreasing the concentration of unwanted elements which can produce harmful side effects. This article discusses in detail the various possible drugs that can bring about alterations in the desired orthodontic tooth movement.

  20. Potential skin involvement in ALS: revisiting Charcot's observation - a review of skin abnormalities in ALS.

    Science.gov (United States)

    Paré, Bastien; Gros-Louis, François

    2017-07-26

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons of the brain and spinal cord, leading to progressive paralysis and death. Interestingly, many skin changes have been reported in ALS patients, but never as yet fully explained. These observations could be due to the common embryonic origin of the skin and neural tissue known as the ectodermal germ layer. Following the first observation in ALS patients' skin by Dr Charcot in the 19th century, in the absence of bedsores unlike other bedridden patients, other morphological and molecular changes have been observed. Thus, the skin could be of interest in the study of ALS and other neurodegenerative diseases. This review summarizes skin changes reported in the literature over the years and discusses about a novel in vitro ALS tissue-engineered skin model, derived from patients, for the study of ALS.