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Sample records for margus punab maris

  1. Jean-Marie Straub.

    ERIC Educational Resources Information Center

    Roud, Richard

    This book covers the life and aesthetic qualities of the work of the European film-maker Jean-Marie Straub (1933- ). It contains introductory chapters on the biography and artistic milieu of Straub and continues with a chapter-by-chapter critical treatment of each of his films: "Machorka-Muff"; "Not Reconciled"; "Chronicle…

  2. Area contingency plan Sault Ste. Marie. (COTP Sault Ste. Marie)

    SciTech Connect

    1995-06-01

    The Area Contingency Plan, mandated under the Oil Pollution Act, was developed by Sault Ste. Marie Area Committee, which is chaired by the U.S. Coast Guard and consists of local, state, federal, and private members. The plan prepares in advance for an oil or hazardous substance spill in the CTOP Sault Ste. Marie Coastal Zone.

  3. Mary, dogma, and psychoanalysis.

    PubMed

    Todd, E H

    1985-06-01

    Why does Mary hold her prominent place in Catholic theology to the extent that five specific dogmas have developed around her? Psychoanalytic theory suggests dogma arises out of the psychic needs of people and psychic needs of people are expressed in dogma. The early views of Erich Fromm, a disciple of Freud, are presented to demonstrate that Marian dogma arose from the psychic needs of the people. The views of both Catholic and Protestant thinkers are presented, as well as theological and psychiatric views.

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

    ERIC Educational Resources Information Center

    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…

  5. Charcot-Marie-Tooth Disease

    MedlinePlus

    Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. ... a nerve biopsy. There is no cure. The disease can be so mild you don't realize ...

  6. Nunaput Negeqlirmi (Our Village of St. Mary's).

    ERIC Educational Resources Information Center

    Alaska State Dept. of Education, Juneau.

    Yup'ik Eskimo children from the fifth and sixth grades of St. Mary's Public School, St. Mary's, Alaska, wrote this collection of 28 short stories. The 55 page book is printed in both Yup'ik and English. It features large type and illustrations drawn by the children and is intended for use in a bilingual education program. Some of the stories deal…

  7. 18. Photocopy, 'St. Mary's School,' from the commemorative booklet published ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    18. Photocopy, 'St. Mary's School,' from the commemorative booklet published for the 125th anniversary of St. Mary's Parish, 1980. View Southwest, North Front and East Side, at St. John Street and Church Street (Original in possession of St. Mary's Parish) - St. Mary's Roman Catholic School, Northwest corner of Church Avenue & Guthrie Street, McKees Rocks, Allegheny County, PA

  8. Marie Curie during ORT4

    NASA Technical Reports Server (NTRS)

    2003-01-01

    Marie Curie rover drives down the rear ramp during Operational Readiness Test (ORT) 4.

    Pathfinder, a low-cost Discovery mission, is the first of a new fleet of spacecraft that are planned to explore Mars over thenext ten years. Mars Global Surveyor, already en route, arrives at Mars on September 11 to begin a two year orbital reconnaissance of the planet's composition, topography, and climate. Additional orbiters and landers will follow every 26 months.

    The Jet Propulsion Laboratory, Pasadena, CA, developed and manages the Mars Pathfinder mission for NASA's Office of Space Science, Washington, D.C. JPL is an operating division of the California Institute of Technology (Caltech). The Imager for Mars Pathfinder (IMP) was developed by the University of Arizona Lunar and Planetary Laboratory under contract to JPL. Peter Smith is the Principal Investigator.

  9. Marie Curie during ORT6

    NASA Technical Reports Server (NTRS)

    2003-01-01

    Marie Curie sits on the lander petal prior to deployment during the pre launch Operations Readiness Test (ORT) 6.

    Pathfinder, a low-cost Discovery mission, is the first of a new fleet of spacecraft that are planned to explore Mars over thenext ten years. Mars Global Surveyor, already en route, arrives at Mars on September 11 to begin a two year orbital reconnaissance of the planet's composition, topography, and climate. Additional orbiters and landers will follow every 26 months.

    The Jet Propulsion Laboratory, Pasadena, CA, developed and manages the Mars Pathfinder mission for NASA's Office of Space Science, Washington, D.C. JPL is an operating division of the California Institute of Technology (Caltech). The Imager for Mars Pathfinder (IMP) was developed by the University of Arizona Lunar and Planetary Laboratory under contract to JPL. Peter Smith is the Principal Investigator.

  10. Radium, Marie Curie and modern science.

    PubMed

    Langevin-Joliot, H

    1998-11-01

    In 1898, the discovery of two new elements, polonium and radium, reawakened interest in the topic of uranic rays discovered 2 years before by H. Becquerel. Radioactivity, a name coined by Marie Curie, became a major research field for decades. The contrasting personalities of Pierre Curie, already a first-rank physicist, and of the young Marie Curie-Sklodowska as they undertook their common work are described. It is shown how a well-chosen quantitative method and a systematic approach combining physics and chemistry led to the discovery within less than 1 year. The special role of radium and the determination of its atomic weight by Marie Curie followed by her long-term program for accumulating pure radium salts are emphasized. The first woman with a full professorship at a French University, Marie Curie created and managed the Radium Institute.

  11. Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine

    MedlinePlus

    ... Bar Home Current Issue Past Issues Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine Past Issues / Winter ... Zerhouni, Rep. Ralph Regula (R-OH), Mary Tyler Moore, former Rep. Paul Rogers, and NLM Director Dr. ...

  12. 21. Photocopy of drawing (from Sault Ste. Marie, MI city ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    21. Photocopy of drawing (from Sault Ste. Marie, MI city archives) showing ROADWAY ACROSS SECTION DETAILS - Spruce Street Bridge, East Spruce Street, 500 Block, spanning Power Canal, Sault Ste. Marie, Chippewa County, MI

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

    EPA Pesticide Factsheets

    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.

  14. MaRIE Undulator & XFEL Systems

    SciTech Connect

    Nguyen, Dinh Cong; Marksteiner, Quinn R.; Anisimov, Petr Mikhaylovich; Buechler, Cynthia Eileen

    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.

  15. Precise and Efficient Retrieval of Captioned Images: The MARIE Project.

    ERIC Educational Resources Information Center

    Rowe, Neil C.

    1999-01-01

    The MARIE project explores knowledge-based information retrieval of captioned images of the kind found in picture libraries and on the Internet. MARIE's five-part approach exploits the idea that images are easier to understand with context, especially descriptive text near them, but it also does image analysis. Experiments show MARIE prototypes…

  16. 17. Photocopy, 'St. Mary's New School,' from the commemorative booklet ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    17. Photocopy, 'St. Mary's New School,' from the commemorative booklet published for the dedication of the school, September 1923. View Southeast, North Front and West Side perspective at Church and Guthrie Street, including Rectory and Church (Original in possession of St. Mary's Parish) - St. Mary's Roman Catholic School, Northwest corner of Church Avenue & Guthrie Street, McKees Rocks, Allegheny County, PA

  17. Mary Elizabeth Hickox Mandels, 90, bioenergy leader

    PubMed Central

    Allen, Fred; Andreotti, Raymond; Eveleigh, Douglas E; Nystrom, John

    2009-01-01

    Mary E H Mandels, who spearheaded the US Army's national bioconversion studies for four decades and was an early proponent of conversion of waste biomass to readily bioconvertible sugars for the production of chemicals and transportation fuels such as ethanol, died 17 February 2008 at Natick, MA, USA. She was 90. PMID:19723299

  18. Fumarolic activity in marie byrd land, antarctica.

    PubMed

    Lemasurier, W E; Wade, F A

    1968-10-18

    Ice towers, probably formed by recent fumarolic activity, have been found around the summit calderas of two volcanoes in Marie Byrd Land. These active (?) volcanoes lie within a broad belt of Mesozoic intrusion and late Cenozoic extrusion that appears to be part of the circum-Pacific orogenic province.

  19. Classroom Instruction: The Influences of Marie Clay

    ERIC Educational Resources Information Center

    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…

  20. Mary Wollstonecraft and Catharine Macaulay on Education

    ERIC Educational Resources Information Center

    Frazer, Elizabeth

    2011-01-01

    Catharine Macaulay and Mary Wollstonecraft are linked by intellectual and political bonds; for both, education is a philosophical and political preoccupation in its own right, and also interacts with philosophical questions of morality, social power, theology, truth and human action. Macaulay's philosophical and political engagements with Hobbes,…

  1. The Saint Mary's Woman: toward Intellectual Leadership.

    ERIC Educational Resources Information Center

    White, Patrick E.

    This two-year project at Saint Mary's College, a women's college in Notre Dame (Indiana), focused on building intellectual community and fostering student leadership skills. The study targeted two student groups: (1) students with much to contribute to the intellectual life of the college but alienated from traditional forms of leadership, and (2)…

  2. Mary Somerville: a scientist and her ship.

    PubMed

    Fara, Patricia

    2008-09-01

    Mary Somerville enjoyed posing for busts and portraits, yet just as in her autobiography, she chose how she wished to be seen. A powerful advocate for scientific progress, Somerville gave her name to a ship that carried British products around the world, and portrayed herself as an ideal role model for women and also an exemplar of European civilisation.

  3. Mary Bidwell Breed: The Educator as Dean.

    ERIC Educational Resources Information Center

    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.…

  4. Mary Budd Rowe: A Storyteller of Science

    ERIC Educational Resources Information Center

    Bianchini, Julie A.

    2008-01-01

    This article examines Mary Budd Rowe's groundbreaking and far-reaching contributions to science education. Rowe is best known for her research on wait-time: the idea that teachers can improve the quality and length of classroom discussions by waiting at least 3 s before and after student responses. Her wait-time research grew from and helped…

  5. Mary Slessor (1848-1915), Pedagogue Extraordinary.

    ERIC Educational Resources Information Center

    Taylor, W. H.

    1993-01-01

    Mary Slessor was a Scottish missionary who established many schools in Nigeria and developed close relationships with Nigerian chiefs and tribal members. She championed women's rights and focused her educational endeavors on vocational training relevant to the local economy. Slessor incorporated her knowledge of Nigerian culture into her teaching…

  6. Visions of Mary Wollstonecraft: Implications for Education.

    ERIC Educational Resources Information Center

    Manus, Alice L.

    This paper discusses the educational and social philosophy of Mary Wollstonecraft, an English writer of the 18th century. Her works included "Vindication of the Rights of Man," and her best know work, "Vindication of the Rights of Woman" which was published in 1792 and consisted of the first sustained argument for female…

  7. Women in History--Mary Seacole

    ERIC Educational Resources Information Center

    Harmer, Bonnie

    2005-01-01

    Born in Jamaica in 1805, Mary Seacole (nee Grant), was the daughter of a Black Creole boarding house owner and a Scottish Army officer. Like many Creole doctress women, Seacole was taught African herbal medicine arts from her mother. In addition to understanding traditional herbal medicine, she gleaned an understanding of Western medicine from the…

  8. Mary Grant Seacole: the first nurse practitioner.

    PubMed

    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.

  9. Women who Worked with Marie Curie.

    PubMed

    Pigeard-Micault, Natalie

    2015-06-01

    Marie Curie directed a research laboratory for 28 years. Between 1906 and 1934, forty five women worked under her guidance. Some were, and are, well-known in their own countries as their first woman full professor such as Ellen Gleditsch or Margaret von Wrangel, but for twenty eight of them, who were often French, nothing has ever been written. The strong presence of women in Marie Curie's laboratory has often been highlighted and has been considered as an exception, and the result of deliberate choice. Of course, these women did not choose this workplace by accident. They knew its director was a woman, a laureate of one, and after 1911, two Nobel Prizes, who was leading a well-equipped laboratory with an important radioactive source. But how did Marie Curie selected her collaborators among the many applications she received? Was her choice influenced by gender? A prosopographical research based on genealogical researches and new sources explains this presence contextually and sheds light on several questions : where did these women come from, what were their social and geographic origins, did they occupy any specific cultural or technical area inside Curie's lab, what future did they have after the laboratory? Through their lives, we can question the existence, or not, of a one profile of the female researcher in scientific areas in France.

  10. NASA and Mary J. Blige Encourage Exciting Careers For Women

    NASA Video Gallery

    NASA is collaborating with award-winning recording artist Mary J. Blige to encourage young women to pursue exciting experiences and career choices through studying science, technology, engineering ...

  11. Pediatric Charcot-Marie-Tooth disease.

    PubMed

    Jani-Acsadi, Agnes; Ounpuu, Sylvia; Pierz, Kristan; Acsadi, Gyula

    2015-06-01

    Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population. The typical clinical presentation includes distal muscle weakness and atrophy, but the severity and progression are largely variable. Improvements in supportive treatment have led to better preservation of patients' motor functions. More than 80 genes have been associated with CMT. These genetic discoveries, along with the developments of cellular and transgenic disease models, have allowed clinicians to better understand the disease mechanisms, which should lead to more specific treatments.

  12. Marie Curie's contribution to Medical Physics.

    PubMed

    Jean-Claude, Rosenwald; Nüsslin, Fridtjof

    2013-09-01

    On occasion of its 50th anniversary, the International Organization for Medical Physics (IOMP) from now on is going to celebrate annually an International Day of Medical Physics for which the 7th November, the birthday of Marie Sklodowska Curie, a most exceptional character in science at all and a pioneer of medical physics, has been chosen. This article briefly outlines her outstanding personality, sketches her fundamental discovery of radioactivity and emphasizes the impact of her various achievements on the development of medical physics at large.

  13. Mary Budd Rowe: a storyteller of science

    NASA Astrophysics Data System (ADS)

    Bianchini, Julie A.

    2008-12-01

    This article examines Mary Budd Rowe's groundbreaking and far-reaching contributions to science education. Rowe is best known for her research on wait-time: the idea that teachers can improve the quality and length of classroom discussions by waiting at least 3 s before and after student responses. Her wait-time research grew from and helped inform her staunch advocacy of science education as inquiry; Rowe saw wonder and excitement as central to the teaching and learning of science. She spent much of her professional life designing professional development experiences and innovative curriculum materials to help teachers, particularly elementary school teachers, enact inquiry in their classrooms.

  14. Water resources of St. Mary Parish, Louisiana

    USGS Publications Warehouse

    Prakken, Lawrence B.; White, Vincent E.; Lovelace, John K.

    2014-01-01

    Information concerning the availability, use, and quality of water in St. Mary Parish, Louisiana, is critical for proper water-supply management. The purpose of this fact sheet is to present information that can be used by water managers, parish residents, and others for management of this vital resource. Information on the availability, past and current use, use trends, and water quality from groundwater and surface-water sources in the parish is presented. Previously published reports and data stored in the U.S. Geological Survey’s National Water Information System (http://waterdata.usgs.gov/nwis) are the primary sources of the information presented here.

  15. Exploration of the Mars Radiation Environment Using MARIE

    NASA Technical Reports Server (NTRS)

    Cucinotta, F.; Badhwar, G.; Zeitlin, C.; Cleghorn, T.; Bahr, J.; Beyer, T.; Chambellan, C.; Delaune, P.; Dunn, R.; Flanders, J.

    2002-01-01

    One of three science instruments onboard Mars Odyssey is the Mars Radiation Environment Experiment (MARIE), which is described here. MARIE is an energetic particle spectrometer which will characterize the space radiation environment of Mars and determine its risk to human exploration. Additional information is contained in the original extended abstract.

  16. Marie and Pierre Curie and radium: history, mystery, and discovery.

    PubMed

    Mould, R F

    1999-09-01

    Commencing with Marie Curie's early life in Poland and the discovery of radium in the rue l'Homond "shed" in Paris in 1898, this paper includes some little known facts. It ends with some unusual uses of and claims for radium, and finally, because Medical Physics is an American journal, details are included of Marie Curie's two visits to the USA.

  17. 33 CFR 117.653 - St. Mary's Falls Canal.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false St. Mary's Falls Canal. 117.653 Section 117.653 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Michigan § 117.653 St. Mary's Falls Canal. The draw...

  18. Results from the Martian Radiation Environment Experiment MARIE

    NASA Technical Reports Server (NTRS)

    Zeitlin, C.; Cleghorn, T.; Cucinotta, F.; Saganti, P.; Andersen, V.; Lee, K.; Pinsky, L.; Atwell, W.; Turner, R.

    2003-01-01

    One of the three science instruments aboard the 2001 Mars Odyssey spacecraft is the Martian Radiation Environment Experiment, MARIE. MARIE consists of a stack of silicon detectors, augmented by a Cerenkov detector. MARIE is designed to measure a portion of the particle spectrum of the Galactic Cosmic Rays (GCR), as well as the high fluxes of low-energy protons (energies less than about 100 MeV) that are intermittently produced by active regions on the sun in Solar Particle Events (SPE). MARIE is providing the first detailed information about the radiation environment near Mars.measurements. MARIE has been operating successfully for nearly a year. Solar particle events of considerable interest have been observed, and data have been obtained that will yield GCR spectra from a novel observation point in the solar system.

  19. Roadmap to MaRIE March 2015

    SciTech Connect

    Barnes, Cris William

    2015-03-30

    Los Alamos National Laboratory’s proposed MaRIE facility is slated to introduce the world’s highest energy hard x-ray free electron laser (XFEL). As the light source for the Matter-Radiation Interactions in Extremes experimental facility (MaRIE), the 42-keV XFEL, with bursts of x-ray pulses at gigahertz repetition for studying fast dynamical processes, will help accelerate discovery and design of the advanced materials needed to meet 21st-century national security and energy security challenges. Yet the science of free-electron lasers has a long and distinguished history at Los Alamos National Laboratory (LANL), where for nearly four decades Los Alamos scientists have been performing research, design, development, and collaboration work in FEL science. The work at Los Alamos has evolved from low-gain amplifier and oscillator FEL development to highbrightness photoinjector development, and later, self-amplified spontaneous emission (SASE) and high-gain amplifier FEL development.

  20. Mary Anning: the fossilist as exegete.

    PubMed

    Goodhue, Thomas W

    2005-03-01

    The fossil hunter Mary Anning began collecting her 'curiosities' at a time when the age and nature of these relics from the past were little understood. Her spectacular discoveries of prehistoric marine reptiles, fossilized fish and a pterosaur touched off a geology-mania around the world. Two documents that have escaped previous analysis cast light on the religious journey of this remarkable woman. An eight-page manuscript at the Natural History Museum in London indicates a fascination with Benjamin West's painting 'Christ Rejected' and sophistication in Biblical interpretation; and a commonplace book at the Dorset County Museum in Dorchester tracks the shift in her Christian denomination from dissent to the Established Church, providing further indication of her spiritual depth - a piety that furthered, rather than hindered, her scientific progress.

  1. The life and legacy of Marie Curie.

    PubMed Central

    Rockwell, Sara

    2003-01-01

    Marie Curie was a remarkable woman whose discoveries broke new ground in physics and chemistry and also opened the door for advances in engineering, biology, and medicine. She broke new ground for women in science: she was, for example, the first woman to receive a doctor of science degree in France, the first woman to win Nobel Prize, the first woman to lecture at the Sorbonne, the first person to win two Nobel Prizes, and the first Nobel Laureate whose child also won a Nobel Prize. Her life offers insights into the changing role of women in science and academia over the past century. It also offers examples of many ways in which scientists can, and should, work to improve the educational programs and career opportunities available to those who follow in their footsteps. Images Figure 1 Figure 2 Figure 3 PMID:15482656

  2. The life and legacy of Marie Curie.

    PubMed

    Rockwell, Sara

    2003-01-01

    Marie Curie was a remarkable woman whose discoveries broke new ground in physics and chemistry and also opened the door for advances in engineering, biology, and medicine. She broke new ground for women in science: she was, for example, the first woman to receive a doctor of science degree in France, the first woman to win Nobel Prize, the first woman to lecture at the Sorbonne, the first person to win two Nobel Prizes, and the first Nobel Laureate whose child also won a Nobel Prize. Her life offers insights into the changing role of women in science and academia over the past century. It also offers examples of many ways in which scientists can, and should, work to improve the educational programs and career opportunities available to those who follow in their footsteps.

  3. Diagnosis of Charcot-Marie-Tooth Disease

    PubMed Central

    Banchs, Isabel; Casasnovas, Carlos; Albertí, Antonia; De Jorge, Laura; Povedano, Mónica; Montero, Jordi; Martínez-Matos, Juan Antonio; Volpini, Victor

    2009-01-01

    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. PMID:19826499

  4. 4. VIEW OF SILVER BRIDGE (ST. MARY'S BRIDGE), CARRYING COUNTY ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    4. VIEW OF SILVER BRIDGE (ST. MARY'S BRIDGE), CARRYING COUNTY ROAD OVER SOURIS RIVER NEAR SOUTH END OF REFUGE, LOOKING NORTHEAST - Upper Souris National Wildlife Refuge Dams, Souris River Basin, Foxholm, Surrey (England), ND

  5. 10. Historic American Buildings Survey W. N. Manning, Photographer, Mary ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    10. Historic American Buildings Survey W. N. Manning, Photographer, Mary 17, 1935 FIREPLACE IN LIVING ROOM, N.E. ROOM - Lewis Llewellyn Cato House, 823 West Barbour Street, Eufaula, Barbour County, AL

  6. Marie Curie's Doctoral Thesis: Prelude to a Nobel Prize.

    ERIC Educational Resources Information Center

    Wolke, Robert L.

    1988-01-01

    Traces the life and research techniques of Marie Curie's doctoral dissertation leading to the discovery and purification of radium from ore. Reexamines the discoveries of other scientists that helped lead to this separation. (ML)

  7. Students Speak With Vacuum Chamber Project Manager Mary Cerimele

    NASA Video Gallery

    From the International Space Station Flight Control Room at NASA's Johnson Space Center, Vacuum Chamber A Project Manager Mary Cerimele participates in a Digital Learning Network (DLN) event with s...

  8. Mary Carpenter: 19th Century English Correctional Education Hero.

    ERIC Educational Resources Information Center

    Gehring, Thom; Bowers, Fredalene B.

    2003-01-01

    Describes Mary Carpenter's (1807-1877) work in prison reform and correctional education. Provides biographical information and selections from her writings. (Contains 11 references and a chronology of her work.) (JOW)

  9. Deployment of Autonomous GPS Stations in Marie Byrd Land, Antartica

    NASA Technical Reports Server (NTRS)

    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. Martian Radiation Environment: Model Calculations and Recent Measurements with "MARIE"

    NASA Technical Reports Server (NTRS)

    Saganti, P. B.; Cucinotta, F. A.; zeitlin, C. J.; Cleghorn, T. F.

    2004-01-01

    The Galactic Cosmic Ray spectra in Mars orbit were generated with the recently expanded HZETRN (High Z and Energy Transport) and QMSFRG (Quantum Multiple-Scattering theory of nuclear Fragmentation) model calculations. These model calculations are compared with the first eighteen months of measured data from the MARIE (Martian Radiation Environment Experiment) instrument onboard the 2001 Mars Odyssey spacecraft that is currently in Martian orbit. The dose rates observed by the MARIE instrument are within 10% of the model calculated predictions. Model calculations are compared with the MARIE measurements of dose, dose-equivalent values, along with the available particle flux distribution. Model calculated particle flux includes GCR elemental composition of atomic number, Z = 1-28 and mass number, A = 1-58. Particle flux calculations specific for the current MARIE mapping period are reviewed and presented.

  11. Reconnaissance Report for Hydropower Redevelopment at Sault Ste. Marie, Michigan.

    DTIC Science & Technology

    1981-01-01

    hydropower facility. The St. Marys River, extending from Whitefish Bay at the east end of Lake Superior to Lake Huron , falls about 22 feet over a...connects the southeast end of Lake Superior with the north end of Lake Huron . The St. Marys River is about 67 miles long and is bordered on one side by...2-Way Channels (Including Anchorage Areas) and Over Westerly 300-Foot Width of Upbound Middle Neebish Channel, When Levels of Lake Superior and Huron

  12. Molecular Identification of a Dietzia maris Hip Prosthesis Infection Isolate

    PubMed Central

    Pidoux, O.; Argenson, J.-N.; Jacomo, V.; Drancourt, M.

    2001-01-01

    Dietzia maris, an environmental actinomycete, has been implicated only once in human disease. We herein report the first D. maris isolate from a bone biopsy specimen in a patient hospitalized for a total hip prosthesis replacement. Cell wall fatty acid analysis and 16S ribosomal DNA gene sequencing were utilized to achieve its definite identification. This case report illustrates the usefulness of such methods for the accurate identification of actinomycetes. PMID:11427581

  13. Monte Carlo Simulations of the Response of the MARIE Instrument

    NASA Technical Reports Server (NTRS)

    Andersen, V.; Lee, K.; Pinsky, L.; Atwell, W.; Cleghorn, T.; Cucinotta, F.; Saganti, P.; Turner, R.; Zeitlin, C.

    2003-01-01

    The MARIE instrument aboard Mars Odyssey functions as a telescope for the detection of charged, energetic, nuclei. The directionality that leads to the telescope description is achieved by requiring coincident signals in two designated detectors in MARIE s silicon detector stack for the instrument to trigger. Because of this, MARIE is actually a bi directional telescope. Triggering particles can enter the detector stack by passing through the lightly shielded front of the instrument, but can also enter the back of the instrument by passing through the bulk of Odyssey. Because of this, understanding how to relate the signals recorded by MARIE to astrophysically important quantities such as particle fluxes or spectra exterior to the spacecraft clearly requires detailed modeling of the physical interactions that occur as the particles pass through the spacecraft and the instrument itself. In order to facilitate in the calibration of the MARIE data, we have begun a program to simulate the response of MARIE using the FLUKA [1] [2] Monte Carlo radiation transport code.

  14. MaRIE theory, modeling and computation roadmap executive summary

    SciTech Connect

    Lookman, Turab

    2010-01-01

    The confluence of MaRIE (Matter-Radiation Interactions in Extreme) and extreme (exascale) computing timelines offers a unique opportunity in co-designing the elements of materials discovery, with theory and high performance computing, itself co-designed by constrained optimization of hardware and software, and experiments. MaRIE's theory, modeling, and computation (TMC) roadmap efforts have paralleled 'MaRIE First Experiments' science activities in the areas of materials dynamics, irradiated materials and complex functional materials in extreme conditions. The documents that follow this executive summary describe in detail for each of these areas the current state of the art, the gaps that exist and the road map to MaRIE and beyond. Here we integrate the various elements to articulate an overarching theme related to the role and consequences of heterogeneities which manifest as competing states in a complex energy landscape. MaRIE experiments will locate, measure and follow the dynamical evolution of these heterogeneities. Our TMC vision spans the various pillar science and highlights the key theoretical and experimental challenges. We also present a theory, modeling and computation roadmap of the path to and beyond MaRIE in each of the science areas.

  15. Referrals to the Marie Curie nursing service in North Yorkshire.

    PubMed

    Hanratty, B; Feather, J; Ward, C

    2000-01-01

    District and Marie Curie nurses participated in a small-scale study to describe referrals to a Marie Curie service in one English health district over a 3-month period. The number of new patients referred was small; they were geographically clustered and had widely differing life expectancies. Anecdotal reports of difficulties with the 'Nurselink' referral system were not confirmed, and in situations where the system was in operation, Marie Curie nurses were more likely to speak directly to the referring nurse. The most frequently cited reason for referral was general nursing needs; however, Marie Curie nurses felt that they were most often involved to provide family support. These findings suggest that there may not be a shared understanding of the Marie Curie nurse's role, and that equity in community palliative nursing care merits examination. Defining and publicizing the role of the Marie Curie nurse, providing guidance for referrals and prioritizing communication between professionals are proposed not only to enhance the service locally but to ensure that the service is available to all. This article illustrates the value of research to identify ways to improve service delivery.

  16. [Pathology of Charcot-Marie-Tooth Disease].

    PubMed

    Oka, Nobuyuki

    2016-01-01

    Although genetic testing is available, nerve biopsy is useful in selected patients for the diagnosis of Charcot-Marie-Tooth disease (CMT). These are sporadic cases of hereditary neuropathy, or familial cases in which genetic testing is negative. CMT is caused by mutations of various genes. The pathological features of CMT have mostly been investigated using nerve biopsy, which may shed light on the presumed functions of mutated gene products. PMP22 duplication in CMT1A induces numerous large onion bulb lesions (OB). Compared to chronic inflammatory demyelinating polyradiculoneuropathy, the differential features of CMT1A are patchy distribution of OB and non-inflammatory lesions. CMT1B also manifests as OB, but presents abnormal compaction of myelin sheaths caused by uncompacted myelin or excessive myelin folding. CMT2 includes axonal neuropathies and many causative genes have been found. CMT2A (MFN2 mutation) shows abnormal mitochondria with a spherical morphology instead of tubular in the longitudinal direction. CMT4 consists of autosomal recessive forms with demyelinating pathology. Most subtypes have mutations of genes relating to myelin maintenance, and pathologically, they show abnormal folding of the myelin structure.

  17. Saint Mary of Nazareth Hospital Center. Chicago, Illinois.

    PubMed

    1985-01-01

    Saint Mary of Nazareth Hospital has been serving the ethnic community on Chicago's near-northwest side since 1894. The city's first Polish hospital, it was founded by the Sisters of the Holy Family of Nazareth to care for many Polish immigrants who settled in the area. Although the surrounding neighborhood is now predominantly comprised of 56% hispanic, 9% black and 37% white ethnic residents, the hospital retains strong ties to the Polish community, as witnessed by a visit to Saint Marys by Cardinal Karol Wojtyla shortly before his election as Pope John Paul II. The hospital's first site was a vacant three-story brick apartment building which the Sisters remodeled into a 24-bed hospital. This facility was quickly outgrown, even after purchase of the two-story frame house next door which increased Saint Marys capacity to 44 beds. Eight years after its founding, a brand new hospital was built. Over the years, Saint Marys continued to experience steady growth requiring the periodic addition of new buildings and wings. By the early 1970s, the need for another brand-new facility was evident. In 1975, a new hospital opened, based on some of the Friesen supply concepts. Today, Saint Marys operates a nearby family practice center, a home health care service, a satellite lab and an intensive care emergency helicopter serving patients in a 120 mile radius.

  18. Auditory function in children with Charcot-Marie-Tooth disease.

    PubMed

    Rance, Gary; Ryan, Monique M; Bayliss, Kristen; Gill, Kathryn; O'Sullivan, Caitlin; Whitechurch, Marny

    2012-05-01

    The peripheral manifestations of the inherited neuropathies are increasingly well characterized, but their effects upon cranial nerve function are not well understood. Hearing loss is recognized in a minority of children with this condition, but has not previously been systemically studied. A clear understanding of the prevalence and degree of auditory difficulties in this population is important as hearing impairment can impact upon speech/language development, social interaction ability and educational progress. The aim of this study was to investigate auditory pathway function, speech perception ability and everyday listening and communication in a group of school-aged children with inherited neuropathies. Twenty-six children with Charcot-Marie-Tooth disease confirmed by genetic testing and physical examination participated. Eighteen had demyelinating neuropathies (Charcot-Marie-Tooth type 1) and eight had the axonal form (Charcot-Marie-Tooth type 2). While each subject had normal or near-normal sound detection, individuals in both disease groups showed electrophysiological evidence of auditory neuropathy with delayed or low amplitude auditory brainstem responses. Auditory perception was also affected, with >60% of subjects with Charcot-Marie-Tooth type 1 and >85% of Charcot-Marie-Tooth type 2 suffering impaired processing of auditory temporal (timing) cues and/or abnormal speech understanding in everyday listening conditions.

  19. 77 FR 25013 - Requested Administrative Waiver of the Coastwise Trade Laws: Vessel MARIE ELENA; Invitation for...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-26

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF TRANSPORTATION Maritime Administration Requested Administrative Waiver of the Coastwise Trade Laws: Vessel MARIE ELENA... the vessel MARIE ELENA is: Intended Commercial Use of Vessel: ``Sailboat passenger...

  20. 78 FR 14653 - Amendment of Class E Airspace; Sault Ste Marie, ON

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-07

    ... control zone over Sault Ste Marie Airport. The FAA is taking this action to enhance the safety and... Airport, Sault Ste Marie, ON, to coincide with that portion of the control zone in Canadian airspace....

  1. AmeriFlux US-MRf Mary's River (Fir) site

    DOE Data Explorer

    Law, Bev [Oregon State University

    2016-01-01

    This is the AmeriFlux version of the carbon flux data for the site US-MRf Mary's River (Fir) site. Site Description - The Marys River Fir site is part of the "Synthesis of Remote Sensing and Field Observations to Model and Understand Disturbance and Climate Effects on the Carbon Balance of Oregon and Northern California (ORCA)". Located in the western region of Oregon the Marys River site represents the western extent of the climate gradient that spans eastward into the semi-arid basin of central Oregon. The sites that make up the eastern extent of the ORCA climate gradient is the Metolius site network (US-Me1, US-ME2, US-ME4, US-Me5) all of which are part of the TERRA PNW project at Oregon State University.

  2. MARIE Dose and Flux Measurements in Mars Orbit

    NASA Technical Reports Server (NTRS)

    Zeitlin, C.; Cleghorn, T.; Cucinotta, F. A.; Saganti, P.; Andersen, V.; Lee, K. T.; Pinsky, L. S.; Turner, R.; Atwell, W.

    2004-01-01

    We present results from the Martian Radiation Environment Experiment (MARIE), aboard the 2001 Mars Odyssey spacecraft in orbit around Mars. MARIE operated successfully from March 2002 through October 2003. At the time of this writing, the instrument is off due to a loss of communications during an extremely intense Solar Particle Event. Efforts to revive MARIE are planned for Spring 2004, when Odyssey's role as a communications relay for the MER rovers is completed. During the period of successful operation, MARIE returned the first detailed energetic charged particle data from Mars. Due to limitations of the instrument, normalizing MARIE data to flux or dose is not straightforward - several large corrections are needed. Thus normalized results (like dose or flux) have large uncertainties and/or significant model-dependence. The problems in normalization are mainly due to inefficiency in detecting high-energy protons (signal-to-noise problems force the trigger threshold to be higher than optimal), to the excessively high gains employed in the signal processing electronics (many ions deposit energy sufficient to saturate the electronics, and dE/dx information is lost), and to artifacts associated with the two trigger detectors (incomplete registration of dE/dx). Despite these problems, MARIE is efficient for detecting helium ions with kinetic energies above about 30 MeV/nucleon, and for detecting high-energy ions (energies above about 400 MeV/nucleon) with charges from 5 to 10. Fluxes of these heavier ions can be compared to fluxes obtained from the ACE/CRIS instrument, providing at least one area of direct comparison between data obtained at Earth and at Mars; this analysis will be presented as a work in progress. We will also present dose-rate data, with a detailed explanation of the many sources of uncertainty in normalization. The results for both flux and dose will be compared to predictions of the HZETRN model of the GCR.

  3. ANESTHESIA FOR CHARCOT-MARIE-TOOTH DISEASE: CASE REPORT.

    PubMed

    Alzaben, Khalid R; Samarah, Omar Q; Obeidat, Salameh S; Halhouli, Oday; Al Kharabsheh, Murad

    2016-06-01

    Charcot-Marie-Tooth disease comprises a group of disorders characterized by progressive muscle weakness and wasting. Reviewing the anaesthetic literature produced conflicting reports about the best anaesthetic options for patients with CMTD; as they are at increased risk of prolonged response to muscle relaxants, malignant hyperthermia and risks of regional anaesthesia. We present a case of the successful use of total intravenous anaesthesia with dexmedetomidine and propofol combined with caudal block using bupivacaine mixed with dexmedetomidine without any complications, for a 17 year old male patient with Charcot Marie-Tooth disease who underwent a lower limb orthopedic surgery.

  4. 33 CFR 207.441 - St. Marys Falls Canal and Locks, Mich.; security.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false St. Marys Falls Canal and Locks... OF THE ARMY, DEPARTMENT OF DEFENSE NAVIGATION REGULATIONS § 207.441 St. Marys Falls Canal and Locks... the conduct of crew and passengers while transiting St. Marys Falls Canal and Locks and for...

  5. 33 CFR 207.440 - St. Marys Falls Canal and Locks, Mich.; use, administration, and navigation.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false St. Marys Falls Canal and Locks.... Marys Falls Canal and Locks, Mich.; use, administration, and navigation. (a) The use, administration... by radiotelephone to the Corps of Engineers Chief Lockmaster at St. Marys Falls Canal dispatch...

  6. Romanticism or Reality? An Exploration of Frances Mary Hendry's "Chandra."

    ERIC Educational Resources Information Center

    Johnson, Jilaine

    This paper singles out a novel written for children about India, "Chandra" (1995) by Frances Mary Hendry, as a powerful and useful novel to present to today's 11 to 14 year old students. The paper contends that the novel allows students to explore and consider different value systems, challenges them to become aware of prejudice and the…

  7. Collection Development Policy: Academic Library, St. Mary's University. Revised.

    ERIC Educational Resources Information Center

    Sylvia, Margaret

    This guide spells out the collection development policy of the library of St. Mary's University in San Antonio, Texas. The guide is divided into the following five topic areas: (1) introduction to the community served, parameters of the collection, cooperation in collection development, and priorities of the collection; (2) considerations in…

  8. The Rhetoric of Mary Daly: The Rhetoric of Naming.

    ERIC Educational Resources Information Center

    Larson, Suzanne

    As an initial step toward discovering whether a separate genre of women's rhetoric exists, this paper analyzes rhetorical forms used by Mary Daly in the book "Gyn/Ecology." The paper first outlines criteria for determining whether a form has rhetorical significance and traces the historical background of the contemporary feminist…

  9. Case Study of a College that Closed: Saint Mary's College

    ERIC Educational Resources Information Center

    Brown, Alice W.

    2011-01-01

    Few colleges choose to close. One that did was Saint Mary's College in Raleigh, North Carolina. Although trustees resisted for a decade, they ultimately made the decision before an anticipated denial of accreditation, allowing the college to control its final days in ways not possible for those who wait until an outside agency forces closure. This…

  10. Mary Somerville, mathematician and astronomer of underused talents

    NASA Astrophysics Data System (ADS)

    Bruck, M. T.

    1996-08-01

    Mary Somerville (1780-1872), self-taught mathematician, expert on theoretical astronomy and successful writer, has been described as `the most remarkable woman of her generation'. The publication of her mathematical treatise The Mechanism of the Heavens in 1831, followed by the more popular Connexion of the Physical Sciences in 1834, made her an international celebrity. Her life and work is described.

  11. Mary Petroline Lovato: Courage and Compassion Conquer Cancer.

    ERIC Educational Resources Information Center

    Yuhas, Stephanie

    1998-01-01

    A survivor of leukemia, Mary Lovato has used support groups, fundraising, and workshops to educate Pueblo and other Native people about treatment and management of cancer and has made significant progress in breaking the silence that surrounds the disease among her people. (SAS)

  12. William and Mary's President Exits on His Own Terms

    ERIC Educational Resources Information Center

    Fain, Paul

    2008-01-01

    The president and governing board at the College of William and Mary have parted ways in an unusually public split with a deeply partisan undercurrent. Gene R. Nichol says that the Board of Visitors forced him out for defending free speech and diversity on the campus, and that he turned down a generous severance package to go quietly. Board…

  13. Diaphragm weakness in Charcot-Marie-Tooth disease.

    PubMed Central

    Laroche, C M; Carroll, N; Moxham, J; Stanley, N N; Evans, R J; Green, M

    1988-01-01

    Two patients are described with Charcot-Marie-Tooth disease and chronic peripheral neuropathy. Both had dyspnoea, orthopnoea, and evidence of severe diaphragm weakness. Expiratory muscle function was well preserved and abnormalities of gas exchange during sleep were only minor. PMID:3420560

  14. Stirring the Waters: The Influence of Marie Clay.

    ERIC Educational Resources Information Center

    Gaffney, Janet S., Ed.; Askew, Billie J., Ed.

    Celebrating Marie Clay as a major theorist of child literacy acquisition, this book presents 15 essays by distinguished scholars that reflect on her contributions to the field of early literacy; early childhood, bilingual, and special education; developmental, cognitive, and school psychology; assessment; teacher education; professional…

  15. The "Special" Way: Mary Paxton and Her Journalism Degree.

    ERIC Educational Resources Information Center

    Flocke, Elizabeth Lynne

    The only woman in the first graduating class of the world's first school of journalism at the University of Missouri, Mary Paxton Keeley was offered a position as a special reporter for the "Kansas City Post" in 1910. As was typical for female journalists at the time, most of Paxton's assignments during her 15 months with the…

  16. Response to Mary J. Reichling, "Intersections: Form, Feeling, and Isomorphism"

    ERIC Educational Resources Information Center

    Stevenson, David

    2004-01-01

    David Stevenson's thoughts regarding Reichling's essay are offered in this article, and he begins his response by saying that Mary J. Reichling's essay regarding the three concepts, form, feeling, and isomorphism, is lucid, well structured, and aptly supported by research of other music education philosophers. He points out that Reichling states…

  17. Missionary Education in Colonial Africa: The Critique of Mary Kingsley.

    ERIC Educational Resources Information Center

    Pearce, Robert

    1988-01-01

    Discussing missionary education in colonial Africa, Pearce examines the ideas of Mary Kingsley, one of the major influences on British thinking towards Africa from the late 1890's. Focusing attention on her educational views, Pearce states that she had influence on all areas of British policy in Africa, and especially West Africa. (GEA)

  18. Lift as You Climb: A Profile of President Mary Vosevich

    ERIC Educational Resources Information Center

    Blumenthal, Anita

    2012-01-01

    "My thumb got me into this!" declares the new APPA President Mary Vosevich when asked how she entered the field of educational facilities management. It was 1984, and Vosevich, a Midwest native, was working at Monsanto in St. Louis as a research biologist, having earned her B.S. in horticulture/agriculture from the University of…

  19. 6. Photo copy of photograph, (original owned by Mary Gaudineer, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    6. Photo copy of photograph, (original owned by Mary Gaudineer, Beckley, WV, copy at National Forest Office, Elkins, WV), Don Gaudineer, 1934. CONSTRUCTION OF FERNOW EXPERIMENTAL FOREST BUNKHOUSE AND GARAGE. (see also historic photograph WV-237-13) - Parsons Nursery, Fernow Experimental Forest Residence, South side of U.S. Route 219, Parsons, Tucker County, WV

  20. Paying tribute to florence nightingale and Mary Seacole.

    PubMed

    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.

  1. The Mary Kay Way: The Feminization of a Corporate Discourse.

    ERIC Educational Resources Information Center

    Banks, Jane; Zimmerman, Patricia R.

    1987-01-01

    Investigates the strategies by which corporations adapt to social and cultural change. Argues that the contradiction between the ideology of the nuclear family and women's real needs for economic sustenance and autonomy are separated and deflected into a specific discursive strategy in the operation of Mary Kay Cosmetics. (JD)

  2. A Day in the Life of Mary Cassatt.

    ERIC Educational Resources Information Center

    Stoppel, Julie

    2002-01-01

    Offers a way to present art history to classroom students where the art teacher pretends to be an artist. Focuses on a lesson where the teacher pretended to be Mary Cassatt. States that the students used pastels when drawing their artwork, in conjunction with the art history lesson. (CMK)

  3. Mary E. Hall: Dawn of the Professional School Librarian

    ERIC Educational Resources Information Center

    Alto, Teresa

    2012-01-01

    A century ago, a woman named Mary E. Hall convinced school leaders of the need for the professional school librarian--a librarian who cultivated a love of reading, academic achievement, and independent learning skills. After graduating from New York City's Pratt Institute Library School in 1895, Hall developed her vision for the high school…

  4. Mari Belajar Sopan Santun Bahasa Indonesia. [Multimedia Kit

    ERIC Educational Resources Information Center

    DuFon, Margaret A.

    2004-01-01

    Filmed on location in East Java, Indonesia, the Mari Belajar Sopan Santun Bahasa Indonesia set consists of two videotapes, a manual, and extended notes on the individual video scenarios. The videos present interactions among Indonesian native speakers and foreign language learners as they engage in tasks and activities of everyday life. The…

  5. 77 FR 33094 - Safety Zone; International Bridge 50th Anniversary Celebration Fireworks, St. Mary's River, U.S...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-05

    ... Celebration Fireworks, St. Mary's River, U.S. Army Corps of Engineers Locks, Sault Sainte Marie, MI AGENCY..., Sault Sainte Marie, MI; in the Federal Register (77 FR 21893). We received 1 public submission... Locks, Sault Sainte Marie, MI; in the Federal Register (76 FR 22064). We received 1 public...

  6. Overview of environmental and hydrogeologic conditions at Saint Marys, Alaska

    USGS Publications Warehouse

    Nakanishi, Allan S.; Dorava, Joseph M.

    1994-01-01

    The Federal Aviation Administration (FAA) owns or operates airway support facilities near Saint Marys along the Yukon River in west-central Alaska. The FAA is evaluating the severity of environmental contamination and options for remediation of environmental contamination at their facilities. Saint Marys is on a flood plain near the continence of the Yukon and Andreafsky Rivers and has long cold winters and short summers. Residents obtain their drinking water from an infiltration gallery fed by a creek near the village. Surface spills and disposal of hazardous materials combined with potential flooding may affect the quality of the surface and ground water. Alternative drinking-water sources are available, but would likely cost more than existing supplies to develop.

  7. Experimental Physical Sciences Vistas: MaRIE (draft)

    SciTech Connect

    Shlachter, Jack

    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 security

  8. Unilateral opercular infarction presenting with Foix-Chavany-Marie syndrome

    PubMed Central

    Sá, Francisca; Menezes Cordeiro, Inês; Mestre, Susana; Nzwalo, Hipólito

    2014-01-01

    Foix-Chavany-Marie syndrome (FCMS) also known as bilateral anterior opercular syndrome is a form of suprabulbar palsy defined by the presence of bilateral voluntary facial, pharyngeal, lingual and masticatory paralysis with automatic–voluntary movement dissociation. We report an extremely rare case of FCMS in a patient with a unilateral left opercular lesion associated with a chronic asymptomatic contralateral cerebellar lesion. Despite intensive rehabilitation, little improvement was noticed at hospital discharge. PMID:25427932

  9. Jean-Marie Mariotti (1955 - 28 July 1998).

    NASA Astrophysics Data System (ADS)

    Léna, P.

    1998-09-01

    Jean-Marie Mariotti, head of the VLTI programme at ESO since the fall of 1997, passed away at the age of 43 on July 28 in Munich, taken by a sudden and acute leukaemia. Together with his wife, Françoise, and their children, Appolline and Octave (6 and 3 years old), a brief ceremony was held on July 31 at the Ost-Friedhof in Munich, attended by his family and a number of his ESO friends and colleagues.

  10. [The umbilical metastasis. Sister Mary Joseph and her time].

    PubMed

    Trebing, D; Göring, H-D

    2004-02-01

    Although Baluff in 1854 and Nelaton in 1860 had already described umbilical metastases, the best known description of the metastasis of carcinomas to this site as "trouser button navel" was published in 1928 by William James Mayo (1861-1939), son of William Worrall Mayo (1815-1911), the founder of the Mayo Clinic in Rochester, Minnesota, This phenomenon is supposed to have been pointed out to Mayo by his long-serving head surgical nurse Sister Mary Joseph (1856-1939). The English surgeon Hamilton Bailey, in his famous textbook "Physical Signs in Clinical Surgery" in 1949, coined the term "Sister Joseph's nodule" for an umbilical metastasis. The expression has become widely accepted and used. Sister Mary Joseph, daughter of Irish immigrants, belonged to the 3rd order of the Holy Francis, was distinguished for her skills, intelligence and devotion to nursing which was also her calling. She worked for many decades at the world-famous Mayo Clinic and taught generations of young nurses. In recent years, the original surgical building at Saint Mary's Hospital has been named "Joseph Building" in her memory. Among the numerous eponyms occurring in the dermatology and the medicine, the association with the name of a nurse represents beyond doubt a special feature.

  11. The Pasteurization of Marie Curie: A (meta)biographical experiment.

    PubMed

    Wirtén, Eva Hemmungs

    2015-08-01

    Biographies of scientists occupy a liminal space, highly popular with general readers but questioned in academia. Nonetheless, in recent years, historians of science have not only embraced the genre with more enthusiasm and less guilt, they have also turned to the metabiography in order to renew the study and story of scientists' roles. This essay focuses on Marie Curie, the world's most famous female scientist, in order to unpack some of the theoretical and methodological claims of the science biography, and especially to address the sexing mechanisms at play in the construction of the biographical subject. Pierre Curie (1923), Marie's biography of her husband Pierre, paid tribute to her dead husband and collaborator, but also allowed Curie a legitimate outlet to construct her own persona and legacy. Categories such as personhood, person, and persona are not only central to the biography genre but also are essential to the sense of self and self-fashioning of scientists. Looking at how Marie Curie negotiated these categories in Pierre Curie not only gives new insight into Curie's self-fashioning strategies but may also shed some light on the more general analytical lacunae of the science biography.

  12. View of 'Cape St. Mary' from 'Cape Verde' (Altered Contrast)

    NASA Technical Reports Server (NTRS)

    2006-01-01

    As part of its investigation of 'Victoria Crater,' NASA's Mars Exploration Rover Opportunity examined a promontory called 'Cape St. Mary' from the from the vantage point of 'Cape Verde,' the next promontory counterclockwise around the crater's deeply scalloped rim. This view of Cape St. Mary combines several exposures taken by the rover's panoramic camera into an approximately true-color mosaic with contrast adjusted to improve the visibility of details in shaded areas.

    The upper portion of the crater wall contains a jumble of material tossed outward by the impact that excavated the crater. This vertical cross-section through the blanket of ejected material surrounding the crater was exposed by erosion that expanded the crater outward from its original diameter, according to scientists' interpretation of the observations. Below the jumbled material in the upper part of the wall are layers that survive relatively intact from before the crater-causing impact. Near the base of the Cape St. Mary cliff are layers with a pattern called 'crossbedding,' intersecting with each other at angles, rather than parallel to each other. Large-scale crossbedding can result from material being deposited as wind-blown dunes.

    The images combined into this mosaic were taken during the 970th Martian day, or sol, of Opportunity's Mars-surface mission (Oct. 16, 2006). The panoramic camera took them through the camera's 750-nanometer, 530-nanometer and 430-nanometer filters.

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

    ClinicalTrials.gov

    2015-04-28

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

  14. [Ascorbic Acid and Charcot-Marie-Tooth Disease].

    PubMed

    Noto, Yu-ichi

    2015-10-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is a disease for which no drug treatments are available. Passage et al. reported that ascorbic acid reduced the mRNA level of PMP22, improved motor function and increased the numbers of myelinated peripheral nerve axons in a mouse model of CMT1A. Based on these results, five clinical trials were undertaken at different centers worldwide. However, none of them demonstrated significant effectiveness. Although these outcomes were disappointing, these studies have provided many useful insights for conducting the next randomised controlled trial for CMT1A.

  15. Remembering Joan (Jan) Mary Anderson (1932-2015).

    PubMed

    Chow, Wah Soon; Horton, Peter; Barrett, Martin; Osmond, Charles Barry

    2016-08-01

    Joan Mary Anderson, known to most people as Jan, was born on May 12, 1932 in Dunedin, New Zealand. She died on August 28, 2015 in Canberra, Australia. To celebrate her life, we present here a brief biography, some comments on her discoveries in photosynthesis during a career spanning more than half a century, and reminiscences from family and friends. We remember this wonderful person who had an unflagging curiosity, creative ability to think laterally, enthusiasm, passion, generosity and love of color and culture.

  16. Mary Wakefield: Health Resources and Services Administrator. Interview.

    PubMed

    Wakefield, Mary

    2014-06-01

    Dr. Mary Wakefield is the administrator of the Health Resources and Services Administration. She came from the University of North Dakota, where she directed the Center for Rural Health. She has served as director of the Center for Health Policy, Research and Ethics at George Mason University and has worked with the World Health Organization's Global Programme on AIDS in Geneva, Switzerland. She is a fellow in the American Academy of Nursing and was elected to the Institute of Medicine of the National Academies. A native of North Dakota, Wakefield holds a doctoral degree in nursing from the University of Texas.

  17. 7. Photocopy of photograph (original print in possession of Mary ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    7. Photocopy of photograph (original print in possession of Mary Lane Knott, 508 Central Avenue, Ridgely MD 21660). Photographer and date unknown, Circa 1900. VIEW EAST, SOUTHWEST FRONT, NORTHWEST SIDE Front and side elevations. Note the duplication of the recessed store front with display windows. Note the break in the original clapboard siding toward the rear on the Northwest side and the new clapboard siding near the buggy. Near the buggy wheel an original brick pier. Note the panelling below the display windows and the penny gumball machine on the wall marked 'Adams Tutti-Frutti'. - 510 Central Avenue (Commercial Building), Ridgely, Caroline County, MD

  18. The Mary Ingraham Bunting Institute of Radcliffe College.

    DTIC Science & Technology

    1992-08-31

    AD-A284 034 II~huI~ hI~iRADCLIFFE COLLEGE The Mary Ingraham Bunting Institute Radcliffe Research and Study Center 34 Concord Avenue, Cambridge...time sites for fellows’ work . The ninth fellow was writing her results into a book, and did not need a laboratory affiliation. Accesior For NrTS CRA...stipend, office, and research fund allow them to carry their work in the directions they choose, rather than making them deisndent on the projects

  19. Using the "Mary Tyler Moore Show" as a Feminist Teaching Tool

    ERIC Educational Resources Information Center

    Jule, Allyson

    2010-01-01

    This paper explores the use of "The Mary Tyler Moore Show" as a teaching tool used with a group of final-year undergraduate students who gathered together last academic year (2007-8) to explore Women in Leadership, as part of a Communications course. The research focus was: How can the use of "The Mary Tyler Moore Show" (a…

  20. Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.

    PubMed

    Johnson, Nicholas E; Heatwole, Chad R; Dilek, Nuran; Sowden, Janet; Kirk, Callyn A; Shereff, Denise; Shy, Michael E; Herrmann, David N

    2014-11-01

    This study determines the impact of symptoms associated with Charcot-Marie-Tooth disease on quality-of-life. Charcot-Marie-Tooth patients in the Inherited Neuropathies Consortium Rare Diseases Clinical Research Network Contact Registry were surveyed. The survey inquired about 214 symptoms and 20 themes previously identified as important to Charcot-Marie-Tooth patients through patient interviews. Symptom population impact was calculated as the prevalence multiplied by the relative importance of each symptom identified. Prevalence and symptom impact were analyzed by age, symptom duration, gender, Charcot-Marie-Tooth type, and employment status. 407 participants returned the survey, identifying foot and ankle weakness (99.7%) and impaired balance (98.6%) as the most prevalent themes. Foot and ankle weakness and limitations with mobility were the themes with the highest impact. Both symptom prevalence and impact gradually increased with age and symptom duration. Several themes were more prevalent in women with Charcot-Marie-Tooth, including activity limitations, pain, fatigue, hip-thigh weakness, and gastrointestinal issues. All of the themes, except emotional or body image issues, were more prevalent among unemployed individuals. There were minimal differences in symptom prevalence between Charcot-Marie-Tooth types. There are multiple symptoms that impact Charcot-Marie-Tooth quality-of-life in adults. These symptoms have different levels of importance, are readily recognized by patients, and represent critical areas of Charcot-Marie-Tooth health.

  1. "Does Broca's Area Exist?:" Christofredo Jakob's 1906 Response to Pierre Marie's Holistic Stance

    ERIC Educational Resources Information Center

    Tsapkini, Kyrana; Vivas, Ana B.; Triarhou, Lazaros C.

    2008-01-01

    In 1906, Pierre Marie triggered a heated controversy and an exchange of articles with Jules Dejerine over the localization of language functions in the human brain. The debate spread internationally. One of the timeliest responses, that appeared in print 1 month after Marie's paper, came from Christofredo Jakob, a Bavarian-born neuropathologist…

  2. Potential Hosts for Lambertella corni-maris and Phacidium lacerum within the Family Rosaceae

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  3. Use of FlUKA in the Analysis of the Mars Odyssey MARIE Experiment

    NASA Technical Reports Server (NTRS)

    Pinsky, Lawrence S.; Wilson, Thomas L; Andersen, Victor

    2006-01-01

    UH researchers have significantly improved the calibration of the MARIE by simulating its response to energetic protons using FLUKA. Analysis of MARIE data shows that the intensity of solar energetic particles depends strongly on how well the observation point is connected magnetically to the site at which the particles are accelerated.

  4. The Madonna's Reproduction(s): Mieville, Godard, and the Figure of Mary.

    ERIC Educational Resources Information Center

    Erb, Cynthia

    1993-01-01

    Discusses how an assessment of "Le Livre de Marie" and "Je Vous Salue, Marie" risks reproducing the feminine/masculine dynamic by posing the films as male and female versions of the Marian myth. Acknowledges that evidence for this dichotomy exists, but both directors succeed in activating the Marian myth in ways that do not…

  5. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ..., Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD....353 Atlantic Intracoastal Waterway, Savannah River to St. Marys River. (a) General. Public vessels of... Bridge, SR 204, mile 592.9 near Savannah. The draw will open as necessary on the hour from 7 a.m. to 9...

  6. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ..., Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD....353 Atlantic Intracoastal Waterway, Savannah River to St. Marys River. (a) General. Public vessels of... Bridge, SR 204, mile 592.9 near Savannah. The draw will open as necessary on the hour from 7 a.m. to 9...

  7. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ..., Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD....353 Atlantic Intracoastal Waterway, Savannah River to St. Marys River. (a) General. Public vessels of... Bridge, SR 204, mile 592.9 near Savannah. The draw will open as necessary on the hour from 7 a.m. to 9...

  8. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ..., Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD....353 Atlantic Intracoastal Waterway, Savannah River to St. Marys River. (a) General. Public vessels of... Bridge, SR 204, mile 592.9 near Savannah. The draw will open as necessary on the hour from 7 a.m. to 9...

  9. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ..., Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD....353 Atlantic Intracoastal Waterway, Savannah River to St. Marys River. (a) General. Public vessels of... Bridge, SR 204, mile 592.9 near Savannah. The draw will open as necessary on the hour from 7 a.m. to 9...

  10. "The Bravest of the Brave": A Conversation with Mary Bitterman and James Narduzzi

    ERIC Educational Resources Information Center

    Continuing Higher Education Review, 2008

    2008-01-01

    This article presents an interview with Mary Bitterman and James Narduzzi. Mary Bitterman, former President and CEO of The James Irvine Foundation, is President of The Bernard Osher Foundation and Immediate Past Chairman of the Public Broadcasting Service (PBS). James Narduzzi is Dean of the University of Richmond's School of Continuing Studies.…

  11. 33 CFR 161.45 - Vessel Traffic Service St. Marys River.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 33 Navigation and Navigable Waters 2 2013-07-01 2013-07-01 false Vessel Traffic Service St. Marys... SECURITY (CONTINUED) PORTS AND WATERWAYS SAFETY VESSEL TRAFFIC MANAGEMENT Vessel Traffic Service and Vessel Movement Reporting System Areas and Reporting Points § 161.45 Vessel Traffic Service St. Marys River....

  12. 75 FR 39956 - Certificate of Alternative Compliance for the Offshore Supply Vessel MARIE ELISE

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-13

    ... SECURITY Coast Guard Certificate of Alternative Compliance for the Offshore Supply Vessel MARIE ELISE... Alternative Compliance was issued for the offshore supply vessel MARIE ELISE as required by 33 U.S.C. 1605(c... Title 33, Code of Federal Regulation, Parts 81 and 89, has been issued for the offshore supply...

  13. 33 CFR 165.T09-0290 - Safety Zones; Blasting Operations and Movement of Explosives, St. Marys River, Sault Sainte Marie...

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ...″ N/084°20′40.81″ W; (NAD 83). (2) All U.S. navigable waters within a radius of 1,100 feet centered on... within a radius of 500 feet from the barge “M2” at any time the barge is involved in explosives loading... Movement of Explosives, St. Marys River, Sault Sainte Marie, MI. (a) Location. The following areas...

  14. A space radiation shielding model of the Martian radiation environment experiment (MARIE).

    PubMed

    Atwell, W; Saganti, P; Cucinotta, F A; Zeitlin, C J

    2004-01-01

    The 2001 Mars Odyssey spacecraft was launched towards Mars on April 7, 2001. Onboard the spacecraft is the Martian radiation environment experiment (MARIE), which is designed to measure the background radiation environment due to galactic cosmic rays (GCR) and solar protons in the 20-500 MeV/n energy range. We present an approach for developing a space radiation-shielding model of the spacecraft that includes the MARIE instrument in the current mapping phase orientation. A discussion is presented describing the development and methodology used to construct the shielding model. For a given GCR model environment, using the current MARIE shielding model and the high-energy particle transport codes, dose rate values are compared with MARIE measurements during the early mapping phase in Mars orbit. The results show good agreement between the model calculations and the MARIE measurements as presented for the March 2002 dataset.

  15. A space radiation shielding model of the Martian radiation environment experiment (MARIE)

    NASA Technical Reports Server (NTRS)

    Atwell, W.; Saganti, P.; Cucinotta, F. A.; Zeitlin, C. J.

    2004-01-01

    The 2001 Mars Odyssey spacecraft was launched towards Mars on April 7, 2001. Onboard the spacecraft is the Martian radiation environment experiment (MARIE), which is designed to measure the background radiation environment due to galactic cosmic rays (GCR) and solar protons in the 20-500 MeV/n energy range. We present an approach for developing a space radiation-shielding model of the spacecraft that includes the MARIE instrument in the current mapping phase orientation. A discussion is presented describing the development and methodology used to construct the shielding model. For a given GCR model environment, using the current MARIE shielding model and the high-energy particle transport codes, dose rate values are compared with MARIE measurements during the early mapping phase in Mars orbit. The results show good agreement between the model calculations and the MARIE measurements as presented for the March 2002 dataset. c2003 COSPAR. Published by Elsevier Ltd. All rights reserved.

  16. 33 CFR 165.731 - Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River Entrance Channel.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... Sound, Georgia and St. Marys River Entrance Channel. 165.731 Section 165.731 Navigation and Navigable... Seventh Coast Guard District § 165.731 Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River... waters and land from bank to bank within Cumberland Sound and the St. Marys Entrance Channel:...

  17. 33 CFR 165.731 - Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River Entrance Channel.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... Sound, Georgia and St. Marys River Entrance Channel. 165.731 Section 165.731 Navigation and Navigable... Seventh Coast Guard District § 165.731 Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River... waters and land from bank to bank within Cumberland Sound and the St. Marys Entrance Channel:...

  18. 33 CFR 165.731 - Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River Entrance Channel.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Sound, Georgia and St. Marys River Entrance Channel. 165.731 Section 165.731 Navigation and Navigable... Seventh Coast Guard District § 165.731 Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River... waters and land from bank to bank within Cumberland Sound and the St. Marys Entrance Channel:...

  19. 33 CFR 165.731 - Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River Entrance Channel.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... Sound, Georgia and St. Marys River Entrance Channel. 165.731 Section 165.731 Navigation and Navigable... Seventh Coast Guard District § 165.731 Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River... waters and land from bank to bank within Cumberland Sound and the St. Marys Entrance Channel:...

  20. Antoni Quintana-Mari (1907-1998): A Pioneer of the Use of History of Science in Science Education

    ERIC Educational Resources Information Center

    Roca-Rosell, Antoni; Grapi-Vilumara, Pere

    2010-01-01

    In the early 1930s, the young Antoni Quintana-Mari undertook some research on Antoni de Marti i Franques, one of the most prominent Catalan scientists of the Enlightenment. This scientist worked in Tarragona, where Quintana-Mari lived. Quintana-Mari learnt about Marti i Franques from Josep Estalella, his teacher of physics and chemistry at the…

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

    PubMed

    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.

  2. St. Mary cooks up awareness with heart-healthy booklet, television.

    PubMed

    Botvin, Judith D

    2003-01-01

    St. Mary Medical Center, Langhorne, Pa., distributed a half-million copies of its copyrighted booklet, "Heart Healthy Living" as the first of a larger, long-term marketing initiative to raise awareness of the suburban medical center. In addition to the medical center and physicians' offices, St. Mary had the booklet distributed by regional food markets and Fleet Bank. These partnerships and those with food products manufacturers helped reduce expenses. St. Mary physicians appeared on a cable television cooking show as well as in selected grocery markets.

  3. MaRIE: Probing Dynamic Processes in Soft Materials Using Advanced Light Sources

    SciTech Connect

    Sykora, Milan; Kober, Edward Martin

    2016-02-16

    Los Alamos National Laboratory has developed a concept for a new research facility, MaRIE: Matter-Radiation Interactions in Extremes. The key motivation for MaRIE is to develop new experimental capabilities needed to fill the existing gaps in our fundamental understanding of materials important for key National Nuclear Security Agency (NNSA) goals. MaRIE will bring two major new capabilities: (a) the ability to characterize the meso- and microstructure of materials in bulk as well as local dynamic response characteristics, and (b) the ability to characterize how this microstructure evolves under NNSA-relevant conditions and impacts the material’s performance in this regime.

  4. The lives of Mary Foote: painter and Jungian.

    PubMed

    Trousdell, Richard

    2016-11-01

    Mary Foote (1872-1968) was a successful early twentieth century American artist who suddenly closed her New York studio in 1926 to go to Zurich to study with Jung. There she joined his 'Interpretation of Visions' seminars (1930-1934), which she recorded and edited. This work won Jung's praise and his friendship, but all too often Foote was seen merely as a secretary or background figure. Deirdre Bair's biography of Jung suggested that Foote's life and work deserved fuller study, if only to rebalance our view of Jung's early women followers. This paper takes up that work to ask how Foote's early life and career led to her important work in preserving and describing Jung's earliest attempts to apply his theories to clinical practice.

  5. Unilateral opercular infarction presenting with Foix-Chavany-Marie Syndrome.

    PubMed

    Ohtomo, Ryo; Iwata, Atsushi; Tsuji, Shoji

    2014-01-01

    A 76-year-old man with a history of pontine, cerebellar infaction suddenly became speechless during the procedure of percutaneous coronary intervention. On examination, he was unable to close his mouth voluntarily, but spontaneous closing was preserved when smiling. He had anarthria and hypophonia, although his comprehension was preserved. He also had a severe dysphagia. Radiological studies revealed an acute stroke in the left anterior operculum, indicating Foix-Chavany-Marie Syndrome (FCMS) caused by a unilateral opercular lesion. Pathophysiology of the previous cases reported as unilateral FCMS remains controversial, but in our case, it could be delineated by the combination of the new lesion in the unilateral operculum and the old one in the contralateral pons. Since FCMS is not only related to biopercular lesions, we should consider thorough radiologic examination to clarify its anatomic basis.

  6. Therapeutic options in Charcot-Marie-Tooth diseases.

    PubMed

    Mathis, Stéphane; Magy, Laurent; Vallat, Jean-Michel

    2015-04-01

    Charcot-Marie-Tooth (CMT) diseases represent a heterogeneous genetic disorder (more than 80 genes are implicated in these inherited neuropathies), but sharing a similar phenotype. In recent years, advances in molecular genetics and molecular biology, and also the development of various animal models of CMT, have led to a better understanding. Taken together, this knowledge represents a prerequisite for the development of future therapies in CMT, and in peripheral nervous system disorders in general. The efficacy of various substances has been shown in vitro and also in vivo (in animal models); but, no significant positive effect has yet been confirmed in humans. However, some of these trials are still in development, and we may expect positive results in the future. Although CMT is still an incurable disease, symptomatic treatments (physiotherapy, surgery, analgesic, etc.) are crucial to improve the quality of life of CMT patients.

  7. Bandwidth efficient block codes for M-ary PSK modulation

    NASA Technical Reports Server (NTRS)

    Lin, Shu

    1987-01-01

    A class of bandwidth efficient block codes for M-ary PSK modulation is presented. A soft-decision decoding for this class of codes is devised. Some specific short codes for Quad Phase Shift Key (QPSK), 8-PSK and 16-PSK modulations are constructed. These codes have good minimum squared Euclidean distances and provide 2 to 5.8 dB coding gains over uncoded QPSK modulation without (or with little) bandwidth expansion. The complete weight distributions of these specific codes are determined. Based on these weight distributions, their error probabilities are evaluated. Some of these codes have simple trellis structures and hence can be decoded by Viterbi decoding algorithm with relatively simple implementation. Moreover, the codes are very suitable for use as inner codes for various cascaded coding schemes with Reed-Solomon codes as outer codes.

  8. Sister Mary Joseph's nodule as initial pancreatic cancer manifestation.

    PubMed

    Vallejo Bernad, Cristina; Casamayor Franco, María Carmen; Hakim Alonso, Sofía

    2017-02-01

    We report the case of an 85-year-old female patient who presented with umbilical pain associated with an indurated growth, the whole being apparently consistent with incarcerated umbilical hernia, which prompted an urgent surgical procedure for its removal. The pathology study revealed dermal infiltration by a malignancy. Gland tumor cells expressed an immunohistochemical profile initially consistent with a pancreatic origin. In view of these findings a CT scan was performed, which revealed a pancreatic tail tumor as well as multiple hepatic metastasis. Skin metastasis is a rare sign usually reflecting a carcinoma of unknown origin. Umbilical skin metastasis, called Sister Mary Joseph´s nodule, reflect an intra-abdominal tumor, being pancreatic cancer strange.

  9. Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease.

    PubMed

    Eltawansy, Sherif Ali; Bakos, Andrea; Checton, John

    2015-01-01

    We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI. Noncompaction cardiomyopathy (also known as ventricular hypertrabeculation) is a newly discovered disease. It is considered to be congenital (genetic) cardiomyopathy. It is usually associated with genetic disorders and that could explain the genetic pathogenesis of the non-compaction cardiomyopathy. Our case had a history of Charcot-Marie-Tooth disease. There is a high incidence of arrhythmia and embolic complications. The treatment usually consists of the medical management, defibrillator placement, and lifelong anticoagulation. Heart transplantation will be the last resort.

  10. A m-ary linear feedback shift register with binary logic

    NASA Technical Reports Server (NTRS)

    Perlman, M. (Inventor)

    1973-01-01

    A family of m-ary linear feedback shift registers with binary logic is disclosed. Each m-ary linear feedback shift register with binary logic generates a binary representation of a nonbinary recurring sequence, producible with a m-ary linear feedback shift register without binary logic in which m is greater than 2. The state table of a m-ary linear feedback shift register without binary logic, utilizing sum modulo m feedback, is first tubulated for a given initial state. The entries in the state table are coded in binary and the binary entries are used to set the initial states of the stages of a plurality of binary shift registers. A single feedback logic unit is employed which provides a separate feedback binary digit to each binary register as a function of the states of corresponding stages of the binary registers.

  11. 77 FR 49719 - Amendment of Class D Airspace; Sault Ste Marie, ON

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-17

    ... control zone over Sault Ste Marie Airport. The FAA is taking this action to enhance the safety and..., creating additional controlled airspace to coincide with that portion of the control zone in...

  12. Mediated Career Education at the Marie H. Katzenbach School for the Deaf

    ERIC Educational Resources Information Center

    Lenox, James; Hamilton, Ronald

    1973-01-01

    A comprehensive career education program which uses varieties of audiovisual aids for aurally handicapped students, 4 through 21 years of age, at the Marie H. Katzenbach School for the Deaf is described. (MC)

  13. Winter Fish Populations in Probable Locations of Air Bubblers in the St. Marys River-Lake Superior Area

    DTIC Science & Technology

    1980-09-01

    macrobenthos communities of St. Marys River, Lake Superior and Lake Huron ." 2. A reconnaissance trip in October 1979 was used to test sampling gear and...Marys River, Lake Superior and Lake Huron . D - cological Effects of Air bubblers in the Winter, a Partially Annotated Bibliography. Acoession For NTTS...8217 APPENDIX C Ar,’JOTATED BIBLIOGRAPHY ON WINTER FISH AND MACROBENTHOS COMMUNITIES OF ST. MARYS RIVER, LAKE SUPERIOR AND LAKE HURON ANNOTATED BIBLIOGRAPHY ON

  14. The shifting paradigm of Charcot-Marie-Tooth disease.

    PubMed

    Echaniz-Laguna, A

    2015-01-01

    Molecular studies have created a paradigm shift in our perception of Charcot-Marie-Tooth disease (CMT). Indeed, CMT has evolved from the concept of a rather homogeneous hereditary disease exclusively involving peripheral nerves to the concept of a highly heterogeneous clinical and genetic syndrome mainly - but sometimes not exclusively - involving the peripheral nervous system. The phenotypic spectrum of CMT overlaps with other inherited neuropathies such as distal hereditary motor neuropathy (dHMN), hereditary sensory and autonomic neuropathy (HSAN), spinal muscular atrophy (SMA) subtypes, and the neuropathies of mitochondrial disorders. At a molecular level, mutations in one given gene may alternatively provoke CMT, HSAN, dHMN or SMA variants. Over the last years, there have been dramatic advances in deciphering the molecular basis for many CMT subtypes and more than 900 different mutations in more than 60 causative genes are now described. However, as 75% of CMT causative genes apparently remain unknown and as disease-specific therapies are not available, major advances are yet to come in the field of CMT.

  15. Systematic review of exercise for Charcot-Marie-Tooth disease.

    PubMed

    Sman, Amy D; Hackett, Daniel; Fiatarone Singh, Maria; Fornusek, Ché; Menezes, Manoj P; Burns, Joshua

    2015-12-01

    Charcot-Marie-Tooth disease (CMT) is a slowly progressive hereditary degenerative disease and one of the most common neuromuscular disorders. Exercise may be beneficial to maintain strength and function for people with CMT, however, no comprehensive evaluation of the benefits and risks of exercise have been conducted. A systematic review was completed searching numerous electronic databases from earliest records to February 2015. Studies of any design including participants of any age with confirmed diagnosis of CMT that investigated the effects of exercise were eligible for inclusion. Of 13,301 articles identified following removal of duplicates, 11 articles including 9 unique studies met the criteria. Methodological quality of studies was moderate, sample sizes were small, and interventions and outcome measures used varied widely. Although the majority of the studies identified changes in one or more outcome measurements across exercise modalities, the majority were non-significant, possibly due to Type II errors. Significant effects described included improvements in strength, functional activities, and physiological adaptations following exercise. Despite many studies showing changes in strength and function following exercise, findings of this review should be met with caution due to the few studies available and moderate quality of evidence. Well-powered studies, harmonisation of outcome measures, and clearly described interventions across studies would improve the quality and comparability of the evidence base. The optimal exercise modality and intensity for people with CMT as well as the long-term safety of exercise remain unclear.

  16. ACQUIRED PES CAVUS IN CHARCOT-MARIE-TOOTH DISEASE.

    PubMed

    Carvalho Maranho, Daniel Augusto; Volpon, José Batista

    2009-01-01

    Hereditary motor and sensory neuropathies, especially Charcot-Marie-Tooth disease, are frequently expressed with an acquired cavusvarus foot which is characterized by a fixed increase of the plantar arch and hindfoot inversion. Diagnosis of the underlying condition achieved through careful patient assessment and local evaluations is the keystone for decision-making about the adequate treatment. The cavus may present as an isolated deformity of the forefoot, hindfoot or it may be a combination of both locations. Related deformities, mainly the varus and toe clawing require appropriate evaluation; clinical characteristics such as severity of the deformity, impairment of the muscular power, flexibility and patient's age are important characteristics in the treatment decision. Conservative treatment of the cavusvarus foot with physiotherapy, insoles and shoe modifications are reserved to young patients and mild deformities. However, there is a tendency of the deformity to become more severe over time because of the progressive feature of the underlying neurological condition. So, the surgical treatment by using classical techniques is performed in early stages. Most importantly is the identification of the primary and main components of each deformity to properly correct them, if possible. Muscular transfers are used to treat the dynamic unbalance, retracted structures should be either divided or lengthened and localized osteotomies should be preferred over arthrodeses, which are reserved for stiff and severely deformed feet in adults.

  17. The contribution of women to radiobiology: Marie Curie and beyond.

    PubMed

    Gasinska, Anna

    2016-01-01

    Marie Sklodowska-Curie, an extraordinary woman, a Polish scientist who lived and worked in France, led to the development of nuclear energy and the treatment of cancer. She was the laureate of two Nobel Prizes, the first woman in Europe who obtained the degree of Doctor of Science and opened the way for women to enter fields which had been previously reserved for men only. As a result of her determination and her love of freedom, she has become an icon for many female scientists active in radiation sciences. They are successors of Maria Curie and without the results of their work, improvement in radiation oncology will not be possible. Many of them shared some elements of Maria Curie's biography, like high ethical and moral standards, passionate dedication to work, strong family values, and scientific collaboration with their husbands. The significance of Tikvah Alper, Alma Howard, Shirley Hornsey, Juliana Denekamp, Helen Evans, Eleanor Blakely, Elizabeth L. Travis, Fiona Stewart, Andree Dutreix, Catharine West, Peggy Olive, Ingela Turesson, Penny Jeggo, Irena Szumiel, Eleonor Blakely, Sara Rockwell and Carmel Mothersill contribution to radiation oncology is presented. All the above mentioned ladies made significant contribution to the development of radiotherapy (RT) and more efficient cancer treatment. Due to their studies, new schedules of RT and new types of ionizing radiation have been applied, lowering the incidence of normal tissue toxicity. Their achievements herald a future of personalized medicine.

  18. Mary Lyon and the hypothesis of random X chromosome inactivation.

    PubMed

    Harper, Peter S

    2011-08-01

    The 50th anniversary of Mary Lyon's 1961 Nature paper, proposing random inactivation in early embryonic life of one of the two X chromosomes in the cells of mammalian females, provides an opportunity to remember and celebrate the work of those involved. While the hypothesis was initially put forward by Lyon based on findings in the mouse, it was founded on earlier studies, notably the work of Susumu Ohno; it was also suggested independently by Beutler and colleagues using experimental evidence from a human X-linked disorder, glucose-6-phosphate dehydrogenase deficiency, and has proved to be of as great importance for human and medical genetics as it has for general mammalian genetics. Alongside the hypothesis itself, previous cytological studies of mouse and human chromosomes, and the observations on X-linked mutants in both species deserve recognition for their essential role in underpinning the hypothesis of random X-inactivation, while subsequent research on the X-inactivation centre and the molecular mechanisms underlying the inactivation process represent some of the most outstanding contributions to human and wider mammalian genetics over the past 50 years.

  19. ACQUIRED PES CAVUS IN CHARCOT-MARIE-TOOTH DISEASE

    PubMed Central

    Carvalho Maranho, Daniel Augusto; Volpon, José Batista

    2015-01-01

    Hereditary motor and sensory neuropathies, especially Charcot-Marie-Tooth disease, are frequently expressed with an acquired cavusvarus foot which is characterized by a fixed increase of the plantar arch and hindfoot inversion. Diagnosis of the underlying condition achieved through careful patient assessment and local evaluations is the keystone for decision-making about the adequate treatment. The cavus may present as an isolated deformity of the forefoot, hindfoot or it may be a combination of both locations. Related deformities, mainly the varus and toe clawing require appropriate evaluation; clinical characteristics such as severity of the deformity, impairment of the muscular power, flexibility and patient's age are important characteristics in the treatment decision. Conservative treatment of the cavusvarus foot with physiotherapy, insoles and shoe modifications are reserved to young patients and mild deformities. However, there is a tendency of the deformity to become more severe over time because of the progressive feature of the underlying neurological condition. So, the surgical treatment by using classical techniques is performed in early stages. Most importantly is the identification of the primary and main components of each deformity to properly correct them, if possible. Muscular transfers are used to treat the dynamic unbalance, retracted structures should be either divided or lengthened and localized osteotomies should be preferred over arthrodeses, which are reserved for stiff and severely deformed feet in adults. PMID:27077056

  20. Princess Marie Bonaparte, Edgar Allan Poe, and psychobiography.

    PubMed

    Warner, S L

    1991-01-01

    Princess Marie Bonaparte was a colorful yet mysterious member of Freud's inner circle of psychoanalysis. In analysis with Freud beginning in 1925 (she was then 45 years old), she became a lay analyst and writer of many papers and books. Her most ambitious task was a 700-page psychobiography of Edgar Allan Poe that was first published in French in 1933. She was fascinated by Poe's gothic stories--with the return to life of dead persons and the eerie, unexpected turns of events. Her fascination with Poe can be traced to the similarity of their early traumatic life experiences. Bonaparte had lost her mother a month after her birth. Poe's father deserted the family when Edgar was two years old, and his mother died of tuberculosis when he was three. Poe's stories helped him to accommodate to these early traumatic losses. Bonaparte vicariously shared in Poe's loss and the fantasies of the return of the deceased parent in his stories. She was sensitive and empathetic to Poe's inner world because her inner world was similar. The result of this psychological fit between Poe and Bonaparte was her psychobiography, The Life and Works of Edgar Allan Poe. It was a milestone in psychobiography but limited in its psychological scope by its strong emphasis on early childhood trauma. Nevertheless it proved Bonaparte a bona fide creative psychoanalyst and not a dilettante propped up by her friendship with Freud.

  1. Current Therapy for Charcot-Marie-Tooth Disease.

    PubMed

    Grandis, Marina; Shy, Michael E

    2005-01-01

    Charcot-Marie-Tooth (CMT), or heritable peripheral neuropathies, is among the most frequent genetic neuromuscular disorders, with a prevalence of approximately 1:2500. Since 1991, remarkable advances have occurred in determining the precise genetic cause of many forms of CMT and in generating animal models of many of these disorders. However, these advances have not yet resulted in cures for CMT. Recently, potential treatments for the most common form of CMT, CMT-1A, have been shown in rodent models of the disorder. Treatment with onapristone, a progesterone antagonist, has improved the neuropathy of the CMT-1A rat. Treatment with large doses of ascorbic acid (vitamin C) has improved the neuropathy of the CMT-1A mouse. Multicentric trials with ascorbic acid are likely to start in the near future to assess if vitamin C supplementation is effective and what is the dosage required in humans to improve neurologic disability. Because of potential side effects with antiprogesterone therapy, particularly in women of child- bearing age, research is actively proceeding with progesterone antagonists to develop safe medications that also can be used in clinical trials of CMT-1A. Although no cures are available for CMT, there are many important treatments available for patients with CMT that can improve their quality of life and help them maintain their independence. Some of these therapies involve physiatry and orthopedic surgery. Others involve pain management. Lastly, there are potential concerns about medications or lifestyle issues that may exacerbate CMT. All of these issues will be discussed.

  2. Ecology and Mary: An Ecological Theology of Mary as the New Eve in Response to the Church's Challenge for a Faith-Based Education in Ecological Responsibility

    ERIC Educational Resources Information Center

    Thurmond, Gloria J.

    2007-01-01

    The Church's interpretation of the current ecological crisis as a moral crisis is the catalyst for this essay, which proposes a newly constructed faith-based model for ecological dialogue and education. The exploration and reinterpretation of the traditional Church doctrine of the Virgin Mary as the new Eve provides a theme from which an…

  3. M-Ary Alpha-Stable Noise Modulation in Spread-Spectrum Communication

    NASA Astrophysics Data System (ADS)

    Cek, Mehmet Emre

    2015-04-01

    In this paper, a spread-spectrum communication system based on a random carrier is proposed which transmits M-ary information. The random signal is considered as a single realization of a random process taken from prescribed symmetric α-stable (SαS) distribution that carries digital M-ary information to be transmitted. Considering the noise model in the channel as additive white Gaussian noise (AWGN), the transmitter sends the information carrying random signal from non-Gaussian density. Alpha-stable distribution is used to encode the M-ary message. Inspired by the chaos shift keying techniques, the proposed method is called M-ary symmetric alpha-stable differential shift keying (M-ary SαS-DSK). The main purpose of preferring non-Gaussian noise instead of conventional pseudo-noise (PN) sequence is to overcome the drawback of self-repeating noise-like sequences which are detectable due to the periodic behavior of the autocorrelation function of PN sequences. Having infinite second order moment in α-stable random carrier offers secrecy of the information due to the non-constant autocorrelation behavior. The bit error rate (BER) performance of the proposed method is illustrated by Monte Carlo simulations with respect to various characteristic exponent values and different data length.

  4. Marie Curie nurses: enabling patients with cancer to die at home.

    PubMed

    Higginson, Irene J; Wilkinson, Susie

    2002-05-01

    Marie Curie Cancer Care established its nursing service in 1958; however, the service has had little formal evaluation. This study aimed to describe and evaluate the care provided by Marie Curie nurse, and in particular to determine whether patients in their care remained and died at home. Two existing data sets were used: data on all patients referred to the Marie Curie Nursing Services in 147 areas of England, Wales, Scotland and Northern Ireland for 26 months, and data on cancer death registrations in England. A request for a Marie Curie nurse was made for 26,632 patients, 97% of whom had cancer and 11% of whom lived alone. The amount of care provided varied enormously (<1 hour-2862 hours), although the vast majority of patients less than 300 hours of nursing care. Place of death was recorded for only half these patients; 94% died at home, 2.5% in a hospice, 2.3% in a hospital, 0.2% in a nursing home and 0.6% other. Home death was most often associated with patients receiving medication via a syringe driver, patients living with other people, patients with cancer, other than prostate cancer, shorter time between referral and death and younger age. The results lend support to the theory that the care given to patients in their homes by Marie Curie nurses facilitated home death for many patients. Services need to ensure that mechanisms are in place to achieve data collection. Rigorous prospective evaluation is needed in the future.

  5. Geology of the Lake Mary quadrangle, Iron County, Michigan

    USGS Publications Warehouse

    Bayley, Richard W.

    1959-01-01

    The Lake Mary quadrangle is in eastern Iron County, in the west part of the Upper Peninsula of Michigan. The quadrangle is underlain by Lower and Middle Precambrian rocks, formerly designated Archean and Algonkian rocks, and is extensively covered by Pleistocene glacial deposits. A few Upper Precambrian (Keweenawan) diabase dikes and two remnants of sandstone and dolomite of early Paleozoic age are also found in the area. The major structural feature is the Holmes Lake anticline, the axis of which strikes northwest through the northeast part of the quadrangle. Most of the quadrangle, therefore, is underlain by rock of the west limb of the anticline. To the northwest along the fold axis, the Holmes Lake anticline is separated from the Amasa oval by a saddle of transverse folds in the vicinity of Michigamme Mountain in the Kiernan quadrangle. The Lower Precambrian rocks are represented by the Dickinson group and by porphyritic red granite whose relation to the Dickinson group is uncertain, but which may be older. The rocks of the Dickinson group are chiefly green to black metavolcanic schist and red felsite, some of the latter metarhyolite. The dark schist is commonly magnetic. The Dickinson group underlies the core area of the Holmes Lake anticline, which is flanked by steeply dipping Middle Precambrian formations of the Animikie series. A major unconformity separates the Lower Precambrian rocks from the overlying Middle Precambrian rocks. In ascending order the formations of the Middle Precambrian are the Randville dolomite, the Hemlock formation, which includes the Mansfield iron-bearing slate member, and the Michigamme slate. An unconformity occurs between the Hemlock formation and Michigamme slate. The post-Hemlock unconformity is thought to be represented in the Lake Mary quadrangle by the absence of iron-formation of the Amasa formation, which is known to lie between the Hemlock and the Michigamme to the northwest of the Lake Mary quadrangle in the Crystal

  6. Evaluating Marie Byrd Land stability using an improved basal topography

    NASA Astrophysics Data System (ADS)

    Holschuh, N.; Pollard, D.; Alley, R. B.; Anandakrishnan, S.

    2014-12-01

    Prior understanding of the ice-sheet setting in Marie Byrd Land (MBL) was derived primarily from geologic and geochemical studies of the current nunataks, with very few geophysical surveys imaging the ice covered regions. The geologic context suggested that the ice rests on a broad regional high, in contrast to the deep basins and trenches that characterize the majority of West Antarctica. This assumed topography would favor long-term stability for the West Antarctic Ice Sheet (WAIS) in MBL. Airborne geophysical data collected in 2009 reveal a much deeper bed than previously estimated, including a significant trough underlying DeVicq Glacier and evidence for extensive glacial erosion. Using these data, we produce a new map of subglacial topography, with which we model the sensitivity of WAIS to a warming ocean using the ice-sheet model of Pollard and DeConto (2012b). We compare the results to estimates of ice loss during WAIS collapse using the previously defined subglacial topography, to determine the impact of the newly discovered subglacial features. Our results indicate that the topographic changes are not sufficient to destabilize the northern margin of MBL currently feeding the Getz Ice Shelf; the majority of ice loss occurs from flow toward the Siple Coast. However, despite only slight dynamic differences, using the new bed as a boundary condition results in an additional 8 cm of sea-level rise during major glacial retreat, an increase of just over 2%. Precise estimation of past and future ice retreat, as well as a complete understanding of the geologic history of the region, will require a higher resolution picture of the bed topography around the Executive Committee mountains.

  7. Contaminant dispersion at the rehabilitated Mary Kathleen uranium mine, Australia

    NASA Astrophysics Data System (ADS)

    Lottermoser, B. G.; Ashley, P. M.; Costelloe, M. T.

    2005-09-01

    This study reports on the transfer of contaminants from waste rock dumps and mineralised ground into soils, sediments, waters and plants at the rehabilitated Mary Kathleen uranium mine in semi-arid northwest Queensland. Numerous waste rock dumps were partly covered with benign soil and the open pit mine was allowed to flood. The mineralised and waste calc-silicate rock in the open pit and dumps has major (>1 wt%) Ca, Fe and Mg, minor (>1,000 ppm) Ce, La, Mn, P and S, subminor (>100 ppm) Ba, Cu, Th and U, and trace (<100 ppm) As, Ni, Pb, Y and Zn values. Consequently, chemical and physical weathering processes have acted on waste rock and on rock faces within the open pit, mobilising many elements and leading to their dispersion into soils, stream sediments, pit water and several plant species. Chemical dispersion is initiated by sulfide mineral breakdown, generation of sulfuric acid and formation of several soluble, transient sulfate minerals as evaporative efflorescent precipitates. Radiation doses associated with the open pit average 5.65 mSv year-1; waste dumps commonly have lower values, especially where soil-covered. Surface pit water is slightly acid, with high sulfate values accompanied by levels of U, Cu and Ni close to or above Australian water guideline values for livestock. Dispersion of U and related elements into soils and stream sediments occurs by physical (erosional) processes and from chemical precipitation. Plants growing in the mine void, on waste dumps and contaminated soil display evidence of biological uptake of U, LREE, Cu and Th and to a lesser degree of As, Ni, Pb, Y and Zn, with values being up to 1-2 orders of magnitude above background sites for the same species. Although rehabilitation procedures have been partly successful in reducing dispersion of U and related elements into the surrounding environment, it is apparent that 20 years after rehabilitation, there is significant physical and chemical mobility, including transfer into

  8. MARIE: Current Status and Results from 20 Months of Observations at Mars

    NASA Technical Reports Server (NTRS)

    Zeitlin, C.; Andersen, V.; Atwell, W.; Cleghorn, T. F.; Cucinotta, F. A.; Lee, K. T.; Pinsky, L.; Saganti, P.

    2004-01-01

    The MARIE instrument aboard the 2001 Mars Odyssey spacecraft detects energetic charged particles in the Galactic Cosmic Radiation (GCR) and during solar particle events (SPE) [1]. As of this writing (January 2004), MARIE has been turned off, after losing communication with the spacecraft during the large SPE of October 28, 2003. However, during the prior 20 months, MARIE collected data almost continuously, observing several solar events and the nearly-constant GCR. There is still a possibility the instrument can be recovered, and troubleshooting efforts are scheduled to begin in May 2004, following the completion of the primary missions of MER-A (Spirit) and MER-B (Opportunity). At present, Odyssey is acting as a telecommunications relay for the rovers and only routine science operations are permitted in this mode.

  9. Using superconducting undulator for enhanced imaging capabilities of MaRIE

    SciTech Connect

    Yampolsky, Nikolai

    2016-09-22

    MaRIE x-ray free electron laser (FEL) is envisioned to deliver a burst of closely spaced in time pulses for enabling the capability of studying the dynamic processes in a sample. MaRIE capability can be largely enhanced using the superconducting undulator, which has the capability of doubling its period. This technology will allow reaching the photon energy as low as ~200-500 eV. As a result, the MaRIE facility will have a broader photon energy range enabling a larger variety of experiments. The soft x-ray capability is more likely to achieve the 3D imaging of dynamic processes in noncrystal materials than the hard x-ray capability alone.

  10. 77 FR 43644 - Culturally Significant Objects Imported for Exhibition Determinations: “Byzantine Art in the Mary...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-07-25

    ... Culturally Significant Objects Imported for Exhibition Determinations: ``Byzantine Art in the Mary and Michael Jaharis Galleries of Greek, Roman and Byzantine Art'' SUMMARY: Notice is hereby given of the... exhibition ``Byzantine Art in the Mary and Michael Jaharis Galleries of Greek, Roman and Byzantine...

  11. 77 FR 59414 - Application From Marys River Ranch, Elko County, NV, for an Enhancement of Survival Permit; Safe...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-27

    ...; FF08E00000-FXES11120800000F2-123-F2] Application From Marys River Ranch, Elko County, NV, for an Enhancement... of availability and receipt of application. SUMMARY: In response to an application from Marys River... management activities on their property to enhance, restore, or maintain habitat benefiting species...

  12. The Rev. John Bracken v. the Visitors of William and Mary College: A Post-Revolutionary Problem in Visitatorial Jurisdiction.

    ERIC Educational Resources Information Center

    Bridge, J. W.

    1979-01-01

    Reforms in 1779 at the College of William and Mary caused a professor to be dismissed, after which he took legal action against the institution. It is concluded that English corporate law was abused in defending against the professor's action. (Journal availability: College of William and Mary, Williamsburg, VA 23185, $3.00.) (MSE)

  13. MARIE Measurements and Model Predictions of Solar Modulation of Galactic Cosmic Rays at Mars

    NASA Technical Reports Server (NTRS)

    Saganti, P. B.; Cucinotta, F. A.; Zeitlin, C. J.; Cleghorn, T. F.; Hu, X.; Lee, K. T.

    2003-01-01

    Recent data from the MARIE (Martian Radiation Environment Experiment) instrument on board the 2001 Mars Odyssey spacecraft currently in Mars orbit are presented. It is shown that the short-term modulations of galactic cosmic rays (GCR) are well described by correlating the so lar modulation parameter, <1>, with Earth-based neutron monitor counts using a 85-day time lag and the NASA Models - HZETRN (High Z and Energy Transport) and QMSFRG (Quantum Multiple Scattering theory of nuclear Fragmentation). The dose rates observed by the MARIE instrument are within 10% of the model calculations.

  14. A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

    PubMed Central

    Guedj, Mickaël; Bertrand, Viviane; Foucquier, Julie; Jouve, Elisabeth; Commenges, Daniel; Proust-Lima, Cécile; Murphy, Niall P.; Blin, Olivier; Magy, Laurent; Cohen, Daniel; Attarian, Shahram

    2017-01-01

    The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity of the CMTNS for measuring disease severity and progression in CMT1A patients has been questioned. Here, we applied a Rasch analysis in a French cohort of patients to evaluate the psychometrical properties of the CMTNS. Overall, our analysis supports the validity of the CMTNS for application to CMT1A patients though with some limitations such as certain items of the CMTNS being more suitable for moderate to severe forms of the disease, and some items being disordered. We suggest that additional items and/or categories be considered to better assess mild-to-moderate patients. PMID:28095456

  15. [PREGNANCY AND DELIVERY IN A PATIENT WITH CHARCOT-MARIE-TOOTH DISEASE].

    PubMed

    Pehlivanov, B; Matev, M

    2016-01-01

    We report a case of a 34 years old primigravida with Charcot-Marie-Tooth disease (CMTD). The course of pregnancy was uneventful with no deterioration of symptoms due to the disease. Performed amniocentesis showed healthy fetus. Planned cesarean section with spinal anesthesia was performed because of the restricted pelvis. The possible issues of combination pregnancy and CMTD are discussed.

  16. Living Proof: What Helen Keller, Marilyn Monroe, and Marie Curie Have in Common.

    ERIC Educational Resources Information Center

    Saul, E. Wendy

    1986-01-01

    Examines biographies of Marie Curie written for children and discusses two types of distortions: simple misrepresentations of fact and selective retelling of the past. It is concluded that biographies of minority or female success should deal specifically with strategies used by the hero or heroine to combat prejudice. (EM)

  17. Assessing a Couple's Relationship and Compatibility Using the MARI[R] Card Test and Mandala Drawings

    ERIC Educational Resources Information Center

    Frame, Phyllis G.

    2006-01-01

    This paper illustrates the use of the MARI[R] Card Test, a transpersonal assessment tool which includes archetypal designs and color choices, as well as the drawing of a white and black mandala, or circle picture, for assessing the compatibility of two people in a committed relationship. In an informal pilot research study, 22 couples were given…

  18. MaRIE: A facility for time-dependent materials science at the mesoscale

    SciTech Connect

    Barnes, Cris William; Kippen, Karen Elizabeth

    2015-02-11

    To meet new and emerging national security issues the Laboratory is stepping up to meet another grand challenge—transitioning from observing to controlling a material’s performance. This challenge requires the best of experiment, modeling, simulation, and computational tools. MaRIE is the Laboratory’s proposed flagship experimental facility intended to meet the challenge.

  19. 75 FR 22436 - Michael Williams-Control Exemption-St. Maries River Railroad, Inc.

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-28

    ... Surface Transportation Board Michael Williams-Control Exemption-St. Maries River Railroad, Inc. Michael Williams (applicant),\\1\\ a noncarrier, has filed a verified notice of exemption to acquire control of St... from STMA's parent, Potlatch Land & Lumber, LLC, by Williams Group, Inc. (WG).\\2\\ Applicant...

  20. Profile of District Transfers to the University of California, California State University, and St. Mary's College.

    ERIC Educational Resources Information Center

    Baratta, Frank

    The Contra Costa Community College District (CCCCD), in California, conducted a study to determine the type and number of transfer students served by both the CCCCD and by the University of California (UC), the California State University (CSU), or St. Mary's College (SMC) between 1982-83 and 1989-90. The study also assessed the completeness and…

  1. Neuromuscular Hip Dysplasia in Charcot-Marie-Tooth Disease Type 1A

    ERIC Educational Resources Information Center

    Bamford, Nigel S.; White, Klane K.; Robinett, Stephanie A.; Otto, Randolph K.; Gospe, Sidney M., Jr.

    2009-01-01

    Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary motor and sensory neuropathy) is the most frequent form of this disease, affecting 60 to 80% of the CMT population, but its diagnosis may be delayed because of inconsistent clinical signs and…

  2. Nerve Excitability Properties in Charcot-Marie-Tooth Disease Type 1A

    ERIC Educational Resources Information Center

    Nodera, Hiroyuki; Bostock, Hugh; Kuwabara, Satoshi; Sakamoto, Takashi; Asanuma, Kotaro; Jia-Ying, Sung; Ogawara, Kazue; Hattori, Naoki; Hirayama, Masaaki; Kaji, Ryuji

    2004-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is commonly considered a prototype of a hereditary demyelinating polyneuropathy. Apart from the myelin involvement, there has been little information on axonal membrane properties in this condition. Taking advantage of the uniform nature of the disease process, we undertook the "in vivo" assessment of…

  3. Mary Lee Settle and the Mountain Kingdom: A World Where Nobody Forgets Anything.

    ERIC Educational Resources Information Center

    Woodside, Jane Harris

    1992-01-01

    Novelist Mary Lee Settle reminiscences about growing up in an Appalachian coal mining town and how she uses her life experiences as a back drop for developing stories and characters for her novels. She discusses family history, coal mine violence, and the proud heritage and culture of Appalachians. (LP)

  4. Mary Lincoln's Madness: Understanding the Factors that Influence the Diagnosis and Treatment of Bipolar Disorder

    ERIC Educational Resources Information Center

    Dick, Carina; Renes, Susan L.; Strange, Anthony T.

    2010-01-01

    Mary Lincoln, wife of President Abraham Lincoln, lived a tragic life. Beginning with the death of her mother when she was a little girl, Mrs. Lincoln experienced a number of family deaths, including three brothers, three sons, and the murder of her beloved husband while she sat by his side. In addition to tragedy, Mrs. Lincoln suffered from poor…

  5. Water Quality Protection of the Grand Lake St. Marys in Ohio

    EPA Science Inventory

    Grand Lake St. Marys (GLSM) in northwestern Ohio is experiencing toxic levels of algal blooms resulting from nutrients, especially phosphorus (P) input from agricultural runoff. Originally constructed as a feeder reservoir for the Miami and Erie Canal, recreation activities on t...

  6. 33 CFR 207.441 - St. Marys Falls Canal and Locks, Mich.; security.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... for medical attention is a litter case, notification will be given sufficiently in advance to permit... ambulances and medical personnel into the lock area. (3) No passengers or guest passengers will be permitted to embark or debark at St. Marys Falls Canal except in emergency when medical attention is...

  7. 33 CFR 207.441 - St. Marys Falls Canal and Locks, Mich.; security.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... for medical attention is a litter case, notification will be given sufficiently in advance to permit... ambulances and medical personnel into the lock area. (3) No passengers or guest passengers will be permitted to embark or debark at St. Marys Falls Canal except in emergency when medical attention is...

  8. Effects of Ship-Induced Waves in an Ice Environment on the St. Marys River Ecosystem,

    DTIC Science & Technology

    1980-01-01

    Six M~ile Point.] Cnidaria Coleoptera Hydra Haliplus (S) Dytiscidae (S) Tricladida Lepidoptera Rhabdocoela Neuroptera Nematoda Sialis (F) Nemertinea (S...Frechette Point and Six Mile Point in the St. Marys River, February 15-April 21, 1979. [a-Not found in Ponar grab sample.] Cnidaria Sphemeroptera

  9. Mary Miles Bibb: Education and Moral Improvement in the "Voice of the Fugitive."

    ERIC Educational Resources Information Center

    Tripp, Bernell E.

    An ardent antislavery supporter and teacher, Mary Elizabeth Miles Bibb (c.1820-1877) knew the significance of an education and the purpose it would serve, in the classroom and in the newsroom, in establishing a better life for blacks prior to the Civil War. In 1847, her antislavery involvement allowed her to meet her future husband, Henry Bibb,…

  10. Magic Women on the Margins: Ec-Centric Models in Mary Poppins and Ms Wiz

    ERIC Educational Resources Information Center

    Valverde, Cristina Perez

    2009-01-01

    This paper offers a comparative analysis of two characters belonging to the tradition of empowered "spinster" in children's fiction, namely Mary Poppins and Ms Wiz, from the perspective of gender politics and child/adult interactions. A distinction is made between the figure portrayed in P. L. Travers' texts and the Disney film starring Julie…

  11. Walt Disney Meets Mary Daly: Invention, Imagination, and the Construction of Community.

    ERIC Educational Resources Information Center

    Covino, William A.

    2000-01-01

    Posits Walt Disney as an influential sorcerer in the process of integrating the real world into Disney's synthetic universe, and Mary Daly's work "Wickedary" as a work that constructs an alternative "magic kingdom" through an insistence on an anti-patriarchal lexicon. (NH)

  12. 77 FR 29916 - Proposed Amendment of Class D Airspace; Sault Ste Marie, ON

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-21

    ... is necessary to coincide with the Canadian control zone over Sault Ste Marie Airport. The FAA is taking this action to enhance the safety and management of Instrument Flight Rules (IFR) operations at... airspace to coincide with that portion of the control zone in Canadian airspace. Controlled airspace...

  13. 77 FR 56796 - Proposed Amendment of Class E Airspace; Sault Ste Marie, ON

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-14

    ... are necessary to coincide with the Canadian control zone over Sault Ste Marie Airport. The FAA is taking this action to enhance the safety and management of Instrument Flight Rules (IFR) operations at..., ON, to coincide with that portion of the control zone in Canadian airspace. Controlled airspace...

  14. Civil Rights' Voice and Conscience: Thorough Preparation and Research are Dr. Mary Frances Berry's Formidable Tools.

    ERIC Educational Resources Information Center

    Black Issues in Higher Education, 1994

    1994-01-01

    In an interview, black civil rights leader Mary Frances Berry discusses the dilemmas and opportunities facing African Americans, women, and other minorities from her perspectives as observer and Washington insider. Issues addressed include African-American leadership, transforming knowledge into policy, Afrocentrism, and tensions with other…

  15. The Politics of Thinking About China: 1. Mary Berry on China. 2. Shanker Versus Berry

    ERIC Educational Resources Information Center

    Berry, Mary; Shanker, Albert

    1978-01-01

    Mary Berry's speech suggesting that America had much to learn from Chinese education prompted a sharply critical letter from Albert Shanker, head of the American Federation of Teachers. Parts of the speech and the subsequent exchange with Shanker are reprinted here. (LBH)

  16. Dr. Mary McLeod Bethune: A Life Devoted to Service

    ERIC Educational Resources Information Center

    Long, Kim Cliett

    2011-01-01

    The purpose of this paper is to explore and analyze the leadership traits of Dr. Mary McLeod Bethune, an African-American woman of history, using the servant leadership theory developed by Robert K. Greenberg and the ten characteristics of servant leadership as conceived by Larry C. Spears. This exploration seeks to identify the significant…

  17. Summer Programs for Gifted Learners at the College of William and Mary.

    ERIC Educational Resources Information Center

    Peterson, Kristina; And Others

    1992-01-01

    The William and Mary Summer Enrichment Program for Gifted Learners serves students in the Williamsburg, Virginia, area from preschool through grade 10, while the Governor's School for Science and Technology serves high school juniors and seniors. A sample course in library skills for at risk verbally talented children (ages five through seven) is…

  18. Mary Pickersgill: The Woman Who Sewed the Star-Spangled Banner

    ERIC Educational Resources Information Center

    Smith, Megan; Wei, Jenny

    2013-01-01

    Just imagine: you live in a time before electricity. There are no sewing machines, no light bulbs, and certainly no television shows to keep you entertained. You spend six days a week working 12-hours each day inside your small home with four teenage girls and your elderly mother. This was the life of Mary Pickersgill, the woman who sewed the…

  19. Unheralded Historian: Mary Sheldon Barnes and Primary Source Material in History Books

    ERIC Educational Resources Information Center

    Chisholm, James A., Jr.

    2013-01-01

    In the latter part of the nineteenth century, Mary Sheldon Barnes emerged as a leading historical methods professor and history textbook author. Although men dominated the field, she wrote several articles and books alone or with her husband Earl Barnes about primary source materials and teaching. She lived during an era in United States history…

  20. Mary Sheldon Barnes and the Introduction of Social Sciences in Public Schools.

    ERIC Educational Resources Information Center

    Saxe, David Warren

    1989-01-01

    Presents the source method that Mary Sheldon Barnes publicized in her book, "Studies in General History" in 1885. Defines the source method as the thorough examination of original source materials through the application of systematic inquiry tools. Points out that Barnes combined the study of history with the study of contemporary life.…

  1. Life as the Middle Child: A Conversation With Mary Margaret Kerr

    ERIC Educational Resources Information Center

    Teagarden, James M.; Zabel, Robert H.; Kaff, Marilyn S.

    2015-01-01

    As part of an ongoing oral history project, a conversation was held with Dr. Mary Margaret Kerr on the past, present, and possible future of the field of providing services to children with emotional-behavioral disorders. Dr. Wood stresses the increasing importance of providing an interdisciplinary approach to meet the needs for children or, as…

  2. Rediscovering the Art of Developmental Therapy: An Interview with Mary M. Wood

    ERIC Educational Resources Information Center

    Teagarden, James M.; Kaff, Marilyn S.; Zabel, Robert H.

    2013-01-01

    Dr. Mary Margaret Wood is best known for developing psychoeducational programs that integrate mental health and special education interventions for children with emotional and behavioral disorders (EBD). Developmental Therapy (DT) includes comprehensive assessment of student behavior, communication, social, and cognitive development,…

  3. Breaking the Boundaries of Victorian Imperialism or Extending a Reformed 'Paternalism'? Mary Carpenter and India.

    ERIC Educational Resources Information Center

    Watts, Ruth

    2000-01-01

    Discusses the debate on gender and imperialism in India by examining the case of Mary Carpenter, a nineteenth century English educationist and social reformer, in order to provide more information on the debate. Addresses where Carpenter stood in the discourse on imperialism. (CMK)

  4. St Thomas' hospital is the wrong site for mary seacole statue.

    PubMed

    McDonald, Lynn

    2012-05-16

    Your news story, 'Council gives go-ahead for Seacole statue' (May 2), is orrect in declaring that planning permission for a memorial statue for Mary Seacole has been granted. But the plans have been approved by Lambeth Council's planning committee, rather than the council as a whole.

  5. Strangers and Orphans: Knowledge and Mutuality in Mary Shelley's "Frankenstein"

    ERIC Educational Resources Information Center

    Gomez, Claudia Rozas

    2013-01-01

    Paulo Freire consistently upheld humanization and mutuality as educational ideals. This article argues that conceptualizations of knowledge and how knowledge is sought and produced play a role in fostering humanization and mutuality in educational contexts. Drawing on Mary Shelley's novel "Frankenstein," this article focuses on the…

  6. The Gendering of Albert Einstein and Marie Curie in Children's Biographies: Some Tensions

    ERIC Educational Resources Information Center

    Wilson, Rachel E.; Jarrard, Amber R.; Tippins, Deborah J.

    2009-01-01

    Few twentieth century scientists have generated as much interest as Albert Einstein and Marie Currie. Their lives are centrally depicted in numerous children's biographies of famous scientists. Yet their stories reflect interesting paradoxes and tacit sets of unexplored sociocultural assumptions about gender in science education and the larger…

  7. From Cradleboard to Motherboard: Buffy Sainte-Marie's Interactive Multimedia Curriculum Transforms Native American Studies.

    ERIC Educational Resources Information Center

    King, Claire

    2000-01-01

    Describes "Science: Through Native American Eyes," an interactive multimedia CD-ROM for middle school that is part of the Cradleboard Teaching Project developed by musician and teacher Buffy Sainte-Marie. The Cradleboard joins Native American tradition and high-tech innovation to explore the core curriculum of the National Content Standards. (SLD)

  8. Response to Marie Paz Morales' "Influence of Culture and Language Sensitive Physics on Science Attitude Achievement"

    ERIC Educational Resources Information Center

    Cole, Mikel Walker

    2015-01-01

    This response to Marie Paz Morales' "Influence of culture and language sensitive physics on science attitude achievement" explores the ideas of culturally responsive pedagogy and critical literacy to examine some implications for culturally responsive science instruction implicit in the original manuscript. [For "Influence of…

  9. A DIY Campus Preservation Plan: Lessons Learned at the University of Mary Washington

    ERIC Educational Resources Information Center

    Smith, Andrea Livi; Spencer, Michael

    2012-01-01

    The University of Mary Washington (UMW) in Fredericksburg, Virginia, was founded in 1908. This article describes the process that led to the UMW preservation plan. Unlike most preservation plans, the UMW plan was developed in-house with limited funds. Furthermore, the catalyst for the plan was a grassroots effort on the part of students and alumni…

  10. Mary Carroll Craig Bradford: Providing Opportunities to Colorado's Women and Children through Suffrage and Education

    ERIC Educational Resources Information Center

    Caldwell, Heather Kleinpeter

    2009-01-01

    This dissertation is a historical biography on the life, suffrage and educational contributions of Mary Carroll Craig Bradford, a wife, mother, suffragist, teacher and educational administrator in the state of Colorado. The purpose of this dissertation was to find out exactly what Bradford's contributions were to her state. The initial observation…

  11. Reclaiming a Lost Leader: Mary Perkins Ryan, Visionary in Modern Catholic Education

    ERIC Educational Resources Information Center

    Heekin, Ann Morrow

    2008-01-01

    Mary Perkins Ryan remains one of the least recognized of the twentieth-century figures in the modern renewal of Catholic education in the United States. The reasons are many but none satisfactory. Ryan was an intellectual without a scholarly credential. She was an educator without an affiliation to an academic institution. She was a leading voice…

  12. Migrating to the City: Negotiating Gender and Race in Marie Arana's "Lima Nights"

    ERIC Educational Resources Information Center

    Heredia, Juanita

    2016-01-01

    This article examines Peruvian-American Marie Arana's second novel "Lima Nights" (2008) in which she represents Amazonian indigenous migrations to Lima, Peru during and after the Shining Path civil war years (1986-2006). As part of a generation of transnational US Latina authors in the post-2000 period, Arana recovers the image of the…

  13. World of John and Mary Smith: A Study of Quirk and Greenbaum's "University Grammar of English."

    ERIC Educational Resources Information Center

    Stephens, Kate

    This paper analyzes the "University Grammar of English" by Randolph Quirk and Sidney Greenbaum (1973) from the point of view of isolation of forms of language from meaning used to convey these forms, especially regarding gender differences and relations in the main characters, John and Mary Smith. It is suggested that females are underrepresented,…

  14. Making Socialists: Mary Bridges Adams and the Fight for Knowledge and Power, 1855-1939

    ERIC Educational Resources Information Center

    Weiler, Kathleen

    2012-01-01

    This article presents a review of "Making socialists: Mary Bridges Adams and the fight for knowledge and power, 1855-1939," by Jane Martin. Jane Martin has explored the history of late-nineteenth-century and early-twentieth century-British women educational activists in numerous publications over the past two decades. Her first book,…

  15. Mary S. Peake and Charlotte F. Forten: Black Teachers during the Civil War and Reconstruction

    ERIC Educational Resources Information Center

    Taylor, Kay Ann

    2005-01-01

    The teaching lives of Mary S. Peake and Charlotte L. Forten during the Civil War and Reconstruction through a limited life history approach are examined. It is a contribution to the roles of African American women in the history of American education.

  16. Bathymetric Survey and Storage Capacity of Upper Lake Mary near Flagstaff, Arizona

    USGS Publications Warehouse

    Hornewer, Nancy J.; Flynn, Marilyn E.

    2008-01-01

    Upper Lake Mary is a preferred drinking-water source for the City of Flagstaff, Arizona. Therefore, storage capacity and sedimentation issues in Upper Lake Mary are of interest to the City. The U.S. Geological Survey, in cooperation with the City of Flagstaff, collected bathymetric and land-survey data in Upper Lake Mary during late August through October 2006. Water-depth data were collected using a single-beam, high-definition fathometer. Position data were collected using real-time differential global position system receivers. Data were processed using commercial software and imported into geographic information system software to produce contour maps of lakebed elevations and for the computation of area and storage-capacity information. At full pool (spillway elevation of 6,828.5 feet above mean sea level), Upper Lake Mary has a storage capacity of 16,300 acre-feet, a surface area of 939 acres, a mean depth of 17.4 feet, and a depth near the dam of 39 feet. It is 5.6 miles long and varies in width from 308 feet near the central, narrow portion of the lake to 2,630 feet in the upper portion. Comparisons between this survey and a previous survey conducted in the 1950s indicate no apparent decrease in reservoir area or storage capacity between the two surveys.

  17. Marie Zimmermann Farm, U.S. Route 209, 5 Miles Southwest of ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    Marie Zimmermann Farm, U.S. Route 209, 5 Miles Southwest of Milford. The property is defined at its northern boundary by Zimmermann Road and at the west by Long Meadow Road. The east boundary of the parcel is the edge of the Delaware River. The south edge of the parcel is irregularly oriented east-to-west. , Milford, Pike County, PA

  18. Golden Girl: Mary Lai Reflects as She Marks Her 50th Anniversary.

    ERIC Educational Resources Information Center

    Iwanowski, Jay

    1996-01-01

    The career and administrative style of Mary M. Lai, who celebrates her 50th year as chief financial officer at Long Island University (New York), are discussed. Her perspectives on change in higher education and in the institution during that time, the administrator's role, current challenges for financial officers, and the college environment as…

  19. Online Opportunist: Mary Ellen Icaza--Montgomery County Public Libraries, Rockville, MD

    ERIC Educational Resources Information Center

    Library Journal, 2004

    2004-01-01

    When Mary Ellen Icaza became Electronic Services Librarian at Montgomery County Public Libraries, she noticed that the readers' services information on the library web site was invisible, even to librarians. "And if staff can't find it," she says, "customers can't." She set out to help people find that material-and to turn a…

  20. Mary Cassatt: Celebrating Everyday Life. Teacher's Guide. School Arts: Looking/Learning.

    ERIC Educational Resources Information Center

    Denker, Eric

    Mary Cassatt's paintings and graphics depict the world of 19th-century women, mothers, and children. Her exploration of intimate domestic life is informed by an unsurpassed ability to capture the natural, sometimes awkward poses of her figures and her refusal to "prettify" her subjects. This teaching guide gives an overview of Cassatt's…

  1. The design and research of anti-color-noise chaos M-ary communication system

    NASA Astrophysics Data System (ADS)

    Fu, Yongqing; Li, Xingyuan; Li, Yanan; Zhang, Lin

    2016-03-01

    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.

  2. 99mTc-DMSA Uptake in a Sister Mary Joseph's Nodule From Ovarian Cancer.

    PubMed

    Naddaf, Sleiman; Azzumeea, Fahad; Fahad Alzayed, Mohammed

    2016-12-01

    A 50-year-old woman with ovarian cancer underwent Tc-DMSA scan to evaluate the functional status of the right hydronephrotic kidney. The images incidentally revealed a well-defined focus of mild radiotracer uptake at the midanterior abdominal wall, which correlated with a metastatic Sister Mary Joseph's nodule seen on CT performed a week earlier.

  3. Novels, Thought Experiments, and Humanist Sociology in the Classroom: Mari Sandoz and CAPITAL CITY.

    ERIC Educational Resources Information Center

    Hill, Michael R.

    1987-01-01

    Based upon the teaching of Mari Sandoz' allegorical novel, CAPITAL CITY, this article identifies the characteristics of novels which provide a sociologically useful humanist perspective. A key characteristic is the extent to which the novel conducts thought experiments, defined as cerebral exercises which explore alternative social futures based…

  4. Science and Special Needs at Mary Hare School for the Deaf.

    ERIC Educational Resources Information Center

    Wright, Kevin

    2002-01-01

    Introduces the Mary Hare School which caters to academically able but very deaf children and explains the philosophy of a school that uses an oral approach to enable all students to have access to the normal curriculum and maximize their potential. (Author/YDS)

  5. Saint Mary's College Teacher Science Institute: Converting Teachers to Using Guided Inquiry for Science Curricula

    ERIC Educational Resources Information Center

    McCarthy, Deborah; Bellina, Joseph J., Jr.

    2003-01-01

    In 1988 Saint Mary's College received a grant from Lilly Endowment, Inc. to create a program to improve the quality of science education in the local public and private schools. As part of applying that grant we created one-week summer work-shops for elementary and middle school teachers (K-8) based on guided inquiry methods of education. Each…

  6. Response to Marie Paz Morales' ``Influence of culture and language sensitive physics on science attitude achievement''

    NASA Astrophysics Data System (ADS)

    Cole, Mikel Walker

    2015-12-01

    This response to Marie Paz Morales' "Influence of culture and language sensitive physics on science attitude achievement" explores the ideas of culturally responsive pedagogy and critical literacy to examine some implications for culturally responsive science instruction implicit in the original manuscript.

  7. Re-Birthing the Monstrous: James Whale's (Mis)Reading of Mary Shelley's "Frankenstein."

    ERIC Educational Resources Information Center

    Picart, Caroline Joan S.

    1998-01-01

    Contributes to scholarship on film and feminism by showing how James Whale's film attempts to excise or severely delimit the disturbing critique of the Romantic politics of gender in Mary Shelley's novel "Frankenstein." Discusses parthenogenesis, showing how the novel critiques the Romantic rhetorical reconstructions of masculine…

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

    PubMed

    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.

  9. Late Holocene Deglaciation of Marie Byrd Land, West Antarctica

    NASA Astrophysics Data System (ADS)

    Stone, J. O.; Balco, G.; Sugden, D. E.; Caffee, M.; Siddoway, C.; Sass, L.; Cowdery, S.

    2001-12-01

    The deglaciation history of West Antarctica provides a long-term record of West Antarctic ice sheet dynamics on timescales that are difficult to address observationally or by modeling. By dating moraine deposits stranded on mountain flanks as the ice sheet thinned, we are reconstructing the deglaciation history of a 70 km transect along the Boyd Glacier, in the Ford Ranges, Marie Byrd Land. Fresh erratics and abraded bedrock extend to summit level on most nunataks, indicating that these were overrun by ice during the last glaciation. Conversely, high summits near the coast are more intensely weathered than lower-lying peaks, and one erratic from this weathered zone gives a cosmogenic Be-10 exposure age of 103 ka, suggesting (though it does not prove) that these peaks stood above the surface of the glacial maximum ice sheet. If so, the age of an erratic immediately below the weathering boundary, 10.4 +/- 0.7 ka, dates the glacial maximum in the Ford Ranges. All other erratics, from glaciated surfaces at lower elevation, give younger exposure ages. Summit erratics from Mt Blades, Mt Passel and an unnamed nunatak in the eastern Fosdick Mtns indicate that these peaks emerged from the ice sheet at 6.8 +/- 0.5 ka, 3.6 +/- 0.3 ka, and 4.7 +/- 0.4 ka, respectively. Subsequent downwasting rates, inferred from the decrease in exposure ages with elevation on these mountains, were between 5 and 10 cm per year. The youngest age obtained so far, 590 +/- 70 years, comes from an erratic on the lower slopes of Mt Rea, 100-150 m above the Arthur and Boyd Glaciers. From these results we can draw the following conclusions about West Antarctic Ice Sheet (WAIS) deglaciation in the Ford Ranges: (i) Most thinning of the WAIS took place in the late Holocene. (ii) Therefore, recession post-dated climatic warming, which Antarctic ice cores indicate commenced at 20 ka, by 10-15 kyr. (iii) Recession post-dated all but the final stages of global eustatic sea level rise. The ice sheet grounding

  10. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

    PubMed

    Sevilla, Teresa; Lupo, Vincenzo; Martínez-Rubio, Dolores; Sancho, Paula; Sivera, Rafael; Chumillas, María J; García-Romero, Mar; Pascual-Pascual, Samuel I; Muelas, Nuria; Dopazo, Joaquín; Vílchez, Juan J; Palau, Francesc; Espinós, Carmen

    2016-01-01

    Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variants. The phenotype was variable and included patients with congenital or infantile onset, as well as others whose symptoms started in the second decade. The patients with early onset developed a spinal muscular atrophy-like picture, whereas in the later onset cases, the initial symptoms were cramps, distal weakness and sensory impairment. Weakness and atrophy progressed in a random and asymmetric fashion and involved limb girdle muscles, leading to a severe incapacity in adulthood. Sensory loss was always prominent and proportional to disease severity. Electrophysiological studies were consistent with an asymmetric axonal motor and sensory neuropathy, while fasciculations and myokymia were recorded rather frequently by needle electromyography. Sural nerve biopsy revealed pronounced multifocal depletion of myelinated fibres with some regenerative clusters and occasional small onion bulbs. Morc2 is expressed in both axons and Schwann cells of mouse peripheral nerve. Different roles in biological processes have been described for MORC2. As the silencing of Charcot-Marie-Tooth disease genes have been associated with DNA damage response, it is tempting to speculate that a deregulation of this pathway may be linked to the axonal degeneration observed in MORC2 neuropathy, thus adding a

  11. Spatially detailed quantification of metal loading for decision making: Metal mass loading to American fork and Mary Ellen Gulch, Utah

    USGS Publications Warehouse

    Kimball, B.A.; Runkel, R.L.

    2009-01-01

    Effective remediation requires an understanding of the relative contributions of metals from all sources in a catchment, and that understanding must be based on a spatially detailed quantification of metal loading. A traditional approach to quantifying metal loading has been to measure discharge and chemistry at a catchment outlet. This approach can quantify annual loading and the temporal changes in load, but does not provide the needed spatial detail to evaluate specific sources, which is needed to support remediation decisions. A catchment or massloading approach provides spatial detail by combining tracer-injection and synoptic-sampling methods to quantify loading. Examples of studies in American Fork, Utah, and its tributary Mary Ellen Gulch illustrate this different approach. The mass-loading study in American Fork treated Mary Ellen Gulch as a single inflow. From that point of view, Mary Ellen Gulch was one of the greatest sources of Fe, Mn, Zn, and colloidal Pb loads to American Fork. But when Mary Ellen Gulch was evaluated in a separate catchment study, the detailed locations of metal loading were identified, and the extent of metal attenuation upstream from the mouth of Mary Ellen Gulch was quantified. The net, instantaneous load measured at the mouth of Mary Ellen Gulch for remediation planning would greatly underestimate the contributions of principal sources within the catchment. Extending the detailed sampling downstream from Mary Ellen Gulch indicated the possibility of diffuse groundwater inflow from Mary Ellen Gulch to American Fork. Comparing loads for Mary Ellen Gulch in the two studies indicates that metal loads could be substantially underestimated for planning purposes without the detailed catchment approach for the low-flow conditions in these studies. A mass-loading approach provides both the needed quantification of metal loading and the spatial detail to guide remediation decisions that would be the most effective in the catchments

  12. National Dam Inspection Program. St. Mary’s River Watershed, Site Number 1, (NDI-ID Number MD-28) Potomac River Basin, Western Branch of St. Mary’s River, St. Mary’s County, Maryland. Phase I Inspection Report,

    DTIC Science & Technology

    1980-07-01

    storm frequency is assigned to the 11.5 inches of rainfall. Using the 11,700 cfs rate, the maximum design high water level was established at an eleva...THE COPY FURNISHED TO DTIC CONTAINED A SIGNIFICANT NUMBER OF PAGES WHICH DO NOT REPRODUCE LEGIBLY. JPTOX4C JIVER BAS! 5 f ESTERN)RANCH OF ST. MARY’S...River Watershed, Site No. I NDI ID NO. MD-28 Size: Intermediate (9600 acre-feet, 38 feet high ) Hazard Classification: High Owner: State of Maryland

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

    PubMed

    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

  14. Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette.

    PubMed

    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.

  15. [Marie Curie, née Maria Sklodowska (1867-1934)--contribution to the development of radiology].

    PubMed

    Babić, Rade R; Babić, Gordana Stanković

    2011-01-01

    Marie Curie, née Maria Sklodowska, was born on November 7, 1867 in Warsaw (Poland). She suffered from leukaemia and died on June 4, 1934. She was buried with full honours at Pantheon. Marie Curie and her husband Pierre Curie discovered the radioactive elements Polonium (84Po210), Thorium (90Th232) and Radium (88Ra226). Marie Curie introduced the term radioactivity into science. She was the first woman who got Ph.D. in France, the first woman professor at Sorbonne, Paris and Medical Academy. Of all the women who have ever won the Nobel Prize, Marie Curie was the only who received it twice. During World War I Marie Curie designed a mobile x-ray room "radiologic car". Marie Curie had an x-ray machine installed into a car and demonstrated how to use its dynamo for electric power production necessary for the x-ray machine to work. She had 20 cars with moving radiological lab made and trained 150 people to work on them. She brought something radically new into military medicine--mobile x-ray diagnostics. With the discovery of radioactive elements a new medical branch, radiotherapy, was developed.

  16. Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness.

    PubMed

    Kim, Gun-Ha; Kim, Kyoung Min; Suh, Sang-Il; Ki, Chang-Seok; Eun, Baik-Lin

    2014-07-01

    X-linked Charcot-Marie-Tooth disease (CMTX1) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities. Mutations in the connexin-32 gene (gap junction protein β1 [GJB1]) are responsible for CMTX1 disease. In this report, we describe a patient with CMTX1 disease presenting with recurrent attacks of transient and episodic acute demyelinating encephalomyelitis (ADEM)-like symptoms without previous signs of lower extremity weakness or foot deformities; the patient, as well as his asymptomatic mother, exhibited a novel GJB1 mutation (p.Met1Ile). Differential diagnosis of recurrent and transient ADEM-like illness, if unexplained, should include the possibility of CMTX1 disease.

  17. Variation amongst protoplast-derived potato plants (Solatium tuberosum cv. 'Maris Bard').

    PubMed

    Thomas, E; Bright, S W; Franklin, J; Lancaster, V A; Miflin, B J; Gibson, R

    1982-03-01

    Plants were obtained from protoplasts of shoot cultures of potato (Solarium tuberosum L. cv. 'Maris Bard') and from in situ calluses upon plants of cv. 'Majestic'. None of the protoplast-derived plants resembled each other in all of ten morphological characteristics scored and only one resembled the parental 'Maris Bard' type. As there were a number of plants regenerated from each of ten protoplast-derived calluses it is concluded that variation arose after protoplast isolation during the cell culture phase. Plants regenerated from in situ calluses of cv. 'Majestic' were quite uniform. Reported cases of variation and uniformity from cultured potato tissues are discussed. It is concluded that the variation is not a consequence of using protoplasts and that the expression or induction of variation is controllable.

  18. I Want to Believe: A Short Psychobiography of Mary Baker Eddy.

    PubMed

    Dean, Taylor Wilson

    2016-01-01

    The 18th and 19th centuries were beset with new religious movements in the United States: Shakers, Latter Day Saints, Millerites, and Seventh Day Adventists to name a few. One group, Christian Science, held radically different views than their counterparts and their origins lay in the most unlikely of places, a perpetually ill and poor woman from New Hampshire. Much has been said about Mary Baker Eddy: some say that she was a prophet, others that she was a fraud. Herein no such judgments are made. This study seeks to look into the life of Mary Baker Eddy from a psychological lens in the hopes that insight can be gained into the founding of the First Church of Jesus Christ Scientist and perhaps to allay the binary of Mrs. Eddy as either prophet or fanatic.

  19. GPS evidence for a coherent Antarctic plate and for postglacial rebound in Marie Byrd Land

    NASA Astrophysics Data System (ADS)

    Donnellan, Andrea; Luyendyk, Bruce P.

    2004-07-01

    GPS measurements collected between 1999 and 2002 in Marie Byrd Land, West Antarctica indicate no significant present motion between East and West Antarctica greater than 1-2 mm/year. Low strain rates imply that the Ross Sea rift is either inactive or active at a very low rate. This result indicates that the two subcontinents are likely joined as a single coherent lithospheric plate. They could have been joined since the end of Adare Trough spreading in Oligocene time. The volcanic activity in the Ross Sea sector at present such as at Mount Erebus is most likely related to mantle upwelling and not associated with continental rifting. GPS measurements of vertical rates indicate postglacial rebound of up to 12±4 mm/year in western Marie Byrd Land (wMBL). Errors are scaled 1 σ. The rock uplift rates are consistent with postglacial rebound models of significant ice thinning in the eastern Ross Ice Shelf in the late Holocene.

  20. Reversible Foix-Chavany-Marie Syndrome in a patient treated for hydrocephalus.

    PubMed

    Kaloostian, P; Chen, H; Harrington, H

    2012-10-01

    The authors report the first known case of Foix-Chavany-Marie Syndrome in a patient with hydrocephalus that reversed with ventriculoperitoneal shunting. A 34-year-old x-ray technician with a history of pilocytic astrocytoma resection and radiotherapy and ventriculoperitoneal shunt placement as a child presented with altered mental status and nausea. She was found to have acute hydrocephalus. Post-operatively she did well and was discharged home. The next day she became acutely altered with anarthria, difficulty speaking, and stiff facial muscles. After multiple revisions, she slowly recovered to her pre-op baseline over the course of next 2 months. This is the first known case of acute hydrocephalus causing Foix-Chavany-Marie Syndrome. Additionally, we show that this unique syndrome is slowly reversible after treatment of hydrocephalus.

  1. De Novo duplication in Charcot-Marie-Tooth Type 1A

    SciTech Connect

    Mandich, P.; Bellone, E.; Ajmar, F.

    1996-09-01

    We read with interest the paper on {open_quotes}Prevalence and Origin of De Novo Duplications in Charcot-Marie-Tooth Disease Type 1A: First Report of a De Novo Duplication with a Maternal Origin,{close_quotes}. They reported their experience with 10 sporadic cases of Charcot-Marie-Tooth type 1A (CMT1A) in which it was demonstrated that the disease had arisen as the result of a de novo duplication. They analyzed the de novo-duplication families by using microsatellite markers and identified the parental origin of the duplication in eight cases. In one family the duplication was of maternal origin, whereas in the remaining seven cases it was of paternal origin. The authors concluded that their report was the first evidence of a de novo duplication of maternal origin, suggesting that this is not a phenomenon associated solely with male meiosis. 7 refs.

  2. The research school of Marie Curie in the Paris faculty, 1907-14.

    PubMed

    Davis, J L

    1995-07-01

    As the most famous woman scientist of the twentieth century, there has been no shortage of books and articles on the life and career of Marie Curie (1867-1934). Her role as director of a laboratory-based research school in the new scientific field of radioactivity, a field which embraced both chemistry and physics, however, has never been examined. In recent years, there has been a growing interest in the question of research schools, and Morrell, Ravetz, Geison, and Klosterman, amongst others, have written on this subject. Using, in part, the methodology of Morrell, this paper investigates the role of Marie Curie as a school director in the Paris Faculty in the years 1907-14, examining the work and characteristics of her school and assessing her effectiveness as a director.

  3. Mining Cultures and Mary Cults: Where the Sacred and Profane Meet.

    PubMed

    Munday, Pat

    2016-01-01

    Our Lady of the Rockies (OLR) is a ninety-foot-tall statue of the Virgin Mary overlooking Butte, Montana, from its perch high atop the Continental Divide. In the popularized account, OLR is a uniquely local undertaking reflecting the community's character and pride. Yet OLR is far more than this, for it taps into a rich vein of cultural and spiritual tradition. As Mircea Eliade pointed out, the notion of the earth as female pervaded early Western civilizations. Mines were like the vagina of the earth, leading to the womb where metallic ores waxed like embryos. Accordingly, miners purified themselves through various rites to amend their violation. OLR began as a plan for a small, private altar. With the collapse of Butte's copper mining economy, unemployed miners rallied around the idea of building a major shrine to the Virgin Mary that would help restore the city's culture and economy.

  4. The ties that bind: Soil surveyor William Edgar Tharp and oceanographic cartographer Marie Tharp

    NASA Astrophysics Data System (ADS)

    Landa, Edward R.

    The link between soil science and geology is personified in the American father and daughter: soil surveyor William Edgar Tharp (1870-1959) and oceanographic cartographer Marie Tharp (1920-2006). From 1904 to 1935, W.E. Tharp mapped soils in 14 states for the US Department of Agriculture, and campaigned during the late 1920s-early 1930s to raise awareness of the high rates of soil erosion from croplands. The lifestyle of the federal soil surveyor in the United States during the early 20th century involved frequent household moves, and it played a formative role in Marie Tharp’s childhood. Her path to a career in geology was molded by this family experience, by mentors encountered in the classroom, and by social barriers that faced women scientists of that era.

  5. 250 Years of Physics at the College of William and Mary: 1760-2010

    NASA Astrophysics Data System (ADS)

    von Baeyer, Hans

    2010-02-01

    The recorded history of physics at William and Mary begins when Thomas Jefferson, the College's most distinguished alumnus, meets his mentor, Dr. William Small of Scotland, who opens his eyes to the wonders of natural philosophy. After the vicissitudes of the Revolution and the Civil War, physics enjoys a revival in the twentieth century, culminating in the creation of a Ph.D. program in the 1960s and the building of the William Small Physical Laboratory in Williamsburg. In the 1980s the modern era is launched by the establishment of the US Department of Energy's Jefferson Lab for nuclear physics in nearby Newport News. Today both Small Hall and Jefferson Lab are in the process of renovation. The legacies of Small and Jefferson for physics at William and Mary are secure! )

  6. Concept And Its Implementation During The Reconstruction Of The Church Of Blessed Virgin Mary In Chojna

    NASA Astrophysics Data System (ADS)

    Płotkowiak, Maciej

    2015-12-01

    St. Mary's parish church in Chojna was erected at the turn of XIV and XVc. in a shape of three aisles, hall church without transept, completed from the west with a single tower and from the east with polygonal presbytery with an ambulatory attached. The convergence of characteristic structural and decorative features with employed ones in medieval churches being attributed to Hinrich Brunsberg's fabric resulted in such a way, that also authorship of St. Mary in Chojna was assigned to this legendary architect and master builder of late Middle Ages period. The church was destroyed by fire during WWII in February 1945 and since then had remained as an open ruin. In 1997 reconstruction procedure of the church was begun under the leadership of the author and it still continues. This text consists of the sum of experiences connected with confronting design ideas and solutions with their executions on the site during construction works.

  7. 2012 Existing Vegetation Plan Marie Zimmermann Farm, U.S. Route ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    2012 Existing Vegetation Plan - Marie Zimmermann Farm, U.S. Route 209, 5 Miles Southwest of Milford. The property is defined at its northern boundary by Zimmermann Road and at the west by Long Meadow Road. The east boundary of the parcel is the edge of the Delaware River. The south edge of the parcel is irregularly oriented east-to-west. , Milford, Pike County, PA

  8. Laparoscopic appendectomy in a pediatric patient with type 1 Charcot-Marie-Tooth disease.

    PubMed

    Heller, Joshua A; Marn, Richard Y

    2015-12-01

    A pediatric patient with type 1 Charcot-Marie-Tooth disease-a disorder associated with a demyelinating polyneuropathy-presented for laparoscopic appendectomy in the setting of acute appendicitis. Induction and maintenance of anesthesia were successfully managed without the use of any depolarizing or nondepolarizing neuromuscular blocking agents. The patient was successfully extubated at the completion of the procedure without any respiratory or neuromuscular sequelae, with excellent pain control and no postoperative nausea or vomiting.

  9. Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy

    SciTech Connect

    Fain, P.R.; Barker, D.F.; Chance, P.F. )

    1994-02-01

    Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X Chromosome. Pairwise linkage analysis with individual markers confirmed tight linkage of CMTX to the pericentromeric region in each family. Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56, PGK1). 38 refs., 2 figs., 1 tab.

  10. ["Professor is well". The correspondence between Max Schur and Marie Bonaparte].

    PubMed

    Stouten, Hanna

    2012-01-01

    The correspondence between Freud's doctor and his "Princess" spans the period 1929-1962, and comprises over 90 letters, mostly concerned with Freud's health but also touching upon Schur's permanent dilemma--to emigrate or to stay with Freud--and upon the dire situation of his family and friends on behalf of whom he appeals to Marie for help. After Freud's death the letters change in focus.

  11. Mary Wollstonecraft Shelley's Frankenstein, or the modern Prometheus: a psychological study of unrepaired shame.

    PubMed

    Severino, Sally K; Morrison, Nancy K

    2013-01-01

    Mary Wollstonecraft Shelley's modern Prometheus shows us the eternal punishment of unrepaired shame--eternal entrapment within the shame triangle of victim, perpetrator and rescuer. This paper describes how Shelley's insight--that lack of love creates a monster living in shame--is being confirmed by neuroscience and how this is exemplified in two characters--the creature and Victor Frankenstein. Additionally, it delineates how pastoral counselors can help those suffering from unrepaired shame

  12. Carbon Cycle 2.0: Mary Ann Piette: Impact of efficient buildings

    ScienceCinema

    Mary Ann Piette

    2016-07-12

    Mary Ann Piette speaks at the Carbon Cycle 2.0 kick-off symposium Feb. 2, 2010. We emit more carbon into the atmosphere than natural processes are able to remove - an imbalance with negative consequences. Carbon Cycle 2.0 is a Berkeley Lab initiative to provide the science needed to restore this balance by integrating the Labs diverse research activities and delivering creative solutions toward a carbon-neutral energy future. http://carboncycle2.lbl.gov/

  13. What Mary Toft Felt: Women’s Voices, Pain, Power and the Body

    PubMed Central

    2015-01-01

    In autumn 1726, Mary Toft began to deliver rabbits in Godalming, Surrey. The case became a sensation and was reported widely in newspapers, popular pamphlets, poems and caricatures. Toft was attended by at least six different doctors, some members of the Royal College of Physicians or attached to the Royal Court, but no doctor declared the affair a hoax until Toft herself confessed on 7 December 1726. This article focuses on Toft’s three surviving confessions in order to explore not the doctors or even wider representations of the affair but instead the person of Mary Toft herself. These rare sources give rare insight into one woman’s experiences of reproduction in the early eighteenth century. The essay engages with recent work on recovering women’s voices in the past, reconstructing Mary Toft’s words and her embodied and affective experience of the affair. These documents suggest a revision to our understanding of the hoax of 1726, one that situates the affair not in the context of the scientific revolution and Enlightenment or the assumption of men’s control over midwifery, but instead in the context of power dynamics amongst women in the practices of early-modern reproduction and birth. PMID:27019607

  14. Peroneal nerve branching suggests compression palsy in the deformities of Charcot-Marie Tooth disease.

    PubMed

    Guyton, Gregory P

    2006-10-01

    Altered expression of the PMP-22 protein may be implicated in Charcot-Marie-Tooth disease and the much rarer disease, hereditary liability to pressure palsy. An element of chronic pressure palsy may explain the unique distribution of motor imbalance in patients with Charcot-Marie-Tooth disease. If this is the case, innervation of the lateral leg motor units should show sufficient anatomic segregation to explain the variable disease patterns. Twelve fresh cadaver specimens were dissected to examine the innervation of the anterior and lateral compartment muscles from the peroneal nerve. Nine specimens had a branch to the peroneus longus at or proximal to nerve passage of the posterior fibular neck. The first branch to the peroneus longus was 2.1 +/- 6.7 mm proximal, and the first branch to the peroneus brevis was 110.9 +/- 19 mm distal. The nerve to the tibialis anterior originated within 5 mm of the reference point and wrapped transversely along the fibular neck for 17.2 +/- 1.4 mm. These discrete pathways to the individual motor units in the anterolateral leg were consistent with the possible implication of chronic pressure palsy in the patterns of atrophy in Charcot-Marie-Tooth disease.

  15. An Overview of the MaRIE X-FEL and Electron Radiography LINAC RF Systems

    SciTech Connect

    Bradley, Joseph Thomas III; Rees, Daniel Earl; Scheinker, Alexander; Sheffield, Richard L.

    2015-05-04

    The purpose of the Matter-Radiation Interactions in Extremes (MaRIE) facility at Los Alamos National Laboratory is to investigate the performance limits of materials in extreme environments. The MaRIE facility will utilize a 12 GeV linac to drive an X-ray Free-Electron Laser (FEL). Most of the same linac will also be used to perform electron radiography. The main linac is driven by two shorter linacs; one short linac optimized for X-FEL pulses and one for electron radiography. The RF systems have historically been the one of the largest single component costs of a linac. We will describe the details of the different types of RF systems required by each part of the linacs. Starting with the High Power RF system, we will present our methodology for the choice of RF system peak power and pulselength with respect to klystron parameters, modulator parameters, performance requirements and relative costs. We will also present an overview of the Low Level RF systems that are proposed for MaRIE and briefly describe their use with some proposed control schemes.

  16. Mary Shelley's Frankenstein: exploring neuroscience, nature, and nurture in the novel and the films.

    PubMed

    Ginn, Sheryl R

    2013-01-01

    The story of Victor Frankenstein's quest to conquer death produced a legacy that has endured for almost 200 years. Powerful in its condemnation of the scientist's quest to achieve knowledge at any cost, Mary Shelley's Frankenstein is one of the most enduring novels of all time. It has never been out of print and has been translated to both stage and screen many times since its "birth." Numerous novels, short stories, and scripts have drawn upon Shelley's primary theme: the creation of a living organism from the dead, dying, and decaying body parts of human beings. Although Mary does not provide details of the animation process, particularly in her first edition, the process has been explored with a great deal of imagination and originality in the various cinematic portrayals of the story. Equally important as the theme of the scientist's quest for knowledge is the role that a creator plays in the life of its creation. Mary Shelley's novel pondered on how rejection would affect the offspring of such "unnatural" origins. In keeping with the "scientific" basis of the Creature's birth, cinematic portrayals attempted to provide a scientific rationale for the Creature's descent into madness and its evil behavior. From Robert Florey's initial script for the 1931 film directed by James Whale to the more recent films and television series, an abnormal brain is considered to be the cause of the madness and malignity of the Creature.

  17. What Mary Toft Felt: Women's Voices, Pain, Power and the Body.

    PubMed

    Harvey, Karen

    2015-10-01

    In autumn 1726, Mary Toft began to deliver rabbits in Godalming, Surrey. The case became a sensation and was reported widely in newspapers, popular pamphlets, poems and caricatures. Toft was attended by at least six different doctors, some members of the Royal College of Physicians or attached to the Royal Court, but no doctor declared the affair a hoax until Toft herself confessed on 7 December 1726. This article focuses on Toft's three surviving confessions in order to explore not the doctors or even wider representations of the affair but instead the person of Mary Toft herself. These rare sources give rare insight into one woman's experiences of reproduction in the early eighteenth century. The essay engages with recent work on recovering women's voices in the past, reconstructing Mary Toft's words and her embodied and affective experience of the affair. These documents suggest a revision to our understanding of the hoax of 1726, one that situates the affair not in the context of the scientific revolution and Enlightenment or the assumption of men's control over midwifery, but instead in the context of power dynamics amongst women in the practices of early-modern reproduction and birth.

  18. XAS studies of the effectiveness of iron chelating treatments of Mary Rose timbers

    NASA Astrophysics Data System (ADS)

    Berko, A.; Smith, A. D.; Jones, A. M.; Schofield, E. J.; Mosselmans, J. F. W.; Chadwick, A. V.

    2009-11-01

    The oxidation of sulfur in marine archaeological timbers under museum storage conditions is a recently identified problem, particularly for major artefacts such as historic ships excavated from the seabed. Recent work on the Vasa has stressed the role of iron in catalysing the oxidative degradation of the wood cellulose and the polyethylene glycols used to restore mechanical integrity to the timbers. In developing new treatment protocols for the long term preservation of Henry VIII of England's flagship, the Mary Rose, we are investigating the potential of chelating agents to neutralise and remove the iron products from the ships timbers. We have explored the use of aqueous solutions of chelating agents of calcium phytate, ethylenediaminetetraacetic acid (EDTA), diethylenetriaminepentaacetic acid (DTPA) and ammonium citrate to extract the iron compounds. All of these solutions exhibit some level of iron removal; however the key is to find the most effective concentration at pH of around 7 of the reagent solution, to minimise the treatment time and find the most cost-effective treatment for the whole of the Mary Rose hull. Fe K-edge XAFS data from samples of Mary Rose timbers, before and after treatment by the chelating agents mentioned has been collected. The data collected provide valuable insights into the effectiveness of the treatment solutions.

  19. Solar Particle Events at Mars Seen by MARIE, 2002-2003

    NASA Technical Reports Server (NTRS)

    Cleghorn, T.; Zeitlin, C.; Cucinotta, F.; Saganti, P.; Anderson, V.; Lee, K. T.; Pinsky, L. S.; Turner, R.; Atwell, W.

    2004-01-01

    The MARIE detector aboard the 200 1 Mars Odyssey operated continuously between March 13, 2002, and October 28, 2003. During these twenty months, approximately 12 periods of enhanced solar particle activity were observed. The last of these, on October 26-28, 2003, caused the instrument to lose communication with the spacecraft. In addition to that very large event, several other major Solar Particle Events (SPEs) were observed. Those prior to March 2003 have been discussed elsewhere [I] and will be reviewed here. Many of the solar events seen at Mars correspond well to observations by GOES and ACE satellites near Earth. Some SPEs were observed by MARIE when Mars was on, or near, the opposite side of the sun as seen from Earth; and while a few of them - most notably the large full-halo Coronal Mass Ejections of July 2002 - coincided with events seen by the near-Earth satellites, others were not seen at Earth. Conversely, in this same time period, some SPEs were seen at Earth but not at Mars. Subsequent to February 2003, three SPEs were observed by MARIE, on March 18- 20, May 28 - June 3, and Oct. 26-28. Observations of solar energetic particles at Mars can be combined with data from other points in the heliosphere from, e.g., the Solar Heliospheric Observatory, ACE/CRIS, and GOES satellites near Earth, and Ulysses. Having several different observation points is useful for testing models of CME initiation and propagation.

  20. Long-term trends in the St. Marys River open water fish community

    USGS Publications Warehouse

    Schaeffer, Jeffrey S.; Fielder, David G.; Godby, Neal; Bowen, Anjanette; O'Connor, Lisa; Parrish, Josh; Greenwood, Susan; Chong, Stephen; Wright, Greg

    2011-01-01

    We examined trends in species composition and abundance of the St. Marys River fish community. Abundance data were available approximately once every six years from 1975 through 2006, and size and age data were available from 1995 through 2006. We also compared survey data in 2006 with results of a concurrent creel survey that year, as well as data from prior surveys spanning a 69 year time frame. The St. Marys River fish community was best characterized as a coolwater fish community with apparent little variation in species composition, and only slight variation in overall fish abundance since 1975. However, we did find recent trends in abundance among target species sought by anglers: centrarchids increased, percids appeared stable, and both northern pike Esox lucius and cisco Coregonus artedii declined. Survey results suggested that walleye (Sander vitreus) and yellow perch (Perca flavescens) experienced moderate exploitation but benefited from recent strong recruitment and faster growth. Mechanisms underlying declines of northern pike and cisco were not clear; reduced abundance could have resulted from high exploitation, variation in recruitment, or a combination of both factors. Despite these challenges, the St. Marys River fish community appears remarkably stable. We suggest that managers insure that creel surveys occur simultaneously with assessments, but periodic gill net surveys may no longer provide adequate data in support of recent, more complex management objectives. While additional surveys would add costs, more frequent data might ensure sustainability of a unique fish community that supports a large proportion of angler effort on Lake Huron.

  1. Shortened internodal length of dermal myelinated nerve fibres in Charcot–Marie-Tooth disease type 1A

    PubMed Central

    Saporta, Mario A.; Katona, Istvan; Lewis, Richard A.; Masse, Stacey; Shy, Michael E.

    2009-01-01

    Charcot–Marie-Tooth disease type 1A is the most common inherited neuropathy and is caused by duplication of chromosome 17p11.2 containing the peripheral myelin protein-22 gene. This disease is characterized by uniform slowing of conduction velocities and secondary axonal loss, which are in contrast with non-uniform slowing of conduction velocities in acquired demyelinating disorders, such as chronic inflammatory demyelinating polyradiculoneuropathy. Mechanisms responsible for the slowed conduction velocities and axonal loss in Charcot–Marie-Tooth disease type 1A are poorly understood, in part because of the difficulty in obtaining nerve samples from patients, due to the invasive nature of nerve biopsies. We have utilized glabrous skin biopsies, a minimally invasive procedure, to evaluate these issues systematically in patients with Charcot–Marie-Tooth disease type 1A (n = 32), chronic inflammatory demyelinating polyradiculoneuropathy (n = 4) and healthy controls (n = 12). Morphology and molecular architecture of dermal myelinated nerve fibres were examined using immunohistochemistry and electron microscopy. Internodal length was uniformly shortened in patients with Charcot–Marie-Tooth disease type 1A, compared with those in normal controls (P < 0.0001). Segmental demyelination was absent in the Charcot–Marie-Tooth disease type 1A group, but identifiable in all patients with chronic inflammatory demyelinating polyradiculoneuropathy. Axonal loss was measurable using the density of Meissner corpuscles and associated with an accumulation of intra-axonal mitochondria. Our study demonstrates that skin biopsy can reveal pathological and molecular architectural changes that distinguish inherited from acquired demyelinating neuropathies. Uniformly shortened internodal length in Charcot–Marie-Tooth disease type 1A suggests a potential developmental defect of internodal lengthening. Intra-axonal accumulation of mitochondria provides new insights into the

  2. The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.

    PubMed

    Niemann, Axel; Huber, Nina; Wagner, Konstanze M; Somandin, Christian; Horn, Michael; Lebrun-Julien, Frédéric; Angst, Brigitte; Pereira, Jorge A; Halfter, Hartmut; Welzl, Hans; Feltri, M Laura; Wrabetz, Lawrence; Young, Peter; Wessig, Carsten; Toyka, Klaus V; Suter, Ueli

    2014-03-01

    The ganglioside-induced differentiation-associated protein 1 (GDAP1) is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. We found that Gdap1 knockout mice (Gdap1(-/-)), mimicking genetic alterations of patients suffering from severe forms of Charcot-Marie-Tooth disease, develop an age-related, hypomyelinating peripheral neuropathy. Ablation of Gdap1 expression in Schwann cells recapitulates this phenotype. Additionally, intra-axonal mitochondria of peripheral neurons are larger in Gdap1(-/-) mice and mitochondrial transport is impaired in cultured sensory neurons of Gdap1(-/-) mice compared with controls. These changes in mitochondrial morphology and dynamics also influence mitochondrial biogenesis. We demonstrate that mitochondrial DNA biogenesis and content is increased in the peripheral nervous system but not in the central nervous system of Gdap1(-/-) mice compared with control littermates. In search for a molecular mechanism we turned to the paralogue of GDAP1, GDAP1L1, which is mainly expressed in the unaffected central nervous system. GDAP1L1 responds to elevated levels of oxidized glutathione by translocating from the cytosol to mitochondria, where it inserts into the mitochondrial outer membrane. This translocation is necessary to substitute for loss of GDAP1 expression. Accordingly, more GDAP1L1 was associated with mitochondria in the spinal cord of aged Gdap1(-/-) mice compared with controls. Our findings demonstrate that Charcot-Marie-Tooth disease caused by mutations in GDAP1 leads to mild, persistent oxidative stress in the peripheral nervous system, which can be compensated by GDAP1L1 in the unaffected central nervous system. We conclude that members of the GDAP1 family are responsive and protective against stress associated with increased levels of oxidized glutathione.

  3. Geochronology and geochemistry of pre-Jurassic superterranes in Marie Byrd Land, Antarctica

    NASA Astrophysics Data System (ADS)

    Pankhurst, R. J.; Weaver, S. D.; Bradshaw, J. D.; Storey, B. C.; Ireland, T. R.

    1998-02-01

    Marie Byrd Land, Antarctica, is a major part of the proto-Pacific supercontinental margin. On the basis of new geochronological and geochemical data relating to its pre-Jurassic evolution, Marie Byrd Land is subdivided into western or interior ("Ross") and eastern or exterior ("Amundsen") provinces, equivalent to two superterranes in New Zealand. The Ross province is characterized by Cambrian? metagraywackes and I-type orthogneiss dated at 505±5 Ma by U-Pb SHRIMP (Sensitive High Resolution Ion Microprobe). Its magmatic record consists of Devonian-Carboniferous (375±5 Ma and circa 339±6 Ma), predominantly I-type granitoids, and further minor granitic magmatism in Permo-Triassic times. This Paleozoic history is comparable to that of the Gondwana margin in northern Victoria Land, western New Zealand, and SE Australia. The Amundsen province has no observed Paleozoic graywacke succession; evidence from Rb-Sr and U-Pb SHRIMP dating supports calc-alkaline granitoid events in Ordovician/Silurian (450-420 Ma) and Permian (276±2 Ma) times. The latter may be the previously unknown source of Permian volcanic detritus in the Ellsworth and Transantarctic mountains. The Amundsen province is considered to be the equivalent of the Median Tectonic Zone of New Zealand, and arc magmatism of comparable ages is found in the Antarctic Peninsula and Thurston Island. The underlying lithosphere of the two provinces may be distinguished by Nd isotope data; granitoids and metasedimentary rocks of the Ross province have Meso-Proterozoic Nd model ages, generally 1300-1500 Ma, compared to 1000-1300 Ma for the Amundsen province. On the basis of published palaeomagnetic data, the two provinces amalgamated to form Marie Byrd Land in mid-Cretaceous times, only shortly before rifting of the New Zealand continental block away from Antarctica.

  4. Marys Lake 69/115-kV transmission line upgrade and substation expansion projects

    SciTech Connect

    1996-05-01

    Western Area Power Administration (Western) and the Platte River Power Authority (Platte River) propose to upgrade portions of the existing electric transmission and substation system that serves the Town of Estes Park, Colorado. The existing transmission lines between the Estes Power Plant Switchyard and the Marys Lake Substation include a 115,000 volt (115-kV) line and 69,000 volt (69-kV) line. Approximately one mile is a double-circuit 115/69-kV line on steel lattice structures, and approximately two miles consists of separate single-circuit 115-kV and a 69-kV lines, constructed on wood H-Frame structures. Both lines were constructed in 1951 by the US Bureau of Reclamation. The existing transmission lines are on rights-of-way (ROW) that vary from 75 feet to 120 feet and are owned by Western. There are 48 landowners adjacent to the existing ROW. All of the houses were built adjacent to the existing ROW after the transmission lines were constructed. Upgrading the existing 69-kV transmission line between the Marys Lake Substation and the Estes Power Plant Switchyard to 115-kV and expanding the Marys Lake Substation was identified as the most effective way in which to improve electric service to Estes Park. The primary purpose and need of the proposed project is to improve the reliability of electric service to the Town of Estes Park. Lack of reliability has been a historical concern, and reliability will always be less than desired until physical improvements are made to the electrical facilities serving Estes Park.

  5. Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.

    PubMed

    Kulkarni, Shilpa D; Sayed, Rafat; Garg, Meenal; Patil, Varsha A

    2015-11-01

    Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.

  6. Heavy Ion Flux Comparison of MARIE and ACE/CRIS Instruments

    NASA Technical Reports Server (NTRS)

    Lee, K. T.; Andersen, V.; Atwell, W.; Cleghorn, T.; Cucinotta, F.; Pinsky, L.; Saganti, P.; Turner, R.; Zeitlin, C.

    2003-01-01

    The charged particle spectrum for nuclei from protons to neon, (charge Z=10) has been observed during the cruise phase and in orbit around Mars by the MARIE charge particle spectrometer aboard the Odyssey spacecraft. The cruise data was taken between April 23, 2001 and August 11, 2001. The Mars orbit data was taken from March 5, 2002 through December 2002. Both the cruise data set and the orbital data set are compared with the simultaneous observations made by the CRIS instrument aboard the ACE space-craft, located at L1. Any detectable differences between the two spacecraft data sets could lead to the understanding of the radial dependence of solar modulation.

  7. Geothermal heating project at St. Mary's Hospital, Pierre, South Dakota. Final report

    SciTech Connect

    Not Available

    1984-12-01

    St. Mary's Hospital, Pierre, South Dakota, with the assistance of the US Department of Energy, drilled a 2176 ft well into the Madison Aquifer ot secure 108/sup 0/F artesian flow water at 385 gpm (475 psig shut-in pressure). The objective was to provide heat for domestic hot water and to space heat 163,768 sq. ft. Cost savings for the first three years were significant and, with the exception of a shutdown to replace some corroded pipe, the system has operated reliably and continuously for the last four years.

  8. The intellectual legacy of Mary Neth's work on farm women and rural communities.

    PubMed

    Osterud, Grey

    2009-01-01

    Mary Neth's 1995 book, "Preserving the Family Farm: Women, Community, and the Foundations of Agribusiness in the Midwest, 1900-1940," made a major contribution to the analysis of the connections between gender and the political economy that shaped farm women's lives and fueled farmers' resistance to the transformation of rural life wrought by agribusiness. Focusing on the processes of negotiation between women and men in farming families and rural communities, Neth illuminated the relationship between women's work and their power. Tracing the dense networks that connected farm families, she also showed how cooperation in work generated and sustained radical farm movements.

  9. Replica Analysis of Multiuser Detection for Code Division Multiple Access with M-Ary Phase-Shift Keying

    NASA Astrophysics Data System (ADS)

    Kato, Hiroyuki; Okada, Masato; Miyoshi, Seiji

    2013-07-01

    We analyze the performance of the maximizer of the posterior marginals (MPM) detector for code division multiple access (CDMA) multiuser detection with M-ary phase shift keying (M-ary PSK) in the large system limit by the replica method. The obtained theory agrees with computer simulation reasonably well. We also derive the theory in the case of the large M limit and discuss the dependence of the properties of M-ary PSK CDMA communication on M. We show that the waterfall phenomenon occurs for both the finite and infinite values of M. We also show that a value of M for which the decoded phase information on the original user symbol becomes minimum exists. Furthermore, we discuss the relationship between the theory based on the replica method and that based on self-consistent signal-to-noise analysis (SCSNA).

  10. Tectonomorphic evolution of Marie Byrd Land - Implications for Cenozoic rifting activity and onset of West Antarctic glaciation

    NASA Astrophysics Data System (ADS)

    Spiegel, Cornelia; Lindow, Julia; Kamp, Peter J. J.; Meisel, Ove; Mukasa, Samuel; Lisker, Frank; Kuhn, Gerhard; Gohl, Karsten

    2016-10-01

    The West Antarctic Rift System is one of the largest continental rifts on Earth. Because it is obscured by the West Antarctic Ice Sheet, its evolution is still poorly understood. Here we present the first low-temperature thermochronology data from eastern Marie Byrd Land, an area that stretches 1000 km along the rift system, in order to shed light on its development. Furthermore, we petrographically analysed glacially transported detritus deposited in the marine realm, offshore Marie Byrd Land, to augment the data available from the limited terrestrial exposures. Our data provide information about the subglacial geology, and the tectonic and morphologic history of the rift system. Dominant lithologies of coastal Marie Byrd Land are igneous rocks that intruded (presumably early Paleozoic) low-grade meta-sedimentary rocks. No evidence was found for un-metamorphosed sedimentary rocks exposed beneath the ice. According to the thermochronology data, rifting occurred in two episodes. The earlier occurred between 100 and 60 Ma and led to widespread tectonic denudation and block faulting over large areas of Marie Byrd Land. The later episode started during the Early Oligocene and was confined to western Pine Island Bay area. This Oligocene tectonic activity may be linked kinematically to previously described rift structures reaching into Bellingshausen Sea and beneath Pine Island Glacier, all assumed to be of Cenozoic age. However, our data provide the first direct evidence for Cenozoic tectonic activity along the rift system outside the Ross Sea area. Furthermore, we tentatively suggest that uplift of the Marie Byrd Land dome only started at 20 Ma; that is, nearly 10 Ma later than previously assumed. The Marie Byrd Land dome is the only extensive part of continental West Antarctica elevated above sea level. Since the formation of a continental ice sheet requires a significant area of emergent land, our data, although only based on few samples, imply that extensive

  11. Unusual Rebuilding Method of Historic St Mary's Cathedral in the Capital of Western Australia

    NASA Astrophysics Data System (ADS)

    Wysokowski, Adam

    2016-06-01

    St Mary's Cathedral is the Archbishop church of the Archdiocese in Perth in Western Australia. The presented sacral building was built in neo-Gothic style during the years 1863-1865. Cathedral was officially dedicated and opened for the service on 29th January, 1865. In 1973 was proclaimed the Marian Sanctuary and now represents one of the largest religious facilities in Perth. In 2005, the city authorities, together with the Archdiocese took a collective decision on the necessity of a comprehensive renovation of this sacred object. The renovation was due to the technical condition and the lack of usability of the object. The author of the paper had the opportunity to experience these problems by visiting this place several times, first time in 1989 and next years. Thus, the renovation of the present Cathedral was in its assumption not only to perform maintenance of the building and its specific architectural elements but also to increase its functional features - usable for the faithful and tourists. Reconstruction of St Mary's Cathedral in Perth can be a good example increasing the wider functionality of such facilities while keeping their antique and historical qualities. In this paper the above-mentioned issues will be more widely developed by the author.

  12. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q

    SciTech Connect

    Kwon, J.M.; Elliott, J.L.; Yee, W.C.

    1995-10-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. The neuronal form of this disorder is referred to as Charcot-Marie-Tooth type II disease (CMT2). CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy. In some families, the locus that predisposes to CMT2 has been demonstrated to map to the distal portion of the short arm of chromosome 1. Other families with CMT2 do not show linkage with 1p markers, suggesting genetic heterogeneity in CMT2. We investigated linkage in a single large kindred with autosomal dominant CMT2. The gene responsible for CMT2 in this kindred (CMT2B) was mapped to the interval between the microsatellite markers D3S1769 and D3S1744 in the 3q13-22 region. Study of additional CMT2 kindreds should serve to further refine the disease gene region and may ultimately lead to the identification of a gene defect that underlies the CMT2 phenotype. 21 refs., 3 figs., 1 tab.

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

    PubMed Central

    Høyer, Helle; Braathen, Geir J.; Eek, Anette K.; Nordang, Gry B. N.; Skjelbred, Camilla F.; Russell, Michael B.

    2015-01-01

    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. PMID:25648254

  14. Stratigraphy, sedimentology, and petrology of Upper Cretaceous Horsethief and St. Mary River formations, western Montana

    SciTech Connect

    Fairhurst, W.

    1983-03-01

    The Horsethief and St. Mary River formations were deposited along the Late Cretaceous epicontinental seaway, which then covered much of the western interior. The Horsethief, lower of the two formations, is divided into two facies sequences. Facies sequence A consist of coarsening-upward sequences of sandstones and interbedded shales. These facies comprise a barrier island system consisting of shoreface, dune, tidal channel, and lagoonal environments. Facies sequence B, deposited along the depositional strike, consists of a coarsening-upward sequence of vertically stacked distributary channels that thicken and become more abundant upsection. The St. Mary River Formation is divided into a lower and upper member. The lower member consists of shales, sandstones, limestones, and coals deposited in a lagoon landward of the barrier island system. The upper member contains trough cross-bedded, channel sandstones, overbank sandstones, shales, and carbonate-nodule horizons indicative of fluvial plain sedimentation. Petrographic analysis indicates the detritus of these formations was derived from a magmatic are provenance. Statistically significant correlations document a decrease in grain size as the distance of sediment transport increases within the entire section and within distinct environments, including middle shoreface, upper shoreface, and dune facies. The high percentage of volcanic constituents decreases as the distance of sediment transport increases and the grain size decreases. The recognition of these facies is significant because of the potentially important application associated with hydrocarbon source and reservoir conditions, as well as heavy mineral assemblages.

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

    PubMed

    Murphy, Sinéad M; Herrmann, David N; McDermott, Michael P; Scherer, Steven S; Shy, Michael E; Reilly, Mary M; Pareyson, Davide

    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.

  16. Zonation of mayfly nymphs and caddisfly larvae in the St. Marys River

    USGS Publications Warehouse

    Schloesser, Donald W.

    1988-01-01

    Sampling of benthos at 166 stations in the lower two-thirds of the St. Marys River in 1974 and 1975 yielded a total of 9 mayfly and 20 caddisfly genera. Densities of mayflies (primarily the pollution sensitive Hexagenia) ranged from 0 to more than 2,000/m2 and caddisflies (primarily Polycentropus) from 0 to 744/m2 in individual samples. No mayflies were collected in a 20 km section of the river extending from below Sault Ste. Marie, Ontario, to the head of Lake George – an area previously identified by the International Joint Commission as having been “degraded” by industrial wastes. In three sections of the river progressively farther downstream from the degraded section, the average numbers of mayfly nymphs increased from 36 to 264 to 457/m2; and in three other non-degraded sections of the river, the range was 127 to 341/m2. Densities of caddisfly larvae were low (4/m2) in the degraded section of the river that was devoid of mayflies and ranged from 7 to 1017m2 in non-degraded sections. Average densities for all stations combined were 220/m2 for mayflies and 34/m2 for caddisflies.

  17. Oil degradation and biosurfactant production by the deep sea bacterium Dietzia maris As-13-3

    PubMed Central

    Wang, Wanpeng; Cai, Bobo; Shao, Zongze

    2014-01-01

    Recent investigations of extreme environments have revealed numerous bioactive natural products. However, biosurfactant-producing strains from deep sea extreme environment are largely unknown. Here, we show that Dietzia maris As-13-3 isolated from deep sea hydrothermal field could produce di-rhamnolipid as biosurfactant. The critical micelle concentration (CMC) of the purified di-rhamnolipid was determined to be 120 mgL−1, and it lowered the surface tension of water from 74 ± 0.2 to 38 ± 0.2 mN m−1. Further, the alkane metabolic pathway-related genes and di-rhamnolipid biosynthesis-related genes were also analyzed by the sequencing genome of D. maris As-13-3 and quantitative real-time PCR (Q-PCR), respectively. Q-PCR analysis showed that all these genes were induced by n-Tetradecane, n-Hexadecane, and pristane. To the best of our knowledge, this is first report about the complete pathway of the di-rhamnolipid synthesis process in the genus Dietzia. Thus, our study provided the insights into Dietzia in respects of oil degradation and biosurfactant production, and will help to evaluate the potential of Dietzia in marine oil removal. PMID:25566224

  18. THE DEAD-LIVING-MOTHER: MARIE BONAPARTE'S INTERPRETATION OF EDGAR ALLAN POE'S SHORT STORIES.

    PubMed

    Obaid, Francisco Pizarro

    2016-06-01

    Princess Marie Bonaparte is an important figure in the history of psychoanalysis, remembered for her crucial role in arranging Freud's escape to safety in London from Nazi Vienna, in 1938. This paper connects us to Bonaparte's work on Poe's short stories. Founded on concepts of Freudian theory and an exhaustive review of the biographical facts, Marie Bonaparte concluded that the works of Edgar Allan Poe drew their most powerful inspirational force from the psychological consequences of the early death of the poet's mother. In Bonaparte's approach, which was powerfully influenced by her recognition of the impact of the death of her own mother when she was born-an understanding she gained in her analysis with Freud-the thesis of the dead-living-mother achieved the status of a paradigmatic key to analyze and understand Poe's literary legacy. This paper explores the background and support of this hypothesis and reviews Bonaparte's interpretation of Poe's most notable short stories, in which extraordinary female figures feature in the narrative.

  19. Oral Health and Frailty in the Medieval English Cemetery of St. Mary Graces

    PubMed Central

    DeWitte, Sharon N.; Bekvalac, Jelena

    2011-01-01

    The analysis of oral pathologies is routinely a part of bioarchaeological and paleopathological investigations. Oral health, while certainly interesting by itself, is also potentially informative about general or systemic health. Numerous studies within modern populations have shown associations between oral pathologies and other diseases, such as cardiovascular disease, certain types of cancer, and pulmonary infections. This paper addresses the question of how oral health was associated with general health in past populations by examining the relationship between two oral pathologies (periodontal disease and dental caries) and the risk of mortality in a cemetery sample from medieval England. The effects of periodontitis and dental caries on risk of death were assessed using a sample of 190 individuals from the St. Mary Graces, London cemetery dating to approximately A.D. 1350–1538. The results suggest that the oral pathologies are associated with elevated risks of mortality in the St. Mary Graces cemetery, such that individuals with periodontitis and dental caries were more likely to die than their peers without such pathologies. The results shown here suggest that these oral pathologies can be used as informative indicators of general health in past populations. PMID:19927365

  20. Active Regions on the Farside of the Sun as Seen from Mars: 3D Visualization with Marie Data

    NASA Technical Reports Server (NTRS)

    Saganti, P. B.; Cueinotra, F. A.; Cleghorn, T. F.; Zeitlin, C. J.

    2004-01-01

    From March 2002, the MARIE (Martian Radiation Environment Experiment) instrument of NASA-JSC onboard the 2001 Mars Odyssey spacecraft has been providing radiation data from the Martian orbit. During the past two years, the orbit alignment of Mars-Sun-Earth provided a wealth of opportunity between 180 degrees (August 2002) and 0 degrees (October 2003). During this time, the MARIE data included the background GCR (Galactic Cosmic Rays) and several SPE (Solar Particle Events) enhanced radiation dose-rate measurements at Mars. The MARIE instrument provided a unique data set of radiation dose-rate at Mars from the active regions on the solar disk facing the Mars side. The SPE observations of October 2002 at Mars by the MARIE instrument are unique and there were no indications of these events towards the Earth at that time. Nearly 40 times increase in the quiet-time GCR dose-rate was noted from about 25 mradday to nearly 1000 mradday at Mars. Radiation dose-rate enhancement was not observed toward the Earth or in the Low Earth Orbit (LEO) during this time. Understanding the active regions on the Sun that are likely to result into SPE on the far side will also be of concern for future deep space explorations beyond LEO. We present the observations of these SPE enhanced dose rates due to the active regions from the far side of the Sun with the 3D visualization of solar disks facing Mars and Earth.

  1. Probing the Human Brain with Stimulating Electrodes: The Story of Roberts Bartholow's (1874) Experiment on Mary Rafferty

    ERIC Educational Resources Information Center

    Harris, Lauren Julius; Almerigi, Jason B.

    2009-01-01

    Roberts Bartholow's 1874 experiment on Mary Rafferty is widely cited as the first demonstration, by direct application of stimulating electrodes, of the motor excitability of the human cerebral cortex. The many accounts of the experiment, however, leave certain questions and details unexamined or unresolved, especially about Bartholow's goals, the…

  2. Zora Neale Hurston's "Their Eyes Were Watching God" and the Influence of Jens Peter Jacobsen's "Marie Grubbe."

    ERIC Educational Resources Information Center

    Woodson, Jon

    1992-01-01

    Argues that Harlem Renaissance literary figure, Zora Neale Hurston, may have written her novel of a three-times married woman, "Their Eyes Were Watching God," under the influence of and in response to "Marie Grubbe," a novel by a nineteenth-century Danish man. (JB)

  3. Teaching Eighteenth-Century Poetic Satire with a Competency-Based Approach: Jonathan Swift and Lady Mary Wortley Montagu

    ERIC Educational Resources Information Center

    Modia, María Jesús Lorenzo; Álvarez, Begoña Lasa

    2011-01-01

    The purpose of this essay is to analyse the teaching of literature with a competency-based approach. This is exemplified by means of a thorough study of a poetic duel between two relevant eighteenth-century writers, Jonathan Swift and Lady Mary Wortley Montagu, and more specifically, by means of the satires entitled respectively "The Lady's…

  4. Pedagogy and Sex: Mary Dendy (1855-1933), Feeble-Minded Girls and the Sandlebridge Schools, 1902-33

    ERIC Educational Resources Information Center

    Goodman, Joyce

    2005-01-01

    Mary Dendy has received attention from historians because she was the first paid commissioner under the Board of Control (the administrative body that regulated the 1913 Mental Deficiency Act), was at the forefront in disseminating views regarding the sexual proclivities of feeble-minded women and because she advocated permanent segregated care…

  5. To Bring into Play: Miss Mary Richmond's Utilization of Kindred Networks in the Diffusion of Kindergarten Ideals into Practice

    ERIC Educational Resources Information Center

    Bethell, Kerry

    2006-01-01

    In the setting up of kindergarten systems in colonial New Zealand over the late nineteenth century, kindergarten founders such as Miss Mary Richmond in Wellington developed global links with kindergarten movements in a number of countries including England. This article examines the nature and significance of two key global interconnected networks…

  6. Mary Mapes Dodge and "St. Nicholas": The Development of a Philosophy and Practice of Publishing for Young People.

    ERIC Educational Resources Information Center

    Fuller, Lawrence B.

    The life of Mary Mapes Dodge, author of "Hans Brinker or the Silver Skates," a pioneer in the field of literature for children and adolescents during the nineteenth century, is recounted in this paper--from her childhood as the daughter of a well-connected but impecunious lecturer, scientist, and inventor through her later years as a…

  7. Mary Braddon's "Good Lady Ducayne" in Context(s): Victorian Medicine, Literary Gothicism, and 21st Century Feminist Pedagogy

    ERIC Educational Resources Information Center

    Wooden, Shannon R.

    2007-01-01

    Mary Elizabeth Braddon's novels and stories exemplify some of the main issues surrounding women's texts and their place in literature: aesthetic value, intellectual challenge, universality, and contemporary popularity. Her work, it may be argued, betrays occasional aesthetic imperfections; however, she produced a tremendous amount of published…

  8. Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice.

    PubMed

    Klein, Dennis; Patzkó, Ágnes; Schreiber, David; van Hauwermeiren, Anemoon; Baier, Michaela; Groh, Janos; West, Brian L; Martini, Rudolf

    2015-11-01

    See Scherer (doi:10.1093/awv279) for a scientific commentary on this article.Charcot-Marie-Tooth type 1 neuropathies are inherited disorders of the peripheral nervous system caused by mutations in Schwann cell-related genes. Typically, no causative cure is presently available. Previous preclinical data of our group highlight the low grade, secondary inflammation common to distinct Charcot-Marie-Tooth type 1 neuropathies as a disease amplifier. In the current study, we have tested one of several available clinical agents targeting macrophages through its inhibition of the colony stimulating factor 1 receptor (CSF1R). We here show that in two distinct mouse models of Charcot-Marie-Tooth type 1 neuropathies, the systemic short- and long-term inhibition of CSF1R by oral administration leads to a robust decline in nerve macrophage numbers by ∼70% and substantial reduction of the typical histopathological and functional alterations. Interestingly, in a model for the dominant X-linked form of Charcot-Marie-Tooth type 1 neuropathy, the second most common form of the inherited neuropathies, macrophage ablation favours maintenance of axonal integrity and axonal resprouting, leading to preserved muscle innervation, increased muscle action potential amplitudes and muscle strengths in the range of wild-type mice. In another model mimicking a mild, demyelination-related Charcot-Marie-Tooth type 1 neuropathy caused by reduced P0 (MPZ) gene dosage, macrophage blockade causes an improved preservation of myelin, increased muscle action potential amplitudes, improved nerve conduction velocities and ameliorated muscle strength. These observations suggest that disease-amplifying macrophages can produce multiple adverse effects in the affected nerves which likely funnel down to common clinical features. Surprisingly, treatment of mouse models mimicking Charcot-Marie-Tooth type 1A neuropathy also caused macrophage blockade, but did not result in neuropathic or clinical improvements

  9. Flood-inundation maps for the St. Marys River at Fort Wayne, Indiana

    USGS Publications Warehouse

    Menke, Chad D.; Kim, Moon H.; Fowler, Kathleen K.

    2012-01-01

    Digital flood-inundation maps for a 9-mile reach of the St. Marys River that extends from South Anthony Boulevard to Main Street at Fort Wayne, Indiana, were created by the U.S. Geological Survey (USGS) in cooperation with the City of Fort Wayne. The inundation maps, which can be accessed through the USGS Flood Inundation Mapping Science Web site, depict estimates of the areal extent of flooding corresponding to selected water levels (stages) at the USGS streamgage 04182000 St. Marys River near Fort Wayne, Ind. Current conditions at the USGS streamgages in Indiana may be obtained from the National Water Information System: Web Interface. In addition, the information has been provided to the National Weather Service (NWS) for incorporation into their Advanced Hydrologic Prediction Service (AHPS) flood warning system. The NWS forecasts flood hydrographs at many places that are often collocated at USGS streamgages. That forecasted peak-stage information, also available on the Internet, may be used in conjunction with the maps developed in this study to show predicted areas of flood inundation. In this study, water-surface profiles were simulated for the stream reach by means of a hydraulic one-dimensional step-backwater model. The model was calibrated using the most current stage-discharge relation at the USGS streamgage 04182000 St. Marys River near Fort Wayne, Ind. The hydraulic model was then used to simulate 11 water-surface profiles for flood stages at 1-ft intervals referenced to the streamgage datum and ranging from bankfull to approximately the highest recorded water level at the streamgage. The simulated water-surface profiles were then combined with a geographic information system digital elevation model (derived from Light Detection and Ranging (LiDAR) data) in order to delineate the area flooded at each water level. A flood inundation map was generated for each water-surface profile stage (11 maps in all) so that for any given flood stage users will be

  10. New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.

    PubMed

    Noriega, Elizabeth; Ramos, Edwardo

    2013-12-01

    Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy caused by mutations in more than 30 different genes. One of the genes encodes for periaxin (PRX) protein, which is required for the maintenance of peripheral nerve myelin. Individuals with PRX gene mutations have been described to present early-onset, autosomal recessive, demyelinating CMT disease or CMT4F subtype. Only 23 mutations involving the PRX gene have been reported in patients throughout the world. We describe a case of a Puerto Rican adolescent with history, neurologic examination, electromyographic data, and laboratory tests consistent with CMT4F. Genetic analysis of this individual showed a heterozygous transversion resulting in amino acid change from arginine to glycine in the PRX gene, suggesting CMT4F. We report this novel PRX mutation to expand the clinical spectrum of CMT disease.

  11. A Review of X-linked Charcot-Marie-Tooth Disease.

    PubMed

    Wang, Ying; Yin, Fei

    2016-05-01

    X-linked Charcot-Marie-Tooth disease (CMTX) is the second common genetic variant of CMT. CMTX type 1 causes 90% of CMTX. The most important clinical features of CMTX are similar with other types of CMT; however, a few patients get the central nervous system involved with or without white matter lesions; males are more severely and earlier affected than females. In this review, the authors focus on the origin and classification of CMTX, the central nervous system manifestations of CMTX1, the possible mechanism by which GJB1 mutations cause CMT1X, and the emerging therapeutic strategies for CMTX. Moreover, several cases are presented to illustrate the central nervous system manifestations.

  12. [Therapy for Charcot-Marie-Tooth Disease: From the Standpoint of Neurologists].

    PubMed

    Nakagawa, Masanori

    2016-01-01

    To date, there is no approved pharmacologic treatment for any form of Charcot-Marie-Tooth disease (CMT). However, some clinical or preclinical trials for CMT1A have been undertaken, for example Neurotrophin-3, PXT3003, and neuregulin-1. Gene therapy for CMT1X, CMT2F and Giant axonal neuropathy using animal model or culture cells have been reported with some interesting results. Stem cell research for example iPS cells derived from patients with CMT2A or CMT2E, is being conducted to clarify the mechanism of CMT and find therapeutic clues. The development of new surrogate markers for clinical trials is also needed. Additionally, steps should be taken to improve the quality of life of patients with CMT, including pain control and life style enhancement.

  13. Charcot-Marie-Tooth disease and pathways to molecular based therapies.

    PubMed

    Harel, T; Lupski, J R

    2014-11-01

    The discovery in 1991 that chromosome 17p12 duplication is associated with Charcot-Marie-Tooth (CMT) disease marked the beginning of an era of molecular insight into this disorder, which encompasses the peripheral motor and sensory neuropathies. A mere two decades later, over 40 subtypes of CMT have been molecularly defined and many have been extensively studied in vitro and in animal models, providing the framework for a more comprehensive understanding of the biological pathways dictating myelination, axonal dynamics, and axon-glia interactions. The advent of next-generation sequencing technologies offers opportunities in both research and clinical settings for gene discovery, further molecular understanding and diagnosis, and calls for modifications of the existing algorithms guiding genetic testing. Although treatment is mainly supportive at this time, advances in this field are anticipated as the molecular basis of CMT is unraveled.

  14. Anesthetic Management of a Patient With Charcot-Marie-Tooth Disease.

    PubMed

    Ohshita, Naohiro; Oka, Saeko; Tsuji, Kaname; Yoshida, Hiroaki; Morita, Shosuke; Momota, Yoshihiro; Tsutsumi, Yasuo M

    2016-01-01

    Charcot-Marie-Tooth disease (CMTD) is a hereditary peripheral neuropathy and is characterized by progressive muscle atrophy and motor-sensory disorders in all 4 limbs. Most reports have indicated that major challenges with general anesthetic administration in CMTD patients are the appropriate use of nondepolarizing muscle relaxants and preparation for malignant hyperthermia in neuromuscular disease. Moderate sedation may be associated with the same complications as those of general anesthesia, as well as dysfunction of the autonomic nervous system, reduced perioperative respiratory function, difficulty in positioning, and sensitivity to intravenous anesthetic agents. We decided to use intravenous sedation in a CMTD patient and administered midazolam initially and propofol continuously, with total doses of 1.5 mg and 300 mg, respectively. Anesthesia was completed in 3 hours and 30 minutes without adverse events. We suggest that dental anesthetic treatment with propofol and midazolam may be effective for patients with CMTD.

  15. De novo mutation of Charcot-Marie-Tooth disease type 1A.

    PubMed

    Tachi, N; Kozuka, N; Ohya, K; Chiba, S

    1997-07-01

    Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). We report a male patient with a de novo CMT 1A diagnosed on clinical, electrophysiologic, and molecular grounds. Motor nerve conduction velocity (MCV) of the patient was 10.9 m/s in the ulnar nerve. The MCV of both his parents was within the normal range. Southern blot analysis of BamHI digestion showed reduced intensity rate of SF85/PMP-22, indicating CMT 1A duplication. Haplotype analysis with pVAW4093a, demonstrated that the de novo CMT 1A duplication was of paternal origin.

  16. Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve

    PubMed Central

    Kwon, Joo Young; Chung, Ki Wha; Park, Eun Kyung; Park, Sun Wha

    2009-01-01

    We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12 (PMP22 gene duplication). A schwannoma is a benign encapsulated tumor originating from a Schwann cell. A case of hereditary neuropathy with liability to pressure palsies (HNPP) concurrent with schwannoma has been previously reported. Although it seems that the co-occurrence of CMT1A and schwannomas in a family would be the result of independent events, we could not completely ignore the possibility that the coincidence of two diseases might be due to a shared genetic background. PMID:19654968

  17. Not just malaria: Mary Slessor (1848-1915) and other Victorian missionaries in West Africa.

    PubMed

    Hardage, Jeanette

    2006-11-01

    Fear of 'fever' was uppermost in the minds of many travellers to West Africa in Victorian times. 'Not just malaria...' chronicles attitudes, treatments and discoveries regarding malaria from the time of David Livingstone through the early 20th century. Missionaries often found themselves in the position of serving as untrained doctors and nurses among the people they went to evangelize. In addition, they suffered from the same maladies as the people did, and many died from malaria or other afflictions. Mary Slessor arrived in Calabar, in what is now southeastern Nigeria, to serve with the Scottish Presbyterian Mission in 1876. With only a few furloughs, she remained there until her death in 1915. The article relates instances of the illnesses and injuries she treated as well as those she suffered herself. She is remembered in Nigeria with statues and, along with David Livingstone, is one of Scotland's best-known missionary figures.

  18. Connexin mutations in X-linked Charcot-Marie-Tooth disease

    SciTech Connect

    Bergoffen, J. ); Scherer, S.S.; Wang, S.; Scott, M.; Bone, L.J.; Chen, K.; Lensch, M.W.; Fischbeck, K.H. ); Paul, D.L. ); Change, P.F. )

    1993-12-24

    X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry techniques, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.

  19. Marriage and the family in a Maltese parish: St. Mary's (Qrendi) in the eighteenth century.

    PubMed

    Ciappara, Frans

    2011-01-01

    This article addresses the Maltese traditional family, taking St. Mary's (Qrendi) as a test case. It results that couples married in their early twenties, while a high proportion of men and women never married at all. Marriage was not popular so that one-fifth of all marriages were remarriages. Very few widows remarried and it was only for some economic reason that they sought another man. There is no evidence though that a high rate of celibacy resulted in flagrant promiscuity even if there is evidence that the Qrendin were not so particular about their sex life. No birth control was practiced within marriage and children followed one another regularly. This brings into relief the parents' unconcern for their offspring's future as well as the inferior status of women because husbands made their wives several offspring. Relations between the spouses were poor so that dissatisfied couples went their own ways.

  20. [Mary Shelley's Frankenstein and Bram Stoker's Dracula: gender and science in literature].

    PubMed

    de La Rocque, L

    2001-01-01

    Throughout the ages, literary works have expressed fears and expectations generated by scientific discoveries and have portrayed images and myths about science itself. Several parameters can contribute to these representations of science, including the culture and social class to which the authors of these works belong. We also cannot deny the influence of gender, as due to the fact that the male sphere of action dominates science, male or female authoring can determine a peculiar characterization of the scientific world. In the present work, through a comparative analysis of two important literary works from the 19th century, Frankenstein, by Mary Shelley, and Dracula, by Bram Stoker, the issues concerning the view of science and their relation to gender are highlighted. While Shelley, as a woman, apart from the scientific world, reveals in Frankenstein all her distrust about it, Stoker, the model of a Victorian man, expresses in Dracula his total trust in science.

  1. Anesthetic Management of a Patient With Charcot-Marie-Tooth Disease

    PubMed Central

    Ohshita, Naohiro; Oka, Saeko; Tsuji, Kaname; Yoshida, Hiroaki; Morita, Shosuke; Momota, Yoshihiro; Tsutsumi, Yasuo M.

    2016-01-01

    Charcot-Marie-Tooth disease (CMTD) is a hereditary peripheral neuropathy and is characterized by progressive muscle atrophy and motor-sensory disorders in all 4 limbs. Most reports have indicated that major challenges with general anesthetic administration in CMTD patients are the appropriate use of nondepolarizing muscle relaxants and preparation for malignant hyperthermia in neuromuscular disease. Moderate sedation may be associated with the same complications as those of general anesthesia, as well as dysfunction of the autonomic nervous system, reduced perioperative respiratory function, difficulty in positioning, and sensitivity to intravenous anesthetic agents. We decided to use intravenous sedation in a CMTD patient and administered midazolam initially and propofol continuously, with total doses of 1.5 mg and 300 mg, respectively. Anesthesia was completed in 3 hours and 30 minutes without adverse events. We suggest that dental anesthetic treatment with propofol and midazolam may be effective for patients with CMTD. PMID:27269665

  2. Sister Mary Joseph nodule as the presenting sign of disseminated prostate carcinoma.

    PubMed

    Deb, Prabal; Rai, Radhey Shyam; Rai, Rahul; Gupta, Ekawali; Chander, Yogesh

    2009-01-01

    Sister Mary Joseph's nodule is referred to as metastasis of visceral malignancy to the umbilicus. Most common primaries are in the gastrointestinal or genital tract, while other locations are rare. We recently encountered a 76-year-old male who was referred to the surgery clinic with an erythematous nodule in the umbilicus measuring 6 cm in diameter with complaints of painless profuse hematuria. History revealed severe obstructive voiding symptoms of 2-year duration, along with significant loss of weight and difficulty in walking. A detailed examination showed hard nodular hepatomegaly, along with grade IV prostatomegaly. Serum prostate-specific antigen was 3069 ng/ml. A pelvic radiograph displayed multiple osteolytic lesions, while ultrasonography showed multiple iso- and hypoechoic lesions in both lobes of the liver, suggestive of metastasis. Histopathology of a Tru-cut biopsy of the prostate confirmed an adenocarcinoma (Gleason score 9) with umbilical metastasis. The patient was on regular follow-up and died 3 months later.

  3. OptoRadio: a method of wireless communication using orthogonal M-ary PSK (OMPSK) modulation

    NASA Astrophysics Data System (ADS)

    Gaire, Sunil Kumar; Faruque, Saleh; Ahamed, Md. Maruf

    2016-09-01

    Laser based radio communication system, i.e. OptoRadio, using Orthogonal M-ary PSK Modulation scheme is presented in this paper. In this scheme, when a block of data needs to be transmitted, the corresponding block of biorthogonal code is transmitted by means of multi-phase shift keying. At the receiver, two photo diodes are cross coupled. The effect is that the net output power due to ambient light is close to zero. The laser signal is then transmitted only into one of the receivers. With all other signals being cancelled out, the laser signal is an overwhelmingly dominant signal. The detailed design, bit error correction capabilities, and bandwidth efficiency are presented to illustrate the concept.

  4. Standards of radium-226: from Marie Curie to the International Committee for Radionuclide Metrology.

    PubMed

    Coursey, B M; Collé, R; Coursey, J S

    2002-01-01

    In the early part of the 20th century, the pioneers of radioactivity research, led by Marie Curie, Ernest Rutherford and Stefan Meyer, formed a Commission internationale des étalons de radium. The Commission made arrangements for the preparation and intercomparisons of the international standards of radium, which were identified as the Paris standard and the Vienna standard. Otto Hönigschmid from Vienna prepared a first set of international secondary standards in 1912 and a second set in 1934. In both instances, these secondary standards were compared by gamma-ray measurements with the Paris and Vienna standards. The usage of these international standards of radium in the 20th century is described.

  5. Mary Edwards Walker, M.D.: a feminist physician a century ahead of her time.

    PubMed

    Spiegel, A D; Suskind, P B

    1996-06-01

    In her teens, Mary Edwards Walker already wore the "bloomer" outfit began to campaign for reforming the "unhygienic" clothing of women. Assertively, she attended medical school and earned her M.D. degree. Due to prejudice, her practice did not flourish and she moved to Washington to offer her medical services to the Union as the Civil War began. Rebuffed by the male medical bureaucrats, she volunteered her services anyway. Eventually, she was awarded the Congressional Medal of Honor, the only women to ever gain such distinction. After the war, Walker became a journalist, an author of two sensational books, a political lobbyist, a suffrage campaigner, a professional and public lecturer, an ardent dress reformer, a peace activist, a Utopianist and a women's right advocate. Light-years ahead of her times, Dr. Walker was an intelligent, independent, irrepressible and indefatigable proponent for a host of worthy causes.

  6. Mineralogy, paragenesis and genesis of the braunite deposits of the Mary Valley Manganese Belt, Queensland, Australia

    NASA Astrophysics Data System (ADS)

    Ostwald, J.

    1992-09-01

    The Mary Valley manganese deposits exhibit mineralogy and textures characteristic of at least four parageneses. The deposits consist mainly of isolated occurrences of braunite, together with a number of lower and higher valency manganese oxides, and manganese silicates, in bedded radiolarian cherts and jaspers of Permian age. The parageneses are: (a) Braunite — quartz (primary), (b) Braunite — hausmannite — spessartine — tephroite — quartz (metamorphic). (c) Hydrated manganese silicates — barite — braunite — hausmannite (hydrothermal veins), (d) Tetravalent manganese oxides (pyrolusite, cryptomelane, manjiroite, nsutite) (supergene). The primary mineralisation is interpreted as the result of the geochemical separation of Mn from Fe in a submarine exhalative system, and the precipitation of Mn as oxide within bedded radiolarian oozes and submarine lavas. During diagenesis this hydrothermal manganese oxide reacted with silica to produce primary braunite. The later geological of evolution of this volcanogenicsedimentary deposit involved metamorphism, hydrothermal veining by remobilised manganese, and supergene enrichment.

  7. Analysis of coastal change in Marie Byrd Land and Ellsworth Land, West Antarctica, using Landsat imagery

    USGS Publications Warehouse

    Ferrigno, J.G.; Williams, R.S.; Rosanova, C.E.; Lucchitta, B.K.; Swithinbank, C.

    1998-01-01

    The U.S. Geological Survey is using Landsat imagery from the early 1970s and mid- to late 1980s/early 1990s to analyze glaciological features, compile a glacier inventory, measure surface velocities of outlet glaciers, ice streams and ice shelves, determine coastline change and calculate the area and volume of iceberg calving in Antarctica. Ice-surface velocities in Marie Byrd and Ellsworth Lands, West Antarctica, range from the fast-moving Thwaites, Pine Island, Land and DeVicq Glaciers to the slower-moving ice shelves. The average ice-front velocity during the time interval of Landsat imagery, for the faster-moving outlet glaciers, was 2.9 km a-1 for Thwaites Glacier, 2.4 km a-1 for Pine Island Glacier, 2.0 km a-1 for Land Glacier and 1.4 km a-1 for DeVicq Glacier. Evaluation of coastal change from the early 1970s to the early 1990s shows advance of the floating ice front in some coastal areas and recession in others, with an overall small average advance in the entire coastal study area, but no major trend towards advance or retreat. Comparison of average ice-surface velocities with changes in the ice front has yielded estimates of iceberg calving. The total iceberg calving from the Marie Byrd Land and Ellsworth Land coasts during the study period was greater than 8500 km2 (estimated volume of about 2400 km3) or an average of about 550 km2 a-1 (more than 150 km3 a-1). Almost 70% of this discharge is contributed by Thwaites and Pine Island Glaciers.

  8. Temporal and Spatial Variation of Surface Water Stable Isotopes in the Marys River Basin, Oregon

    NASA Astrophysics Data System (ADS)

    Nickolas, L. B.; Segura, C.; Brooks, J. R.

    2015-12-01

    Understanding the temporal and spatial variability of water sources within a basin is vital to our ability to manage the impacts of climate variability and land cover change. Water stable isotopes can be used as a tool to determine geographic and seasonal sources of water at the basin scale. Previous studies in the Coastal Range of Oregon reported that the variation in the isotopic signatures of surface water does not conform to the commonly observed "rainout effect", which exhibits a trend of increasing isotopic depletion with rising elevation. The primary purpose of this research is to investigate the mechanisms governing seasonal and spatial variations in the isotopic signature of surface waters within the Marys River Basin, located in the Oregon Coastal Range. We hypothesize that catchment orientation, drainage area, geology, and topography act as controlling factors on groundwater flow, storage, and atmospheric moisture cycling, which explain variations in source water contribution. Surface water and precipitation samples were collected every 2-3 weeks for isotopic analysis of δ18O and δ2H for one year. Preliminary results indicate a significant difference (p<0.001) in isotopic signature between watersheds underlain by basalt and sandstone. The degree of separation is the most distinct during the summer when low flows likely reflect deeper groundwater sources, whereas isotopic signatures during the rainy season (fall & winter) show a greater degree of similarity between the two lithologies. These findings indicate that the more permeable sandstone formations may be hydrologically connected to enriched water sources on the windward side of the Coastal Range that sustain baseflow within catchments on the leeward side, while streams draining basalt catchments are fed by a more depleted source of water (e.g. precipitation originating within the Marys River Basin).

  9. HUMAN RIGHTS ASSESSMENT IN PARC JEAN MARIE VINCENT, PORT-AU-PRINCE, HAITI

    PubMed Central

    Cullen, Kimberly A.; Ivers, Louise C.

    2014-01-01

    Months after a 7.0 magnitude earthquake hit Port-au-Prince, Haiti, over one million remain homeless and living in spontaneous internally displaced person (IDP) camps. Billions of dollars from aid organizations and government agencies have been pledged toward the relief effort, yet many basic human needs, including food, shelter, and sanitation, continue to be unmet. The Sphere Project, “Humanitarian Charter and Minimum Standards in Disaster Response,” identifies the minimum standards to be attained in disaster response. From a human rights perspective and utilizing key indicators from the Sphere Project as benchmarks, this article reports on an assessment of the living conditions approximately 12 weeks after the earthquake in Parc Jean Marie Vincent, a spontaneous IDP camp in Port-au-Prince. A stratified random sample of households in the camp, proportionate to the number of families living in each sector, was selected. Interview questions were designed to serve as “key indicators” for the Sphere Project minimum standards. A total of 486 interviews were completed, representing approximately 5% of households in each of the five sectors of the camp. Our assessment identified the relative achievements and shortcomings in the provision of relief services in Parc Jean Marie Vincent. At the time of this survey, the Sphere Project minimum standards for access to health care and quantity of water per person per day were being met. Food, shelter, sanitation, and security were below minimum accepted standard and of major concern. The formal assessment reported here was completed by September 2010, and is necessarily limited to conditions in Haiti before the cholera outbreak in October. PMID:21178190

  10. Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series

    PubMed Central

    Souza, Cynthia C.; Hirotsu, Camila; Neves, Eduardo L.A.; Santos, Lidiane C.L.; Costa, Iandra M.P.F.; Garcez, Catarina A.; Nunes, Paula S.; Araujo, Adriano A.S.

    2015-01-01

    Objectives: Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy, and a condition in which sleep has rarely been studied, particularly in relation to the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease. Methods: Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate = 31%). All participants answered sleep questionnaires and came to the sleep laboratory to perform a diagnostic polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated. Results: 56% of the sample were male and 44% female, with a mean age of 32 ± 17 years, of normal weight (body mass index 21 ± 3 kg/m2); 64% presented moderate to severe CMT2. Regarding subjective sleep, 31% had excessive daytime sleepiness and 75% reported poor sleep quality. The PSG results revealed that CMT2 patients had an increase in stage N3 and a reduction in REM sleep, in addition to a high arousal index. Although 81% of the sample were snorers, only 13% had an apnea-hypopnea index (AHI) > 5. However, a positive correlation was found between the severity of disease and the AHI. Conclusions: Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders. Citation: Souza CC, Hirotsu C, Neves EL, Santos LC, Costa IM, Garcez CA, Nunes PS, Araujo AA. Sleep pattern in charcot-marie-tooth disease type 2: report of family case series. J Clin Sleep Med 2015;11(3):205–211. PMID:25515278

  11. [MARY LYON (1925-2014) AND THE RANDOM INACTIVATION OF CHROMOSOME X].

    PubMed

    Sagie, Shira; Monovich, Einat

    2016-03-01

    Since the beginning of the last century, genetic research has been preoccupied with the dosage compensation question: What mechanism controls equal expression of chromosome X genes between females and males? In the 1950s, many discoveries occurred in the field of cytogenetics related to the sex chromatin of female mammals. Concomitantly, genetic information accumulated with regard to expression patterns of X-linked genes in female mice and the expression effect of translocations between chromosome X and autosomes. In addition, many case reports were published about families with sex-linked diseases. The lately deceased scientist Mary F. Lyon suggested a unifying theory of these findings. In her articles "Gene action in the X-chromosome of the mouse (Mus musculus L.T in 1961, and "Sex chromatin and gene action in the mammalian X-chromosome" in 1962, she suggested that: (1) the heteropyknotic chromosome X was genetically inactivated, (2) the inactivated chromosome X could be either paternal or maternal in origin in different cells of the same animal, and (3) the inactivation occurred early in embryonic development. This theory led to an immediate breakthrough in understanding the basic mechanisms responsible for X-linked diseases and solved many unexplained case studies. Moreover, the inquiry of the mechanism of the phenomenon promoted scientific understanding of a wide range of areas in molecular biology such as DNA methylation, the silencing mechanism by XIST, histone modifications, DNA replication timing and more. The current article deals with some biographical details about Mary F. Lyon, the background of her theory, her historical articles and the development of the field since.

  12. FRIDAY: EPA Administrator and Chicago Archbishop to Visit Old St. Marys School in Chicago, Discuss Moral Obligation to Act on Climate

    EPA Pesticide Factsheets

    CHICAGO - Friday, July 24, EPA Administrator Gina McCarthy and Archbishop Blase Cupich, Archbishop of Chicago, will visit Old St. Mary's School in Chicago and hold a media availability to discuss the environmental initiatives of the Ch

  13. Commentary: "Who was caring for Mary?" revisited: a call for all academic physicians caring for patients to focus on systems and quality improvement.

    PubMed

    Southwick, Frederick S; Spear, Steven J

    2009-12-01

    Over 15 years have passed since Mary's near death (Annals of Internal Medicine. 1993;118:146-148). Disappointment in the care by fellow academic physicians persists; however, a reanalysis of her case through the lens of complex systems design and performance yields a more accurate and actionable perspective. Mary's suffering was not due to human failure alone. Human failure was provoked and exacerbated by broken processes including ambiguous assignments of responsibility; inadequate transfers of information and authority; unreliable or unavailable protocols for providing safe, effective treatment; and a failure to integrate the deep but narrow perspectives of individual specialists into a complete picture of Mary's condition. Her case exemplifies, in personal terms, many of the system challenges academic medical centers face: Faculty have other missions that can conflict with patient care; disease complexity is high, requiring input from multiple subspecialists; clinical departments serve as roadblocks to communication; and novice physicians, requiring close supervision, have primary responsibility for the day-to-day care of acutely ill patients. The academic physicians who first cared for Mary unwittingly accepted flawed systems, and they failed to work around them. At great monetary and emotional expense, last-minute heroics saved Mary. In a dysfunctional system, even the most conscientious physician may be viewed as uncaring. As Mary's case so clearly illustrates, patients and their families see the system and the physician as one. Only by working to improve the systems of delivery will academic physicians again be consistently viewed as caring.

  14. The occurrence of oil and the distribution of Hexagenia (Ephemeroptera: Ephemeridae) nymphs in the St. Marys River, Michigan and Ontario

    USGS Publications Warehouse

    Hiltunen, Jarl K.; Schloesser, Donald W.

    1983-01-01

    We sampled benthos from the St. Marys River in May 1974 and May 1975 to determine visibly the occurrence of sorpted oil and the distribution of nymphs of the burrowing mayfly Hexagenia in the bottom of the Lake George and Lake Nicolet channels. Results of our survey showed that, between 1967 and 1974-75, the occurrence of oil in the substrate of the Lake George Channel had advanced from 16 km to 30 km downstream from the point where oil is discharged at Sault Ste. Marie, Ontario. Absence or low densities of nymphs coincided with the presence of oil in the sediments. In the Lake Nicolet Channel, evidence of oil pollution was meager and the density of Hexagenia nymphs was generally high.

  15. A Qualitative Biological Survey of Aquatic Macrophytes and Larval, Juvenile and Adult Fish of the Upper St. Marys River

    DTIC Science & Technology

    1983-01-01

    rapids, the river falls about two feet before flowing into Lake Huron . The flow of the St. Marys River during the 74-year period between 1900-1973...meanders southward from its headwaters of Whitefish Bay to Lake Huron , it constricts and expands to augment diversity of the bottom substrate and aquatic...GREAT LAKES CONNECTING CHANNELS AND HARBOR STUDY RICHARD GREENWOOD JANUARY 1983 Prepared for U.S. Army Corps ot Engineers Detroit District DTIC By E E

  16. Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.

    PubMed

    Kabzinska, D; Drac, H; Sherman, D L; Kostera-Pruszczyk, A; Brophy, P J; Kochanski, A; Hausmanowa-Petrusewicz, I

    2006-03-14

    Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.

  17. A Silent Witness for Peace: The Case of Schoolteacher Mary Stone McDowell and America at War

    ERIC Educational Resources Information Center

    Howlett, Patricia; Howlett, Charles F.

    2008-01-01

    A 1964 television series, "Profiles in Courage," based on the late President John F. Kennedy's Pulitzer prize-winning book, featured the life of Mary Stone McDowell, a quiet, yet strong, teacher. Within peace circles, McDowell was a well-known figure. Yet what captured the interest of the show's producers was the stand she took during World War I.…

  18. Comparison of geology of Jurassic Norphlet Mary Ann field, Mobile Bay, Alabama, to onshore regional Norphlet trends

    SciTech Connect

    Marzono, M.; Pense, G.; Andronaco, P.

    1988-09-01

    The geology of the Mary Ann field is better understood in light of regional studies, which help to establish a depositional model in terms of both facies and thickness variations. These studies also illustrate major differences between onshore and offshore Norphlet deposits concerning topics such as diagenesis, hydrocarbon trapping, and migration. The Jurassic Norphlet sandstone was deposited in an arid basin extending from east Texas to Florida by a fluvial-eolian depositional system, prior to the transgression of the Smackover Formation. Until discovery of the Mary Ann field in 1979, Norphlet production was restricted to onshore areas, mostly along the Pickens-Pollard fault system in Mississippi, Alabama, and Florida. The Mary Ann field is a Norphlet dry-gas accumulation, and was the first offshore field in the Gulf of Mexico to establish economic reserves in the Jurassic. The field is located in Mobile Bay, approximately 25 mi (40 km) south of Mobile, Alabama. Formed by a deep-seated (more than 20,000 ft or 6096 m) faulted salt pillow, Mary Ann field produces from a series of stacked eolian dune sands situated near the Norphlet paleocoastline. Five lithofacies have been recognized in cores from the Mobil 76 No. 2 well. Each lithofacies has a distinct reservoir quality. Optimum reservoir faces are the dune and sheet sands. Nonreservoir facies are interdune (wet and dry), marine reworked, and evaporitic sands. Following deposition, these sediments have undergone varying amounts of diagenesis. Early cementation of well-sorted sands supported the pore system during compaction. However, late cementation by chlorite, silica, and alteration of liquid hydrocarbons to an asphaltic residue have completely occluded the pore system in parts of the reservoir.

  19. Hybrid Hard and Soft Decision Decoding of Reed-Solomon Codes for M-ary Frequency-Shift Keying

    DTIC Science & Technology

    2010-06-01

    efficient modulation schemes such as M-ary phase-shift keying. Since JTIDS /Link-16 uses quasi-orthogonal, cyclic code-shift keying (CCSK), in this...keying. Since JTIDS /Link-16 uses quasi-orthogonal, cyclic code-shift keying (CCSK), in this thesis, soft decision decoding of RS encoded symbols is...87 VII. APPLICATION OF HYBRID HD SD RS DECODING IN ALE AND JTIDS /LINK-16

  20. Understanding Employment Discrimination Law: Clarifying Disparate Treatment Analysis after St. Mary’s Honor Center V. Hicks

    DTIC Science & Technology

    1994-04-01

    Genesis Of Disparate Treatment Analysis .............. ................ 8 B . Furnco And Sweeney: The Genesis Of Confusion In Disparate Treatment Analysis...24 V. St. Mary’s Honor Center v. Hicks ..... ............ .. 27 A. Prelude to Hicks: The Split in the Circuits. ... 27 B . Hicks Before the...Employer’s Burden of Production ........ .. 56 3. The Plaintiff’s Burden of Proving Pretext . . . 57 B . Federal Rule of Evidence 301: An Anchor for Disparate

  1. Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A.

    PubMed

    de Carvalho Alcântara, Mônica; Nogueira-Barbosa, Marcello H; Fernandes, Regina Maria França; da Silva, Geruza Alves; Lourenço, Charles Marques; Sander, Heide H; Marques Junior, Wilson

    2015-05-01

    We aimed to investigate the relationship between neurological compromise, respiratory parameters in wakefulness and in sleep, physiology, and morphology of phrenic nerves in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). Sixteen patients with CMT1A were evaluated by spirometry, maximal expiratory and maximal inspiratory pressures (MEP, MIP), polysomnography, phrenic nerve compound muscle action potential (CMAP), and ultrasonography (roots C3,C4,C5 and phrenic nerves). Clinical disability was measured with Charcot-Marie-Tooth neuropathy score (CMT-NS; range 0-36). Two control groups, comprising 30 individuals matched for age, sex, and body mass index, were used for comparison. Ten patients were female (62%), mean age was 37.88 years (range 24-76); and CMT-NS range was 7-34. MIP was reduced in five (31%) and MEP in 12 patients (75%), although only one had restrictive respiratory dysfunction in spirometry. Apnoea-hypopnea index (AHI) was significantly higher in patients (12.01 ± 11.57/h × 5.89 ± 8.36/h; p value = 0.05) and increased in REM sleep compared with NREM (9.94 ± 10.96/h × 19.13 ± 19.93/h; p value = 0.01). There were significant correlations between CMT-NS and AHI (Pearson = 0.69; p value = 0.03); CMT-NS and MIP (Pearson = -0.691, p value = 0.003); and CMT-NS and MEP (Pearson = -0.603, p value = 0.013). Also, AHI showed negative correlation with MIP (Pearson = -0.52, p value = 0.036) and MEP (Pearson = -0.55, p value = 0.026). Phrenic nerves were enlarged in ultrasonography in all patients and presented significant correlations with CMAPs (right: Pearson = -0.554, p value = 0.026; left: Pearson = -0.558, p value = 0.025). We suggest that axonal degeneration of nerves directed to muscles of respiration might explain the high prevalence of respiratory weakness in patients with CMT1A. Clinical manifestations are frequent during sleep, where the diaphragm alone can only partially surpass the overload in breathing apparatus.

  2. Marie Byrd Land Mylonites Record Onset of Continental Extension in West Antarctica

    NASA Astrophysics Data System (ADS)

    Baldwin, S.; Siddoway, C.; Fitzgerald, P. G.; Fanning, C. M.; Luyendyk, B. P.

    2001-12-01

    The timing of extension between East and West Antarctica is fundamental to understanding the tectonic evolution of Antarctica. Mylonitic gneisses dredged from offshore western Marie Byrd Land (MBL) in West Antarctica provide evidence for regional scale extensional shear zones active during continental rifting to form the West Antarctica rift system. Based on U-Pb ages, petrology, and proximity to similar onshore exposures, the protolith for the mylonitic gneisses is most likely the mid-Cretaceous Byrd Coast Granite, an A-type granite derived from crustal melting of calc-alkaline plutonic rocks. In situ SHRIMP analyses of zircons in thin sections of the mylonitic gneisses gave a mean 206Pb/238U age of 102.9 +/- 0.7 Ma interpreted to date the timing of crystallization of the mylonite protolith. A younger grouping of zircon analyses records a mean 206Pb/238U age of 97 +/- 2 Ma and may reflect a secondary radiogenic Pb loss event. 40Ar/39Ar biotite spectra are complex with oldest apparent ages ranging from 98-95 Ma which we interpret to record the timing of mylonitization. Two K-feldspars gave 40Ar/39Ar apparent ages concordant with the 40Ar/39Ar biotite apparent ages. However one K-feldspar gave 40Ar/39Ar apparent ages ranging in general from 95-102.7 Ma. Apatite fission track (AFT) ages are 71 +/- 5 and 86 +/- 4 Ma with confined track length distributions indicative of rapid cooling. The U-Pb SHRIMP geochronology, 40Ar/39Ar and AFT thermochronometry records crystallization of the mylonite protolith followed by rapid cooling due to rapid exhumation marking the onset of continental extension within western Marie Byrd Land and the West Antarctic rift system. Movement on mid-Cretaceous extensional shear zones resulted in rapid exhumation. The mylonitic gneisses are overprinted by brittle fabrics and are similar to microstructures found in calc-silicate basement rocks cored at DSDP site 270 in the central Ross Sea. The AFT data for mylonitic gneisses are similar to AFT

  3. Comparison of the compatible solute pool of two slightly halophilic planctomycetes species, Gimesia maris and Rubinisphaera brasiliensis.

    PubMed

    Ferreira, Catarina; Soares, Ana R; Lamosa, Pedro; Santos, Manuel A; da Costa, Milton S

    2016-11-01

    Gimesia maris and Rubinisphaera brasiliensis are slightly halophilic representatives of the deep-branching phylum Planctomycetes. For osmoadaptation both species accumulated α-glutamate, sucrose, ectoine and hydroxyectoine. A major role was found for ectoine, hydroxyectoine as well as sucrose under hyper-osmotic shock conditions. Nevertheless, the levels of sucrose were up-regulated by the increased salinity levels and also by low nitrogen availability. Additionally, G. maris accumulated glucosylglycerate (GG) as major solute specifically under low nitrogen levels, which prompted us to analyse the transcript abundance of two homologues genes known for the biosynthesis of GG, namely glucosyl-3-phosphoglycerate synthase (GpgS) and glucosyl-3-phosphoglycerate phosphatase (GpgP). By qPCR using a suitable reference gene selected in this study, the transcript abundance of the biosynthetic genes was quantified in G. maris cells under hyper-osmotic shock or under low nitrogen conditions. The gpgS gene was induced under nitrogen-limiting conditions suggesting that GG synthesis is regulated primarily at the transcription level. Moreover, the expression of a gene coding for a putative sucrose-phosphorylase (Spase) located upstream the gpgS and gpgP genes was up-regulated, predicting a metabolic role of Spase probably related to GG synthesis.

  4. [A study of development of medicine and science in the nineteenth century science fiction: biomedical experiments in Mary Shelley's Frankenstein].

    PubMed

    Choo, Jae-Uk

    2014-12-01

    As the sciences advanced rapidly in the modern European world, outstanding achievements have been made in medicine, chemistry, biology, physiology, physics and others, which have been co-influencing each of the scientific disciplines. Accordingly, such medical and scientific phenomena began to be reflected in novels. In particular, Mary Shelley's Frankenstein includes the diverse aspects of the change and development in the medicine and science. Associated with medical and scientific information reflected in Frankenstein and Frankenstein's experiments in the text, accordingly, this research will investigate the aspects of medical and scientific development taking place in the nineteenth century in three ways. First, the medical and scientific development of the nineteenth century has been reviewed by summerizing both the information of alchemy in which Frankenstein shows his interest and the new science in general that M. Waldman introduces in the text. Second, the actual features of medical and scientific development have been examined through some examples of the experimental methods that M. Waldman implicitly uttered to Frankenstein. Third, it has been checked how the medical and scientific development is related to the main issues of mechanism and vitalism which can be explained as principles of life. Even though this research deals with the developmental process of medicine & science and origin & principles of life implied in Mary Shelley's Frankenstein, its significance is that it is the interdisciplinary research focussing on how deeply medical and scientific discourse of Mary Shelley's period has been imbedded in the nineteenth century novel.

  5. Modeling of Microwave Emissions from the Marie-Byrd Antarctic Region: A Stable Calibration Target in the L-band

    NASA Astrophysics Data System (ADS)

    Misra, S.; Brown, S.

    2010-12-01

    With the recent launch of SMOS (Soil Moisture Ocean Salinity) and upcoming missions Aquarius and SMAP (Soil Moisture Active Passive), calibration in L-band has become an important issue. The Aquarius mission, due to be launched in April 2011, is responsible for globally mapping sea-surface salinity. Due to the high sensitivity of brightness temperature to salinity and high precision of the Aquarius radiometers, it is necessary to have temporally stable calibration sources. Previously, Dome-C in the east Antarctic region was suggested as a promising area to monitor radiometer calibrations in the L-band toward the hot end of the brightness temperature spectrum (Macelloni et al., 2006; Macelloni et al., 2007). We present the Marie-Byrd region in west Antarctica as an excellent calibration reference, due to both its temporal stability over years as well as spatial vastness. In order to identify stable calibration regions for L-band we used 6-37GHz AMSR-E data. The spatial and temporal variability of AMSR-E brightness temperatures over the Antarctic region was analyzed, and only regions that were stable in both domains (like Marie-Byrd) were identified as radiometrically stable. Using data obtained from Automatic Weather Stations (AWS) near Marie-Byrd, the correlation between surface temperature and deep-ice temperature, as measured by microwaves was calculated. Results indicate that as the microwave frequency is lowered, the peak-to-peak annual variation of brightness temperature decreases. The bulk of emission for low frequencies occurs deep in the ice which is very stable over time and decorrelated with short term surface temperature fluctuations. As a result, at L-band the ice-regions like Marie-Byrd in Antarctica serve as an excellent source of calibration. A coupled ice heat-transport and radiative-transfer model was developed to predict brightness temperatures observed at low microwave frequencies. The ice model takes into account the surface fluctuations of

  6. Sister Mary Joseph Nodule as a First Manifestation of a Metastatic Ovarian Cancer

    PubMed Central

    Ogino, Mai; Kinuta, Takatoshi; Hori, Masateru; Mori, Tatsuo

    2016-01-01

    A 76-year-old female presented to our hospital with a 2 cm firm, nontender, protuberant umbilical nodule. She received treatment with antibiotics for suspected granuloma, with no improvement after two months. High levels of CA125 as well as an ovarian cyst and intrathoracic and intra-abdominal lesions on imaging studies made us suspect an ovarian cancer with a Sister Mary Joseph nodule (SMJN) and other metastases. A bilateral salpingo-oophorectomy and umbilical and omentum tumor resections were performed and a metastatic ovarian serous adenocarcinoma was diagnosed by histopathology. After surgery, the patient received chemotherapy with paclitaxel, carboplatin, and bevacizumab; however paclitaxel allergy was observed. As a result, chemotherapy continued with carboplatin and bevacizumab every three weeks for a total of 6 courses. Currently, she is still undergoing treatment with bevacizumab and CA125 levels have been progressively decreasing. SMJN is a rare umbilical metastasis which needs to be considered as a differential diagnosis in the presence of an umbilical tumor for prompt treatment initiation. PMID:27635270

  7. Quality of life in patients with Charcot-Marie-Tooth disease type 1A.

    PubMed

    Taniguchi, Juliana B; Elui, Valéria M C; Osório, Flávia L; Hallak, Jaime E C; Crippa, José A S; Machado-de-Sousa, João P; Kebbe, Leonardo M; Lourenço, Charles M; Scarel-Caminaga, Raquel M; Marques, Wilson

    2013-06-01

    We assessed the functional impairment in Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication (CMT1A) patients using the Short-Form Health Survey (SF-36), which is a quality of life questionnaire. Twenty-five patients of both genders aged ≥10 years with a positive molecular diagnosis of CMT1A were selected. Age- and gender-matched Control Group (without family history of neuropathy), and the sociodemographic and professional conditions similar to the patients' group were selected to compare the SF-36 results between them. The results showed that the majority quality of life impairments in CMT1A patients occurred in the social and emotional domains. Functional capacity also tended to be significantly affected; other indicators of physical impairment were preserved. In conclusion, social and emotional aspects are mostly neglected in the assistance provided to CMT1A Brazilian patients, and they should be better understood in order to offer global health assistance with adequate quality of life as a result.

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

    PubMed Central

    Liu, Harry; Wu, Chengbiao

    2017-01-01

    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. PMID:28165391

  9. Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.

    PubMed

    Piscosquito, Giuseppe; Salsano, Ettore; Ciano, Claudia; Palamara, Luisa; Morbin, Michela; Pareyson, Davide

    2013-06-01

    At age 35, a man with a genetic diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) but no family history of neuropathy and no clinical symptoms developed rapidly progressive loss of balance, distal limb numbness, loss of manual dexterity, and hand tremor. Five years later, he walked with support and had mild pes cavus, marked sensory ataxia, severe leg and hand weakness, absent deep tendon reflexes (DTRs), severe sensory loss, and hand tremor. He had dramatically reduced motor nerve conduction velocity (MNCV), strikingly prolonged motor distal latencies, absent sensory action potentials and lower limb compound muscle action potentials. CMT1A duplication was reconfirmed but the dramatic change in his clinical course suggested a superimposed acquired neuropathy. An IgM-kappa monoclonal gammopathy of uncertain significance (MGUS) with high titer anti-myelin associated glycoprotein (anti-MAG) activity was found. Nerve biopsy showed severe loss of myelinated fibers with onion bulbs, no evidence of uncompacted myelin, and few IgM deposits. Rituximab was given and he improved. It is very likely that this is a chance association of two rare and slowly progressive neuropathies; rapidly worsening course may have been due to a "double hit". Interestingly, there are reports of possible superimposition of dysimmune neuropathies on hereditary ones, and the influence of the immune system on inherited neuropathies is matter for debate.

  10. Creating the 'ethics industry': Mary Warnock, in vitro fertilization and the history of bioethics in Britain.

    PubMed

    Wilson, Duncan

    2011-06-01

    Recent decades have seen a shift in the management and discussion of biomedicine. Issues once considered by doctors and scientists are now handled by a diverse array of participants, including philosophers, lawyers, theologians and lay representatives. This new approach, known as 'bioethics', has become the norm in regulatory committees and public debate. In this article, I argue that bioethics emerged as a valued enterprise in Britain during the 1980s because it fulfilled, and linked, the concerns of several groups. My analysis centres on the moral philosopher Mary Warnock, who chaired a government inquiry into human fertilization and embryology between 1982 and 1984, and became a strong advocate of bioethics. I detail how Warnock's promotion of bioethics tallied with the Conservative government's desire for increased surveillance of hitherto autonomous professions - while fulfilling her own belief that philosophers should engage in public affairs. And I also show that Warnock simultaneously promoted bioethics to doctors and scientists as an essential safeguard against declining political and public trust. This stance, I argue, framed bioethics as a vital intermediary between politics, the public, and biomedicine, and explains the growth and endurance of what the Guardian identified as an ethics industry.

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

    PubMed Central

    Rezende, Rejane L. S.; Bonjardim, Leonardo R.; Neves, Eduardo L. A.; Santos, Lidiane C. L.; Nunes, Paula S.; Garcez, Catarina A.; Souza, Cynthia C.; Araújo, Adriano A. S.

    2013-01-01

    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. PMID:24391462

  12. An encounter between psychology and religion: humanistic psychology and the Immaculate Heart of Mary nuns.

    PubMed

    Kugelmann, Robert

    2005-01-01

    In the 1960s, humanistic psychology changed the relationship between psychology and religion by actively asserting the value of individual experience and self-expression. This was particularly evident in the encounter group movement. Beginning in 1967, Carl Rogers conducted a series of encounter groups, in order to promote "self-directed change in an educational system," for the Sisters of the Immaculate Heart of Mary, a religious order in California running an educational system. William Coulson, one of Rogers's associates in the project, later charged that the encounter groups undermined the religious order and played a major contributing part in the breakup of the order in 1970. The article examines these charges, situating the incident within the context of the changes occurring in religious life and in psychology in the 1960s. The article concludes that an already existing conflict the nuns had with the conservative Cardinal McIntyre of Los Angeles led to the departure of some 300 nuns from the order, who began the Immaculate Heart Community, an organization existing today. Nevertheless, encounter groups proved to be a psychological technology that helped to infuse a modern psychological--specifically, a humanistic psychological--perspective into contemporary religious life.

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

    PubMed

    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. Linkage localization of X-linked Charcot-Marie-Tooth disease

    SciTech Connect

    Bergoffen, J. Univ. of Pennsylvania, Philadelphia ); Trofatter, J.; Haines, J.L. ); Pericak-Vance, M.A. ); Chance, P.F. ); Fischbeck, K.H. )

    1993-02-01

    Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers - AR, PGKP1, DXS453, and DXYS1X - in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 ([theta] = 0). 32 refs., 3 figs., 2 tabs.

  15. Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX)

    SciTech Connect

    Cherryson, A.K.; Yeung, L.; Kennerson, M.L.; Nicholson, G.A.

    1994-09-01

    Charcot-Marie-Tooth disease, also known as hereditary motor and sensory neuropathy (HMSN), is a heterogeneous group of slowly progressive disorders of the peripheral nerve. X-linked CMT (CMTX) is characterized by slow motor nerve conduction velocities in affected males and the presence of mildly affected or normal carrier females with intermediate or normal nerve conduction velocities. CMTX, which has an incidence of 3.1 per 100,000 and accounts for approximately 10% of CMT cases, has been mapped to Xq13. One of the genes lying in this region, connexin 32, has been found to contain alterations in individuals affected with X-linked CMT. We have identified our X-linked families from dominant type 1 CMT families using the clinical criteria given above. These families were screened for point mutations in connexin 32. We have identified three missense mutations, a G{r_arrow}A transition at amino acid 35 (valine to methionine), a C{r_arrow}G transition at amino acid 158 (proline to alanine) and a T{r_arrow}A transition at amino acid 182 (serine to threonine). Another family showed a 18 bp deletion, which removed the amino acid 111 to 116 inclusive (histidine, glycine, aspartic acid, proline, leucine, histidine).

  16. Heavy ion observations by MARIE in cruise phase and Mars orbit

    NASA Technical Reports Server (NTRS)

    Lee, K. T.; Cleghorn, T.; Cucinotta, F.; Pinsky, L.; Zeitlin, C.

    2004-01-01

    The charged particle spectrum for nuclei from protons to neon, (charge Z=10) was observed during the cruise phase and orbit around Mars by the MARIE charged particle spectrometer on the Odyssey spacecraft. The cruise data were taken between April 23, 2001 and mid-August 2001. The Mars orbit data were taken March 5, 2002 through May 2002 and are scheduled to continue until August 2004. Charge peaks are clearly separated for charges up to Z=10. Especially prominent are the carbon and oxygen peaks, with boron and nitrogen also clearly visible. Although heavy ions are much less abundant than protons in the cosmic ray environment, it is important to determine their abundances because their ionization energy losses (proportional to Z2) are far more dangerous to humans and to instruments. Thus the higher charged nuclei make a significant contribution to dose and dose equivalent received in space. Results of the charged particle spectrum measurements will be reported. c2003 COSPAR. Published by Elsevier Ltd. All rights reserved.

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

    PubMed

    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.

  18. Developing translational medicine professionals: the Marie Skłodowska-Curie action model.

    PubMed

    Petrelli, Alessandra; Prakken, Berent J; Rosenblum, Norman D

    2016-11-29

    End goal of translational medicine is to combine disciplines and expertise to eventually promote improvement of the global healthcare system by delivering effective therapies to individuals and society. Well-trained experts of the translational medicine process endowed with profound knowledge of biomedical technology, ethical and clinical issues, as well as leadership and teamwork abilities are essential for the effective development of tangible therapeutic products for patients. In this article we focus on education and, in particular, we discuss how programs providing training on the broad spectrum of the translational medicine continuum have still a limited degree of diffusion and do not provide professional support and mentorship in the long-term, resulting in the lack of well established professionals of translational medicine (TMPs) in the scientific community. Here, we describe the Marie Skłodowska-Curie Actions program ITN-EUtrain (EUropean Translational tRaining for Autoimmunity & Immune manipulation Network) where training on the Translational Medicine machinery was integrated with education on professional and personal skills, mentoring, and a long-lasting network of TMPs.

  19. Investigation of a Medieval Pilgrim Burial Excavated from the Leprosarium of St Mary Magdalen Winchester, UK

    PubMed Central

    Tucker, Katie; Filipek-Ogden, Kori; Montgomery, Janet; Cameron, Jamie; O’Connell, Tamsin; Evans, Jane; Marter, Phil; Taylor, G. Michael

    2017-01-01

    We have examined the remains of a Pilgrim burial from St Mary Magdalen, Winchester. The individual was a young adult male, aged around 18–25 years at the time of death. Radiocarbon dating showed the remains dated to the late 11th–early 12th centuries, a time when pilgrimages were at their height in Europe. Several lines of evidence in connection with the burial suggested this was an individual of some means and prestige. Although buried within the leprosarium cemetery, the skeleton showed only minimal skeletal evidence for leprosy, which was confined to the bones of the feet and legs. Nonetheless, molecular testing of several skeletal elements, including uninvolved bones all showed robust evidence of DNA from Mycobacterium leprae, consistent with the lepromatous or multibacillary form of the disease. We infer that in life, this individual almost certainly suffered with multiple soft tissue lesions. Genotyping of the M.leprae strain showed this belonged to the 2F lineage, today associated with cases from South-Central and Western Asia. During osteological examination it was noted that the cranium and facial features displayed atypical morphology for northern European populations. Subsequently, geochemical isotopic analyses carried out on tooth enamel indicated that this individual was indeed not local to the Winchester region, although it was not possible to be more specific about their geographic origin. PMID:28125649

  20. Charcot-Marie-Tooth type 1A disease from patient to laboratory.

    PubMed

    Perveen, Shazia; Mannan, Shazia; Hussain, Abrar; Kanwal, Sumaira

    2015-02-01

    Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The disease was discovered by three scientists several years ago. Several genes are involved as the causative agents for the disease. Hundreds of causative mutations have been found and research work for the identification of a novel locus and for the treatment of CMT1A is going on. This review article was planned to gather information on CMT disease and updates on its treatment.National Center for Biotechnology Information (NCBI) and PubMed were searched for data retrieval. Molgen database, which is the exclusive site for CMT mutation, was the other source of articles. Different aspects of the CMT disease were compared.Advancements in the finding of the causative gene, discovery of the novel Loci are the current issues in this regard.CMT disease is incurable, but researchers are trying to get some benefits from different natural compounds and several therapeutic agents.Various groups are working on the treatment projects of CMT1A. Major step forward in CMT research was taken in 2004 when ascorbic acid was used for transgenic mice treatment. Gene therapy for constant neurotrophin-3 (NT- 3) delivery by secretion by muscle cells for the CMT1A is also one of the possible treatments under trial.

  1. Seismic detection of an active subglacial magmatic complex in Marie Byrd Land, Antarctica

    NASA Astrophysics Data System (ADS)

    Lough, Amanda C.; Wiens, Douglas A.; Grace Barcheck, C.; Anandakrishnan, Sridhar; Aster, Richard C.; Blankenship, Donald D.; Huerta, Audrey D.; Nyblade, Andrew; Young, Duncan A.; Wilson, Terry J.

    2013-12-01

    Numerous volcanoes exist in Marie Byrd Land, a highland region of West Antarctica. High heat flow through the crust in this region may influence the stability of the West Antarctic Ice Sheet. Volcanic activity progressed from north to south in the Executive Committee mountain range between the Miocene and Holocene epochs, but there has been no evidence for recent magmatic activity. Here we use a recently deployed seismic network to show that in 2010 and 2011, two swarms of seismic activity occurred at 25-40km depth beneath subglacial topographic and magnetic highs, located 55km south of the youngest subaerial volcano in the Executive Committee Range. We interpret the swarm events as deep long-period earthquakes based on their unusual frequency content. Such earthquakes occur beneath active volcanoes, are caused by deep magmatic activity and, in some cases, precede eruptions. We also use radar profiles to identify a prominent ash layer in the ice overlying the seismic swarm. Located at 1,400m depth, the ash layer is about 8,000years old and was probably sourced from the nearby Mount Waesche volcano. Together, these observations provide strong evidence for ongoing magmatic activity and demonstrate that volcanism continues to migrate southwards along the Executive Committee Range. Eruptions at this site are unlikely to penetrate the 1.2 to 2-km-thick overlying ice, but would generate large volumes of melt water that could significantly affect ice stream flow.

  2. Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.

    PubMed

    Villalón, Eric; Dale, Jeffrey M; Jones, Maria; Shen, Hailian; Garcia, Michael L

    2015-11-19

    Charcot-Marie-Tooth disease (CMT) is the most commonly inherited peripheral neuropathy. CMT disease signs include distal limb neuropathy, abnormal gait, sensory defects, and deafness. We generated a novel line of CMT2E mice expressing hNF-L(E397K), which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons, and decreased nerve conduction velocity. In this study, we challenged wild type, hNF-L and hNF-L(E397K) mice with crush injury to the sciatic nerve. We analyzed functional recovery by measuring toe spread and analyzed gait using the Catwalk system. hNF-L(E397K) mice demonstrated reduced recovery from nerve injury consistent with increased susceptibility to neuropathy observed in CMT patients. In addition, hNF-L(E397K) developed a permanent reduction in their ability to weight bear, increased mechanical allodynia, and premature gait shift in the injured limb, which led to increasingly disrupted interlimb coordination in hNF-L(E397K). Exacerbation of neuropathy after injury and identification of gait alterations in combination with previously described pathology suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2. Therefore, hNF-L(E397K) mice provide a model for determining the efficacy of novel therapies.

  3. Conservation Action Planning: Lessons learned from the St. Marys River watershed biodiversity conservation planning process

    USGS Publications Warehouse

    Patterson, Tamatha A.; Grundel, Ralph

    2014-01-01

    Conservation Action Planning (CAP) is an adaptive management planning process refined by The Nature Conservancy (TNC) and embraced worldwide as the Open Standards for the Practice of Conservation. The CAP process facilitates open, multi-institutional collaboration on a common conservation agenda through organized actions and quantified results. While specifically designed for conservation efforts, the framework is adaptable and flexible to multiple scales and can be used for any collaborative planning effort. The CAP framework addresses inception; design and development of goals, measures, and strategies; and plan implementation and evaluation. The specific components of the CAP include defining the project scope and conservation targets; assessing the ecological viability; ascertaining threats and surrounding situation; identifying opportunities and designing strategies for action; and implementing actions and monitoring results. In 2007, TNC and a multidisciplinary graduate student team from the University of Michigan's School of Natural Resources and Environment initiated a CAP for the St. Marys River, the connecting channel between Lake Superior and Lake Huron, and its local watershed. The students not only gained experience in conservation planning, but also learned lessons that notably benefited the CAP process and were valuable for any successful collaborative effort—a dedicated core team improved product quality, accelerated the timeline, and provided necessary support for ongoing efforts; an academic approach in preparation for engagement in the planning process brought applicable scientific research to the forefront, enhanced workshop facilitation, and improved stakeholder participation; and early and continuous interactions with regional stakeholders improved cooperation and built a supportive network for collaboration.

  4. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

    PubMed

    Choi, Byung-Ok; Koo, Soo Kyung; Park, Mi-Hyun; Rhee, Hwanseok; Yang, Song-Ju; Choi, Kyoung-Gyu; Jung, Sung-Chul; Kim, Han Su; Hyun, Young Se; Nakhro, Khriezhanuo; Lee, Hye Jin; Woo, Hae-Mi; Chung, Ki Wha

    2012-11-01

    Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. As several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes, exact genetic diagnostics have become very important for executing personalized therapy. Whole-exome sequencing has recently been introduced as an available method to identify rare or novel genetic defects from genetic disorders. Particularly, CMT is a model disease to apply exome sequencing because more than 50 genes (loci) are involved in its development with weak genotype-phenotype correlation. This study performed the exome sequencing in 25 unrelated CMT patients who revealed neither 17p12 duplication/deletion nor several major CMT genes. This study identified eight causative heterozygous mutations (32%). This detection rate seems rather high because each sample was tested before the study for major genetic causes. Therefore, this study suggests that the exome sequencing can be a highly exact, rapid, and economical molecular diagnostic tool for CMT patients who are tested for major genetic causes.

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

    PubMed Central

    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

  6. Preliminary geological investigation of AIS data at Mary Kathleen, Queensland, Australia

    NASA Technical Reports Server (NTRS)

    Huntington, J. F.; Green, A. A.; Craig, M. D.; Cocks, T. D.

    1986-01-01

    The Airborne Imaging Spectrometer (AIS) was flown over granitic, volcanic, and calc-silicate terrain around the Mary Kathleen Uranium Mine in Queensland, in a test of its mineralocial mapping capabilities. An analysis strategy and restoration and enhancement techniques were developed to process the 128 band AIS data. A preliminary analysis of one of three AIS flight lines shows that the data contains considerable spectral variation but that it is also contaminated by second-order leakage of radiation from the near-infrared region. This makes the recognition of expected spectral absorption shapes very difficult. The effect appears worst in terrains containing considerable vegetation. Techniques that try to predict this supplementary radiation coupled with the log residual analytical technique show that expected mineral absorption spectra can be derived. The techniques suggest that with additional refinement correction procedures, the Australian AIS data may be revised. Application of the log residual analysis method has proved very successful on the cuprite, Nevada data set, and for highlighting the alunite, linite, and SiOH mineralogy.

  7. Health-hazard evaluation report HETA 84-033-1576, Airco Carbon, St. Marys, Pennsylvania

    SciTech Connect

    Hartle, R.W.; Morawetz, J.S.

    1985-09-01

    Environmental and breathing-zone samples were analyzed for polynuclear aromatic hydrocarbons (PAH), total particulates, and respirable free silica at the Airco Company (SIC-3624), Saint Marys, Pennsylvania in January, 1984. The evaluation was requested confidentially because of concern over exposures to soot, coal tar pitch volatiles, and sand in the car bottom and sagger bake operations. Forty-three employees were interviewed. Two of 19 total particulate samples exceeded the OSHA standard of 15 milligrams per cubic meter (mg/m3), 17.3 and 32.7 mg/m3. Benzene soluble fractions ranged from 0.5 to 5.0 mg/m3. The OSHA standard for benzene soluble fractions is 0.2 mg/m3. Two of seven samples of silica were above the limit of detection, 0.09 and 0.06 mg/m3. In bulk samples, the benzene soluble fractions ranged from 0.44 to 860 mg/gram and the PAH content from 0 to 26,124 micrograms per gram. Employees working in the bake areas reported a significant excess incidence of symptoms such as skin, nose and eye irritation, cough, sore or dry throat, chest tightness, and breathing difficulty. The authors conclude that a health hazard exists at the facility. Recommendations include enclosing vehicles used in moving electrodes, cleaning up spilled dust, and controlling fumes emitted from the sagger kilns.

  8. Developing spiritual and religious care competencies in practice: pilot of a Marie Curie blended learning event.

    PubMed

    Smith, Tracy; Gordon, Tom

    2009-02-01

    The Marie Curie Cancer Care (2003) Spiritual and Religious Care Competencies for Specialist Palliative Care provide a common language for healthcare practitioners in the nebulous area of spiritual care. The development of a pilot blended learning event, as described in this paper, sought to integrate the competencies into practice by providing opportunities both online and in the classroom to explore this aspect of holistic care in depth. In the planning stages, multiprofessional focus groups determined the level of delivery, and emerging themes shaped the content. Self-awareness and reflection were key features and part of the overall process to improve competency. The features of the virtual learning environment (VLE) used were video, facilitated asynchronous discussion and direct links to key articles and documents, while interactive classroom activities built on prior learning. Evaluation covered all aspects of the course design from participant and facilitator perspectives. Participant comments were overwhelmingly positive in relation to the content and chosen delivery methods with concerns about online learning proving unfounded.

  9. Designing long-term fish community assessments in connecting channels: Lessons from the Saint Marys River

    USGS Publications Warehouse

    Schaeffer, Jeff; Rogers, Mark W.; Fielder, David G.; Godby, Neal; Bowen, Anjanette K.; O'Connor, Lisa; Parrish, Josh; Greenwood, Susan; Chong, Stephen; Wright, Greg

    2014-01-01

    Long-term surveys are useful in understanding trends in connecting channel fish communities; a gill net assessment in the Saint Marys River performed periodically since 1975 is the most comprehensive connecting channels sampling program within the Laurentian Great Lakes. We assessed efficiency of that survey, with intent to inform development of assessments at other connecting channels. We evaluated trends in community composition, effort versus estimates of species richness, ability to detect abundance changes for four species, and effects of subsampling yellow perch catches on size and age-structure metrics. Efficiency analysis revealed low power to detect changes in species abundance, whereas reduced effort could be considered to index species richness. Subsampling simulations indicated that subsampling would have allowed reliable estimates of yellow perch (Perca flavescens) population structure, while greatly reducing the number of fish that were assigned ages. Analyses of statistical power and efficiency of current sampling protocols are useful for managers collecting and using these types of data as well as for the development of new monitoring programs. Our approach provides insight into whether survey goals and objectives were being attained and can help evaluate ability of surveys to answer novel questions that arise as management strategies are refined.

  10. Analysis of the LSC microbunching instability in MaRIE linac reference design

    SciTech Connect

    Yampolsky, Nikolai

    2016-09-22

    In this report we estimate the effect of the microbunching instability in the MaRIE XFEL linac. The reference design for the linac is described in a separate report. The parameters of the L1, L2, and L3 linacs as well as BC1 and BC2 bunch compressors were the same as in the referenced report. The beam dynamics was assumed to be linear along the accelerator (which is a reasonable assumption for estimating the effect of the microbunching instability). The parameters of the bunch also match the parameters described in the referenced report. Additionally, it was assumed that the beam radius is equal to R = 100 m and does not change along linac. This assumption needs to be revisited at later studies. The beam dynamics during acceleration was accounted in the matrix formalism using a Matlab code. The input parameters for the linacs are: RF peak gradient, RF frequency, RF phase, linac length, and initial beam energy. The energy gain and the imposed chirp are calculated based on the RF parameters self-consistently. The bunch compressors are accounted in the matrix formalism as well. Each chicane is characterized by the beam energy and the R56 matrix element. It was confirmed that the linac and beam parameters described previously provide two-stage bunch compression with compression ratios of 10 and 20 resulting in the bunch of 3kA peak current.

  11. Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus

    PubMed Central

    Yu, Zhiliang; Wu, Xiaohua; Xie, Huijun; Han, Ying; Guan, Yangtai; Qin, Yong; Zheng, Huimin; Jiang, Jianming; Niu, Zhenmin

    2014-01-01

    Purpose: Charcot-Marie-Tooth disease (CMT) is the most common type of inherited peripheral neuropathy and has a high degree of genetic heterogeneity. CMT with concurrent diabetes mellitus (DM) is rare. The purpose of this study is to explore the genetic, clinical and pathological characteristics of the patients with CMT and concurrent DM. Methods: We investigated gene mutations (the peripheral myelin protein 22 gene, myelin protein zero gene, lipopolysaccharide-induced tumor necrosis factor-α factor gene, early growth response gene and the neurofilament light chain gene loci) of a relatively large and typical Chinese family with CMT1 and concurrent DM2. From the literature, we also retrieved all reported families and single cases with CMT and concurrent DM. We comprehensively analyzed the characteristics of total 33 patients with CMT and concurrent DM, and further compared these characteristics with those of patients of diabetic peripheral neuropathy (DPN). Results: Patients with CMT and concurrent DM had some relatively independent characteristics and pathogenic mechanisms. So we designated that kind of characteristic demyelinating CMT which accompanies DM as Yu-Xie syndrome (YXS), a new specific clinical subtype of CMT. Conclusion: CMT is an etiologic factor of DM, even though the intrinsic association between CMT and DM still remains further exploration. PMID:25120817

  12. Velocities of Thwaites Glacier and smaller glaciers along the Marie Byrd Land coast, West Antarctica

    USGS Publications Warehouse

    Rosanova, C.E.; Lucchitta, B.K.; Ferrigno, J.G.

    1998-01-01

    Average velocities for time intervals ranging from <1 to 15 years were measured by tracking ice-surface patterns on sequential Landsat and European Remote-sensing Satellite synthetic aperture radar images. Velocities of Thwaites Glacier range from 2.2 km a-1 above the grounding line to 3.4 km a-1 at the limit of measurements on Thwaites Glacier ice tongue. The glacier increases in velocity by about 1 km a-1 where it crosses the grounding line. Over the period 1984-93, Thwaites Glacier ice tongue accelerated by about 0.6 km a-1. Velocities of the floating part of several minor glaciers and some ice shelves are also determined: Land Glacier, 1.7-1.9 km a-1; DeVicq Glacier, 0.7-1.1 km a-1; Dotson Ice Shelf, 0.2-0.5 km a-1; Getz Ice Shelf, 0.2-0.8 km a-1; and Sulzberger Ice Shelf, 0.01-0.02 km a-1. The high velocities along the Marie Byrd Land coast are consistent with the high precipitation rates over West Antarctica and, for some of the glaciers, the lack of buttressing ice shelves.

  13. From secure dependency to attachment: Mary Ainsworth's integration of Blatz's security theory into Bowlby's attachment theory.

    PubMed

    van Rosmalen, Lenny; van der Horst, Frank C P; van der Veer, René

    2016-02-01

    John Bowlby is generally regarded as the founder of attachment theory, with the help of Mary Ainsworth. Through her Uganda and Baltimore studies Ainsworth provided empirical evidence for attachment theory, and she contributed the notion of the secure base and exploratory behavior, the Strange Situation Procedure and its classification system, and the notion of maternal sensitivity. On closer scrutiny, many of these contributions appear to be heavily influenced by William Blatz and his security theory. Even though Blatz's influence on Ainsworth has been generally acknowledged, this article, partly based on understudied correspondence from several personal archives, is the first to show which specific parts of attachment theory can be traced back directly to Blatz and his security theory. When Ainsworth started working with Bowlby in the 1950s, around the time he turned to evolutionary theory for an explanation of his findings, she integrated much of Blatzian security theory into Bowlby's theory in the making and used her theoretical and practical experience to enrich attachment theory. Even though Blatz is hardly mentioned nowadays, several of his ideas live on in attachment theory.

  14. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

    PubMed

    Tazir, Meriem; Bellatache, Mounia; Nouioua, Sonia; Vallat, Jean-Michel

    2013-06-01

    The prevalence of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) varies in different populations. While in some countries of Western Europe, the United States and Japan the dominant form of HMSN is the most frequent, in other countries such as those of the Mediterranean Basin, the autosomal recessive form (AR-CMT) is more common. Autosomal recessive CMT cases are generally characterized by earlier onset, usually before the age of 2 or 3 years, and rapid clinical progression that results in severe polyneuropathy and more marked distal limb deformities such as pes equino-varus, claw-like hands, and often major spinal deformities. Recent clinical, morphological and molecular investigations of CMT families with autosomal recessive inheritance allowed the identification of many genes such as GDAP1, MTMR2, SBF2, NDRG1, EGR2, SH3TC2, PRX, FGD4, and FIG4, implicated in demyelinating forms (ARCMT1 or CMT4), and LMNA, MED25, HINT1, GDAP1, LRSAM1, NEFL, HSPB1 and MFN2 in axonal forms (ARCMT2). However, many patients remain without genetic diagnosis to date, prompting investigations into ARCMT families in order to help discover new genes and common pathways. This review summarizes recent advances regarding the genotypes and corresponding phenotypes of AR-CMT.

  15. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

    PubMed Central

    Hyun, Young Se; Kwak, Geon; Choi, Yu-Ri; Yeo, Ha Kyung; Jwa, Dong Hwan; Kim, Eun Ja; Mo, Won Min; Nam, Soo Hyun; Kim, Sung Min; Yoo, Jeong Hyun; Koo, Heasoo; Park, Hwan Tae; Chung, Ki Wha; Choi, Byung-Ok

    2016-01-01

    Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in PMP2 from a family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical features. The age at onset was the first to second decades and muscle atrophy started in the distal portion of the leg. Predominant fatty replacement in the anterior and lateral compartment was similar to that in CMT1A caused by PMP22 duplication. Sural nerve biopsy showed onion bulbs and degenerating fibers with various myelin abnormalities. The relevance of PMP2 mutation as a genetic cause of dominant CMT1 was assessed using transgenic mouse models. Transgenic mice expressing wild type or mutant (p.I43N) PMP2 exhibited abnormal motor function. Electrophysiological data revealed that both mice had reduced motor nerve conduction velocities (MNCV). Electron microscopy revealed that demyelinating fibers and internodal lengths were shortened in both transgenic mice. These data imply that overexpression of wild type as well as mutant PMP2 also causes the CMT1 phenotype, which has been documented in the PMP22. This report might expand the genetic and clinical features of CMT and a further mechanism study will enhance our understanding of PMP2-associated peripheral neuropathy. PMID:26828946

  16. A brief review of recent Charcot-Marie-Tooth research and priorities

    PubMed Central

    Ekins, Sean; Litterman, Nadia K.; Arnold, Renée J.G.; Burgess, Robert W.; Freundlich, Joel S.; Gray, Steven J.; Higgins, Joseph J.; Langley, Brett; Willis, Dianna E.; Notterpek, Lucia; Pleasure, David; Sereda, Michael W.; Moore, Allison

    2015-01-01

    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. PMID:25901280

  17. Evaluation of magnetic anomalies located in Lower Bayou Teche, St. Mary Parish, Louisiana

    NASA Astrophysics Data System (ADS)

    Goodwin, R. Christopher; Athens, William P.; Saltus, Allen R., Jr.

    1991-07-01

    This report presents results of testing and assessment of eleven previously recorded magnetic anomalies located in Lower Bayou Teche, St. Mary Parish, Louisiana. Maintenance dredging of Lower Bayou Teche may impact several of the eight anomalies evaluated in this study. Objectives of the study were to conduct detailed surveys and assessments of eight previously located anomalies. These were Anomalies 8, 13, 24a, 29, 30, 31, 33, and 58. Three orther anomalies, Anomaly nos. 23, 24b, and 55 were also briefly examined. Methods used during survey included relocation of each anomaly with a magnetometer; informal magnetic and fathometer survey of each anomaly and its vicinity, physical search of the river bottom at each anomaly location; use of a metal detector to assess the depth of the magnetic source of each anomaly; probing of the river bottom to locate buried structures; and limited excavation with a jet probe to document the source, nature, and research potential of each of the eight anomalies. Two of the anomalies, Anomaly nos. 30 and 58 could not be relocated. Four of the anomalies apparently are associated with modern debris: Anomaly nos. 8, 13, 29, and 31. Anomaly no. 33 appears to be an isolated object. Evidence of structure was observed 14 to 15 ft below water surface, however, it occurs below the project impact zone. One archeological site, the Anomaly no. 23/24 Complex (Site 16SMY76) was defined. It consists of two wooden barges and some twentieth century bridge remains.

  18. Flavobacterium maris sp. nov. isolated from shallow sediments of the Sea of Japan.

    PubMed

    Romanenko, Lyudmila A; Tanaka, Naoto; Svetashev, Vassilii I; Kurilenko, Valeriya V; Mikhailov, Valery V

    2015-09-01

    An aerobic, gram-negative, yellow-pigmented, and non-motile bacterium designated KMM 9535(T) was isolated from a marine sediment sample obtained from the Sea of Japan seashore and subjected to a phylogenetic and phenotypic study. On the basis of 16S rRNA gene sequence analysis, strain KMM 9535(T) was placed to the genus Flavobacterium sharing the highest sequence similarities to Flavobacterium ahnfeltiae KCTC 32467(T) (99.3%), Flavobacterium jumunjinense KCTC 23618(T) (96.5%), Flavobacterium ponti KCTC 22802(T) (96.3%), Flavobacterium urocaniciphilum JCM 19142(T) (96.1%), and Flavobacterium gelidilacus LMG 21477(T) (95.8%). The DNA-DNA hybridization value between strain KMM 9535(T) and the closest related F. ahnfeltiae KCTC 32467(T) was 33%. Strain KMM 9535(T) grew at 5-36 °C and in the presence of 0-3% (w/v) NaCl. It contained MK-6 as the predominant menaquinone, and the major fatty acids were iso-C15:0, iso-C17:1, iso-C15:1, and iso-C17:0 3-OH. The DNA G+C content was 28.8 mol%. On the basis of the results obtained, it is proposed strain KMM 9535(T) to be classified as a novel species of the genus Flavobacterium, Flavobacterium maris sp. nov., with the type strain of the species KMM 9535(T) (=NRIC 0920(T) = KCTC 42093(T)).

  19. Tectonic conditions of hydrothermal polymetallic vein-type mineralization, Sainte Marie-aux-Mines, France

    NASA Astrophysics Data System (ADS)

    Hafeznia, Y.; Bourlange, S.; Ohnenstetter, M.

    2012-04-01

    The Sainte-Marie-aux-Mines (SMM) mines host one of the most famous and oldest silver deposits in Europe. The SMM district is located in the central part of the Vosges mountains, France, within gneiss and granites of the Moldanubian zone. The SMM district includes the Neuenberg E-W vein-type Cu-Ag-As/Pb-Zn deposit and the Altenberg N-S vein-type Pb-Zn-Ag deposit. Deposition of the SMM hydrothermal mineralization occurred under a brittle tectonic regime that might be connected to neo-Variscan and/or post-Variscan tectonics, in a similar way as the polymetallic vein deposits of the Black Forest, Germany. A structural study was done in the Neuenberg area, in the vicinity of the Saint-Jacques vein, and within the Gabe Gottes mine, considering the orientation, extent, chronology and density of faults as well as the nature of the infilling minerals. In the Gabe-Gottes mine, the Saint-Jacques vein comprises multiple successive, sub-parallel subvertical veinlets with gangue minerals, mostly carbonates and quartz, and metal-bearing phases, sulfides and sulfosalts. The veinlets are 2 to 50 cm thick and strike N80° to N110°, the earlier veins slightly dipping towards the north, and the latest one, to the south. Seven systems of faults were identified, which may be classified into three major groups formed respectively before, during and after the main stage of ore deposition: a) Pre-mineralization faults - These consist of sinistral NE-SW strike-slip faults, and NW-SE and NE-SW steeply dipping normal faults. These could be related to Carboniferous events considering their relationships with the granitoid intrusives present in the mine area (Brézouard leucogranite ~329 Ma), and the extensional tectonics developed during exhumation processes. b) Faults associated with the main ore-deposition - These faults could be related to late-Hercynian processes from compressional to extensional tectonic regimes. Mineralization controlling faults consist of dextral and sinistral E

  20. Tectono-sedimentary architecture of Marie-Galante basin (Lesser Antilles fore arc)

    NASA Astrophysics Data System (ADS)

    Lebrun, Jean-Frédéric; Cornée, Jean-Jacques; Münch, Philippe; Guennoc, Pol

    2010-05-01

    Marie-Galante basin in the Lesser Antilles fore arc has experienced high amplitude (up to several thousand meters) vertical movements in response to both local tectonic in the fore-arc (trench perpendicular extensional tectonic) and geodynamical events at the plate interface, such as, long term interplate coupling changes, or ridges subduction or alternating period of under-platting/basal erosion... During the KaShallow cruises, we acquired ca. 3500km of high-resolution multichannel seismic reflection data (sparker and miniGI airgun sources), together with HR multibeam bathymetric (50m gridspacing DTM with ±2m depth precision) in the basin and over the shallow-water carbonate platforms surrounding the fore-arc islands. This geophysical dataset completes already existing seismic reflection data of lower resolution but deeper penetration. A systematic rock sampling using piston and rock corers and 2 ROV dives along remarkable cliffs, together with old dredge samples, provided petrological and sedimentary facies description, and datation (radiochronology and Micro/Nanno fossils) of the main stratigraphic series identified in seismic reflection through the basin. The basin divides into 3 sedimentary environments. We identify the architecture of the offshore carbonate platforms around the fore arc island and between them. Seismic profiles reveal the platforms prograding systems at their boundaries. This allows attempting a correlation between all the onshore/offshore archipelago platforms. Particularly, we evidence that the early Pleistocene upper series outcropping onshore extends offshore, and late Pleistocene/Holocene erosional surfaces are revealed. The "deep bassin", gently deepens southeastward from the volcanic arc islands of Basse-Terre and Dominica to the deep (5000m bsl) forearc basin at the accretionnary prism. Seismic profiles reveal the turbiditic infill of the basin. ROV dives permit to sample early Miocene pelagic sediments, and cores sample the late

  1. Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

    PubMed Central

    Ionasescu, V V; Trofatter, J; Haines, J L; Summers, A M; Ionasescu, R; Searby, C

    1991-01-01

    Three families presenting with X-linked recessive Charcot-Marie-Tooth neuropathies (CMT) were studied both clinically and genetically. The disease phenotype in family 1 was typical of CMT type 1, except for an infantile onset; two of five affected individuals were mentally retarded, and obligate-carrier females were unaffected. Families 2 and 3 showed distal atrophy with weakness, juvenile onset, and normal intelligence. Motor-nerve conduction velocities were significantly slowed, and electromyography data were consistent with denervation in affected CMT males in all three families. Thirty X-linked RFLPs were tested for linkage studies against the CMT disease loci. Family 1 showed tight linkage (recombination fraction [theta] = 0) to Xp22.2 markers DXS16, DXS143, and DXS43, with peak lod scores of 1.75, 1.78, and 2.04, respectively. A maximum lod score of 3.48 at DXS16 (theta = 0) was obtained by multipoint linkage analysis of the map DXS143-DXS16-DXS43. In families 2 and 3 there was suggestion of tight linkage (theta = 0) to Xq26 markers DXS86, DXS144, and DXS105, with peak lod scores of 2.29, 1.33, and 2.32, respectively. The combined maximum multipoint lod score of 1.81 at DXS144 (theta = 0) for these two families occurred in the map DXS10-DXS144-DXS51-DXS105-DXS15-DXS52++ +. A joint homogeneity analysis including both regions (Xp22.2 and Xq26-28) provided evidence against homogeneity (chi 2 = 9.12, P less than .005). No linkage to Xp11.12-q22 markers was observed, as was reported for X-linked dominant CMT and the Cowchock CMT variant. Also, the chromosomes 1 and 17 CMT loci were excluded by pairwise linkage analysis in all three families. PMID:1674639

  2. Myelin protein zero gene sequencing diagnoses Charcot-Marie-Tooth Type 1B disease

    SciTech Connect

    Su, Y.; Zhang, H.; Madrid, R.

    1994-09-01

    Charcot-Marie-Tooth disease (CMT), the most common genetic neuropathy, affects about 1 in 2600 people in Norway and is found worldwide. CMT Type 1 (CMT1) has slow nerve conduction with demyelinated Schwann cells. Autosomal dominant CMT Type 1B (CMT1B) results from mutations in the myelin protein zero gene which directs the synthesis of more than half of all Schwann cell protein. This gene was mapped to the chromosome 1q22-1q23.1 borderline by fluorescence in situ hybridization. The first 7 of 7 reported CMT1B mutations are unique. Thus the most effective means to identify CMT1B mutations in at-risk family members and fetuses is to sequence the entire coding sequence in dominant or sporadic CMT patients without the CMT1A duplication. Of the 19 primers used in 16 pars to uniquely amplify the entire MPZ coding sequence, 6 primer pairs were used to amplify and sequence the 6 exons. The DyeDeoxy Terminator cycle sequencing method used with four different color fluorescent lables was superior to manual sequencing because it sequences more bases unambiguously from extracted genomic DNA samples within 24 hours. This protocol was used to test 28 CMT and Dejerine-Sottas patients without CMT1A gene duplication. Sequencing MPZ gene-specific amplified fragments identified 9 polymorphic sites within the 6 exons that encode the 248 amino acid MPZ protein. The large number of major CMT1B mutations identified by single strand sequencing are being verified by reverse strand sequencing and when possible, by restriction enzyme analysis. This protocol can be used to distringuish CMT1B patients from othre CMT phenotypes and to determine the CMT1B status of relatives both presymptomatically and prenatally.

  3. Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

    PubMed

    Pla-Martín, David; Calpena, Eduardo; Lupo, Vincenzo; Márquez, Celedonio; Rivas, Eloy; Sivera, Rafael; Sevilla, Teresa; Palau, Francesc; Espinós, Carmen

    2015-01-01

    Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), in which carriers of the GDAP1 p.R120W mutation can display a wide range of clinical severity. We investigated the JPH1 gene as a genetic modifier of clinical expression variability because junctophilin-1 (JPH1) is a good positional and functional candidate. We demonstrated that the JPH1-GDAP1 cluster forms a paralogon and is conserved in vertebrates. Moreover, both proteins play a role in Ca(2+) homeostasis, and we demonstrated that JPH1 is able to restore the store-operated Ca(2+) entry (SOCE) activity in GDAP1-silenced cells. After the mutational screening of JPH1 in a series of 24 CMT2K subjects who harbour the GDAP1 p.R120W mutation, we characterized the JPH1 p.R213P mutation in one patient with a more severe clinical picture. JPH1(p.R213P) cannot rescue the SOCE response in GDAP1-silenced cells. We observed that JPH1 colocalizes with STIM1, which is the activator of SOCE, in endoplasmic reticulum-plasma membrane puncta structures during Ca(2+) release in a GDAP1-dependent manner. However, when GDAP1(p.R120W) is expressed, JPH1 seems to be retained in mitochondria. We also established that the combination of GDAP1(p.R120W) and JPH1(p.R213P) dramatically reduces SOCE activity, mimicking the effect observed in GDAP1 knock-down cells. In summary, we conclude that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations.

  4. TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

    PubMed Central

    Shi, Y.; Fecto, F.; Donaghy, M.; Nicholson, G.; McEntagart, M.E.; Crosby, A.H.; Wu, Y.; Lou, H.; McEvoy, K.M.; Siddique, T.; Dyck, P.J.

    2011-01-01

    Objective: To improve understanding of TRPV4-associated axonal Charcot-Marie-Tooth (CMT) neuropathy phenotypes and their debated pathologic mechanism. Methods: A total of 17 CMT2C phenotypic families with vocal cord and diaphragmatic involvement and 36 clinically undifferentiated CMT2 subjects underwent sequencing analysis of the coding region of TRPV4. Functional studies of mutant proteins were performed using transiently transfected cells for TRPV4 subcellular localization, basal and stimulated Ca2+ channel analysis, and cell viability assay with or without channel blockade. Results: Two TRPV4 mutations R232C and R316H from 17 CMT2C families were identified in the ankyrin repeat domains. The R316H is a novel de novo mutation found in a patient with CMT2C phenotype. The family with R232C mutation had individuals with and without vocal cord and diaphragm involvement. Both mutant TRPV4 proteins had normal subcellular localization in HEK293 and HeLa cells. Cells transfected with R232C and R316H displayed increased intracellular Ca2+ levels and reversible cell death by the TRPV channel antagonist, ruthenium red. Conclusion: TRPV4 ankyrin domain alterations including a novel de novo mutation cause axonal CMT2. Individuals with the same mutation may have nondistinct CMT2 or have phenotypic CMT2C with vocal cord paresis. Reversible hypercalcemic gain-of-function of mutant TRPV4 instead of loss-of-function appears to be pathologically important. The reversibility of cell death by channel blockade provides an attractive area of investigation in consideration of treatable axonal degeneration. PMID:21288981

  5. Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy

    PubMed Central

    Sames, Lori; Moore, Allison; Arnold, Renee; Ekins, Sean

    2014-01-01

    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, we can

  6. Feasibility of no-proppant stimulation to enhance removal of methane from the Mary Lee Coalbed

    SciTech Connect

    Lambert, S.W.; Trevits, M.A.

    1980-04-01

    One experimental approach to hydraulic stimulation is to use fluid to propagate fractures but not to incorporate solid proppant material in the design. The elimination of solid material negates problems related to wellbore sand proppant influx and allows better fracture height control since extremely low injection rates can be used. The Mary Lee Coalbed was stimulated using a 53,000 gallon no-proppant treatment at a 1,150 foot deep test well located approximately 1,600 feet in advance of mining. The well produced for 147 days and gas flow rates declined sharply, ceasing when intercepted by mining. Production comparison of the no-proppant test with another test incorporating sand proppant indicates that the 53,000 gallon no-proppant treatment was less effective than the more conventional 21,000 gallon treatment. The results from the no-proppant test indicate that very few roof rock fluid penetrations occurred during the course of hydraulic stimulation. It cannot be determined, however, if sparsity of roof penetration was due to the use of very low injection rates or because roof rock in the physical test area was less jointed and, therefore, less prone to stimulation fluid invasions. Because gas flow results gathered are inconclusive, the application of no-proppant stimulation designs for other than research is not recommended at this time. The lower injection rate approach to fracture height control is, however, theoretically sound and because limiting upward fracture growth in coalbeds may be desirable to future borehole gas drainage activities, no-proppant experiments could be justified on a limited scale.

  7. Integrating research & teaching: the Queen Mary, University of London module in Geodiversity & Geoconservation

    NASA Astrophysics Data System (ADS)

    Gray, M.

    2012-04-01

    The School of Geography at Queen Mary, University of London has been running a Level 6 (undergraduate) module in "Geodiversity & Geoconservation" since 2004. The course is based around the book Geodiversity: valuing and conserving abiotic nature (John Wiley, 2004) but lectures are used to update each topic based on the latest research. The course is divided into 5 parts: 1. Defining and describing geodiversity - which discusses the concept of geodiversity, its definition and the nature of the geodiversity of Planet Earth; 2. Values of, and threats to, geodiversity - a lecture on valuing geodiversity is now based around important research on the role of geodiversity in "ecosystem services" assessments. A second lecture covers the major threats to geodiversity; 3. The protected area approach - lectures here cover geological World Heritage Sites, Global Geoparks, GSSPs, and national geoconservation systems in the UK, USA and other parts of the world; 4. Protecting geodiversity in the wider landscape - the contribution of geology and geomorphology to landscape character are described, together with the role of land-use planning and policy-making in protecting geodiversity. 5. Putting it all together - lectures here emphasize that geodiversity is an important basis for geoconservation, that different geoconservation methods are appropriate to different elements of geodiversity, and that integrated geo/bio conservation is essential. A field trip to three Chalk/Quaternary Sites of Special Scientific Interest in East Sussex is included which discusses some of the planning issues that have arisen at these sites, a theme that is expanded in the lectures.

  8. The ranging behavior of Lemur catta in the region of Cap Sainte-Marie, Madagascar.

    PubMed

    Kelley, Elizabeth A

    2013-01-01

    Large home ranges and extreme flexibility in ranging behaviors characterize most subarid dwelling haplorhines. However, the most comparable extant strepsirhine, Lemur catta, is characterized as having small home ranges with consistent boundaries. Since ranging studies on this species have been limited to gallery forest habitat, the author's goal is to identify ecological factors that affect range use of L. catta in one of the most resource-limited environments of its distribution. To conduct this study, ranging and behavioral data were collected on two nonoverlapping groups through all-day follows in the semidesert scrub environment of Cap Sainte-Marie (CSM), Madagascar. Data were collected from August 2007 through July 2008. Home range areas and day range lengths were generated using ArcGIS(®) 9.3. Other variables measured were habitat composition, diet richness, daily activity, and microclimate. Home range areas of CSM L. catta were very large relative to those of gallery forest L. catta, and there was great monthly variation. In contrast, day range lengths at CSM were either smaller than or approximated the size of comparative gallery forest groups. Temperature, sunning, and diet richness were associated with day range length for one but not for both groups and appear to be related to energy management needs. Based on these findings, the author suggests that L. catta is capable of extensive behavioral and ranging flexibility in the extremes of its environment. However, physiological constraints impose limitations that can interfere with its ability to adapt to even seemingly minor variations in microclimate and habitat structure within the same site.

  9. Mary S. Easton Center of Alzheimer's Disease Research at UCLA: advancing the therapeutic imperative.

    PubMed

    Cummings, Jeffrey L; Ringman, John; Metz, Karen

    2010-01-01

    The Mary S. Easton Center for Alzheimer's Disease Research (UCLA-Easton Alzheimer's Center) is committed to the "therapeutic imperative" and is devoted to finding new treatments for Alzheimer's disease (AD) and to developing technologies (biomarkers) to advance that goal. The UCLA-Easton Alzheimer's Center has a continuum of research and research-related activities including basic/foundational studies of peptide interactions; translational studies in transgenic animals and other animal models of AD; clinical research to define the phenotype of AD, characterize familial AD, develop biomarkers, and advance clinical trials; health services and outcomes research; and active education, dissemination, and recruitment activities. The UCLAEaston Alzheimer's Center is supported by the National Institutes on Aging, the State of California, and generous donors who share our commitment to developing new therapies for AD. The naming donor (Jim Easton) provided substantial funds to endow the center and to support projects in AD drug discovery and biomarker development. The Sidell-Kagan Foundation supports the Katherine and Benjamin Kagan Alzheimer's Treatment Development Program, and the Deane F. Johnson Alzheimer's Research Foundation supports the Deane F. Johnson Center for Neurotherapeutics at UCLA. The John Douglas French Alzheimer's Research Foundation provides grants to junior investigators in critical periods of their academic development. The UCLA-Easton Alzheimer's Center partners with community organizations including the Alzheimer's Association California Southland Chapter and the Leeza Gibbons memory Foundation. Collaboration with pharmaceutical companies, biotechnology companies, and device companies is critical to developing new therapeutics for AD and these collaborations are embraced in the mission of the UCLA-Easton Alzheimer's Center. The Center supports excellent senior 3 investigators and serves as an incubator for new scientists, agents, models, technologies

  10. Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.

    PubMed

    Villalón, E; Jones, M R; Sibigtroth, C; Zino, S J; Dale, J M; Landayan, D S; Shen, H; Cornelison, D D W; Garcia, M L

    2017-02-01

    Charcot-Marie-Tooth (CMT) is the most common inherited peripheral neuropathy, affecting approximately 2.8 million people. The CMT leads to distal neuropathy that is characterized by reduced motor nerve conduction velocity, ataxia, muscle atrophy and sensory loss. We generated a mouse model of CMT type 2E (CMT2E) expressing human neurofilament light E396K (hNF-L(E396K) ), which develops decreased motor nerve conduction velocity, ataxia and muscle atrophy by 4 months of age. Symptomatic hNF-L(E396K) mice developed phenotypes that were consistent with proprioceptive sensory defects as well as reduced sensitivity to mechanical stimulation, while thermal sensitivity and auditory brainstem responses were unaltered. Progression from presymptomatic to symptomatic included a 50% loss of large diameter sensory axons within the fifth lumbar dorsal root of hNF-L(E396K) mice. Owing to proprioceptive deficits and loss of large diameter sensory axons, we analyzed muscle spindle morphology in presymptomatic and symptomatic hNF-L(E396K) and hNF-L control mice. Muscle spindle cross-sectional area and volume were reduced in all hNF-L(E396K) mice analyzed, suggesting that alterations in muscle spindle morphology occurred prior to the onset of typical CMT pathology. These data suggested that CMT2E pathology initiated in the muscle spindles altering the proprioceptive sensory system. Early sensory pathology in CMT2E could provide a unifying hypothesis for the convergence of pathology observed in CMT.

  11. Peer Review Evaluation Process of Marie Curie Actions under EU's Seventh Framework Programme for Research.

    PubMed

    Pina, David G; Hren, Darko; Marušić, Ana

    2015-01-01

    We analysed the peer review of grant proposals under Marie Curie Actions, a major EU research funding instrument, which involves two steps: an independent assessment (Individual Evaluation Report, IER) performed remotely by 3 raters, and a consensus opinion reached during a meeting by the same raters (Consensus Report, CR). For 24,897 proposals evaluated from 2007 to 2013, the association between average IER and CR scores was very high across different panels, grant calls and years. Median average deviation (AD) index, used as a measure of inter-rater agreement, was 5.4 points on a 0-100 scale (interquartile range 3.4-8.3), overall, demonstrating a good general agreement among raters. For proposals where one rater disagreed with the other two raters (n=1424; 5.7%), or where all 3 raters disagreed (n=2075; 8.3%), the average IER and CR scores were still highly associated. Disagreement was more frequent for proposals from Economics/Social Sciences and Humanities panels. Greater disagreement was observed for proposals with lower average IER scores. CR scores for proposals with initial disagreement were also significantly lower. Proposals with a large absolute difference between the average IER and CR scores (≥10 points; n=368, 1.5%) generally had lower CR scores. An inter-correlation matrix of individual raters' scores of evaluation criteria of proposals indicated that these scores were, in general, a reflection of raters' overall scores. Our analysis demonstrated a good internal consistency and general high agreement among raters. Consensus meetings appear to be relevant for particular panels and subsets of proposals with large differences among raters' scores.

  12. Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

    PubMed Central

    Braathen, Geir J; Sand, Jette C; Bukholm, Geir; Russell, Michael B

    2007-01-01

    Background X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. Methods We describe two novel mutations in the connexin32 gene in two Norwegian families. Results Family 1 had a c.225delG (R75fsX83) which causes a frameshift and premature stop codon at position 247. This probably results in a shorter non-functional protein structure. Affected individuals had an early age at onset usually in the first decade. The symptoms were more severe in men than women. All had severe muscle weakness in the legs. Several abortions were observed in this family. Family 2 had a c.536 G>A (C179Y) transition which causes a change of the highly conserved cysteine residue, i.e. disruption of at least one of three disulfide bridges. The mean age at onset was in the first decade. Muscle wasting was severe and correlated with muscle weakness in legs. The men and one woman also had symptom from their hands. The neuropathy is demyelinating and the nerve conduction velocities were in the intermediate range (25–49 m/s). Affected individuals had symmetrical clinical findings, while the neurophysiology revealed minor asymmetrical findings in nerve conduction velocity in 6 of 10 affected individuals. Conclusion The two novel mutations in the connexin32 gene are more severe than the majority of previously described mutations possibly due to the severe structural change of the gap junction they encode. PMID:17620124

  13. GLANAM (Glaciated North Atlantic Margins): A Marie Curie Initial Training Network between Norway, the UK & Denmark

    NASA Astrophysics Data System (ADS)

    Petter Sejrup, Hans; Oline Hjelstuen, Berit

    2015-04-01

    GLANAM (Glaciated North Atlantic Margins) is an Initial Training Network (ITN) funded under the EU Marie Curie Programme. It comprises 10 research partners from Norway, UK and Denmark, including 7 University research teams, 1 industrial full partner and 2 industrial associate partners. The GLANAM network will employ and train 15 early career researchers (Fellows). The aim of GLANAM is to improve the career prospects and development of young researchers in both the public and private sector within the field of earth science, focusing on North Atlantic glaciated margins. The young scientists will perform multi-disciplinary research and receive training in geophysics, remote sensing, GIS, sedimentology, geomorphology, stratigraphy, geochemistry and numerical modeling through three interconnected work packages that collectively address knowledge gaps related to the large, glacial age, sedimentary depocentres on the North Atlantic margin. The 15 Fellows will work on projects that geographically extend from Ireland in the south to the High Arctic. Filling these gaps will not only result in major new insights regarding glacial age processes on continental margins in general, but will also provide paleoclimate information essential for understanding the role of marine-based ice sheets in the climate system and for the testing of climate models. GLANAM brings together leading European research groups working on glaciated margins in a coordinated and collaborative research and training project. Focusing on the North Atlantic margins, this coordinated approach will lead to a major advance in the understanding of glaciated margins more widely and will fundamentally strengthen European research and build capacity in this field.

  14. [Molecular diagnosis of axonal forms of Charcot-Marie-Tooth disease].

    PubMed

    Latour, P; Vial, C

    2009-12-01

    Charcot-Marie-Tooth (CMT) disease is the most common cause of inherited peripheral neuropathies with a frequency estimated at 1/2500. Electroneuromyographic examination distinguishes a myelinic form (CMT1) and an axonal form of the disease (CMT2). Significant genetic heterogeneity is found in CMT, with 15 genes or loci for CMT2. To date, a molecular diagnosis has not been established for most CMT2 patients and the distribution of identified mutations is wide spreading over nearly all genes. Simple guidelines for daily practice are difficult to establish from compilation of mutation reports or consultation of databases; little simplification can be expected from future findings. We present our results of molecular diagnosis for 251 CMT2 index cases characterized by their mode of inheritance (217 dominant and 34 recessive cases), and a motor conduction velocity in median nerve equal to or above to 38m/s. For each case, at least one of the genes known to date for CMT2 (MFN2, RAB7, GARS, NF-L, HSPB1, GDAP1, MPZ, HSPB8, GJB1, DNM2, YARS, LMNA, and MED25) was studied. Around 22% of diagnoses were established and efficiency was comparable for dominant or recessive cases. For dominant cases, the first objective was to search for mutations of proteins connexin32, mitofusin2 and P0. For recessive cases, GDAP1 provided the key to molecular diagnosis; lamin A/C mutations were only found for patients with an ethnic background from North Africa. Heat shock proteins HSPB1 and HSPB8 were implicated in a significant proportion of "spinal" (or pure motor) CMT2. NF-L or RAB7 mutations were rare. We did not identify any deleterious mutations in GARS, DNM2, YARS orMED2. We propose a simple decision tree for molecular diagnosis of CMT2.

  15. Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy.

    PubMed

    Alberti, Maria A; Mori, Laura; Francini, Luca; Poggi, Ilaria; Monti Bragadin, Margherita; Bellone, Emilia; Grandis, Marina; Maggi, Giovanni; Reni, Lizia; Sormani, Maria P; Tacchino, Andrea; Padua, Luca; Prada, Valeria; Bove, Marco; Schenone, Angelo

    2015-12-01

    To describe a new test to quantitatively evaluate hand function in patients affected by Charcot-Marie-Tooth neuropathy (CMT). The sensor-engineered glove test (SEGT) was applied to CMT patients (N: 26) and compared with a cohort of healthy controls (HC, N: 26). CMT patients were further divided into subjects with clinically normal (group 1) or impaired hand (group 2) function. The SEGT parameters evaluated were touch duration, inter-tapping interval, and movement rate parameters of two different sequences: finger tapping (FT) and index-medium-ring-little (IMRL) performed at self-paced mode (SPM) and maximum velocity (MV). Hand function and strength were assessed by the 9-hole peg test (9HPT) and dynamometry. Disability of patients was measured by the CMT neuropathy score. CMT patients had significantly worst performances at SEGT than controls regarding the rate of execution of both FT (at MV) and IMRL sequences (at SPM and MV). The rate parameter at MV in IMRL sequence showed a significant trend of decreasing in its average between HC (n: 26, rate = 3.08 ± 0.52 Hz), group 1 (n: 9, rate = 2.64 ± 0.66 Hz) and group 2 (n: 17, rate = 2.19 ± 0.45 Hz) (p for trend <0.001). No correlations were found with either 9HPT, dynamometry, electrophysiology, and the CMT neuropathy score. The SEGT test is sensitive to show hand dysfunction in CMT patients, with and without clinically impaired hands.

  16. Planning and executing a lampricide treatment of the St. Marys River using georeferenced data

    USGS Publications Warehouse

    Fodale, Michael F.; Bergstedt, Roger A.; Cuddy, Douglas W.; Adams, Jean V.; Stolyarenko, Dimitri A.

    2003-01-01

    The St. Marys River is believed to be the primary source of sea lampreys (Petromyzon marinus) in Lake Huron. Planning or evaluating lampricide treatments required knowing where lampricides could effectively be placed and where larvae were located. Accurate maps of larval density were therefore critical to formulating or evaluating management strategies using lampricides. Larval abundance was systematically assessed with a deepwater electrofishing device at 12,000 georeferenced locations during 1993 to 1996. Maps were produced from catches at those locations, providing georeferenced detail previously unavailable. Catches were processed with a geographic information system (GIS), to create a map of larval density. Whole-river treatment scenarios using TFM (3-trifluoromethyl-4-nitrophenol) were evaluated by combining the map with one of lethal conditions predicted by a lampricide-transport model. The map was also used to evaluate spot treatment scenarios with a granular, bottom-release formulation of another lampricide, Bayluscide (2',5-dichloro-4'-nitro-salicylanilide). Potential high-density plots for Bayluscide treatment were selected from the map and estimates of area, cost, and larval population were developed using the GIS. Plots were ranked by the cost per larva killed. Spot treatments were found to be more cost effective than a conventional TFM treatment and Bayluscide was applied to 82 ha in 1998 and 759 ha in 1999. Effectiveness was estimated with stratified-random sampling before and after treatment in 1999 at 35%. Ten percent already had been removed in 1998, for a total reduction of 45% percent. This marked a change in how research and planning were combined in sea lamprey management to minimize treatment costs and evaluate success.

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

    PubMed Central

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

    2014-01-01

    BACKGROUND: 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. OBJECTIVE: 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. METHOD: 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. RESULTS: 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). CONCLUSIONS: 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. PMID:25076001

  18. Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.

    PubMed

    Hayashi, Makiko; Abe, Akiko; Murakami, Tatsufumi; Yamao, Satoshi; Arai, Hidee; Hattori, Hideji; Iai, Mizue; Watanabe, Kyoko; Oka, Nobuyuki; Chida, Keiji; Kishikawa, Yumiko; Hayasaka, Kiyoshi

    2013-05-01

    Charcot-Marie-Tooth disease (CMT), the most common hereditary neuropathy, has been classified into two types, demyelinating and axonal types. We previously analyzed the genes causing dominant demyelinating CMT in 227 Japanese patients to identify the genetic background, but could not find any mutations in 110 patients. To investigate the frequency of patients with autosomal recessive demyelinating CMT (CMT4) mutations, we analyzed the coding sequence of known causative genes of CMT4 in 103 demyelinating CMT patients, excluding seven patients owing to lack of specimens. We found one patient with a GDAP1 mutation, one patient with an MTMR2 mutation, two patients with SH3TC2/KIAA1985 mutations and three patients with FGD4 mutations. Twelve patients, including five previously detected patients with PRX mutations, were diagnosed as CMT4, accounting for 5.5% of demyelinating CMT. In the patient with GDAP1 mutation, only one mutation inherited from his mother was detected by genomic sequencing. Analysis by reverse transcription polymerase chain reaction using messenger RNA (mRNA) from the patient's leukocytes revealed the absence of transcription from the allele inherited from his father, suggesting the existence of one more mutation leading to a lack or destabilization of mRNA. Most patients carrying CMT4 gene mutations present with early-onset and slowly progressive symptoms, which may be associated with the function of mutants. We could not identify the disease-causing gene in 96 patients (about 45%). Further studies including studies with next-generation sequencers will be required to identify the causative gene in Japanese CMT.

  19. A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

    PubMed Central

    2014-01-01

    Background Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) is a ubiquitin-protein ligase with a role in sorting internalised cell-surface receptor proteins. So far, mutations in the LRSAM1 gene have been shown to cause axonal CMT in three different families and can confer either dominant or recessive transmission of the disease. Case presentation We have identified a novel mutation in LRSAM1 in a small family with dominant axonal CMT. Electrophysiological studies show evidence of a sensory axonal neuropathy and are interesting in so far as giant motor unit action potentials (MUAPs) are present on needle electromyography (EMG), while motor nerve conduction studies including compound motor action potential (CMAP) amplitudes are completely normal. The underlying mutation c.2046+1G >T results in the loss of a splice donor site and the inclusion of 63 additional base pairs of intronic DNA into the aberrantly spliced transcript. This disrupts the catalytically active RING (Really Interesting New Gene) domain of LRSAM1. Conclusions Our findings suggest that, beyond the typical length-dependent degeneration of motor axons, damage of cell bodies in the anterior horn might play a role in LRSAM1-associated neuropathies. Moreover, in conjunction with other data in the literature, our results support a model, by which disruption of the C-terminal RING domain confers dominant negative properties to LRSAM1. PMID:24894446

  20. The Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein

    PubMed Central

    Qin, Wenxia; Wunderley, Lydia; Barrett, Anne L.; High, Stephen; Woodman, Philip G.

    2016-01-01

    LITAF (LPS-induced TNF-activating factor) is an endosome-associated integral membrane protein important for multivesicular body sorting. Several mutations in LITAF cause autosomal-dominant Charcot Marie Tooth disease type 1C. These mutations map to a highly conserved C-terminal region, termed the LITAF domain, which includes a 22 residue hydrophobic sequence and flanking cysteine-rich regions that contain peptide motifs found in zinc fingers. Although the LITAF domain is thought to be responsible for membrane integration, the membrane topology of LITAF has not been established. Here, we have investigated whether LITAF is a tail-anchored (TA) membrane-spanning protein or monotopic membrane protein. When translated in vitro, LITAF integrates poorly into ER-derived microsomes compared with Sec61β, a bona fide TA protein. Furthermore, introduction of N-linked glycosylation reporters shows that neither the N-terminal nor C-terminal domains of LITAF translocate into the ER lumen. Expression in cells of an LITAF construct containing C-terminal glycosylation sites confirms that LITAF is not a TA protein in cells. Finally, an immunofluorescence-based latency assay showed that both the N- and C-termini of LITAF are exposed to the cytoplasm. Recombinant LITAF contains 1 mol/mol zinc, while mutation of predicted zinc-binding residues disrupts LITAF membrane association. Hence, we conclude that LITAF is a monotopic membrane protein whose membrane integration is stabilised by a zinc finger. The related human protein, CDIP1 (cell death involved p53 target 1), displays identical membrane topology, suggesting that this mode of membrane integration is conserved in LITAF family proteins. PMID:27582497

  1. Minimally Invasive Early Operative Treatment of Progressive Foot and Ankle Deformity Associated With Charcot-Marie-Tooth Disease.

    PubMed

    Boffeli, Troy J; Tabatt, Jessica A

    2015-01-01

    Charcot-Marie-Tooth disease is a neuromuscular disorder that commonly results in a predictable pattern of progressive bilateral lower extremity weakness, numbness, contracture, and deformity, including drop foot, loss of ankle eversion strength, dislocated hammertoes, and severe cavus foot deformity. Late stage reconstructive surgery will be often necessary if the deformity becomes unbraceable or when neuropathic ulcers have developed. Reconstructive surgery for Charcot-Marie-Tooth deformity is generally extensive and sometimes staged. Traditional reconstructive surgery involves a combination of procedures, including tendon lengthening or transfer, osteotomy, and arthrodesis. The described technique highlights our early surgical approach, which involves limited intervention before the deformity becomes rigid, severe, or disabling. We present 2 cases to contrast our early minimally invasive technique with traditional late stage reconstruction. Charcot-Marie-Tooth disease affects different muscles at various stages of disease progression. As 1 muscle becomes weak, the antagonist will overpower it and cause progressive deformity. The focus of the early minimally invasive approach is to decrease the forces that cause progressive deformity yet maintain function, where possible. Our goal has been to maintain a functional and braceable foot and ankle, with the hope of avoiding or limiting the extent of future major reconstructive surgery. The presented cases highlight the patient selection criteria, the ideal timing of early surgical intervention, the procedure selection criteria, and operative pearls. The early minimally invasive approach includes plantar fasciotomy, Achilles tendon lengthening, transfer of the peroneus longus to the fifth metatarsal, Hibbs and Jones tendon transfer, and hammertoe repair of digits 1 to 5.

  2. The contribution of Dr. Mary Walker towards myasthenia gravis and periodic paralysis whilst working in poor law hospitals in London.

    PubMed

    Johnston, J D

    2005-06-01

    Dr. Mary Walker discovered in 1934 that physostigmine and Prostigmin temporarily restored muscle function in patients with myasthenia gravis. In the next five years, Dr. Walker and colleagues provided clinical evidence for the weakness of myasthenia gravis being caused by a "disturbance of transmission of excitation from motor nerve to voluntary muscle presumably caused by a deficiency of acetylcholine. Physostigmine (or Prostigmin) compensated for the lack of acetylcholine by delaying its destruction." Dr. Walker and colleagues also described the association between familial periodic paralysis and hypokalaemia.

  3. Paleomagnetic study of the northern Ford Ranges, western Marie Byrd Land, West Antarctica: Motion between West and East Antarctica

    USGS Publications Warehouse

    Luyendyk, B.; Cisowski, S.; Smith, C.; Richard, S.; Kimbrough, D.

    1996-01-01

    A paleomagnetic study of Paleozoic and Mesozoic crystalline rocks in the northern Ford Ranges of Marie Byrd Land, West Antarctica, has determined a middle Cretaceous (circa 100 Ma) paleomagnetic pole and provided constraints on possible clockwise rotation of these ranges and on the rifting of east Gondwana. The 40Ar/39Ar thermochronology data from the Fosdick Mountains record a period of rapid cooling from ???700??C beginning at ???100 Ma. We relate this to extension, intrusion, and uplift associated with the beginning of rifting between Campbell Plateau and Marie Byrd Land. All rocks from the Fosdick and Chester Mountains are normally polarized. We interpret thermochronology and paleomagnetic data to infer that the region was extensively remagnetized in middle Cretaceous time. Inclinations in samples from the Chester Mountains are less steep than those from the Fosdick Mountains, which we interpret as ???25?? of south tilting of the Chesters. We interpret cooling age data for the time of magnetization to infer that the tilting began after 105 Ma and ended prior to 103 Ma. We further interpret this as constraining the beginning of extension between the Campbell Plateau and western Marie Byrd Land to the interval 105 to 103 Ma. Virtual geomagnetic poles from samples of Early Carboniferous age granodiorite from the western Phillips Mountains lie on the late Paleozoic apparent polar wander path for Australia transferred to Antarctica. Directions from 29 sites in the central and eastern Phillips and Fosdick Mountains give a Middle Cretaceous paleomagnetic pole at 222.3?? E, 70.5?? S (A95 6.1??, KAPPA 20.0). This pole is indistinguishable from other Middle Cretaceous poles for studies further east in Marie Byrd Land. Combining middle Cretaceous poles determined for three other studies of the Antarctic Peninsula. Thurston Island, and the Ruppert-Hobbs coasts with ours gives a Pacific West Antarctic pole at 215.2?? E, 73.5?? S (A95 4.0??, KAPPA 528.9). This pole is

  4. The first woman doctor from Aberystwyth: Mary Angharad Guy (née Hughes) (1905-1994).

    PubMed

    Owen, Buddug

    2004-11-01

    Mary Angharad Guy was born one of three daughters of an affluent seafaring family. After preclinical education in Cardiff she proceeded to Charing Cross Hospital, London, for her clinical studies and on qualification worked with eminent men. She married John Guy, who became county medical officer for Westmorland, and they had three children. She gave up her career after marriage and it was another 15 years before she returned to work, to undertake school and baby clinics. She was a woman of outstanding promise and gifted artistically, but she was caught in a social trap between the wars, when women were expected to give up professional careers on marriage.

  5. Fine needle aspiration biopsy of gastrointestinal stromal tumor presenting as an umbilical mass (Sister Mary Joseph's Nodule).

    PubMed

    Scudeler, Donizete; Wakely, Paul E

    2006-04-01

    The Sister Mary Joseph (SMJ) nodule is a clinical sign of metastatic cancer involving the umbilicus. The vast majority of these instances represent adenocarcinomas arising from ovarian or colorectal primaries. We present a patient who presented with ascites and the SMJ lesion that turned out to be a metastatic gastrointestinal stromal tumor after fine needle aspiration biopsy was performed. The lesion was subsequently histologically confirmed. Gastrointestinal stroma tumor involving the umbilicus is exceedingly uncommon and only rarely presents in this fashion. The cytomorphological features, differential diagnosis, and comparison with the tissue specimen are made.

  6. [Foix-Chavany-Marie syndrome: anarthria and severe dyphagia after sequential bilateral infarction of the middle cerebral artery].

    PubMed

    Guhra, M; Poppenborg, M; Hagemeister, C

    2008-02-01

    Bilateral lesions of the opercula frontoparietalia are uncommon and cause a symptom cluster including anarthria, severe dysphagia, inability to chew and sometimes facial paresis. At the same time there is an automatic-voluntary dissociation, meaning that the affected muscles are functional within the scope of involuntary movements. This syndrome is known as Foix-Chavany-Marie syndrome (FCMS), (bilateral) anterior operculum syndrome or facio-pharyngo-glosso-masticatory diplegia. We report the case of a patient who suffered from FCMS after having infarctions in the territory of the middle cerebral artery on each side 4 years apart.

  7. Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).

    PubMed

    Postelmans, J T F; Stokroos, R J

    2006-06-01

    Charcot-Marie-Tooth disease (CMT), also named hereditary motor and sensory neuropathies (HMSN), comprises a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. Deafness induced by CMT is clinically distinct among the genetically heterogeneous group of CMT disorders. Deafness in CMT patients is associated with point mutations or deletions in the transmembrane domain in the peripheral myelin gene (PMP) 22, which are in close proximity to the extracellular component of this gene. We present a patient with deafness induced by CMT type 1A, undergoing cochlear implantation. Prior investigations showed good results due to replacing a synchronous impulse by means of cochlear implantation in patients with auditory neuropathy.

  8. The performance of M-ary FH-DPSK in the presence of partial-band multitone jamming

    NASA Technical Reports Server (NTRS)

    Simon, M. K.

    1982-01-01

    Using a geometric approach, the performance of M-ary FH-DPSK in the presence of partial-band multitone jamming is evaluated. The optimal jamming strategy is determined as a function of the number of signaling levels M and the ensuing results are used to determine worst case bit error probability performance as a function of this same parameter. It is demonstrated that, for M = 2 to the m power (where m is an integer), the best performance is obtained for M = 4.

  9. Harvey Cushing and pituitary Case Number 3 (Mary D.): the origin of this most baffling problem in neurosurgery.

    PubMed

    Pascual, José María; Prieto, Ruth

    2016-07-01

    From the very beginning of his career, Harvey Williams Cushing (1869-1939) harbored a deep interest in a complex group of neoplasms that usually developed at the infundibulum. These were initially known as "interpeduncular" or "suprasellar" cysts. Cushing introduced the term "craniopharyngioma" for these lesions, which he believed represented one of the most baffling problems faced by neurosurgeons. The patient who most influenced Cushing's thinking was a 16-year-old seamstress named "Mary D.," whom he attended in December 1901, exactly the same month that Alfred Fröhlich published his seminal article describing an adiposogenital syndrome in a young boy with a pituitary cyst. Both Cushing's and Fröhlich's patients showed similar symptoms caused by the same type of tumor. Notably, Cushing and Fröhlich had met one another and became good friends in Liverpool the summer before these events took place. Their fortunate relationship led Cushing to realize that Fröhlich's syndrome represented a state of hypopituitarism and provided a useful method of diagnosing interpeduncular cysts. It is noteworthy that Cushing's very first neurosurgical procedure on a pituitary tumor was performed in the case of Mary D.'s "interpeduncular cyst," on February 21, 1902. Cushing failed to remove this lesion, which was later found during the patient's autopsy. This case was documented as Pituitary Case Number 3 in Cushing's masterpiece, The Pituitary Body and Its Disorders, published in 1912. This tumor was considered "a teratoma"; however, multiple sources of evidence suggest that this lesion actually corresponded to an adamantinomatous craniopharyngioma. Unfortunately, the pathological specimens of this lesion were misplaced, and this prompted Cushing's decision to retain all specimens and documents of the cases he would operate on throughout his career. Accordingly, Mary D.'s case crystallized the genesis of the Cushing Brain Tumor Registry, one of Cushing's major legacies to

  10. New data on Pleistocene and Holocene herpetofauna of Marie Galante (Blanchard Cave, Guadeloupe Islands, French West Indies): Insular faunal turnover and human impact

    NASA Astrophysics Data System (ADS)

    Bailon, S.; Bochaton, C.; Lenoble, A.

    2015-11-01

    This work presents the herpetofaunal remains collected from Blanchard Cave (Marie-Galante, Guadeloupe Archipelago). This site has yielded the oldest stratigraphic layers (around 40,000 BP) of the island, along with data concerning the herpetofaunal biodiversity of the island from the Late Pleistocene to pre-Columbian and modern times. The study of these fossil remains reveals the presence of at least 11 amphibian and squamata taxa (Eleutherodactylus cf. martinicensis, Iguana sp., Anolis ferreus, Leiocephalus cf. cuneus, Thecadactylus cf. rapicauda, cf. Capitellum mariagalantae, Ameiva sp., cf. Antillotyphlops, Boa sp., Alsophis sp. and Colubridae sp. 2) during the Late Pleistocene and Holocene on Marie-Galante Island and provides new evidence concerning extinction times and the introduced or native status of taxa. This study also reveals that this bone assemblage is the result of diverse accumulation processes and provides new morphological data on the past herpetofauna of Marie-Galante.

  11. [The union of three families of apothecaries in Paris in the 17th and 18th centuries--The apothecaries François Pihoué, François Regnault, Henry Charas and Marie Fourneau].

    PubMed

    Warolin, Christian

    2015-06-01

    The family network started with Marie Fourneau, daughter of the apothecary Jacques Fourneau, married successively two apothecaries first François Pihoué and then François Regnault and whose only daughter Marie Anne married the apothecary Henry Charas grandson of the famous apothecary Moyse Charas.

  12. The reproductive success of lake herring in habitats near shipping channels and ice-breaking operations in the St. Marys River, Michigan, USA

    USGS Publications Warehouse

    Blouin, Marc A.; Kostich, M.M.; Todd, T.N.; Savino, J.F.

    1998-01-01

    A study of the reproductive success of lake herring (Coregonus artedi) in the St. Marys River was conducted in the winters and springs of 1994, 1995, and 1996. The St. Marys River connects Lake Superior to the lower Great Lakes making it an important route for ship traffic. Recent pressure by commercial carriers to extend the shipping season by breaking ice earlier in spring, has raised concerns over the possible adverse effects on lake herring reproduction in the river caused by increased turbidity associated with vessel passage. Lake herring spawn in fall and their eggs overwinter under ice cover on the bottom of the St. Marys River. Hatching occurs in the spring after ice-out when water temperatures rise. Specialized incubators were used to hold fertilized lake herring eggs at four experimental sites, chosen to represent the range of various bottom substrate types of the St. Marys River from boulder rock reefs to soft sediments. In winter, incubators were placed under the ice on the bottom of the river at three sites each year. After ice-out, sites were relocated, and the incubators were retrieved and opened to determine the number of live and dead lake herring eggs and larvae. Survival was consistent from year to year at each site with the lowest survival percentage found at the site with the softest sediments, directly adjacent to the St. Marys River channel and downstream of the mouth of the Charlotte River. River bottom type and geographic location were the most important factors in determining egg survival. Sampling for indigenous larval lake herring was done throughout the spring hatching season in the areas adjacent to the incubator sites using nets and a diver-operated suction sampler. Result indicate that a small population (3) of larval lake herring was present throughout the sampling areas during the springs of 1994, 1995, and 1996 in the St. Marys River.

  13. MaRIE 1.0: The Matter-Radiation Interactions in Extremes Project, and the Challenge of Dynamic Mesoscale Imaging

    SciTech Connect

    Barnes, Cris William; Barber, John L.; Kober, Edward Martin; Lookman, Turab; Sandberg, Richard L.; Shlachter, Jack S.; Sheffield, Richard L.

    2015-02-23

    The Matter-Radiation Interactions in Extremes project will build the experimental facility for the time-dependent control of dynamic material performance. An x-ray free electron laser at up to 42-keV fundamental energy and with photon pulses down to sub-nanosecond spacing, MaRIE 1.0 is designed to meet the challenges of time-dependent mesoscale materials science. Those challenges will be outlined, the techniques of coherent diffractive imaging and dynamic polycrystalline diffraction described, and the resulting requirements defined for a coherent x-ray source. The talk concludes with the role of the MaRIE project and science in the future.

  14. The Case for a Late Oligocene-Early Miocene Ice Sheet in Marie Byrd Land

    NASA Astrophysics Data System (ADS)

    Lemasurier, W. E.; Rocchi, S.

    2004-12-01

    A rough estimate of Neogene climate history can be inferred for coastal Marie Byrd Land (MBL) from the record contained in volcanic deposits, and from anomalies in the erosion characteristics of Cenozoic volcanic and plutonic features. As a prelude to the Neogene, a 34 Ma gabbroic pluton in eastern MBL was exhumed by removal of at least 4 km of overburden, apparently during a period of rapid uplift and erosion between 34 and 25 Ma. The depth of erosion represented by the exposure of this pluton contrasts sharply with the generally minimal erosion that seems to have characterized the MBL environment throughout much of the Neogene. Thus, the Neogene seems to have been ushered in by a pronounced decrease in erosion rate that has climatic implications. Late Oligocene hydrovolcanic deposits at the summit of Mt. Petras, on the crest of the MBL dome, seem to record the presence of glacial ice at the time they were erupted (25-29 Ma). However, uplift of the dome did not begin until the early Neogene, and the landscape 25 m.y. ago was probably one of very low relief, represented by the West Antarctic erosion surface. The inferred glacial ice was therefore most likely an ice sheet, rather than a mountain glacier. Although tentative, and contrary to interpretations of the deep sea proxy record, this suggestion of mid-Tertiary glaciation in West Antarctica is supported by two other lines of evidence. (1) The deep dissection of Mt. Petras (Oligocene and older rocks) by glacial cirques is anomalous when compared with nearby mid-Miocene (12-14 Ma) Mt. Hampton volcano, which is virtually untouched by erosion. Our analysis of this anomaly suggests that the Petras cirques were cut mainly before Mt. Hampton formed, i.e. between 14 Ma and 25 Ma, as the Petras fault block was rising. (2) Further support can be found in recently reported seismic-stratigraphic evidence for grounding of an expanded West Antarctic ice sheet in the Ross Sea around 15-17 Ma. Although the MBL data are

  15. Marie Rozette and her world: class, ethnicity, gender, and race in late eighteenth- and early nineteenth-century Mauritius.

    PubMed

    Allen, Richard B

    2011-01-01

    In 1790, Marie Rozette, a freedwoman of Indian origin on Mauritius, executed a series of notarial acts which revealed that she possessed a small fortune in cash assets as well as slaves and substantial landed property in one of the island’s rural districts. The life of this former slave between 1776, when she first appears in the archival record, and her death in 1804 provides a vantage point from which to gain a subaltern perspective on aspects of Mascarene social and economic history, as well as developments in the wider Indian Ocean world during the late eighteenth and early nineteenth centuries. Marie Rozette’s life history challenges the notion that free persons of color in Mauritius were little more than an “unappropriated” people, and invites us to consider how supposedly marginalized individuals were able to cross various socio-economic and cultural boundaries. More specifically, her life affords an opportunity to consider the ways in which class, ethnicity, and gender, as well as race, interacted to create a distinctive Creole society in Mauritius, the nature and dynamics of which bear directly on our knowledge and understanding of the free colored experience elsewhere in the European colonial slave plantation world.

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

    PubMed

    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.

  17. The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two Cases

    PubMed Central

    Dimitrova, Erieta Nikolikj; Božinovikj, Ivana; Ristovska, Simona; Pejcikj, Aleksandra Hadzieva; Kolevska, Aleksandra; Hasani, Mirjeta

    2016-01-01

    BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a hereditary disease with signs of chronic non-progressive motor-sensory neuropathy which is characterised by symmetric muscle atrophy and weakness of the distal portion of lower extremities. AIM: The aim is to present two cases with peroneal muscular atrophy, applied rehabilitation procedures and rehabilitation outcome. MATERIAL AND METHODS: Patient DR, aged 51, and patient KH, aged 78. Both patients had weakness and pronounced atrophy of the distal portion of lower extremities, numbness down the legs, contractures in the ankles and walking difficulties. Evaluation of patients included a clinical examination, Barthel Index, Time Up and Go test, measurement of the ankle range of motion, and a manual muscle test. On admission, the Barthel Index score was 60 in the first case, and 80 in the second. The rehabilitation program included exercise therapy with for lower extremity, occupational therapy, stationary bicycle riding, galvanic current, water exercises, and ankle-foot orthoses for both legs. RESULTS: The therapy applied had no significant changes in the clinical neurological status of the patients, but yet it provided some improvement in ankle contractures, better mobility, and a more stable gait. CONCLUSION: The application of rehabilitation procedures in patients with Charcot-Marie-Tooth disease can improve their functional status and walking stability. PMID:27703571

  18. Assessing assessment: Can the expected effects of the St. Marys River sea lamprey control strategy be detected?

    USGS Publications Warehouse

    Adams, Jean V.; Bergstedt, Roger A.; Christie, Gavin C.; Cuddy, Douglas W.; Fodale, Michael F.; Heinrich, John W.; Jones, Michael L.; McDonald, Rodney B.; Mullett, Katherine M.; Young, Robert J.

    2003-01-01

    In 1997 the Great Lakes Fishery Commission approved a 5-year (1998 to 2002) control strategy to reduce sea lamprey (Petromyzon marinus) production in the St. Marys River, the primary source of parasitic sea lampreys in northern Lake Huron. An assessment plan was developed to measure the success of the control strategy and decide on subsequent control efforts. The expected effects of the St. Marys River control strategy are described, the assessments in place to measure these effects are outlined, and the ability of these assessments to detect the expected effects are quantified. Several expected changes were predicted to be detectable: abundance of parasitic-phase sea lampreys and annual mortality of lake trout (Salvelinus namaycush) by 2001, abundance of spawning-phase sea lampreys by 2002, and relative return rates of lake trout and sea lamprey wounding rates on lake trout by 2005. Designing an effective assessment program to quantify the consequences of fishery management actions is a critical, but often overlooked ingredient of sound fisheries management.

  19. Chemical Achievers: The Human Face of the Chemical Sciences (by Mary Ellen Bowden)

    NASA Astrophysics Data System (ADS)

    Kauffman, George B.

    1999-02-01

    Chemical Heritage Foundation: Philadelphia, PA, 1997. viii + 180 pp. 21.6 x 27.8 cm. ISBN 0-941901-15-1. Paper. 20.00 (10.00 for high school teachers who provide documentation). At a 1991 summer workshop sponsored by the Chemical Heritage Foundation and taught by Derek A. Davenport and William B. Jensen, high school and college teachers of introductory chemistry requested a source of pictorial material about famous chemical scientists suitable as a classroom aid. CHF responded by publishing this attractive, inexpensive paperback volume, which reflects the considerable research effort needed to locate appropriate images and to write the biographical essays. Printed on heavy, glossy paper and spiral bound to facilitate conversion to overhead transparencies, it contains 157 images from pictorial collections at CHF and many other institutions on two types of achievers: the historical "greats" most often referred to in introductory courses, and scientists who made contributions in areas of the chemical sciences that are of special relevance to modern life and the career choices students will make. The pictures are intended to provide the "human face" of the book's subtitle- "to point to the human beings who had the insights and made the major advances that [teachers] ask students to master." Thus, for example, Boyle's law becomes less cold and abstract if the student can connect it with the two portraits of the Irish scientist even if his face is topped with a wig. Marie Curie can be seen in the role of wife and mother as well as genius scientist in the photographs of her with her two daughters, one of whom also became a Nobel laureate. And students are reminded of the ubiquity of the contribution of the chemical scientists to all aspects of our everyday life by the stories and pictures of Wallace Hume Carothers' path to nylon, Percy Lavon Julian's work on hormones, and Charles F. Chandler and Rachel Carson's efforts to preserve the environment. In addition to portraits

  20. 33 CFR 3.45-45 - Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit...

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Inspection Zone and Captain of the Port Zone; Marine Safety Unit Duluth. 3.45-45 Section 3.45-45 Navigation..., SECTORS, MARINE INSPECTION ZONES, AND CAPTAIN OF THE PORT ZONES Ninth Coast Guard District § 3.45-45 Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit...

  1. 33 CFR 3.45-45 - Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit...

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... Inspection Zone and Captain of the Port Zone; Marine Safety Unit Duluth. 3.45-45 Section 3.45-45 Navigation..., SECTORS, MARINE INSPECTION ZONES, AND CAPTAIN OF THE PORT ZONES Ninth Coast Guard District § 3.45-45 Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit...

  2. 33 CFR 3.45-45 - Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit...

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... Inspection Zone and Captain of the Port Zone; Marine Safety Unit Duluth. 3.45-45 Section 3.45-45 Navigation..., SECTORS, MARINE INSPECTION ZONES, AND CAPTAIN OF THE PORT ZONES Ninth Coast Guard District § 3.45-45 Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit...

  3. Society Girl, Sob Sister, Journalism Educator: Mary Paxton Keeley, the First Woman Graduate of the School of Journalism at the University of Missouri.

    ERIC Educational Resources Information Center

    Zang, Barbara

    Based on an examination of well-kept primary source material, this paper presents a personal and professional history of Mary Paxton Keeley, the first woman graduate of one of the first journalism schools in the United States, the School of Journalism at the University of Missouri. Starting with her early years, the paper explains that Keeley was…

  4. Shall Our Leadership Preparation Programs Be Focused on Proactive Leadership for Social Justice? A Rejoinder to Jean-Marie, Normore, and Brooks

    ERIC Educational Resources Information Center

    Oplatka, Izhar

    2009-01-01

    A dominant conjecture underlying the literature about leadership for social justice brought up in Jean-Marie, Normore, and Brooks' (2009) paper suggests that leadership preparation programs (LPPs) need to prepare school leaders to promote a broader and deeper understanding of social justice, democracy, and equity, as well as to struggle with forms…

  5. A tribute to Congresswoman Mary Rose Oakar: friend of the elderly, advocate for women, health care reformer, and champion for Cleveland.

    PubMed

    Halamandaris, V J

    1992-07-01

    Striking a balance between sensitive caring and political muscle, between aiding her Ohio constituents and mounting national crusades, Congresswoman Mary Rose Oakar is one of the most active members of the House Aging Committee. Her goals for the future are growing every day.

  6. Novel Bacterial Community Associated with 500-Year-Old Unpreserved Archaeological Wood from King Henry VIII's Tudor Warship the Mary Rose

    PubMed Central

    Watts, Joy E. M.; Jones, Mark

    2012-01-01

    A 500-year-old unpreserved Mary Rose sample, historically containing an iron bolt, was analyzed using enrichment cultures and 16S sequencing. The novel community of bacteria present demonstrates a biological pathway of Fe and S oxidation and a range of acid-generating metabolisms, with implications for preservation and biogeochemical cycling. PMID:23023757

  7. Achieving Long-Term Protection of Water Quality of Grand Lake St. Marys Through Implementation of Conservation Practices and Control of Phosphorus Input from Agricultural Drainage

    EPA Science Inventory

    Grand Lake St. Marys (GLSM), a 13,000 acre lake in northwestern Ohio, is experiencing toxic levels of algal blooms resulting primarily from phosphorus input from agricultural runoff. The algal blooms are so severe that the Ohio Department of Natural Resources advised against any...

  8. Comparison of Data on Iota Boötes Using Different Telescope Mounts in 2009 and 2010 by the St. Mary's School Astronomy Club

    NASA Astrophysics Data System (ADS)

    Bensel, Holly Bensel; Gasik, Ryan; Muller, Fred; Oursler, Anne; Oursler, Will; Pahl, Emii; Pahl, Eric; Peard, Nolan; Peccia, Dashton; Robino, Jacob; Robino, Ross; Ruppe, Monika; Schwartz, Peter; Scimeca, David; Thorndike, Trevor

    2012-01-01

    Teachers and students from St. Mary's School in Medford, Oregon attended the 2009 and 2010 Astronomy Research Workshop at Pine Mountain Observatory in Oregon. They compared the accuracy of their double star observations on an Alt-Az and equatorial telescope mount using the star Iota Bootes. Our results showed no significant difference between the use of either mount.

  9. The Ideological Origins of the Women's College: Religion, Class, and Curriculum in the Educational Visions of Catharine Beecher and Mary Lyon

    ERIC Educational Resources Information Center

    Turpin, Andrea L.

    2010-01-01

    Historical scholarship has traditionally focused on the commonalities uniting Catharine Beecher and Mary Lyon, the two leading antebellum women's educational reformers in New England. This essay shifts that focus by contrasting their educational philosophies and exploring the implications their differences had for the development of American…

  10. 33 CFR 3.45-45 - Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit...

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 33 Navigation and Navigable Waters 1 2013-07-01 2013-07-01 false Sector Sault Ste. Marie Marine Inspection Zone and Captain of the Port Zone; Marine Safety Unit Duluth. 3.45-45 Section 3.45-45 Navigation..., SECTORS, MARINE INSPECTION ZONES, AND CAPTAIN OF THE PORT ZONES Ninth Coast Guard District §...

  11. Deep Long-period Seismicity Beneath the Executive Committee Range, Marie Byrd Land, Antarctica, Studied Using Subspace Detection

    NASA Astrophysics Data System (ADS)

    Aster, R. C.; McMahon, N. D.; Myers, E. K.; Lough, A. C.

    2015-12-01

    Lough et al. (2014) first detected deep sub-icecap magmatic events beneath the Executive Committee Range volcanoes of Marie Byrd Land. Here, we extend the identification and analysis of these events in space and time utilizing subspace detection. Subspace detectors provide a highly effective methodology for studying events within seismic swarms that have similar moment tensor and Green's function characteristics and are particularly effective for identifying low signal-to-noise events. Marie Byrd Land (MBL) is an extremely remote continental region that is nearly completely covered by the West Antarctic Ice Sheet (WAIS). The southern extent of Marie Byrd Land lies within the West Antarctic Rift System (WARS), which includes the volcanic Executive Committee Range (ECR). The ECR shows north-to-south progression of volcanism across the WARS during the Holocene. In 2013, the POLENET/ANET seismic data identified two swarms of seismic activity in 2010 and 2011. These events have been interpreted as deep, long-period (DLP) earthquakes based on depth (25-40 km) and low frequency content. The DLP events in MBL lie beneath an inferred sub-WAIS volcanic edifice imaged with ice penetrating radar and have been interpreted as a present location of magmatic intrusion. The magmatic swarm activity in MBL provides a promising target for advanced subspace detection and temporal, spatial, and event size analysis of an extensive deep long period earthquake swarm using a remote seismographic network. We utilized a catalog of 1,370 traditionally identified DLP events to construct subspace detectors for the six nearest stations and analyzed two years of data spanning 2010-2011. Association of these detections into events resulted in an approximate ten-fold increase in number of locatable earthquakes. In addition to the two previously identified swarms during early 2010 and early 2011, we find sustained activity throughout the two years of study that includes several previously

  12. Cooling history of the northern Ford Ranges, Marie Byrd Land, West Antarctica

    NASA Astrophysics Data System (ADS)

    Richard, S. M.; Smith, C. H.; Kimbrough, D. L.; Fitzgerald, P. G.; Luyendyk, B. P.; McWilliams, M. O.

    1994-08-01

    Thermochronologic data from the Fosdick, Phillips and Chester mountains of Marie Byrd Land, West Antarctica, have been obtained through U-Pb analysis of monazite, 40Ar/39Ar analysis of hornblende, muscovite, biotite and K-feldspar, and apatite fission track methods. These data were collected to test the hypothesis that high-grade metamorphic rocks in the Fosdick Mountains occupy the footwall of a Cordilleran-style metamorphic core complex, exhumed during the breakup of this sector of Gondwana in early Late Cretaceous time. High-grade metamorphism of rocks exposed in the Fosdick Mountains was followed by rapid cooling starting at ˜105 Ma, during the transition from convergence to extension in the adjacent continental margin of Gondwana. Monazite, hornblende, muscovite, biotite, and K-feldspar from the Fosdick Mountains record rapid cooling (70±30°C/m.y.) from peak metamorphic conditions of 725°-780°C at 4.3-5.6 kbar to below 165°C between 105 and 94 Ma. Subsequent slow cooling was apparently punctuated by a short period of accelerated cooling through the apatite partial annealing zone (˜110°-60°C) between ˜80 and 75 Ma. Cooling rates decreased to an average of ˜l°C/m.y. after 70 Ma. Cooling ages become progressively older to the south; metamorphic grade decreases in concert with the increasing cooling ages. The southernmost samples, from the Chester Mountains, probably cooled to below K-feldspar closure temperature (˜165°C) before inferred reheating associated with metamorphism in the Fosdick Mountains. North of the Fosdick Mountains, Devonian Ford granodiorite in the Phillips Mountains was below K-feldspar closure temperature by early Cretaceous time. Byrd Coast granite intrusions in the eastern Phillips Mountains and east of the Fosdick and Chester mountains were emplaced between 100 and 105 Ma, and these plutons cooled very rapidly (>100°C/m.y.) to below biotite closure temperature, consistent with their epizonal character. The relationship of

  13. Reduction of colonic inflammation in HLA-B27 transgenic rats by feeding Marie Ménard apples, rich in polyphenols.

    PubMed

    Castagnini, Cinzia; Luceri, Cristina; Toti, Simona; Bigagli, Elisabetta; Caderni, Giovanna; Femia, Angelo P; Giovannelli, Lisa; Lodovici, Maura; Pitozzi, Vanessa; Salvadori, Maddalena; Messerini, Luca; Martin, Rocio; Zoetendal, Erwin G; Gaj, Stan; Eijssen, Lars; Evelo, Chris T; Renard, Catherine M G C; Baron, Alain; Dolara, Piero

    2009-12-01

    Inflammatory bowel diseases (IBD) are immunomediated ailments affecting millions of individuals. Although diet is regarded as an important factor influencing IBD, there are no accepted dietary recommendations presently available. We administered 7.6 % lyophilised apples obtained from two cultivars (Golden Delicious and Marie Ménard, low and high in polyphenols, respectively) to HLA-B27 transgenic rats which develop spontaneous IBD. After 3 months feeding, rats fed Marie Ménard apples had reduced myeloperoxidase activity (3.6 (sem 0.3) v. 2.2 (sem 0.2) U/g tissue; P < 0.05) and reduced cyclo-oxygenase-2 (P < 0.05) and inducible NO synthase gene expression (P < 0.01) in the colon mucosa and significantly less diarrhoea (P < 0.05), compared with control rats. Cell proliferation in the colon mucosa was reduced significantly by feeding Golden Delicious apples, with a borderline effect of Marie Ménard apples. Gene expression profiling of the colon mucosa, analysed using the Whole Rat Genome 4 x 44 K Agilent Arrays, revealed a down-regulation of the pathways of PG synthesis, mitogen-activated protein kinase (MAPK) signalling and TNFalpha-NF-kappaB in Marie Ménard-fed rats. In the stools of the animals of this group we also measured a significant reduction of bacteria of the Bacteriodes fragilis group. In conclusion, the administration of Marie Ménard apples, rich in polyphenols and used at present only in the manufacturing of cider, ameliorates colon inflammation in transgenic rats developing spontaneous intestinal inflammation, suggesting the possible use of these and other apple varieties to control inflammation in IBD patients.

  14. The Effects of Mary Rose Conservation Treatment on Iron Oxidation Processes and Microbial Communities Contributing to Acid Production in Marine Archaeological Timbers

    PubMed Central

    Preston, Joanne; Smith, Andrew D.; Schofield, Eleanor J.; Chadwick, Alan V.; Jones, Mark A.; Watts, Joy E. M.

    2014-01-01

    The Tudor warship the Mary Rose has reached an important transition point in her conservation. The 19 year long process of spraying with polyethylene glycol (PEG) has been completed (April 29th 2013) and the hull is air drying under tightly controlled conditions. Acidophilic bacteria capable of oxidising iron and sulfur have been previously identified and enriched from unpreserved timbers of the Mary Rose, demonstrating that biological pathways of iron and sulfur oxidization existed potentially in this wood, before preservation with PEG. This study was designed to establish if the recycled PEG spray system was a reservoir of microorganisms capable of iron and sulfur oxidization during preservation of the Mary Rose. Microbial enrichments derived from PEG impregnated biofilm collected from underneath the Mary Rose hull, were examined to better understand the processes of cycling of iron. X-ray absorption spectroscopy was utilised to demonstrate the biological contribution to production of sulfuric acid in the wood. Using molecular microbiological techniques to examine these enrichment cultures, PEG was found to mediate a shift in the microbial community from a co-culture of Stenotrophomonas and Brevunidimonas sp, to a co-culture of Stenotrophomonas and the iron oxidising Alicyclobacillus sp. Evidence is presented that PEG is not an inert substance in relation to the redox cycling of iron. This is the first demonstration that solutions of PEG used in the conservation of the Mary Rose are promoting the oxidation of ferrous iron in acidic solutions, in which spontaneous abiotic oxidation does not occur in water. Critically, these results suggest PEG mediated redox cycling of iron between valence states in solutions of 75% PEG 200 and 50% PEG 2000 (v/v) at pH 3.0, with serious implications for the future use of PEG as a conservation material of iron rich wooden archaeological artefacts. PMID:24586230

  15. [Current Status of Genetic Diagnosis of Charcot-Marie-Tooth Disease: Variety of the Disease-causing Genes].

    PubMed

    Hashiguchi, Akihiro; Higuchi, Yujiro; Takashima, Hiroshi

    2016-01-01

    At least 40 genes have been associated with Charcot-Marie-Tooth disease (CMT) and the related inherited neuropathies. Genetic studies have revealed the following factors as causes of inherited neuropathies: myelin components, transcription factors for myelination, myelin maintenance systems, differentiation factors of the peripheral nerve, neurofilaments, protein transfer systems, mitochondrial proteins, DNA repair, RNA/protein synthesis, ion channels, and aminoacyl-tRNA synthetases. Since 2007, we have tried to screen for mutations in CMT patients using microarrays or next generation sequencers. As a result, the detection rate of gene mutations has improved to about 25%. In this study, we applied target resequencing to 72 genes. From the negative examples, we identified the cases based on clinical course, family history, and electrophysiological findings, and then performed exome analysis. We then tried to identify novel causative genes by analyzing the enormous data obtained from our exome analysis.

  16. New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.

    PubMed

    Berciano, José; Gallardo, Elena; García, Antonio; Pelayo-Negro, Ana L; Infante, Jon; Combarros, Onofre

    2011-09-01

    Forefoot pes cavus is a cardinal sign of Charcot-Marie-Tooth disease (CMT). This review is focused on the pathophysiology of pes cavus in CMT1A duplication, which is the most common subtype of the disease. Assessment of foot deformities in CMT1A, their prevalence and proposed mechanisms, and recent contributions of magnetic resonance imaging studies of lower-leg and foot musculature are revised. Special attention is given to papers on foot deformities at initial stages of the disease. We conclude that pes cavus is an early and age-dependent manifestation of CMT1A duplication. Selective denervation of intrinsic foot musculature, particularly of the lumbricals, and not imbalance of lower-leg muscles, seems to be the initial mechanism causing reduced ankle flexibility and forefoot cavus deformity.

  17. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

    SciTech Connect

    Ionasescu, V.; Ionasescu, R.; Searby, C.

    1996-06-14

    We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense mutations, two medium size deletions, and one insertion. Most missense mutations showed a mild clinical phenotype (five out of eight), whereas all nonsense mutations, the larger of the two deletions, and the insertion that produced frameshifts showed severe phenotypes. Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region. Three of these families showed positive genetic linkage with the markers of the Xq13.1 region. The genetic linkage of the remaining two families could not be evaluated because of their small size. 25 refs., 1 fig., 1 tab.

  18. Average symbol error rate for M-ary quadrature amplitude modulation in generalized atmospheric turbulence and misalignment errors

    NASA Astrophysics Data System (ADS)

    Sharma, Prabhat Kumar

    2016-11-01

    A framework is presented for the analysis of average symbol error rate (SER) for M-ary quadrature amplitude modulation in a free-space optical communication system. The standard probability density function (PDF)-based approach is extended to evaluate the average SER by representing the Q-function through its Meijer's G-function equivalent. Specifically, a converging power series expression for the average SER is derived considering the zero-boresight misalignment errors in the receiver side. The analysis presented here assumes a unified expression for the PDF of channel coefficient which incorporates the M-distributed atmospheric turbulence and Rayleigh-distributed radial displacement for the misalignment errors. The analytical results are compared with the results obtained using Q-function approximation. Further, the presented results are supported by the Monte Carlo simulations.

  19. Louis Nico Marie Duysens (March 15, 1921-September 8, 2015): a leading biophysicist of the 20th century.

    PubMed

    Govindjee; Pulles, M P J

    2016-06-01

    Louis Nico Marie (L. N. M.) Duijsens (Duysens) was one of the giants in the biophysics of photosynthesis. His PhD thesis "Transfer of Excitation Energy in Photosynthesis" (Duysens, 1952) is a classic; he introduced light-induced absorption difference spectroscopy to photosynthesis research and proved the existence of reaction centers, introducing advanced methods from physics to understand biological processes. Further, it is his 1959-1961 seminal work, with Jan Amesz, that provided evidence for the existence of the series scheme for the two light reactions in oxygenic photosynthesis. In one word, he was one of the master biophysicists of the 20th century-who provided direct measurements on many key intermediates, and made us understand the intricacies of photosynthesis with a simplicity that no one else ever did. We present here our personal perspective of the scientist that Lou Duysens was. For an earlier perspective, see van Grondelle and van Gorkom (Photosynth Res 120: 3-7, 2014).

  20. Science, suffrage, and experimentation: Mary Putnam Jacobi and the controversy over vivisection in late nineteenth-century America.

    PubMed

    Bittel, Carla Jean

    2005-01-01

    This article examines the medical activism of the New York physician Mary Putnam Jacobi (1842-1906), to illustrate the problems of gender and science at the center of the vivisection debate in late nineteenth-century America. In the post-Civil War era, individuals both inside and outside the medical community considered vivisection to be a controversial practice. Physicians divided over the value of live animal experimentation, while reformers and activists campaigned against it. Jacobi stepped into the center of the controversy and tried to use her public defense of experimentation to the advantage of women in the medical profession. Her advocacy of vivisection was part of her broader effort to reform medical education, especially at women's institutions. It was also a political strategy aimed at associating women with scientific practices to advance a women's rights agenda. Her work demonstrates how debates over women in medicine and science in medicine, suffrage, and experimentation overlapped at a critical moment of historical transition.

  1. Redefining the Poet as Healer: Valerie Gillies's Collaborative Role in the Edinburgh Marie Curie Hospice Quiet Room Project.

    PubMed

    Severin, Laura

    2015-01-01

    This article examines the poetic contribution of Valerie Gillies, Edinburgh Makar (or poet of the city) from 2005-2008, to the Edinburgh Marie Curie Hospice Quiet Room, a new contemplation space for patients, families, and staff. In collaboration with others, Gillies created a transitional space for the Quiet Room, centered on the display of her sonnet, "A Place Apart." This space functions to comfort visitors to the Quiet Room by relocating them in their surroundings and offering the solace provided by nature and history. With this project, her first as Edinburgh Makar, Gillies redefines the role of the poet as healer and advocates for newer forms of palliative care that focus on patients' spiritual and emotional, as well as physical, wellbeing.

  2. M-ary frequency shift keying with differential phase detector in satellite mobile channel with narrowband receiver filter

    NASA Astrophysics Data System (ADS)

    Korn, I.; Namet, M.

    1990-02-01

    An expression is derived for the error probability of M-ary frequency-shift keying with differential phase detector and narrow-band receiver filter in the satellite mobile (Rician) channel, which includes as special cases the Gaussian and land mobile (Rayleigh) channels. The error probability is computed as a function of various system parameters for M = 2, 4, and 8 symbols and the third-order Butterworth receiver filter. The error probability increases with Doppler frequency and with the shift of the channel from Gaussian through Rician to Rayleigh. The optimum normalized bandwidth per bit is in the vicinity of one, and the optimum modulation index for binary symbols is about 0.6. The threshold for quaternary symbols can be optimized to about 0.9 of the modulation index. For Rician and Rayleigh channels with nonzero Doppler frequency, there is an error floor; therefore, diversity or coding may be required to achieve a desired error probability.

  3. Analysis of the benefits of vitamin cocktails in treating Charcot-Marie-Tooth disease type 1A.

    PubMed

    Kaya, Ferdinand; Belin, Sophie; Micallef, Joelle; Blin, Olivier; Fontés, Michel

    2008-08-01

    We recently proposed that the use of high doses of ascorbic acid (AA) could constitute the first potential treatment for Charcot-Marie-Tooth disease type 1A (CMT1A).4 We investigated the potential benefits of using cocktails of vitamins for CMT1A therapy. We used transient transfection of Schwann cells with a construction placing the expression of a reporter gene under the control of the Schwann cell-specific promoter of PMP22. Transfected cells were cultured with or without addition of ascorbic acid, vitamin A, vitamin E, or a cocktail of these vitamins. Adding vitamin A or E counteracts the effect of ascorbic acid in inhibiting PMP22 expression. We thus recommend that vitamins A and E should not be included in combination with AA in clinical trials.

  4. Women's translations of scientific texts in the 18th century: a case study of Marie-Anne Lavoisier.

    PubMed

    Kawashima, Keiko

    2011-01-01

    In the 18th century, many outstanding translations of scientific texts were done by women. These women were important mediators of science. However, I would like to raise the issue that the 'selection,' which is the process by which intellectual women chose to conduct translation works, and those 'selections' made by male translators, would not be made at the same level. For example, Émilie du Châtelet (1706-1749), the only French translator of Newton's "Principia," admitted her role as participating in important work, but, still, she was not perfectly satisfied with the position. For du Châtelet, the role as a translator was only an option under the current conditions that a female was denied the right to be a creator by society. In the case of Marie-Anne Lavoisier (1743-1794), like du Châtelet, we find an acute feeling in her mind that translation was not the work of creators. Because of her respect toward creative geniuses and her knowledge about the practical situation and concrete results of scientific studies, the translation works done by Marie-Anne Lavoisier were excellent. At the same time, the source of this excellence appears paradoxical at a glance: this excellence of translation was related closely with her low self-estimation in the field of science. Hence, we should not forget the gender problem that is behind such translations of scientific works done by women in that era. Such a possibility was a ray of light that was grasped by females, the sign of a gender that was eliminated from the center of scientific study due to social systems and norms and one of the few valuable opportunities to let people know of her own existence in the field of science.

  5. A Novel N-Acetylglutamate Synthase Architecture Revealed by the Crystal Structure of the Bifunctional Enzyme from Maricaulis maris

    PubMed Central

    Shi, Dashuang; Li, Yongdong; Cabrera-Luque, Juan; Jin, Zhongmin; Yu, Xiaolin; Zhao, Gengxiang; Haskins, Nantaporn; Allewell, Norma M.; Tuchman, Mendel

    2011-01-01

    Novel bifunctional N-acetylglutamate synthase/kinases (NAGS/K) that catalyze the first two steps of arginine biosynthesis and are homologous to vertebrate N-acetylglutamate synthase (NAGS), an essential cofactor-producing enzyme in the urea cycle, were identified in Maricaulis maris and several other bacteria. Arginine is an allosteric inhibitor of NAGS but not NAGK activity. The crystal structure of M. maris NAGS/K (mmNAGS/K) at 2.7 Å resolution indicates that it is a tetramer, in contrast to the hexameric structure of Neisseria gonorrhoeae NAGS. The quaternary structure of crystalline NAGS/K from Xanthomonas campestris (xcNAGS/K) is similar, and cross-linking experiments indicate that both mmNAGS/K and xcNAGS are tetramers in solution. Each subunit has an amino acid kinase (AAK) domain, which is likely responsible for N-acetylglutamate kinase (NAGK) activity and has a putative arginine binding site, and an N-acetyltransferase (NAT) domain that contains the putative NAGS active site. These structures and sequence comparisons suggest that the linker residue 291 may determine whether arginine acts as an allosteric inhibitor or activator in homologous enzymes in microorganisms and vertebrates. In addition, the angle of rotation between AAK and NAT domains varies among crystal forms and subunits within the tetramer. A rotation of 26° is sufficient to close the predicted AcCoA binding site, thus reducing enzymatic activity. Since mmNAGS/K has the highest degree of sequence homology to vertebrate NAGS of NAGS and NAGK enzymes whose structures have been determined, the mmNAGS/K structure was used to develop a structural model of human NAGS that is fully consistent with the functional effects of the 14 missense mutations that were identified in NAGS-deficient patients. PMID:22174908

  6. A Novel N-Acetylglutamate Synthase Architecture Revealed by the Crystal Structure of the Bifunctional Enzyme from Maricaulis maris

    SciTech Connect

    Shi, Dashuang; Li, Yongdong; Cabrera-Luque, Juan; Jin, Zhongmin; Yu, Xiaolin; Zhao, Gengxiang; Haskins, Nantaporn; Allewell, Norma M.; Tuchman, Mendel

    2012-05-24

    Novel bifunctional N-acetylglutamate synthase/kinases (NAGS/K) that catalyze the first two steps of arginine biosynthesis and are homologous to vertebrate N-acetylglutamate synthase (NAGS), an essential cofactor-producing enzyme in the urea cycle, were identified in Maricaulis maris and several other bacteria. Arginine is an allosteric inhibitor of NAGS but not NAGK activity. The crystal structure of M. maris NAGS/K (mmNAGS/K) at 2.7 {angstrom} resolution indicates that it is a tetramer, in contrast to the hexameric structure of Neisseria gonorrhoeae NAGS. The quaternary structure of crystalline NAGS/K from Xanthomonas campestris (xcNAGS/K) is similar, and cross-linking experiments indicate that both mmNAGS/K and xcNAGS are tetramers in solution. Each subunit has an amino acid kinase (AAK) domain, which is likely responsible for N-acetylglutamate kinase (NAGK) activity and has a putative arginine binding site, and an N-acetyltransferase (NAT) domain that contains the putative NAGS active site. These structures and sequence comparisons suggest that the linker residue 291 may determine whether arginine acts as an allosteric inhibitor or activator in homologous enzymes in microorganisms and vertebrates. In addition, the angle of rotation between AAK and NAT domains varies among crystal forms and subunits within the tetramer. A rotation of 26{sup o} is sufficient to close the predicted AcCoA binding site, thus reducing enzymatic activity. Since mmNAGS/K has the highest degree of sequence homology to vertebrate NAGS of NAGS and NAGK enzymes whose structures have been determined, the mmNAGS/K structure was used to develop a structural model of human NAGS that is fully consistent with the functional effects of the 14 missense mutations that were identified in NAGS-deficient patients.

  7. The association between periodontal disease and periosteal lesions in the St. Mary Graces cemetery, London, England A.D. 1350-1538.

    PubMed

    Dewitte, Sharon N; Bekvalac, Jelena

    2011-12-01

    Numerous studies have demonstrated significant associations between periodontal disease and many other diseases in living populations, and some studies have shown that individuals with periodontal disease are at elevated risks of mortality. Recent analysis of a medieval skeletal sample from London has also shown that periodontal disease was associated with increased risks of mortality in the past. This study examines whether periodontal disease is associated with periosteal lesions in a skeletal sample from the urban St. Mary Graces cemetery (n = 265) from medieval London. The results reveal a significant association between periodontal disease and periosteal lesions in the St. Mary Graces sample (i.e., individuals with periodontal disease were also likely to have periosteal lesions), and the association between the two is independent of age. The association between the two pathological conditions might reflect underlying reduced immune competence and thus heightened susceptibility to pathogens that cause periodontal disease or periosteal lesions, exposure to an environmental factor, or underlying heightened inflammatory responses.

  8. Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.

    PubMed

    Ghosh, Partha S; Friedman, Neil R; Ghosh, Debabrata

    2012-12-01

    Pitt-Hopkins syndrome is characterized by marked intellectual impairment, hyperventilation episodes, and dysmorphic facial features. This article reports a boy who presented with developmental delay, facial dysmorphism, microcephaly, hypotonia, and areflexia. He was initially diagnosed with Charcot Marie Tooth disease type 1A based on family history and genetic testing. However, severe mental impairment was atypical of Charcot Marie Tooth disease type 1A. Over the next few years he developed characteristic breathing abnormality, hand stereotypies, seizures, and marked constipation. The evolution of these manifestations coupled with the characteristic facial appearance suggested the additional diagnosis of Pitt-Hopkins syndrome, which was confirmed by the genetic defect of the transcription factor 4 on chromosome 18. This case demonstrates the rare co-occurrence of 2 genetic disorders in the same individual.

  9. [The chemical entries of Charles Gerhardt in Dictionnaire universel des Sciences, des Lettres et des Arts by Marie-Nicolas Bouillet].

    PubMed

    Fournier, Josette

    2004-01-01

    Charles Gerhardt (1816-1856) is known as the founder of modern organic chemistry. He wrote the chemical entries of the dictionary managed by Marie-Nicolas Bouillet (1798-1864), who was a philosopher. This great deal of work was done between 1849 and 1853. It accounts for didactic and militant purposes of Gerhardt. The whole entries set up a true treatise of chemistry, and reflect the synthetic mind of their author.

  10. Environmental Baseline Studies of St. Marys River Near Neebish Island, Michigan, Prior to Proposed Extension of Navigation Season, 1981. Great Lakes- St. Lawrence Seaway, Navigation Season Extension Program

    DTIC Science & Technology

    1983-06-01

    to Lake Huron at Detour, Michigan (Figure 1). From its headwaters to Lake Huron the St. Marys River descends approximately 6.7 m (22’). Most of this...conditions at both the Middle Neebish Channel and at a proposed dredge spoil disposal site in Lake Huron . Extensive background data on physical/chemical...Alosa pseudoharengus Alewife Salmonidae Salmons, trouts, whitefishes Coregonus artedii Cisco Coregonus clupeaformis Lake whitefish Osmeridae Smelts

  11. Supplementary Environmental Baseline Studies and Evaluation of the St. Mary’s River 1980. Great Lakes-St. Lawrence Seaway Navigation Season Extension Program

    DTIC Science & Technology

    1981-07-01

    120.7 km (75 mi) from headwaters in Whitefish Bay, Lake Superior to Lake Huron at Detour, Michigan (Figure 1). From its headwaters to Lake Huron the...dredged material would be barged down river and disposed of in Lake Huron , about 4 km (2.5 mi) south of Detour Passage. Michigan State University...conditions at both the Middle Neebish Chdnnel, St. Marys River, and the proposed dredge spoil disposal site in Lake Huron . Extensive background data

  12. Introduction to the EC’s Marie Curie Initial Training Network Project: The European Training Network in Digital Medical Imaging for Radiotherapy (ENTERVISION)

    PubMed Central

    Dosanjh, Manjit; Cirilli, Manuela; Navin, Sparsh

    2015-01-01

    Between 2011 and 2015, the ENTERVISION Marie Curie Initial Training Network has been training 15 young researchers from a variety of backgrounds on topics ranging from in-beam Positron Emission Tomography or Single Particle Tomography techniques, to adaptive treatment planning, optical imaging, Monte Carlo simulations and biological phantom design. This article covers the main research activities, as well as the training scheme implemented by the participating institutes, which included academia, research, and industry. PMID:26697403

  13. Introduction to the EC's Marie Curie Initial Training Network Project: The European Training Network in Digital Medical Imaging for Radiotherapy (ENTERVISION).

    PubMed

    Dosanjh, Manjit; Cirilli, Manuela; Navin, Sparsh

    2015-01-01

    Between 2011 and 2015, the ENTERVISION Marie Curie Initial Training Network has been training 15 young researchers from a variety of backgrounds on topics ranging from in-beam Positron Emission Tomography or Single Particle Tomography techniques, to adaptive treatment planning, optical imaging, Monte Carlo simulations and biological phantom design. This article covers the main research activities, as well as the training scheme implemented by the participating institutes, which included academia, research, and industry.

  14. MaRIE 1.0: A briefing to Katherine Richardson-McDaniel, Staff Member for U. S. Senator Martin Heinrich (D-NM)

    SciTech Connect

    Barnes, Cris William

    2015-02-24

    At the request of Katherine Richardson-McDaniel, Staff Member to U.S. Senator Martin Heinrich (D-NM), a high-level briefing was requested about MaRIE 1.0, the Matter-Radiation Interactions in Extremes effort at Los Alamos National Laboratory. What it would be, the mission need motivation, the scientific challenge, and the current favorable impact on both programs and people are shown in viewgraph form.

  15. IsoNose - Isotopic Tools as Novel Sensors of Earth Surfaces Resources - A new Marie Curie Initial Training Network

    NASA Astrophysics Data System (ADS)

    von Blanckenburg, Friedhelm; Bouchez, Julien; Bouman, Caludia; Kamber, Balz; Gaillardet, Jérôme; Gorbushina, Anna; James, Rachael; Oelkers, Eric; Tesmer, Maja; Ashton, John

    2015-04-01

    The Marie Curie Initial Training Network »Isotopic Tools as Novel Sensors of Earth Surfaces Resources - IsoNose« is an alliance of eight international partners and five associated partners from science and industry. The project is coordinated at the Helmholtz Centre Potsdam GFZ German Research Centre for Geosciences and will run until February 2018. In the last 15 years advances in novel mass-spectrometric methods have opened opportunities to identify "isotopic fingerprints" of virtually all metals and to make use of the complete information contained in these fingerprints. The understanding developed with these new tools will ultimately guide the exploitation of Earth surface environments. However, progress in bringing these methods to end-users depends on a multi transfer of knowledge between (1) isotope Geochemistry and Microbiology, Environmental Sciences (2), Economic Geology and (3) instrument developers and users in the development of user-friendly and new mass spectrometric methods. IsoNose will focus on three major Earth surface resources: soil, water and metals. These resources are currently being exploited to an unprecedented extent and their efficient management is essential for future sustainable development. Novel stable isotope techniques will disclose the processes generating (e.g. weathering, mineral ore formation) and destroying (e.g. erosion, pollution) these resources. Within this field the following questions will be addressed and answered: - How do novel stable isotope signatures characterize weathering processes? - How do novel stable isotope signatures trace water transport? - How to use novel stable isotope as environmental tracers? - How to use novel stable isotope for detecting and exploring metal ores? - How to improve analytical capabilities and develop robust routine applications for novel stable isotopes? Starting from the central questions mentioned above the IsoNose activities are organized in five scientific work packages: 1

  16. Long-Term Results of Reconstruction for Treatment of a Flexible Cavovarus Foot in Charcot-Marie-Tooth Disease

    PubMed Central

    Ward, Christina M.; Dolan, Lori A.; Bennett, D. Lee; Morcuende, Jose A.; Cooper, Reginald R.

    2008-01-01

    Background: Cavovarus foot deformity is common in patients with Charcot-Marie-Tooth disease. Multiple surgical reconstructive procedures have been described, but few authors have reported long-term results. The purpose of this study was to evaluate the long-term results of an algorithmic approach to reconstruction for the treatment of a cavovarus foot in these patients. Methods: We evaluated twenty-five consecutive patients with Charcot-Marie-Tooth disease and cavovarus foot deformity (forty-one feet) who had undergone, between 1970 and 1994, a reconstruction consisting of dorsiflexion osteotomy of the first metatarsal, transfer of the peroneus longus to the peroneus brevis, plantar fascia release, transfer of the extensor hallucis longus to the neck of the first metatarsal, and in selected cases transfer of the tibialis anterior tendon to the lateral cuneiform. Each patient completed standardized outcome questionnaires (the Short Form-36 [SF-36] and Foot Function Index [FFI]). Radiographs were evaluated to assess alignment and degenerative arthritis, and gait analysis was performed. The mean age at the time of follow-up was 41.5 years, and the mean duration of follow-up was 26.1 years. Results: Correction of the cavus deformity was well maintained, although most patients had some recurrence of hindfoot varus as seen on radiographic examination. The patients had a lower mean SF-36 physical component score than age-matched norms, and the women had a lower mean SF-36 physical component score than the men, although this difference was not significant. Smokers had lower mean SF-36 scores and significantly higher mean FFI pain, disability, and activity limitation subscores (p < 0.0001). Seven patients (eight feet) underwent a total of eleven subsequent foot or ankle operations, but no patient required a triple arthrodesis. Moderate-to-severe osteoarthritis was observed in eleven feet. With the numbers studied, the age at surgery, age at the time of follow-up, and body

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

    PubMed

    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.

  18. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

    PubMed

    Lupo, Vincenzo; García-García, Francisco; Sancho, Paula; Tello, Cristina; García-Romero, Mar; Villarreal, Liliana; Alberti, Antonia; Sivera, Rafael; Dopazo, Joaquín; Pascual-Pascual, Samuel I; Márquez-Infante, Celedonio; Casasnovas, Carlos; Sevilla, Teresa; Espinós, Carmen

    2016-03-01

    Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor neuropathy. We validated this diagnostic tool by first testing 11 patients with pathological mutations. A cohort of 33 affected subjects was selected for this study. The DNAJB2 c.352+1G>A mutation was detected in two cases; novel changes and/or variants with low frequency (<1%) were found in 12 cases. There were no candidate variants in 18 cases, and amplification failed for one sample. The DNAJB2 c.352+1G>A mutation was also detected in three additional families. On haplotype analysis, all of the patients from these five families shared the same haplotype; therefore, the DNAJB2 c.352+1G>A mutation may be a founder event. Our gene panel allowed us to perform a very rapid and cost-effective screening of genes involved in Charcot-Marie-Tooth disease/hereditary motor neuropathy. Our diagnostic strategy was robust in terms of both coverage and read depth for all of the genes and patient samples. These findings demonstrate the difficulty in achieving a definitive molecular diagnosis because of the complexity of interpreting new variants and the genetic heterogeneity that is associated with these neuropathies.

  19. Methods and Basic Data from Mass-Loading Studies in American Fork, October 1999, and Mary Ellen Gulch, Utah, September 2000

    USGS Publications Warehouse

    Kimball, Briant A.; Runkel, Robert L.; Gerner, Linda J.

    2009-01-01

    Land-management agencies are faced with decisions about remediation in streams affected by mine drainage. In support of the U. S. Forest Service, for the Uinta National Forest, the U.S. Geological Survey conducted mass-loading studies in American Fork and Mary Ellen Gulch, Utah. Synoptic samples were collected along a 10,000-meter study reach in American Fork and 4,500-meter reach in Mary Ellen Gulch. Tracer-injection methods were combined with synoptic sampling methods to evaluate discharge and mass loading. This data-series report gives the results of the chemical analyses of these samples and provides the equations used to calculate discharge from tracer concentrations and loads from discharge and concentrations of the constituents. The detailed information from these studies will facilitate the preparation of interpretive reports and discussions with stakeholder groups. Data presented include detailed locations of the sampling sites, results of chemical analyses, and graphs of mass-loading profiles for major and trace elements in American Fork and Mary Ellen Gulch. Ultrafiltration was used to define filtered concentrations and total-recoverable concentrations were measured on unfiltered samples.

  20. Facing the Future: Sharing Habitats with Wildlife; A Civic Engagement Partnership between St. Mary's College and Lindsay Wildlife Museum through SENCER-ISE

    NASA Astrophysics Data System (ADS)

    Baldridge, A. M.; Bachofer, S.; Pan, W.

    2014-12-01

    The phrase "Enter to Learn, Leave to Serve " is at the heart of St Mary's College of California's education philosophy. The community engagement requirement of the core curriculum requires that students leave the classroom and engage with the world "to apply their intellectual experiences to communities beyond [the campus]". St. Mary's College actively participates with SENCER-ISE (Science Education for New Civic Engagements and Responsibilities-Informal Science Education), a National Science Foundation program developed to inspire more community engagement science projects in higher education to make science more real, accessible and civically important. Through this program, St. Mary's College and Lindsay Wildlife Museum have developed the project "Facing the Future: Sharing Habitats with Wildlife", which explores issues of urban habitats - their ephemerality, and the need for citizens to share responsibility and promote their success. The institutions are (1) studying a San Francisco Bay Area watershed habitat; (2) designing data collection methods, (GIS mapping and mobile app creation) intended to educate children and adults on urban habitats and the need to protect them; and (3) preparing interpretive materials to raise awareness of habitat issues. Here we report on the impact of this work, which is in the first year of a three-year grant and how a durable partnership can be established.

  1. Tradeoff between assessment and control of aquatic invasive species: A case study of sea lamprey management in the St. Marys River

    USGS Publications Warehouse

    Robinson, Jason M.; Wilberg, Michael J.; Adams, Jean V.; Jones, Michael L.

    2016-01-01

    Allocating resources between the gathering of information to guide management actions and implementing those actions presents an inherent tradeoff. This tradeoff is evident for control of the Sea Lamprey Petromyzon marinus in the St. Marys River, connecting Lakes Huron and Superior and a major source of parasitic Sea Lampreys to Lake Huron and northern Lake Michigan. Larval Sea Lampreys in the St. Marys River are controlled through the application of Bayluscide, which is applied to areas of high larval density. Bayluscide applications are guided with an annual deepwater electrofishing survey to estimate larval Sea Lamprey density at relatively fine spatial scales. We took a resampling approach to describe the effect of sampling intensity on the success of the larval Sea Lamprey management program and explicitly incorporated the economic tradeoff between assessment and control efforts to maximize numbers of larvae killed in the St. Marys River. When no tradeoff between assessment and control was incorporated, increasing assessment always led to more larvae killed for the same treatment budget. When the tradeoff was incorporated, the sampling intensity that maximized the number of larvae killed depended on the overall budget available. Increased sampling intensities maximized effectiveness under medium to large budgets (US \\$0.4 to \\$2.0 million), and intermediate sampling intensities maximized effectiveness under low budgets. Sea Lamprey control actions based on assessment information outperformed those that were implemented with no assessment under all budget scenarios.

  2. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

    PubMed Central

    Brennan, Kathryn M.; Bai, Yunhong; Pisciotta, Chiara; Wang, Suola; Feely, Shawna M.E.; Hoegger, Mark; Gutmann, Laurie; Moore, Steven A.; Gonzalez, Michael; Sherman, Diane L.; Brophy, Peter J.; Züchner, Stephan; Shy, Michael E.

    2016-01-01

    Using exome sequencing in an individual with Charcot-Marie-Tooth disease (CMT) we have identified a mutation in the X-linked dystrophin-related protein 2 (DRP2) gene. A 60-year-old gentleman presented to our clinic and underwent clinical, electrophysiological and skin biopsy studies. The patient had clinical features of a length dependent sensorimotor neuropathy with an age of onset of 50 years. Neurophysiology revealed prolonged latencies with intermediate conduction velocities but no conduction block or temporal dispersion. A panel of 23 disease causing genes was sequenced and ultimately was uninformative. Whole exome sequencing revealed a stop mutation in DRP2, c.805C>T (Q269*). DRP2 interacts with periaxin and dystroglycan to form the periaxin-DRP2-dystroglycan complex which plays a role in the maintenance of the well-characterized Cajal bands of myelinating Schwann cells. Skin biopsies from our patient revealed a lack of DRP2 in myelinated dermal nerves by immunofluorescence. Furthermore electron microscopy failed to identify Cajal bands in the patient's dermal myelinated axons in keeping with ultrastructural pathology seen in the Drp2 knockout mouse. Both the electrophysiologic and dermal nerve twig pathology support the interpretation that this patient's DRP2 mutation causes characteristic morphological abnormalities recapitulating the Drp2 knockout model and potentially represents a novel genetic cause of CMT. PMID:26227883

  3. DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.

    PubMed

    Hong, Young Bin; Kang, Junghee; Kim, Ji Hyun; Lee, Jinho; Kwak, Geon; Hyun, Young Se; Nam, Soo Hyun; Hong, Hyun Dae; Choi, Yu-Ri; Jung, Sung-Chul; Koo, Heasoo; Lee, Ji Eun; Choi, Byung-Ok; Chung, Ki Wha

    2016-05-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. We examined a Korean family in which two individuals had an autosomal-dominant axonal CMT with early-onset, sensory ataxia, tremor, and slow disease progression. Pedigree analysis and exome sequencing identified a de novo missense mutation (p.Y223H) in the diacylglycerol O-acyltransferase 2 (DGAT2) gene. DGAT2 encodes an endoplasmic reticulum-mitochondrial-associated membrane protein, acyl-CoA:diacylglycerol acyltransferase, which catalyzes the final step of the triglyceride (TG) biosynthesis pathway. The patient showed consistently decreased serum TG levels, and overexpression of the mutant DGAT2 significantly inhibited the proliferation of mouse motor neuron cells. Moreover, the variant form of human DGAT2 inhibited the axonal branching in the peripheral nervous system of zebrafish. We suggest that mutation of DGAT2 is the novel underlying cause of an autosomal-dominant axonal CMT2 neuropathy. This study will help provide a better understanding of the pathophysiology of axonal CMT and contribute to the molecular diagnostics of peripheral neuropathies.

  4. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

    PubMed

    Brennan, Kathryn M; Bai, Yunhong; Pisciotta, Chiara; Wang, Suola; Feely, Shawna M E; Hoegger, Mark; Gutmann, Laurie; Moore, Steven A; Gonzalez, Michael; Sherman, Diane L; Brophy, Peter J; Züchner, Stephan; Shy, Michael E

    2015-10-01

    Using exome sequencing in an individual with Charcot-Marie-Tooth disease (CMT) we have identified a mutation in the X-linked dystrophin-related protein 2 (DRP2) gene. A 60-year-old gentleman presented to our clinic and underwent clinical, electrophysiological and skin biopsy studies. The patient had clinical features of a length dependent sensorimotor neuropathy with an age of onset of 50 years. Neurophysiology revealed prolonged latencies with intermediate conduction velocities but no conduction block or temporal dispersion. A panel of 23 disease causing genes was sequenced and ultimately was uninformative. Whole exome sequencing revealed a stop mutation in DRP2, c.805C>T (Q269*). DRP2 interacts with periaxin and dystroglycan to form the periaxin-DRP2-dystroglycan complex which plays a role in the maintenance of the well-characterized Cajal bands of myelinating Schwann cells. Skin biopsies from our patient revealed a lack of DRP2 in myelinated dermal nerves by immunofluorescence. Furthermore electron microscopy failed to identify Cajal bands in the patient's dermal myelinated axons in keeping with ultrastructural pathology seen in the Drp2 knockout mouse. Both the electrophysiologic and dermal nerve twig pathology support the interpretation that this patient's DRP2 mutation causes characteristic morphological abnormalities recapitulating the Drp2 knockout model and potentially represents a novel genetic cause of CMT.

  5. Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2.

    PubMed

    Garcez, Catarina Andrade; Neves, Eduardo Luis Aquino; Melo, Saulo Maia D''avila; Nunes, Paula Santos; Barreto, Lidiane Carine Lima; Costa, Iandra Maria Pinheiro; Souza, Cynthia Coelho; Rezende, Rejane Lenier; Araújo, Adriano Antunes de Souza

    2015-01-01

    The aim of this study was to evaluate the pulmonary condition in a large family with Charcot-Marie-Tooth disease type 2 (CMT2). Eighteen participants diagnosed with CMT2 and 20 healthy individuals were evaluated by spirometry and maximal expiratory and maximal inspiratory pressures (MEP and MIP, respectively). Clinical disability was measured with CMT neuropathy score (CMTNS; range 0-36). One control group (CG) comprising 20 individuals, matched for age, sex and body mass index, were used for comparison. Eight patients were female (44.5%) and 10 patients were male (55.5%); mean age was 31.8 years (range 11-79) and CMTNS range was 6-26. Differences between CMT2 and CG in the spirometry and respiratory muscle strength were statistically significant for all dimensions. There were significant correlations between CMTNS and MIP (Pearson = -0.581) and MEP (Pearson = -0.5090). The results of this study show that patients with CMT, in spite of not showing clinical signs of advanced respiratory impairment, may present subclinical respiratory changes. The respiratory comprise in the CMT disease can be silent and insidious without presenting characteristic clinical signals.

  6. Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

    PubMed

    Huang, Jia; Wu, Xingyao; Montenegro, Gladys; Price, Justin; Wang, Gaofeng; Vance, Jeffery M; Shy, Michael E; Züchner, Stephan

    2010-05-01

    Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of the most common CMT type, CMT1A, is a 1.5 Mb chromosomal duplication at 17p12 that contains the gene PMP22. Only recently it has been realized that such copy number variants (CNV) are a widespread phenomenon and important for disease. However, it is not known whether CNVs play a wider role in hereditary peripheral neuropathies outside of CMT1A. In a phenotypically heterogeneous sample of 97 patients, we performed the first high-density CNV study of 34 genomic regions harboring known genes for hereditary peripheral neuropathies including the 17p12 duplication region, with comparative genomic hybridization (CGH) microarrays. We identified three CNVs that affected coding exons. A novel shorter form of a PMP22 duplication was detected in a CMT1A family previously tested negative in a commercial test. Two other CNVs in MTMR2 and ARHGEF10 are likely not disease associated. Our results indicate that CNVs are a rare cause for non-CMT1A CMT. Their potential relevance as disease modifiers remains to be evaluated. The present study design cannot rule out that specific CMT forms exist where CNVs play a larger role.

  7. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

    PubMed

    Menezes, Manoj P; Waddell, Leigh; Lenk, Guy M; Kaur, Simranpreet; MacArthur, Daniel G; Meisler, Miriam H; Clarke, Nigel F

    2014-08-01

    Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous and classification based on motor nerve conduction velocity and inheritance is used to direct genetic testing. With the less common genetic forms of CMT, identifying the causative genetic mutation by Sanger sequencing of individual genes can be time-consuming and costly. Next-generation sequencing technologies show promise for clinical testing in diseases where a similar phenotype is caused by different genes. We report the unusual occurrence of CMT4J, caused by mutations in FIG4, in a apparently dominant pedigree. The affected proband and her mother exhibit different disease severities associated with different combinations of compound heterozygous FIG4 mutations, identified by whole exome sequencing. The proband was also shown to carry a de novo nonsense mutation in the dystrophin gene, which may contribute to her more severe phenotype. This study is a cautionary reminder that in families with two generations affected, explanations other than dominant inheritance are possible, such as recessive inheritance due to three mutations segregating in the family. It also emphasises the advantages of next-generation sequencing approaches that screen multiple CMT genes at once for patients in whom the common genes have been excluded.

  8. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

    PubMed

    Choi, B-O; Nakhro, K; Park, H J; Hyun, Y S; Lee, J H; Kanwal, S; Jung, S-C; Chung, K W

    2015-06-01

    Charcot-Marie-Tooth disease 2A (CMT2A) is the most common axonal form of peripheral neuropathy caused by a defect in the mitofusin 2 (MFN2) gene, which encodes an outer mitochondrial membrane GTPase. MFN2 mutations result in a large range of phenotypes. This study analyzed the prevalence of MFN2 mutation in Korean families with their assorted phenotypes (607 CMT families and 160 CMT2 families). Direct sequencing of the MFN2 coding exons or whole-exome sequencing has been applied to identify causative mutations. A total of 21 mutations were found in 36 CMT2 families. Comparative genotype-phenotype correlations impacting severity, onset age, and specific symptoms were assessed. Most mutations were seen in the GTPase domain (∼86%). A deletion mutation found in the transmembrane helices is reported for the first time, as well as five novel mutations at other domains. MFN2 mutations made up 5.9% of total CMT families, whereas 22.9% in CMT2 families, of which 27.8% occurred de novo. Interestingly, patient phenotypes ranged from mild to severe even for the same mutation, suggesting other factors influenced phenotype and penetrance. This CMT2A cohort study will be useful for molecular diagnosis and treatment of axonal neuropathy.

  9. Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers

    SciTech Connect

    Lebo, R.V.; Lynch, E.D.; Golbus, M.S. ); Bird, T.D. ); Barker, D.F.; O'Connell, P.; Chance, P.F. )

    1992-01-01

    This study demonstrates a clear and current role for multicolor in situ hybridization in expediting positional cloning studies of unknown disease genes. Nine polymorphic DNA cosmids have been mapped to eight ordered locations spanning the Charcot-Marie-Tooth type 1 (CMT1A) disease gene region in distal band 17p11.2, by multicolor in situ hybridization. When used with linkage analysis, these methods have generated a fine physical map and have firmly assigned the CMT1A gene to distal band 17p11.2. Linkage analysis with four CMT1A pedigrees mapped the CMT1A gene with respect to two flanking markers. Additional loci were physically mapped and ordered by in situ hybridization and analysis of phase-known recombinants in CMT1A pedigrees. These data demonstrate the ability of in situ hybridization to resolve loci within 0.5 Mb on early-metaphase chromosomes. Multicolor in situ hybridization also excluded the possibility of pericentric inversions in two unrelated patients with CMT1 and neurofibromatosis type 1. When used with pulsed-field gel electrophoresis, multicolor in situ hybridization can establish physical location, order, and distance in closely spaced chromosome loci.

  10. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.

    PubMed

    Hyun, Young Se; Lee, Jinho; Kim, Hye Jin; Hong, Young Bin; Koo, Heasoo; Smith, Alec S T; Kim, Deok-Ho; Choi, Byung-Ok; Chung, Ki Wha

    2015-11-01

    Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating subtype of peripheral enuropathies caused by mutations in the FGD4 gene. Most CMT4H patients are in consanguineous Mediterranean families characterized by early onset and slow progression. We identified two CMT4H patients from a Korean CMT cohort, and performed a detailed genetic and clinical analysis in both cases. Both patients from nonconsanguineous families showed characteristic clinical manifestations of CMT4H including early onset, scoliosis, areflexia, and slow disease progression. Exome sequencing revealed novel compound heterozygous mutations in FGD4 as the underlying cause in both families (p.Arg468Gln and c.1512-2A>C in FC73, p.Met345Thr and c.2043+1G>A (p.Trp663Trpfs*30) in FC646). The missense mutations were located in highly conserved RhoGEF and PH domains which were predicted to be pathogenic in nature by in silico modeling. The CMT4H occurrence frequency was calculated to 0.7% in the Korean demyelinating CMT patients. This study is the first report of CMT4H in Korea. FGD4 assay could be considered as a means of molecular diagnosis for sporadic cases of demyelinating CMT with slow progression.

  11. Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A.

    PubMed

    Fledrich, Robert; Stassart, Ruth M; Klink, Axel; Rasch, Lennart M; Prukop, Thomas; Haag, Lauren; Czesnik, Dirk; Kungl, Theresa; Abdelaal, Tamer A M; Keric, Naureen; Stadelmann, Christine; Brück, Wolfgang; Nave, Klaus-Armin; Sereda, Michael W

    2014-09-01

    Duplication of the gene encoding the peripheral myelin protein of 22 kDa (PMP22) underlies the most common inherited neuropathy, Charcot-Marie-Tooth 1A (CMT1A), a disease without a known cure. Although demyelination represents a characteristic feature, the clinical phenotype of CMT1A is determined by the degree of axonal loss, and patients suffer from progressive muscle weakness and impaired sensation. CMT1A disease manifests within the first two decades of life, and walking disabilities, foot deformities and electrophysiological abnormalities are already present in childhood. Here, we show in Pmp22-transgenic rodent models of CMT1A that Schwann cells acquire a persistent differentiation defect during early postnatal development, caused by imbalanced activity of the PI3K-Akt and the Mek-Erk signaling pathways. We demonstrate that enhanced PI3K-Akt signaling by axonally overexpressed neuregulin-1 (NRG1) type I drives diseased Schwann cells toward differentiation and preserves peripheral nerve axons. Notably, in a preclinical experimental therapy using a CMT1A rat model, when treatment is restricted to early postnatal development, soluble NRG1 effectively overcomes impaired peripheral nerve development and restores axon survival into adulthood. Our findings suggest a model in which Schwann cell differentiation within a limited time window is crucial for the long-term maintenance of axonal support.

  12. Bicyclic-Capped Histone Deacetylase 6 Inhibitors with Improved Activity in a Model of Axonal Charcot-Marie-Tooth Disease.

    PubMed

    Shen, Sida; Benoy, Veronick; Bergman, Joel A; Kalin, Jay H; Frojuello, Mariana; Vistoli, Giulio; Haeck, Wanda; Van Den Bosch, Ludo; Kozikowski, Alan P

    2016-02-17

    Charcot-Marie-Tooth (CMT) disease is a disorder of the peripheral nervous system where progressive degeneration of motor and sensory nerves leads to motor problems and sensory loss and for which no pharmacological treatment is available. Recently, it has been shown in a model for the axonal form of CMT that histone deacetylase 6 (HDAC6) can serve as a target for the development of a pharmacological therapy. Therefore, we aimed at developing new selective and activity-specific HDAC6 inhibitors with improved biochemical properties. By utilizing a bicyclic cap as the structural scaffold from which to build upon, we developed several analogues that showed improved potency compared to tubastatin A while maintaining excellent selectivity compared to HDAC1. Further screening in N2a cells examining both the acetylation of α-tubulin and histones narrowed down the library of compounds to three potent and selective HDAC6 inhibitors. In mutant HSPB1-expressing DRG neurons, serving as an in vitro model for CMT2, these inhibitors were able to restore the mitochondrial axonal transport deficits. Combining structure-based development of HDAC6 inhibitors, screening in N2a cells and in a neuronal model for CMT2F, and preliminary ADMET and pharmacokinetic profiles, resulted in the selection of compound 23d that possesses improved biochemical, functional, and druglike properties compared to tubastatin A.

  13. Re-examination of sea lamprey control policies for the St. Marys River: Completion of an adaptive management cycle

    USGS Publications Warehouse

    Jones, Michael L.; Brenden, Travis O.; Irwin, Brian J.

    2015-01-01

    The St. Marys River (SMR) historically has been a major producer of sea lampreys (Petromyzon marinus) in the Laurentian Great Lakes. In the early 2000s, a decision analysis (DA) project was conducted to evaluate sea lamprey control policies for the SMR; this project suggested that an integrated policy of trapping, sterile male releases, and Bayluscide treatment was the most cost-effective policy. Further, it concluded that formal assessment of larval sea lamprey abundance and distribution in the SMR would be valuable for future evaluation of control strategies. We updated this earlier analysis, adding information from annual larval assessments conducted since 1999 and evaluating additional control policies. Bayluscide treatments continued to be critical for sea lamprey control, but high recruitment compensation minimized the effectiveness of trapping and sterile male release under current feasible ranges. Because Bayluscide control is costly, development of strategies to enhance trapping success remains a priority. This study illustrates benefits of an adaptive management cycle, wherein models inform decisions, are updated based on learning achieved from those decisions, and ultimately inform future decisions.

  14. Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, Type 2B

    SciTech Connect

    Vance, J.M.; Speer, M.C.; Stajich, J.M.

    1996-07-01

    Recently Kwon et al. published in the Journal their work describing linkage of a single large family with an inherited axonal neuropathy to chromosome 3, which they suggest is a second locus for Charcot-Marie-Tooth (CMT) type 2 and subsequently named {open_quotes}CMT2B.{close_quotes} We think that the diagnostic classification of this family as CMT2 is incorrect, since the subjects have a severe sensory neuropathy that fits within the hereditary sensory and autonomic neuropathy (HSAN) type 1 classification of Dyck (1993). Abnormal sensory findings in CMT2 separate it from distal spinal muscular atrophy but are a minor component of clinical symptoms in most CMT patients, as CMT is primarily a motor neuropathy. When Kwon et al. state that {open_quotes}all [patients] had characteristic findings in their physical examinations, including... evidence of foot sores that were slow to heal, or amputated limbs related to the poorly healing foot ulcers,{close_quotes} it suggests that a different diagnosis is more appropriate. In our experience collecting data on >950 individuals in >60 CMT1, CMT2, CMTX and CMT4 families, we have not seen foot ulcers, osteomyelitis, or amputations. Ulcerations leading to osteomyelitis and amputations are usually associated with severe sensory neuropathies. 16 refs., 1 tab.

  15. Jules and Augusta Dejerine, Pierre Marie, Joseph Babiński, Georges Guillain and their students during World War I.

    PubMed

    Walusinski, O

    2017-03-24

    World War I (1914-1918), however tragic, was nonetheless an "edifying school of nervous system experimental pathology" not only because of the various types of injuries, but also because their numbers were greater than any physician could have foreseen. The peripheral nervous system, the spine and the brain were all to benefit from the subsequent advances in clinical and anatomo-functional knowledge. Neurosurgeons took on nerve sutures, spinal injury exploration, and the localization and extraction of intracranial foreign bodies. Little by little, physical medicine and rehabilitation were established. A few of the most famous Parisian neurologists at the time-Jules and Augusta Dejerine, Pierre Marie, Joseph Babiński and Georges Guillain, who directed the military neurology centers-took up the physically and emotionally exhausting challenge of treating thousands of wounded soldiers. They not only cared for them, but also studied them scientifically, with the help of a small but devoted band of colleagues. The examples presented here reveal their courage and their efforts to make discoveries for which we remain grateful today.

  16. Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

    PubMed

    Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, R E; Bernert, G; Pieber, T R; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, M R; Janecke, A R

    2008-02-01

    Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They are associated with severe demyelination of the peripheral nerves and sometimes lead to prominent sensory disturbances. To evaluate the frequency of GDAP1 and PRX mutations in early onset CMT, we examined seven AR-CMT families and 12 sporadic CMT patients, all presenting with progressive distal muscle weakness and wasting. In one family also prominent sensory abnormalities and sensory ataxia were apparent from early childhood. In three families we detected four GDAP1 mutations (L58LfsX4, R191X, L239F and P153L), one of which is novel and is predicted to cause a loss of protein function. In one additional family with prominent sensory abnormalities a novel homozygous PRX mutation was found (A700PfsX17). No mutations were identified in 12 sporadic cases. This study suggests that mutations in the GDAP1 gene are a common cause of early-onset AR-CMT. In patients with early-onset demyelinating AR-CMT and severe sensory loss PRX is one of the genes to be tested.

  17. Mapping of the chromosome 1p36 region surrounding the Charcot-Marie-Tooth disease type 2A locus

    SciTech Connect

    Denton, P.; Gere, S.; Wolpert, C.

    1994-09-01

    Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Although CMT2 is clinically indistinguishable from CMT1, the two forms can be differentiated by pathological and neurophysiological methods. We have established one locus, CMT2A on chromosome 1p36, and have established genetic heterogeneity. This locus maps to the region of the deletions associated with neuroblastoma. We have now identified an additional 11 CMT2 families. Three families are linked to chromosome 1p36 while six families are excluded from this region. Another six families are currently under analysis and collection. To date the CMT2A families represent one third of those CMT2 families examined. We have established a microdissection library of the 1p36 region which is currently being characterized for microsatellite repeats and STSs using standard hybridization techniques and a modified degenerate primer method. In addition, new markers (D1S253, D1S450, D1S489, D1S503, GATA27E04, and GATA4H04) placed in this region are being mapped using critical recombinants in the CEPH reference pedigrees. Fluorescent in situ hybridization (FISH) has been used to confirm mapping. A YAC contig is being assembled from the CEPH megabase library using STSs to isolate key YACs which are extended by vectorette end clone and Alu-PCR. These findings suggest that the CMT2 phenotype is secondary to at least two different genes and demonstrates further heterogeneity in the CMT phenotype.

  18. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.

    PubMed

    Abrams, Charles K; Freidin, Mona

    2015-06-01

    Charcot-Marie-Tooth disease (CMT) is a group of inherited diseases characterized by exclusive or predominant involvement of the peripheral nervous system. Mutations in GJB1, the gene encoding Connexin 32 (Cx32), a gap-junction channel forming protein, cause the most common X-linked form of CMT, CMT1X. Cx32 is expressed in Schwann cells and oligodendrocytes, the myelinating glia of the peripheral and central nervous systems, respectively. Thus, patients with CMT1X have both central and peripheral nervous system manifestations. Study of the genetics of CMT1X and the phenotypes of patients with this disorder suggest that the peripheral manifestations of CMT1X are likely to be due to loss of function, while in the CNS gain of function may contribute. Mice with targeted ablation of Gjb1 develop a peripheral neuropathy similar to that seen in patients with CMT1X, supporting loss of function as a mechanism for the peripheral manifestations of this disorder. Possible roles for Cx32 include the establishment of a reflexive gap junction pathway in the peripheral and central nervous system and of a panglial syncitium in the central nervous system.

  19. Miocene-Pliocene ice-volcano interactions at monogenetic volcanoes near Hobbs Coast, Marie Byrd Land, Antarctica

    USGS Publications Warehouse

    Wilch, T.I.; McIntosh, W.C.

    2007-01-01

    Ar geochronology of seven eroded monogenetic volcanoes near the Hobbs Coast, Marie Byrd Land, West Antarctica provide proxy records of WAIS paleo-ice-levels in Miocene-Pliocene times. Interpretations, based on lithofacies analysis, indicate whether the volcanoes erupted below, near, or above the level of the ice sheet. Our interpretations differ significantly from previous interpretations as they highlight the abundant evidence for ice-volcano interactions at emergent paleoenvironments but limited evidence of higher-than-present syn-eruptive ice-levels. Evidence for subglacial volcanic paleoenvironments is limited to Kennel Peak, a ~8 Ma volcano where a pillow lava sequence extending 25 m above current ice level overlies an inferred glacial till and unconformity. A major complication in the Hobbs Coast region is that the volcanism occurred on interfluves between regions of fast-flowing ice. Such a setting precludes establishing precise regional paleo-ice-levels although the presence or absence of ice at times of eruptions can be inferred.

  20. Creating the ‘ethics industry': Mary Warnock, in vitro fertilization and the history of bioethics in Britain

    PubMed Central

    Wilson, Duncan

    2011-01-01

    Recent decades have seen a shift in the management and discussion of biomedicine. Issues once considered by doctors and scientists are now handled by a diverse array of participants, including philosophers, lawyers, theologians and lay representatives. This new approach, known as ‘bioethics', has become the norm in regulatory committees and public debate. In this article, I argue that bioethics emerged as a valued enterprise in Britain during the 1980s because it fulfilled, and linked, the concerns of several groups. My analysis centres on the moral philosopher Mary Warnock, who chaired a government inquiry into human fertilization and embryology between 1982 and 1984, and became a strong advocate of bioethics. I detail how Warnock's promotion of bioethics tallied with the Conservative government's desire for increased surveillance of hitherto autonomous professions – while fulfilling her own belief that philosophers should engage in public affairs. And I also show that Warnock simultaneously promoted bioethics to doctors and scientists as an essential safeguard against declining political and public trust. This stance, I argue, framed bioethics as a vital intermediary between politics, the public, and biomedicine, and explains the growth and endurance of what the Guardian identified as an ethics industry. PMID:22563348

  1. Introduction to the EC's Marie Curie Initial Training Network (MC-ITN) project: Particle Training Network for European Radiotherapy (PARTNER).

    PubMed

    Dosanjh, Manjit; Magrin, Giulio

    2013-07-01

    PARTNER (Particle Training Network for European Radiotherapy) is a project funded by the European Commission's Marie Curie-ITN funding scheme through the ENLIGHT Platform for 5.6 million Euro. PARTNER has brought together academic institutes, research centres and leading European companies, focusing in particular on a specialized radiotherapy (RT) called hadron therapy (HT), interchangeably referred to as particle therapy (PT). The ultimate goal of HT is to deliver more effective treatment to cancer patients leading to major improvement in the health of citizens. In Europe, several hundred million Euro have been invested, since the beginning of this century, in PT. In this decade, the use of HT is rapidly growing across Europe, and there is an urgent need for qualified researchers from a range of disciplines to work on its translational research. In response to this need, the European community of HT, and in particular 10 leading academic institutes, research centres, companies and small and medium-sized enterprises, joined together to form the PARTNER consortium. All partners have international reputations in the diverse but complementary fields associated with PT: clinical, radiobiological and technological. Thus the network incorporates a unique set of competencies, expertise, infrastructures and training possibilities. This paper describes the status and needs of PT research in Europe, the importance of and challenges associated with the creation of a training network, the objectives, the initial results, and the expected long-term benefits of the PARTNER initiative.

  2. Steroid-dependent sensorineural hearing loss in a patient with Charcot-Marie-Tooth disease showing auditory neuropathy.

    PubMed

    Maeda, Yukihide; Kataoka, Yuko; Sugaya, Akiko; Kariya, Shin; Kobayashi, Katsuhiro; Nishizaki, Kazunori

    2015-06-01

    Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary sensorimotor neuropathy and sometimes involves disorders of the peripheral auditory system. We present a case of steroid-dependent auditory neuropathy associated with CMT, in which the patient experienced 3 episodes of acute exacerbation of hearing loss and successful rescue of hearing by prednisolone. An 8-year-old boy was referred to the otolaryngology department at the University Hospital. He had been diagnosed with CMT type 1 (demyelinating type) at the Child Neurology Department and was suffering from mild hearing loss due to auditory neuropathy. An audiological diagnosis of auditory neuropathy was confirmed by auditory brainstem response and distortion-product otoacoustic emissions. At 9 years and 0 months old, 9 years and 2 months old, and 10 years and 0 months old, he had experienced acute exacerbations of hearing loss, each of which was successfully rescued by intravenous or oral prednisolone within 2 weeks. Steroid-responsive cases of CMT have been reported, but this is the first case report of steroid-responsive sensorineural hearing loss in CMT. The present case may have implications for the mechanisms of action of glucocorticoids in the treatment of sensorineural hearing loss.

  3. ABLATION OF THE UPR–MEDIATOR CHOP RESTORES MOTOR FUNCTION AND REDUCES DEMYELINATION IN CHARCOT MARIE TOOTH 1B MICE

    PubMed Central

    Pennuto, Maria; Tinelli, Elisa; Malaguti, MariaChiara; Del Carro, Ubaldo; D'Antonio, Maurizio; Ron, David; Quattrini, Angelo; Feltri, M. Laura; Wrabetz, Lawrence

    2008-01-01

    SUMMARY Deletion of serine 63 from P0 glycoprotein (P0S63del) causes Charcot-Marie-Tooth 1B neuropathy in humans, and P0S63del produces a very similar demyelinating neuropathy in transgenic mice. P0S63del is retained in the endoplasmic reticulum and fails to be incorporated into myelin. Here we report that P0S63del is globally misfolded and Schwann cells mount a consequential canonical unfolded protein response (UPR), that includes expression of the transcription factor CHOP, previously associated with apoptosis in ER-stressed cells. UPR activation and CHOP expression respond dynamically to P0S63del levels and are reversible, but are associated with only limited apoptosis of Schwann cells. Nonetheless, Chop ablation in S63del mice completely rescues their motor deficit and reduces active demyelination two-fold. This is the first indication that signaling through the CHOP arm of the UPR provokes demyelination in inherited neuropathy. In addition, S63del mice provide a unique opportunity to explore how cells can dysfunction yet survive in prolonged ER stress—important for neurodegeneration related to misfolded proteins. PMID:18255032

  4. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

    PubMed

    Timmerman, Vincent; Strickland, Alleene V; Züchner, Stephan

    2014-01-22

    Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders affecting the peripheral nervous system. CMT is characterized by a clinically and genetically heterogeneous group of neuropathies, involving all types of Mendelian inheritance patterns. Over 1,000 different mutations have been discovered in 80 disease-associated genes. Genetic research of CMT has pioneered the discovery of genomic disorders and aided in understanding the effects of copy number variation and the mechanisms of genomic rearrangements. CMT genetic study also unraveled common pathomechanisms for peripheral nerve degeneration, elucidated gene networks, and initiated the development of therapeutic approaches. The reference genome, which became available thanks to the Human Genome Project, and the development of next generation sequencing tools, considerably accelerated gene and mutation discoveries. In fact, the first clinical whole genome sequence was reported in a patient with CMT. Here we review the history of CMT gene discoveries, starting with technologies from the early days in human genetics through the high-throughput application of modern DNA analyses. We highlight the most relevant examples of CMT genes and mutation mechanisms, some of which provide promising treatment strategies. Finally, we propose future initiatives to accelerate diagnosis of CMT patients through new ways of sharing large datasets and genetic variants, and at ever diminishing costs.

  5. [Louis-Marie Rousseau and the "Chocolat rationnel des pharmaciens français" (Rational Chocolate of French pharmacists)].

    PubMed

    Raynal, Cécile

    2015-03-01

    In 1883, the chemist Louis-Marie Rousseau (1849-1930) creats the "Compagnie hygiénique française" (French Hygienic Company). The company manufactures and sells the "Poudre de viande Rousseau" (Rousseau meat powder) and the "Chocolat Rousseau" (Rousseau Chocolate) by methods developed and patented by the pharmacist. Ten years after a successful collaboration, L.-M. Rousseau separates from his associates and founds the "Chocolaterie spéciale d'Ermont" (Special Chocolate factory of Ermont) in the village of Ermont near Paris. Here is manufactured the "Chocolat Rationnel des pharmaciens français" (Rational Chocolate of French pharmacists), hygienic chocolate sold only in pharmacies. The factory is also a pharmaceutical laboratory where is extracted theobromine from waste vegetable substances of cocoa. It then produces the "Théobromine Rousseau cristallisée" (crystallized Rousseau's Theobromine) sold as tablets, then the "Théosol" that will be commercialized until the middle of 1930s.

  6. Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.

    PubMed

    Li, Li-Xi; Zhao, Shao-Yun; Liu, Zhi-Jun; Ni, Wang; Li, Hong-Fu; Xiao, Bao-Guo; Wu, Zhi-Ying

    2016-05-10

    Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype-phenotype correlations in many CMT patients make it difficult to decide which genes are affected. Recently, targeted next-generation sequencing (NGS) has been introduced as an alternative approach for diagnosis of genetic disorders. Here, we applied targeted NGS in combination with PMP22 duplication/deletion analysis to screen causative genes in 22 Chinese CMT families. The novel variants detected by targeted NGS were then further studied in cultured cells. Of the 22 unrelated patients, 8 had PMP22 duplication. The targeted NGS revealed 10 possible pathogenic variants in 11 patients, including 7 previously reported variants and 3 novel heterozygous variants (GJB1: p.Y157H; MFN2: p.G127S; YARS: p.V293M). Further classification of the novel variants according to American College of Medical Genetics and Genomics (ACMG) standards and guidelines and functional analysis in cultured cells indicated that p.Y157H in GJB1 was pathogenic, p.G127S in MFN2 was likely pathogenic, while p.V293M in YARS was likely benign. Our results suggest the potential for targeted NGS to make a more rapid and precise diagnosis in CMT patients. Moreover, the functional analysis is required when the novel variants are indistinct.

  7. Verrucosispora maris sp. nov., a novel deep-sea actinomycete isolated from a marine sediment which produces abyssomicins.

    PubMed

    Goodfellow, Michael; Stach, James E M; Brown, Roselyn; Bonda, Avinash Naga Venkata; Jones, Amanda L; Mexson, Joanne; Fiedler, Hans-Peter; Zucchi, Tiago Domingues; Bull, Alan T

    2012-01-01

    Verrucosispora isolate AB-18-032(T), the abyssomicin- and proximicin-producing actinomycete, has chemotaxonomic and morphological properties consistent with its classification in the genus Verrucosispora. The organism formed a distinct phyletic line in the Verrucosispora 16S rRNA gene tree sharing similarities of 99.7%, 98.7% and 98.9% with Verrucosispora gifhornensis DSM 44337(T), Verrucosispora lutea YIM 013(T) and Verrucosispora sediminis MS 426(T), respectively. It was readily distinguished from the two latter species using a range of phenotypic features and from V. gifhornensis DSM 44337(T), its nearest phylogenetic neighbor, by a DNA G+C content of 65.5 mol% obtained by thermal denaturation and fluorometry and DNA:DNA relatedness values of 64.0% and 65.0% using renaturation and fluorometric methods, respectively. It is apparent from the combined genotypic and phenotypic data that strain AB-18-032(T) should be classified in the genus Verrucosispora as a new species. The name Verrucosispora maris sp. nov. is proposed for this taxon with isolate AB-18-032(T) (= DSM 45365(T) = NRRL B-24793(T)) as the type strain.

  8. Probing the human brain with stimulating electrodes: the story of Roberts Bartholow's (1874) experiment on Mary Rafferty.

    PubMed

    Harris, Lauren Julius; Almerigi, Jason B

    2009-06-01

    Roberts Bartholow's 1874 experiment on Mary Rafferty is widely cited as the first demonstration, by direct application of stimulating electrodes, of the motor excitability of the human cerebral cortex. The many accounts of the experiment, however, leave certain questions and details unexamined or unresolved, especially about Bartholow's goals, the nature and quality of the evidence, and the experiment's role in the history of theory and research on localisation of function. In this article, we try to fill these gaps and to tell the full story. We describe Bartholow's career up to 1874, review the theoretical and empirical background for the experiment, and present Bartholow's own account of the experiment as well as those of his supporters and critics. We then present our own analysis, assess the experiment's influence on contemporaneous scientific opinion about cortical excitability, and trace its citation record into our own time. We also review and assess ethical criticisms of Bartholow and their effects on his career, and we close by discussing the role we think the experiment deserves to play in the history of theory and research on cortical excitability.

  9. The collaboration of Antoine and Marie-Anne Lavoisier and the first measurements of human oxygen consumption.

    PubMed

    West, John B

    2013-12-01

    Antoine Lavoisier (1743-1794) was one of the most eminent scientists of the late 18th century. He is often referred to as the father of chemistry, in part because of his book Elementary Treatise on Chemistry. In addition he was a major figure in respiratory physiology, being the first person to recognize the true nature of oxygen, elucidating the similarities between respiration and combustion, and making the first measurements of human oxygen consumption under various conditions. Less well known are the contributions made by his wife, Marie-Anne Lavoisier. However, she was responsible for drawings of the experiments on oxygen consumption when the French revolution was imminent. These are of great interest because written descriptions are not available. Possible interpretations of the experiments are given here. In addition, her translations from English to French of papers by Priestley and others were critical in Lavoisier's demolition of the erroneous phlogiston theory. She also provided the engravings for her husband's textbook, thus documenting the extensive new equipment that he developed. In addition she undertook editorial work, for example in preparing his posthumous memoirs. The scientific collaboration of this husband-wife team is perhaps unique among the giants of respiratory physiology.

  10. Postural instability in Charcot-Marie-Tooth type 1A patients is strongly associated with reduced somatosensation.

    PubMed

    van der Linden, Marleen H; van der Linden, Saskia C; Hendricks, Henk T; van Engelen, Baziel G M; Geurts, Alexander C H

    2010-04-01

    In order to determine the influence of somatosensory impairments, due to the loss of large myelinated fibres, on the postural stability of Charcot-Marie-Tooth 1A (CMT) patients, a cross-sectional balance assessment was done. Nine CMT patients were compared with eight patients with a distal type of Spinal Muscular Atrophy (SMA), and 11 healthy control subjects. The balance assessment consisted of four tasks: quiet barefoot standing on a stable versus compliant surface, with eyes opened or closed. Force plate signals were used to calculate the velocity of the centre of pressure of the ground reaction forces. The patients' distal muscle force (MRC scale), vibration detection threshold (Rydel-Seiffer tuning fork) and superficial tactile sensation (Semmes-Weinstein monofilaments) were clinically assessed. Compared to the healthy subjects, postural stability of both patient groups was seriously impaired, however, increased visual dependency was only found in the CMT patients. The postural instability of the CMT patients correlated significantly with decreased vibration sense only. The strength of the correlation increased with task complexity. It is concluded that somatosensory deficits substantially contribute to impaired postural stability and increased visual dependency in CMT patients.

  11. An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease

    PubMed Central

    Kinter, Jochen; Lazzati, Thomas; Schmid, Daniela; Zeis, Thomas; Erne, Beat; Lützelschwab, Roland; Steck, Andreas J.; Pareyson, Davide; Peles, Elior; Schaeren-Wiemers, Nicole

    2012-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy caused by the duplication of the PMP22 gene. Demyelination precedes the occurrence of clinical symptoms that correlate with axonal degeneration. It was postulated that a disturbed axon-glia interface contribute to altered myelination consequently leading to axonal degeneration. In this study, we examined the expression of MAG and Necl4, two critical adhesion molecules that are present at the axon-glia interface, in sural nerve biopsies of CMT1A patients and in peripheral nerves of mice overexpressing human PMP22, an animal model for CMT1A. We show an increase in the expression of MAG and a strong decrease of Necl4 in biopsies of CMT1A patients as well as in CMT1A mice. Expression analysis revealed that MAG is strongly upregulated during peripheral nerve maturation, whereas Necl4 expression remains very low. Ablating MAG in CMT1A mice results in separation of axons from their myelin sheath. Our data show that MAG is important for axon-glia contact in a model for CMT1A, and suggest that its increased expression in CMT1A disease has a compensatory role in the pathology of the disease. Thus, we demonstrate that MAG together with other adhesion molecules such as Necl4 is important in sustaining axonal integrity. PMID:22940629

  12. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.

    PubMed

    Nobbio, Lucilla; Visigalli, Davide; Radice, Davide; Fiorina, Elisabetta; Solari, Alessandra; Lauria, Giuseppe; Reilly, Mary M; Santoro, Lucio; Schenone, Angelo; Pareyson, Davide

    2014-06-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with increased gene dosage for PMP22. Therapeutic approaches are currently aiming at correcting PMP22 over-expression. It is unknown whether PMP22 can be used as a biological marker of disease progression and therapy efficacy. We performed quantitative real-time polymerase chain reaction on skin biopsies of 45 patients with CMT1A, obtained at study entry and after 24-months of treatment either with ascorbic acid or placebo. Data of a subgroup of patients were also compared with matched healthy subjects. Finally, we analysed PMP22 messenger RNA levels in sural nerve biopsies. We did not find significant differences in the levels of any known PMP22 transcripts in treated or untreated patients with CMT1A, thus confirming that ascorbic acid does not impact on the molecular features of CMT1A. Most importantly, we did not observe any correlation between PMP22 messenger RNA levels and the different clinical and electrophysiological outcome measures, underscoring the weakness of PMP22 to mirror the phenotypic variability of patients with CMT1A. We did not find increased PMP22 messenger RNA levels in skin and sural nerve biopsies of patients with CMT1A compared with relative controls. In conclusion, this study shows that ascorbic acid does not impact on PMP22 transcriptional regulation and PMP22 is not a suitable biomarker for CMT1A.

  13. Health-hazard evaluation report HETA 91-158-2161, Immaculate Heart of Mary Church, Cincinnati, Ohio

    SciTech Connect

    Cook, C.K.

    1991-11-01

    In response to a request from a representative of the Immaculate Heart of Mary Church (SIC-8661), an investigation was made of indoor air quality in the church office. Particular attention was directed toward laser printer and photocopier emissions. Employees had complained of headaches, dizziness, confusion, nausea, eye irritation, and dry nose and throat. Day shift employees performed general office duties, often using a photocopier and a laser printer. Real time ozone (10028156) concentrations ranged from below the limit of detection (LOD) to 0.05 parts per million (ppm) in the breathing zone, all below the NIOSH limit for short term exposure of 0.10ppm. Ozone concentrations as high as 0.56ppm were detected at the laser printer exhaust. Carbon-dioxide (124389) concentrations ranged from 400 to 850ppm. Respirable dust concentrations ranged from below the LOD to 90 micrograms per cubic meter. Carbon-monoxide (630080) levels were not above the LOD of 5ppm. No volatile organic carbons were detected. Temperature and relative humidity levels were within the guidelines. Some of the symptoms were consistent with ozone exposure. The author concludes that efforts should be made to reduce ozone exposures. The author recommends relocating the laser printer, providing additional outside air to the building, and checking for possible overloading or inefficiency in the ozone filter in the printer.

  14. Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

    PubMed

    Bissar-Tadmouri, N; Parman, Y; Boutrand, L; Deymeer, F; Serdaroglu, P; Vandenberghe, A; Battaloglu, E

    2000-11-01

    The major Charcot- Marie-Tooth Type 1 (CMT1) locus, CMT1A, and Hereditary neuropathy with liability to pressure palsies (HNPP) cosegregate with a 1.5-Mb duplication and a 1.5-Mb deletion, respectively, in band 17p11.2. Point mutations in peripheral myelin gene 22 (PMP22), myelin protein zero (MPZ), and connexin 32 (Cx32) have been reported in CMT1, and in PMP22 in HNPP patients without deletion. We have screened 54 CMT1 patients, of variable clinical severity, and 25 HNPP patients from Turkey, with no duplication or deletion, for mutations in the PMP22 and Cx32 genes. A novel frameshift mutation affecting the second extracellular domain of PMP22 was found in an HNPP patient, while a point mutation in the second transmembrane domain of the protein was detected in a CMT1 patient. Two point mutations affecting different domains of Cx32 were identified in two CMTX patients. Another patient was found to carry a polymorphism in a non-conserved codon of the Cx32 gene. The clinical phenotypes of the patients correlate well with the effect of the mutation on the protein.

  15. Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis

    PubMed Central

    Liu, Zhi-Jun; Ni, Wang; Li, Hong-Fu; Xiao, Bao-Guo; Wu, Zhi-Ying

    2016-01-01

    Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype-phenotype correlations in many CMT patients make it difficult to decide which genes are affected. Recently, targeted next-generation sequencing (NGS) has been introduced as an alternative approach for diagnosis of genetic disorders. Here, we applied targeted NGS in combination with PMP22 duplication/deletion analysis to screen causative genes in 22 Chinese CMT families. The novel variants detected by targeted NGS were then further studied in cultured cells. Of the 22 unrelated patients, 8 had PMP22 duplication. The targeted NGS revealed 10 possible pathogenic variants in 11 patients, including 7 previously reported variants and 3 novel heterozygous variants (GJB1: p.Y157H; MFN2: p.G127S; YARS: p.V293M). Further classification of the novel variants according to American College of Medical Genetics and Genomics (ACMG) standards and guidelines and functional analysis in cultured cells indicated that p.Y157H in GJB1 was pathogenic, p.G127S in MFN2 was likely pathogenic, while p.V293M in YARS was likely benign. Our results suggest the potential for targeted NGS to make a more rapid and precise diagnosis in CMT patients. Moreover, the functional analysis is required when the novel variants are indistinct. PMID:27027447

  16. Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse.

    PubMed

    Sidoli, Mariapaola; Musner, Nicolò; Silvestri, Nicholas; Ungaro, Daniela; D'Antonio, Maurizio; Cavener, Douglas R; Feltri, M Laura; Wrabetz, Lawrence

    2016-11-02

    In factory cells, the accumulation of misfolded protein provokes the unfolded protein response (UPR). For example, deletion of serine 63 (S63del) in myelin protein zero (P0) induces P0 accumulation in the endoplasmic reticulum (ER) of Schwann cells and a persistent UPR associated with Charcot-Marie-Tooth 1B (CMT1B) demyelinating peripheral neuropathy in human and mouse. PERK (protein kinase RNA-like ER kinase) is the ER stress sensor that attenuates global translation by phosphorylating eIF2α. Inhibition of the eIF2α holophosphatase GADD34:PP1, increases the phosphorylation of eIF2α in Schwann cells and largely rescues S63del neuropathy. Nonetheless, reducing phosphorylation of eIF2α, by Perk haploinsufficiency, also ameliorates the myelin defects of S63del nerves. This contradictory finding prompted us to investigate whether the beneficial effect of Perk deficiency on myelination could derive from neurons. To test this hypothesis, we generated and compared Schwann cell- and neuron-specific ablation of Perk in S63del nerves. Our data suggest that the detrimental effect of Perk in CMT1B derives primarily from Schwann cells. Furthermore, we show that Perk loss of function in Schwann cells restores myelination without diminishing accumulation of P0 or markers of ER stress, suggesting that Perk may modulate myelination through a pathway independent of the UPR.

  17. Evidence for an allocyclic origin of marine strata bounding the Upper Carboniferous Mary Lee coal zone, Warrior Basin, Alabama

    SciTech Connect

    Gastaldo, R.A. . Dept. of Geology); Demko, T.M. . Dept. of Geosciences)

    1992-01-01

    The Black Warrior Basin, a triangular foreland basin of Carboniferous age, is located at the southern end of the Appalachian orogen. A southwestward wedge of Mississippian and Lower Pennsylvanian sedimentary rocks occurs in the basin. The generally accepted model for basin-fill involves the progradation of a single delta, or multiple deltas (the Pottsville Formation), over an offshore carbonate bank (the Bangor Limestone). The Pottsville Formation is typical of Euramerican Carboniferous strata and is composed of the cyclical alternation of marine and terrestrial facies. The deposition of marine facies overlying terrestrial facies has been interpreted to have been the result of delta lobe switching and the compaction of underlying sediments, hence, autocyclic processes. Sedimentological features associated with the marine strata bounding the Mary Lee coal zone, the informal Jagger bedrock sandstone below and the Morris Shale above, are not indicative of circumstances generated by autocyclic processes. Rather, the marine strata highlight features resulting from allocyclic processes. The Jagger bedrock sandstone is a thick (> 15 m) sublitharenite interpreted as representing subtidal, shore-parallel bars. It is a sandstone body that was stranded on the shoreline during regional regression. The terrestrial coal-bearing strata are truncated by an erosional surface, marking the base of the Morris Shale. This ravinement surface is overlain by a ravinement bed representing a substrate developed by regional transgressive erosion that was subsequently colonized by open-marine macroinvertebrates. The ravinement bed is interpreted as a condensed section that accumulated under maximum water depth. Both of these features are indicative of development in response to extrinsic causes rather than intrinsic ones.

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

    PubMed

    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.

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

    PubMed Central

    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 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. PMID:24646194

  20. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.

    PubMed

    Roberts, Rhys C; Peden, Andrew A; Buss, Folma; Bright, Nicholas A; Latouche, Morwena; Reilly, Mary M; Kendrick-Jones, John; Luzio, J Paul

    2010-03-15

    Mutations in the functionally uncharacterized protein SH3TC2 are associated with the severe hereditary peripheral neuropathy, Charcot-Marie-Tooth disease type 4C (CMT4C). Similarly, to other proteins mutated in CMT, a role for SH3TC2 in endocytic membrane traffic has been previously proposed. However, recent descriptions of the intracellular localization of SH3TC2 are conflicting. Furthermore, no clear functional pathogenic mechanisms have so far been proposed to explain why both nonsense and missense mutations in SH3TC2 lead to similar clinical phenotypes. Here, we describe our intracellular localization studies, supported by biochemical and functional data, using wild-type and mutant SH3TC2. We show that wild-type SH3TC2 targets to the intracellular recycling endosome by associating with the small GTPase, Rab11, which is known to regulate the recycling of internalized membrane and receptors back to the plasma membrane. Furthermore, we demonstrate that SH3TC2 interacts preferentially with the GTP-bound form of Rab11, identifying SH3TC2 as a novel Rab11 effector. Of clinical pathological relevance, all SH3TC2 constructs harbouring disease-causing mutations are shown to be unable to associate with Rab11 with consequent loss of recycling endosome localization. Moreover, we show that wild-type SH3TC2, but not mutant SH3TC2, influences transferrin receptor dynamics, consistent with a functional role on the endocytic recycling pathway. Our data therefore implicate mistargeting of SH3TC2 away from the recycling endosome as the fundamental molecular defect that leads to CMT4C.

  1. Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.

    PubMed

    Rizzo, Federica; Ronchi, Dario; Salani, Sabrina; Nizzardo, Monica; Fortunato, Francesco; Bordoni, Andreina; Stuppia, Giulia; Del Bo, Roberto; Piga, Daniela; Fato, Romana; Bresolin, Nereo; Comi, Giacomo P; Corti, Stefania

    2016-10-01

    Charcot-Marie-Tooth 2A (CMT2A) is an inherited peripheral neuropathy caused by mutations in MFN2, which encodes a mitochondrial membrane protein involved in mitochondrial network homeostasis. Because MFN2 is expressed ubiquitously, the reason for selective motor neuron (MN) involvement in CMT2A is unclear. To address this question, we generated MNs from induced pluripotent stem cells (iPSCs) obtained from the patients with CMT2A as an in vitro disease model. CMT2A iPSC-derived MNs (CMT2A-MNs) exhibited a global reduction in mitochondrial content and altered mitochondrial positioning without significant differences in survival and axon elongation. RNA sequencing profiles and protein studies of key components of the apoptotic executioner program (i.e. p53, BAX, caspase 8, cleaved caspase 3, and the anti-apoptotic marker Bcl2) demonstrated that CMT2A-MNs are more resistant to apoptosis than wild-type MNs. Exploring the balance between mitochondrial biogenesis and the regulation of autophagy-lysosome transcription, we observed an increased autophagic flux in CMT2A-MNs that was associated with increased expression of PINK1, PARK2, BNIP3, and a splice variant of BECN1 that was recently demonstrated to be a trigger for mitochondrial autophagic removal. Taken together, these data suggest that the striking reduction in mitochondria in MNs expressing mutant MFN2 is not the result of impaired biogenesis, but more likely the consequence of enhanced mitophagy. Thus, these pathways represent possible novel molecular therapeutic targets for the development of an effective cure for this disease.

  2. Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

    PubMed Central

    Soong, Bing-Wen; Huang, Yen-Hua; Tsai, Pei-Chien; Huang, Chien-Chang; Pan, Hung-Chuan; Lu, Yi-Chun; Chien, Hsin-Ju; Liu, Tze-Tze; Chang, Ming-Hong; Lin, Kon-Ping; Tu, Pang-Hsien; Kao, Lung-Sen; Lee, Yi-Chung

    2013-01-01

    Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited neuropathies. Mutations in approximately 45 genes have been identified as being associated with CMT. Nevertheless, the genetic etiologies of at least 30% of CMTs have yet to be elucidated. Using a genome-wide linkage study, we previously mapped a dominant intermediate CMT to chromosomal region 3q28–q29. Subsequent exome sequencing of two affected first cousins revealed heterozygous mutation c.158G>A (p.Gly53Asp) in GNB4, encoding guanine-nucleotide-binding protein subunit beta-4 (Gβ4), to cosegregate with the CMT phenotype in the family. Further analysis of GNB4 in an additional 88 unrelated CMT individuals uncovered another de novo mutation, c.265A>G (p.Lys89Glu), in this gene in one individual. Immunohistochemistry studies revealed that Gβ4 was abundant in the axons and Schwann cells of peripheral nerves and that expression of Gβ4 was significantly reduced in the sural nerve of the two individuals carrying the c.158G>A (p.Gly53Asp) mutation. In vitro studies demonstrated that both the p.Gly53Asp and p.Lys89Glu altered proteins impaired bradykinin-induced G-protein-coupled-receptor (GPCR) signaling, which was facilitated by the wild-type Gβ4. This study identifies GNB4 mutations as a cause of CMT and highlights the importance of Gβ4-related GPCR signaling in peripheral-nerve function in humans. PMID:23434117

  3. Establishing and Scaling-Up Clinical Social Franchise Networks: Lessons Learned From Marie Stopes International and Population Services International.

    PubMed

    Thurston, Sarah; Chakraborty, Nirali M; Hayes, Brendan; Mackay, Anna; Moon, Pierre

    2015-06-17

    In many low- and middle-income countries, a majority of people seek health care from the private sector. However, fragmentation, poor economies of scale, inadequate financing, political opposition, a bias toward curative services, and weak regulatory and quality control systems pose serious challenges for the private sector. Social franchising addresses a number of these challenges by organizing small, independent health care businesses into quality-assured networks. Global franchisors Marie Stopes International (MSI) and Population Services International (PSI) have rapidly scaled their family planning social franchising programs in recent years, jointly delivering over 10.8 million couple-years of protection (CYPs) in 2014-up 26% from 8.6 million CYPs just 1 year prior. Drawing on experience across MSI's 17 and PSI's 25 social franchise networks across Africa, Asia, and Latin America and the Caribbean, this article documents the organizations' operational approaches, challenges faced, and solutions implemented. The organizations provide intensive capacity building and support for private-sector providers, including clinical training, branding, monitoring quality of franchised services, and commodity support. In addition, franchising programs engage providers and clients through behavior change communication (BCC) and demand generation activities to raise awareness and to attract clients, and they implement initiatives to ensure services are affordable for the lowest-income clients. Social franchise programs offer the private sector a collective platform to better engage government in health policy advocacy and for integrating into new public health care financing and procurement mechanisms. The future of social franchising will require developing approaches to scale-up and sustain the model cost-effectively, selectively integrating other health services into the franchise package, and being responsive to evolving health care financing approaches with the potential

  4. Mutational analysis of the myelin protein zero (MPZ) gene associated with Charcot-Marie-Tooth neuropathy type 1B

    SciTech Connect

    Roa, B.B.; Warner, L.E.; Lupski, J.R.

    1994-09-01

    The MPZ gene that maps to chromosome 1q22q23 encodes myelin protein zero, which is the most abundant peripheral nerve myelin protein that functions as a homophilic adhesion molecule in myelin compaction. Association of the MPZ gene with the dysmyelinating peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B) and the more severe Dejerine-Sottas syndrome (DSS) was previously demonstrated by MPZ mutations identified in CMT1B and in rare DSS patients. In this study, the coding region of the MPZ gene was screened for mutations in a cohort of 74 unrelated patients with either CMT type 1 or DSS who do not carry the most common CMT1-associated molecular lesion of a 1.5 Mb DNA duplication on 17p11.2-p12. Heteroduplex analysis detected base mismatches in ten patients that were distributed over three exons of MPZ. Direct sequencing of PCR-amplified genomic DNA identified a de novo MPZ mutation associated with CMT1B that predicts an Ile(135)Thr substitution. This finding further confirms the role of MPZ in the CMT1B disease process. In addition, two polymorphisms were identified within the Gly(200) and Ser(228) codons that do not alter the respective amino acid residues. A fourth base mismatch in MPZ exon 3 detected by heteroduplex analysis is currently being characterized by direct sequence determination. Previously, four unrelated patients in this same cohort were found to have unique point mutations in the coding region of the PMP22 gene. The collective findings on CMT1 point mutations could suggest that regulatory region mutations, and possibly mutations in CMT gene(s) apart from the MPZ, PMP22 and Cx32 genes identified thus far, may prove to be significant for a number of CMT1 cases that do not involve DNA duplication.

  5. Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease

    SciTech Connect

    Tan, C.; Ainsworth, P. |

    1994-09-01

    Charcot-Marie-Tooth disease is a pathologically and genetically hetergenous group of disorders that cause a progressive neuropathy, defined pathologically by degeneration of the myelin (CMT 1) of the axon (CMT 2) of the peripheral nerves. An X-linked type of the demyelinating form of this disorder (CMT X) has recently been linked to mutations in the connexin 32 (Cx32) gene, which codes for a 284 amino acid gap junction protein found in myelinated peripheral nerve. To date some 7 different mutations in this gene have been identified as being responsible for CMT X. The majority of these predict nonconservative amino acid substitutions, while one is a frameshift mutation which predicts a premature stop at codon 21. We report the results of molecular studies on three further local CMT X kindreds. The Cx32 gene was amplified by PCR in three overlapping fragments 300-450 bp in length using leukocyte-derived DNA as template. These were either sequenced directly using a deaza dGTP sequencing protocol, or were cloned and sequenced using a TA vector. In two of the kindreds the affected members carried a point mutation which was predicted to effect a non-conservative amino acid change within the first transmembrane domain. Both of these mutations caused a restriction site alteration (the loss of an Nla III and the creation of a Pvu II, respectively), and the former mutation was observed to segregate with the clinicial phenotype in affected family members. Affected members of the third kindred, which was a very large multigenerational family that had been extensively studied previously, were shown to carry a point mutation predicted to cause a premature truncation of the Cx32 gene product in the intracellular carboxy terminus. This mutation obliterated an Rsa I site which allowed a rapid screen of several other family members.

  6. Establishing and Scaling-Up Clinical Social Franchise Networks: Lessons Learned From Marie Stopes International and Population Services International

    PubMed Central

    Thurston, Sarah; Chakraborty, Nirali M; Hayes, Brendan; Mackay, Anna; Moon, Pierre

    2015-01-01

    In many low- and middle-income countries, a majority of people seek health care from the private sector. However, fragmentation, poor economies of scale, inadequate financing, political opposition, a bias toward curative services, and weak regulatory and quality control systems pose serious challenges for the private sector. Social franchising addresses a number of these challenges by organizing small, independent health care businesses into quality-assured networks. Global franchisors Marie Stopes International (MSI) and Population Services International (PSI) have rapidly scaled their family planning social franchising programs in recent years, jointly delivering over 10.8 million couple-years of protection (CYPs) in 2014—up 26% from 8.6 million CYPs just 1 year prior. Drawing on experience across MSI’s 17 and PSI’s 25 social franchise networks across Africa, Asia, and Latin America and the Caribbean, this article documents the organizations’ operational approaches, challenges faced, and solutions implemented. The organizations provide intensive capacity building and support for private-sector providers, including clinical training, branding, monitoring quality of franchised services, and commodity support. In addition, franchising programs engage providers and clients through behavior change communication (BCC) and demand generation activities to raise awareness and to attract clients, and they implement initiatives to ensure services are affordable for the lowest-income clients. Social franchise programs offer the private sector a collective platform to better engage government in health policy advocacy and for integrating into new public health care financing and procurement mechanisms. The future of social franchising will require developing approaches to scale-up and sustain the model cost-effectively, selectively integrating other health services into the franchise package, and being responsive to evolving health care financing approaches with the

  7. Lower limb manual muscle testing in the early stages of Charcot-Marie-Tooth disease type 1A.

    PubMed

    Vinci, Paolo; Serrao, Mariano; Pierelli, Francesco; Sandrini, Giorgio; Santilli, Valter

    2006-01-01

    Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous disorder that affects approximately one in 2,500 individuals. CMT 1A, which is due to a duplication in the area containing the PMP-22 gene on chromosome 17, is the most frequent CMT subtype. To date, there is no consensus among authors about which muscles are weakened in the early stages of CMT, even though this knowledge would be crucial for deciding the most appropriate interventions to restore balance between muscles and prevent the development of deformities. The aim of this study was to evaluate the strength of several lower limb muscles in the early stages of CMT 1A. In a series of 45 patients (age 10-72 years; 21 males, 24 females) affected by CMT 1A, we evaluated 83 non-operated lower limbs that corresponded to the two milder stages of a five-level functional classification. The strength of two foot muscles, seven leg muscles, two thigh muscles, and three pelvic girdle muscles was graded using the manual muscle testing techniques of Daniels and Worthingham; the power of the triceps surae was graded, in the prone position, using a 4-level scale of ability to raise the heel from the floor. Muscle strength was determined on the basis of interobserver agreement estimated by kappa statistics between two observers. The flexor hallucis brevis and lumbricals were very weak in all the limbs; the leg muscles were strong in more than 90% of limbs, except the peronei (strong in 83.13%); all the triceps surae were strong in the prone test, but 16.87% were weak in the standing test; all the proximal muscles were strong. In the large majority of patients in the early stages of CMT 1A, the intrinsic foot muscles are very weak and the leg and proximal muscles are strong.

  8. Report on the Workshop and Regular Meeting of the Imode-CKD and Bcmolmed Marie Curie Training and Research Programs.

    PubMed

    Krochmal, Magdalena; Cisek, Katryna; Markoska, Katerina; Spasovski, Goce; Vlahou, Antonia

    2015-01-01

    A Workshop and Regular Meeting of the Marie Curie Training and Research Programs iMODECKD (Identification of the Molecular Determinants of established Chronic Kidney Disease) and BCMolMed (Molecular Medicine for Bladder Cancer) was held from 20-22 March at the Macedonian Academy of Science and Arts (MASA). The meeting was hosted by the participating center University of Skopje (SKO) - Goce Spasovski and MASA - Momir Polenakovic (R. Macedonia). The representative from MASA proteomic research center - Katerina Davalieva (R. Macedonia) had presentation on proteomic research in prostate cancer (PCa). 40 researchers from 13 different countries participated at the meeting. The Workshop was devoted on "Chronic Kidney Disease: Clinical Management issues", and consisted of 15 oral presentations given by nephrologists and experts in the field of CKD. Raymond Vanholder (Belgium) - past president of ERA-EDTA had a keynote lecture on "CKD: Questions that need to be answered and are not (or at least not entirely)". The workshop continued in four sessions with lectures from Alberto Ortiz (Spain), Olivera Stojceva-Taneva (R. Macedonia), Dimitrios Goumenos (Greece), Joachim Beige (Germany), Marian Klinger (Poland), Goce Spasovski (R. Macedonia), Joachim Jankowski (Germany), Adalbert Schiller (Romania), Robert Johnson (USA), Franco Ferrario (Italy), Ivan Rychlik (Czech Republic), Fulvio Magni (Italy) and Giovambattista Capasso (Italy), all covering a training theme. Within the meeting there were two lectures on complimentary skills for ethics in science and career advancement from two principal investigators - Goce Spasovski (R. Macedonia) and Joost Schanstra (France). During the Regular Meeting, 13 PhD students i.e. Early Stage Researchers and one Experienced Researcher from both Programs presented their work and progress within iMODE-CKD and BCMolMed projects. This meeting was a great opportunity to exchange experience and ideas in the field of systems biology approaches and

  9. Scaling up delivery of contraceptive implants in sub-Saharan Africa: operational experiences of Marie Stopes International

    PubMed Central

    Duvall, Susan; Thurston, Sarah; Weinberger, Michelle; Nuccio, Olivia; Fuchs-Montgomery, Nomi

    2014-01-01

    Contraceptive implants offer promising opportunities for addressing the high and growing unmet need for modern contraceptives in sub-Saharan Africa. Marie Stopes International (MSI) offers implants as one of many family planning options. Between 2008 and 2012, MSI scaled up voluntary access to implants in 15 sub-Saharan African countries, from 80,041 implants in 2008 to 754,329 implants in 2012. This 9-fold increase amounted to more than 1.7 million implants delivered cumulatively over the 5-year period. High levels of client satisfaction were attained alongside service provision scale up by using existing MSI service delivery channels—mobile outreach, social franchising, and clinics—to implement strategies that broadened access for underserved clients and maintained service quality. Use of adaptive and context-specific service delivery models and attention to key operational components, including sufficient numbers of trained providers, strong supply chains, diverse financing mechanisms, and implant removal services, underpinned our service delivery efforts. Accounting for 70% of the implants delivered by MSI in 2012, mobile outreach services through dedicated MSI provider teams played a central role in scale-up efforts, fueled in part by the provision of free or heavily subsidized services. Social franchising also demonstrated promise for future program growth, along with MSI clinics. Continued high growth in implant provision between 2011 and 2012 in all sub-Saharan African countries indicates the region's capacity for further service delivery expansion. Meeting the expected rising demand for implants and ensuring long-term sustainable access to the method, as part of a comprehensive method mix, will require continued use of appropriate service delivery models, effective operations, and ongoing collaboration between the private, public, and nongovernmental sectors. MSI's experience can be instructive for future efforts to ensure contraceptive access and

  10. Efficacy of focal mechanic vibration treatment on balance in Charcot-Marie-Tooth 1A disease: a pilot study.

    PubMed

    Pazzaglia, Costanza; Camerota, F; Germanotta, M; Di Sipio, E; Celletti, C; Padua, L

    2016-07-01

    Patients affected by Charcot-Marie-Tooth (CMT) disease experience an impaired balance. Although the causes of the postural instability are not fully understood, somatosensory system seems to play a key role. Mechanical vibration seems to act on the somatosensory system and to improve its function. The aim of our study was to evaluate the effects of focal mechanical vibration (fMV) on the balance of CMT 1A patients. We enrolled 14 genetically confirmed CMT 1A patients (8 female and 6 male, mean age 492 years, range 32-74, mean duration of disease: 13 years, range 1-30). Patients underwent a 3-day fMV treatment on quadriceps and triceps surae and were evaluated before the treatment as well as 1 week and 1 month after the end of the treatment. The primary outcome measure was the Berg Balance Scale (BBS) and the secondary were the Dynamic Gait Index (DGI), the 6 Min Walking Test (6MWT), the muscular strength of lower limbs, the Quality of Life (QoL) questionnaire and the stabilometric variables. The statistical analysis showed a significant modification of the BBS due to the effect of treatment (p < 0.05). A significant modification was also found in the DGI (p < 0.05). Concerning the stabilometric variables we found significant changes only for the eyes closed condition; in particular, a significant decrease was found in VelocityML (p < 0.05) and Sway path length (p < 0.05). The fMV treatment applied on lower limbs of CMT 1A patients determined an improvement of balance as detected by the BBS. The concurrent improvement of stabilometric variables in the eyes closed condition only suggests that fMV acts mostly on somatosensory afferences. Further studies are needed to confirm these data on a larger sample of CMT patients.

  11. Development and implementation of an integrated program for control of sea lampreys in the St. Marys River

    USGS Publications Warehouse

    Schleen, Larry P.; Christie, Gavin C.; Heinrich, John W.; Bergstedt, Roger A.; Young, Robert J.; Morse, Terry J.; Lavis, Dennis S.; Bills, Terry D.; Johnson, James E.; Ebener, Mark P.

    2003-01-01

    The development and implementation of a strategy for control of sea lampreys (Petromyzon marinus) in the St. Marys River formed the basis for rehabilitation of lake trout (Salvelinus namaycush) and other fish in Lakes Huron and Michigan. The control strategy was implemented by the Great Lakes Fishery Commission (GLFC) upon recommendations by the interagency Sea Lamprey Integration Committee, and many managers and scientists from United States and Canada federal, state, provincial, tribal, and private institutions. Analyses of benefits vs. costs of control options and modeling of the cumulative effects on abundance of parasitic-phase sea lampreys and lake trout produced a strategy that involved an integration of control technologies that included long- and short-term measures. The longterm measures included interference with sea lamprey reproduction by the trapping and removal of spawning-phase sea lampreys from the river and the sterilization and release of the trapped male sea lampreys. The theoretical reduction of larvae produced in the river from these two combined techniques averaged almost 90% during 1997 to 1999. Lampricide treatment with granular Bayluscide of 880 ha of plots densely populated with larvae occurred during 1998, 1999, and 2001 because modeling showed the sooner parasitic-phase sea lamprey populations declined in Lake Huron the greater the improvement for restoration of lake trout during 1995 to 2015. Post-treatment assessments showed about 55% of the larvae had been removed from the river. An adaptive assessment plan predicted high probability of detection of control effects because of many available indicators. The GLFC will face several critical decisions beyond 2001, and initiated a decision analysis project to aid in those decisions.

  12. The impact on disability of initial treatment with methotrexate in patients with rheumatoid arthritis: results from the MARI study.

    PubMed

    Manara, M; Arcarese, L; Bianchi, G; Corbelli, V; Epis, O; Laurenti, R; Migliore, A; Muratore, M; Roncaglione, A; Rossini, M; Savo, M; Sinigaglia, L

    2016-12-31

    The study aimed to assess in a population of subjects with rheumatoid arthritis (RA) treated with methotrexate (MTX) how the initial approach to the treatment influenced subsequent disability. We performed a cross-sectional analysis of data collected during the baseline visit of the MARI study, a multicenter observational study on patients with RA on treatment with MTX for at least 12 months. Subjects who fulfilled the Health Assessment Questionnaire (HAQ) were included in the evaluation. For every patient we retrospectively evaluated the disease duration, the duration of symptoms before the diagnosis, the time elapsed before first MTX treatment, the initial MTX dose, and the concomitant medications in the first six months of therapy. Disability was defined as a DI-HAQ score ≥1. The study population included 1015 subjects. Patients with a DI-HAQ score ≥1 had a longer duration of symptoms before diagnosis, a higher delay in treatment initiation, a lower initial dose of MTX and a more frequent co-treatment with symptomatic drugs. Disability was found less frequently in subjects treated with other concomitant disease modifying anti-rheumatic drugs (DMARDs) but not with biological agents. Logistic regression analysis identified as significant predictors of disability: older age, female sex, a longer time to complete diagnosis, a delay in starting MTX treatment higher than 6 months, and a concomitant treatment with symptomatic drugs, while a combination therapy with other DMARDs was associated with a lower risk of disability. A late diagnosis and a delay in starting a treatment with MTX are associated with poorer functional outcomes in patients with RA.

  13. Scaling up delivery of contraceptive implants in sub-Saharan Africa: operational experiences of Marie Stopes International.

    PubMed

    Duvall, Susan; Thurston, Sarah; Weinberger, Michelle; Nuccio, Olivia; Fuchs-Montgomery, Nomi

    2014-02-01

    Contraceptive implants offer promising opportunities for addressing the high and growing unmet need for modern contraceptives in sub-Saharan Africa. Marie Stopes International (MSI) offers implants as one of many family planning options. Between 2008 and 2012, MSI scaled up voluntary access to implants in 15 sub-Saharan African countries, from 80,041 implants in 2008 to 754,329 implants in 2012. This 9-fold increase amounted to more than 1.7 million implants delivered cumulatively over the 5-year period. High levels of client satisfaction were attained alongside service provision scale up by using existing MSI service delivery channels-mobile outreach, social franchising, and clinics-to implement strategies that broadened access for underserved clients and maintained service quality. Use of adaptive and context-specific service delivery models and attention to key operational components, including sufficient numbers of trained providers, strong supply chains, diverse financing mechanisms, and implant removal services, underpinned our service delivery efforts. Accounting for 70% of the implants delivered by MSI in 2012, mobile outreach services through dedicated MSI provider teams played a central role in scale-up efforts, fueled in part by the provision of free or heavily subsidized services. Social franchising also demonstrated promise for future program growth, along with MSI clinics. Continued high growth in implant provision between 2011 and 2012 in all sub-Saharan African countries indicates the region's capacity for further service delivery expansion. Meeting the expected rising demand for implants and ensuring long-term sustainable access to the method, as part of a comprehensive method mix, will require continued use of appropriate service delivery models, effective operations, and ongoing collaboration between the private, public, and nongovernmental sectors. MSI's experience can be instructive for future efforts to ensure contraceptive access and choice

  14. Coal compositional changes along a mire interior to mire margin transect in the Mary Lee coal bed, Warrior Basin, Alabama, USA

    USGS Publications Warehouse

    Eble, C.F.; Gastaldo, R.A.; Demko, T.M.; Liu, Yajing

    1994-01-01

    Vertical increment samples of the Mary Lee coal bed, collected along an inferred mire interior to mire margin transect, were studied palynologically, petrographically and geochemically to determine if any vertical or lateral changes in coal composition could be detected. Results show the Mary Lee palynoflora to be dominated by Lycospora spp. (arboreous lycophytes), with other lycophyte genera, Crassispora (Sigillaria) and Densosporites (small lycophytes), occurring less frequently. Commonly encountered fern/pteridosperm miospore genera include Leiotriletes, Granulatisporites, Lophotriletes and Schulzospora. Calamospora, representing calamites, and Florinites, representing cordaites, are minor constituents of the overall palynoflora. Petrographically, the Mary Lee coal bed contains high percentages (> 75% mineral matter free, mmf) of vitrinite macerals, with cryptotelinite being by far the most common type. Cryptogelocollinite is the second most abundant vitrinite maceral. Inertinite maceral percentages are variable, ranging from 8% to 30% (mmf) and liptinite macerals are a relatively minor constituent of the Mary Lee coal bed (3-8% mmf). Both vertical and lateral changes in coal composition occur along the transect studied. Lateral changes include an increase in ash yield and sulfur content from the interior to margin; for example, the average ash yield and sulfur content at location 073 (most interior) are 13.7% and 0.55%, respectively, whereas at location 083 (most marginal) the average ash and sulfur values (calculated from coal increments only) are 32.3% and 3.62%, respectively. Palynofloral changes, from the interior to margin, include a general increase in Lycospora pusilla (Lepidodendron) over Lycospora pellucida (Lepidophloios) and an increase in fern and calamite spores and cordaite pollen. An increase in poorly preserved miospore assemblages was also observed in this direction. At locations 016 and 026, coal increments between the lower and middle

  15. Surgical treatment of cavus foot in Charcot-Marie-tooth disease: a review of twenty-four cases: AAOS exhibit selection.

    PubMed

    Faldini, Cesare; Traina, Francesco; Nanni, Matteo; Mazzotti, Antonio; Calamelli, Carlotta; Fabbri, Daniele; Pungetti, Camilla; Giannini, Sandro

    2015-03-18

    Charcot-Marie-Tooth disease is the single most common diagnosis associated with cavus foot. The imbalance involving intrinsic and extrinsic muscles has been suggested as the main pathogenetic cause of cavus foot in this disease. The goal of surgical treatment is to correct the deformity to obtain a plantigrade foot. In the presence of a flexible deformity and the absence of degenerative arthritis, preserving as much as possible of the overall range of motion of the foot and ankle is advisable. Twenty-four cavus feet in twelve patients with Charcot-Marie-Tooth disease were included in the study. Clinical evaluation was summarized with the Maryland Foot Score. Radiographic evaluation assessed calcaneal pitch, Meary angle, Hibb angle, and absence of degenerative joint changes. Only patients who had a flexible deformity, with varus of the heel reducible in the Coleman-Andreasi test, and did not have degenerative joint arthritis were included in this study. Surgical treatment consisted in plantar fasciotomy, midtarsal osteotomy, extensor hallucis longus tendon transfer to the first metatarsal (Jones procedure), and dorsiflexion osteotomy of the first metatarsal. Mean follow-up was six years (range, two to thirteen years). The mean Maryland Foot Score was 72 preoperatively and 86 postoperatively. The postoperative result was rated as excellent in twelve feet (50%), good in ten (42%), and fair in two (8%). Mean calcaneal pitch was 34° preoperatively and 24° at the time of the latest follow-up, the mean Hibb angle was 121° preoperatively and 136° postoperatively, and the mean Meary angle was 25° preoperatively and 2° postoperatively. Plantar fasciotomy, midtarsal osteotomy, the Jones procedure, and dorsiflexion osteotomy of the first metatarsal yielded adequate correction of flexible cavus feet in patients with Charcot-Marie-Tooth disease in the absence of fixed hindfoot deformity. The fact that the improvement in the outcome score was only modest may be attributable

  16. Optimization of process parameters by response surface methodology and kinetic modeling for batch production of canthaxanthin by Dietzia maris NIT-D (accession number: HM151403).

    PubMed

    Goswami, Gargi; Chakraborty, Samarprit; Chaudhuri, Surabhi; Dutta, Debjani

    2012-10-01

    Dietzia maris NIT-D, a canthaxanthin producer, was isolated during routine screening of pigment-producing bacteria. Response surface methodology was applied for statistical designing of process parameters for biomass and canthaxanthin production. The effects of four process parameters (considered as independent variables), namely temperature (10-30 °C), pH (4.75-5.75), shaker speed (75-135 rpm) and percentage inoculum (0.5-2.5 %) on the biomass and canthaxanthin yield (considered as dependent variables) were studied. As much as 122 mg L(-1) of canthaxanthin was obtained when Dietzia maris NIT-D was incubated for 120 h at 25 °C and 120 rpm, initial pH and percentage inoculum being 5.5 and 2 % respectively. The pigment yield is the highest reported till date, with Dietzia maris as the test organism. The maximum biomass yield was 7.39 g L(-1) under optimized process parameters. The predicted values were also verified by validation experiments in 5-day fermentation. Different mathematical models were used to describe growth and production, considering the effect of glucose in batch mode. The kinetic constants were calculated by fitting the experimental data to the models. Cell growth was inhibited beyond a glucose concentration of 15 g L(-1). Andrews' model gave the best fit with a R (2) value of 0.9993. During the exponential growth phase, the specific growth rate was found to remain fairly constant with respect to time. There was no inhibitory effect due to intracellular product accumulation for all concentrations of glucose. This observation is the first of its kind, as previous studies have reported that increasing accumulation of intracellular carotenoid exerts greater degree of inhibition on growth.

  17. Orogenesis and Basin Development: U-Pb Detrital Zircon Age Constraints on Evolution of the Late Paleozoic St. Marys Basin, Central Mainland Nova Scotia.

    PubMed

    Murphy; Hamilton

    2000-01-01

    The St. Marys Basin, along the southern flank of the composite Late Paleozoic Magdalen Basin in the Canadian Appalachians and along the Avalon-Meguma terrane boundary, contains Late Devonian-Early Carboniferous continental clastic rocks of the Horton Group that were deposited in fluvial and lacustrine environments after the peak of the Acadian orogeny. SHRIMP II (Geological Survey of Canada) data on approximately 100 detrital zircons from three samples of Horton Group rocks from the St. Marys Basin show that most of the zircons have been involved in a multistage history, recycled from clastic rocks in the adjacent Meguma and Avalonian terranes. Although there is a minor contribution from Early Silurian (411 Ma) and Late Devonian suites (ca. 380-370 Ma), Neoproterozoic (ca. 700-550 Ma) and Paleoproterozoic (ca. 2.0-2.2 Ga) zircon populations predominate, with a minor contribution from ca. 1.0-, 1.2-, and 1.8-Ga zircons. Published U-Pb single-zircon analyses on clastic sedimentary rocks indicate that the Meguma and Avalon terranes have different populations of detrital zircons, sourced from discrete portions (Amazonian and West African cratons) of the ancient Gondwanan margin. Both terranes contain Neoproterozoic and Late Archean populations. The SHRIMP data, in conjunction with published sedimentological and geochemical data, indicate that the Horton Group basin-fill sediments are largely the result of rapid uplift and erosion of Meguma terrane metasedimentary and granitoid rocks immediately to the south of the St. Marys Basin during the waning stages of the Acadian orogeny. Regional syntheses indicate that this uplift occurred before and during deposition and was a consequence of dextral ramping of the Meguma terrane over the Avalon terrane along the southern flank of the Magdalen Basin.

  18. Water resources and potential effects of ground-water development in Maggie, Marys, and Susie Creek basins, Elko and Eureka counties, Nevada

    USGS Publications Warehouse

    Plume, R.W.

    1995-01-01

    The basins of Maggie, Marys, and Susie Creeks in northeastern Nevada are along the Carline trend, an area of large, low-grade gold deposits. Pumping of ground water, mostly for pit dewatering at one of the mines, will reach maximum rates of about 70,000 acre-ft/yr (acre-feet per year) around the year 2000. This pumping is expected to affect ground-water levels, streamflow, and possibly the flow of Carlin spring, which is the water supply for the town of Carlin, Nev. Ground water in the upper Maggie Creek Basin moves from recharge areas in mountain ranges toward the basin axis and discharges as evapotranspiration and as inflow to the stream channel. Ground water in the lower Maggie, Marys, and Susie Creek Basins moves southward from recharge areas in mountain ranges and along the channel of lower Maggie Creek to the discharge area along the Humboldt River. Ground-water underflow between basins is through permeable bedrock of Schroeder Mountain from the upper Maggie Creek Basin to the lower Maggie Creek Basin and through permeable volcanic rocks from lower Maggie Creek to Carlin spring in the Marys Creek Basin. The only source of water to the combined area of the three basins is an estimated 420,000 acre-ft/yr of precipitation. Water leaves as runoff (38,000 acre-ft/yr) and evapotranspiration of soil moisture and ground water (380,000 acre-ft/yr). A small part of annual precipitation (about 25,000 acre-ft/yr) infiltrates the soil zone and becomes ground-water recharge. This ground water eventually is discharged as evapotranspiration (11,000 acre-ft/yr) and as inflow to the Humboldt River channel and nearby springflow (7,000 acre-ft/yr). Total discharge is estimated to be 18,000 acre-ft/yr.

  19. The globalization of naval provisioning: ancient DNA and stable isotope analyses of stored cod from the wreck of the Mary Rose, AD 1545

    PubMed Central

    Hutchinson, William F.; Culling, Mark; Orton, David C.; Hänfling, Bernd; Lawson Handley, Lori; Hamilton-Dyer, Sheila; O'Connell, Tamsin C.; Richards, Michael P.; Barrett, James H.

    2015-01-01

    A comparison of ancient DNA (single-nucleotide polymorphisms) and carbon and nitrogen stable isotope evidence suggests that stored cod provisions recovered from the wreck of the Tudor warship Mary Rose, which sank in the Solent, southern England, in 1545, had been caught in northern and transatlantic waters such as the northern North Sea and the fishing grounds of Iceland and Newfoundland. This discovery, underpinned by control data from archaeological samples of cod bones from potential source regions, illuminates the role of naval provisioning in the early development of extensive sea fisheries, with their long-term economic and ecological impacts. PMID:26473047

  20. Sulfur accumulation in the timbers of King Henry VIII's warship Mary Rose: a pathway in the sulfur cycle of conservation concern.

    PubMed

    Sandström, Magnus; Jalilehvand, Farideh; Damian, Emiliana; Fors, Yvonne; Gelius, Ulrik; Jones, Mark; Salomé, Murielle

    2005-10-04

    In marine-archaeological oak timbers of the Mary Rose large amounts of reduced sulfur compounds abound in lignin-rich parts such as the middle lamella between the cell walls, mostly as thiols and disulfides, whereas iron sulfides and elemental sulfur occur in separate particles. Synchrotron-based x-ray microspectroscopy was used to reveal this environmentally significant accumulation of organosulfur compounds in waterlogged wood. The total concentration of sulfur in reduced forms is approximately 1 mass % throughout the timbers, whereas iron fluctuates up to several mass %. Conservation methods are being developed aiming to control acid-forming oxidation processes by removing the reactive iron sulfides and stabilizing the organosulfur compounds.

  1. Reconciling the shadow of a subduction signature with rift geochemistry and tectonic environment in Eastern Marie Byrd Land, Antarctica

    NASA Astrophysics Data System (ADS)

    LeMasurier, Wesley E.; Choi, Sung Hi; Hart, Stanley R.; Mukasa, Sam; Rogers, Nick

    2016-09-01

    Basalt-trachyte volcanoes in the Marie Byrd Land (MBL) Cenozoic province lie along the Amundsen Sea coast on the north flank of the West Antarctic rift. Basalts here are characterized by OIB-like geochemistry, restricted ranges of 87Sr/86Sr (0.702535-0.703284) and 143Nd/144Nd (0.512839-0.513008) and a wide range of 206Pb/204Pb (19.357-20.934). Basalts at three MBL volcanoes display two anomalies compared with the above and with all other basalts in West Antarctica. They include 143Nd/144Nd (0.512778-0.512789) values at Mt. Takahe and Mt. Siple that are 2σ lower than other West Antarctic basalts, and Ba/Nb, Ba/La, and Ba/Th values at Mt. Murphy and Mt. Takahe that are 3-8 times higher than normal OIB. Isotope and trace element data do not support crustal and lithospheric mantle contamination, or the presence of residual mantle amphibole or phlogopite as explanations of these anomalies. The apparent coincidence of these anomalies with the site of a pre-Cenozoic convergence zone along the Gondwanaland margin suggests a subduction influence. Major episodes of subduction and granitic plutonism took place in MBL during the Devonian, Permian, and Late Cretaceous. Relicts in the source region, of components from these subducted slabs, provide a credible explanation for the uncoupling of Ba from other large ion lithophile elements (LILE), for its erratic distribution, and for the anomalously low 143Nd/144Nd at Mt. Takahe. The last episode of subduction ended 85 Ma, and was followed by continental break-up, rifting and lithospheric attenuation that produced the West Antarctic rift as we know it today. Thus, the enigmatic geochemical signatures in these three volcanoes seem to have been preserved roughly 61-85 m.y. after subduction ended. New calculations of source melting depth and a new determination of lithospheric thickness suggest that the source of the anomalies resides in a fossil mélange diapir that rose from the Cretaceous subducting slab, became attached to the

  2. The Peralkaline Rhyolite Spectrum in Marie Byrd Land Volcanoes, West Antarctic Rift, and the Case for Polybaric Fractionation

    NASA Astrophysics Data System (ADS)

    Lemasurier, W. E.; Choi, S.; Mukasa, S. B.; Rogers, N. W.

    2009-12-01

    The Marie Byrd Land (MBL) volcanic province is associated with the rise of a large tectonomagmatic dome, over the past 25-30 m.y. Since 14-15 Ma, five volcanoes have produced pantellerites and three others have produced comendites. Together they display a range in SiO2, Al2O3, FeOt, and peralkalinity that is comparable with the full range of compositions in Pantelleria and the Kenyan and Ethiopian dome provinces. The comendite volcanoes occur on the east flank of the MBL dome, adjacent to volcanoes characterized by highly undersaturated phonolites (20-30% ne). The pantellerite volcanoes, with one exception, occur on the west flank, associated with less undersaturated phonolites (6-11% ne). These seem to represent two fairly distinct sub-provinces with perhaps slightly different plumbing systems. Isotopic and trace element data, maintenance of isotopic equilibrium throughout the basalt-felsic spectrum, and the results of major and trace element modeling, all exclude crustal contamination and point to fractional crystallization as the controlling process in the origins of the felsic rocks. The availability of basalts in several stages of evolution, plus a variety of mugearites, benmoreites, and trachytes, have allowed us to model the evolution of felsic rocks in several stages. The best results, together with trace element and petrographic data, and supported by experimental work, suggest that polybaric fractionation in a multi-tiered plumbing system provides the most reasonable explanation of field, petrographic and geochemical characteristics. A plumbing system that favors prolonged kaersutite fractionation at the base of the crust for comendites (east flank) vs. one that favors comparatively short residency and little kaersutite fractionation at the base of the crust for pantellerites (west flank), seems to provide the best explanation for the differences in SiO2 and FeOt, and the wide spatial separation of these two rhyolite species. The models suggest further

  3. Reconciling the Shadow of a Subduction Signature with Rift Geochemistry and Tectonic Environment in Eastern Marie Byrd Land, Antarctica

    NASA Astrophysics Data System (ADS)

    LeMasurier, W. E.; Choi, S.

    2013-12-01

    Basalt-trachyte volcanoes in the Marie Byrd Land (MBL) Cenozoic province lie along the Amundsen Sea coast on the north flank of the West Antarctic rift. In the province as a whole, the basalts are characterized by OIB-like geochemistry, restricted ranges of 87Sr/86Sr (0.70254 - 0.70368) and 143Nd/144Nd (0.51286 - 0.51368) and a wide range of 206Pb/204Pb (19.50 - 20.69). Basalts at three volcanoes in central and eastern MBL, of Miocene and Quaternary age, display a variety of geochemical anomalies compared with the above. These include low 143Nd/144Nd (0.51276 - 0.51281), very high Ba (e.g. 1398ppm) associated with low K and low Th, slightly depressed Nb and Ta, and elevated EM2 signatures. These are only erratically displayed, from one volcano to another, and even from one sample locality to another in the same volcano. In some cases, anomalous sample localities lie above or below sample localities with relatively 'normal' characteristics. Furthermore, the whole complement of anomalies is rarely displayed in a single sample. These characteristics suggest a subduction influence, but one that seems to have been filtered, or partly masked. Major episodes of subduction and granite plutonism in MBL took place in the late Devonian, Permian, and late Cretaceous. The last of these ended ~90 Ma, and was followed by continental break-up, rifting and lithospheric attenuation that produced the West Antarctic rift as we know it today. Thus, the enigmatic geochemical signatures in these three volcanoes may have been acquired 80-90 m.y. after subduction ended, and following the subsequent tectonic reorganization to a rift environment. We suspect that the sublithospheric source was heterogeneously and incompletely metasomatized by fluids that originated with slab dewatering during the subduction episodes. Interestingly, pelagic rocks, probably similar to those that were subducted, have geochemical characteristics that seem to be reflected in the geochemical anomalies of the

  4. A Survey of Light Pollution in the Rogue Valley, Southwest Oregon, by St. Mary's School, Medford, Oregon

    NASA Astrophysics Data System (ADS)

    Bensel, Holly; Dorrell, Genna; Feng, James; Hicks, Sean; Mars Liu, Jason; Liu, Steven; Moczygemba, Mitchell; Sheng, Jason; Sternenburg, Leah; Than, Emi; Timmons, Emry; Wen, Jerry; Yaeger, Bella; You, Ruiyang

    2016-01-01

    The Rogue Valley in Southwest Oregon was known for its beautiful dark skies, but due to population growth the dark skies are vanishing. A light pollution chart using Defense Meteorological Satellite Program (DMSP) data was published in 2006, but did not show the spatial variation in detail. In the spring of 2014, the 9th grade physics students, astronomy students, and members of the Astronomy Club from St. Mary's School conducted the first detailed night sky survey. The purpose of the survey is to create a baseline of the variations in light pollution in the Rogue Valley.The project continued into 2015, incorporating suggestions made at the 2014 AAS Conference to improve the study by including more light meter data and community outreach. Students used light meters, Loss of the Night app, and the Dark Sky meter app. Students researched light pollution and its effects on the environment, measured night sky brightness in the Rogue Valley, and completed a light audit in an area of their choice. They created a presentation for a final physics grade. The basis for this project, along with procedures can be found on the GaN, Globe at Night, (www.globeatnight.org) website. The light audit and research portion were developed from the Dark Sky Rangers section of the website (www.globeatnight.org/dsr/).The 2014 survey and public outreach increased awareness of light pollution in the Rogue Valley and around the state of Oregon. Examples include a local senior project to change lighting at a baseball stadium and a 4-H club in Northeast Oregon starting a GaN survey in their area. GaN shows growth in the amount of data collected in Oregon from 8 data points in 2006 to 193 in 2014. The Rogue Valley magnitude data from the spring of 2015 indicates a drop from an average magnitude of 4 to an average magnitude of 2. This is due to hazy skies from smoke drifting into the valley from a Siberian wildfire. Data collection during the summer and fall was hampered due to smoke from local

  5. Water and sediment quality of the Yukon River and its tributaries, from Eagle to St. Marys, Alaska, 2002-2003

    USGS Publications Warehouse

    Dornblaser, Mark M.; Halm, Douglas R.

    2006-01-01

    fixed-site sampling, intensive synoptic sampling of tributaries draining directly into the Yukon River was conducted along its entire length. This report contains observations of water and sediment quality made in the Yukon River basin during the synoptic sampling cruises in years 2002 and 2003. Chemical and biological data are presented for the Yukon River and its major tributaries between the towns of Eagle and St. Marys, Alaska.

  6. Tomographic evidence for recent extension in the Bentley Subglacial Trench and a hotspot beneath Marie Byrd Land

    NASA Astrophysics Data System (ADS)

    Lloyd, A. J.; Wiens, D. A.; Nyblade, A.; Anandakrishnan, S.; Aster, R. C.; Huerta, A. D.; Wilson, T. J.; Shore, P.

    2013-12-01

    Here we present the first regional P and S wave relative velocity models of the upper mantle beneath much of West Antarctica using P and S wave relative travel time residuals from teleseismic events recorded by seismographs from the POLENET/ANET project. 21 of the seismographs form a sparse backbone network co-located with continuously recording GPS stations at rock sites throughout West Antarctica, and 17 stations formed a seismic transect extending from the Whitmore Mountains across the West Antarctic Rift System (WARS) and into Marie Byrd Land (MBL) with a station spacing of 90-100 km. Corrections for heterogeneities above the Moho, including the ice sheet, are applied to the relative travel time residuals using the receiver function models of Chaput et al., [submitted, 2013]. Both P and S wave velocity models indicate velocities faster than the mean of the model beneath the Whitmore Mountains that may be interpreted as thicker, colder lithosphere relative to the rest of West Antarctica. Slow velocity anomalies are observed beneath the Bentley Subglacial Trench (BST) and MBL. Slow velocities extending from the Moho to the transition zone beneath MBL are centered beneath the Mt Sidley volcano and coincide with high topography that is not isostatically supported by the crust [Chaput et al., submitted, 2013]. The slowest velocities occur at 200-300 km depth and are consistent with warm, low viscosity mantle that provides topographic support for the elevated MBL volcanic dome. Poor vertical resolution, typical of body wave tomography, hampers the models ability to resolve whether the anomaly beneath MBL is strictly an upper mantle hotspot or a classic mantle plume that extends into the lower mantle. The shallow (≤ 100 km depth) slow anomaly beneath the BST coincides with a region of thin crust and likely reflects a localized region of Cenozoic extension in the WARS that may have undergone a last phase of extension in the Neogene [Garnot et al., 2013]. Anomalously

  7. Tritium Concentrations in Environmental Samples and Transpiration Rates from the Vicinity of Mary's Branch Creek and Background Areas, Barnwell, South Carolina, 2007-2009

    USGS Publications Warehouse

    Vroblesky, Don A.; Canova, Judy L.; Bradley, Paul M.; Landmeyer, James E.

    2009-01-01

    Tritium in groundwater from a low-level radioactive waste disposal facility near Barnwell, South Carolina, is discharging to Mary's Branch Creek. The U.S. Geological Survey conducted an investigation from 2007 to 2009 to examine the tritium concentration in trees and air samples near the creek and in background areas, in groundwater near the creek, and in surface water from the creek. Tritium was found in trees near the creek, but not in trees from background areas or from sites unlikely to be in direct root contact with tritium-contaminated groundwater. Tritium was found in groundwater near the creek and in the surface water of the creek. Analysis of tree material has the potential to be a useful tool in locating shallow tritium-contaminated groundwater. A tritium concentration of 1.4 million picocuries per liter was measured in shallow groundwater collected near a tulip poplar located in an area of tritium-contaminated groundwater discharge. Evapotranspiration rates from the tree and tritium concentrations in water extracted from tree cores indicate that during the summer, this tulip poplar may remove more than 17.1 million picocuries of tritium per day from the groundwater that otherwise would discharge to Mary's Branch Creek. Analysis of air samples near the tree showed no evidence that the transpirative release of tritium to the air created a vapor hazard in the forest.

  8. Origin of Large Felsic Rock Volumes in Marie Byrd Land Volcanoes:Possible Influence of Tectonic Environment and Continental Lithospheric Structure

    NASA Astrophysics Data System (ADS)

    Lemasurier, W. E.

    2002-12-01

    The Marie Byrd Land volcanic province, in the West Antarctic rift system, includes several volcanoes with large volumes of peralkaline trachyte, phonolite, and rhyolite. The roughly 780 cu. km. of trachyte at Mt. Takahe volcano, for example, is about twice the volume of Mt. Shasta, the largest Cascade volcano.Geochemical data provide evidence for only minor amounts of crustal contamination, affecting just a small proportion of the felsic rocks, hence crustal assimilation is unlikely to have supplemented the volume of felsic rocks. Most appear to have been derived entirely by fractional crystallization of basaltic magma; but the volumes of felsic rock in Marie Byrd Land volcanoes is much larger than is found in their counterparts in oceanic islands, produced by essentially the same process, suggesting that continental structure and/or tectonic environment may have played a role in felsic rock evolution. The absence of Antarctic plate motion, over at least the past 26 m.y., seems an obvious factor. This has apparently led to repeated replenishment of the same magma chambers, rather than formation of linear chains of volcanoes. In addition, modeling results suggest that a multi-level, polybaric plumbing system within the lithosphere has acted as a filter, delaying the rise of at least some large volume magma batches, thereby prolonging and refining the fractionation process.

  9. The First Lady Almoner: The Appointment, Position, and Findings of Miss Mary Stewart at the Royal Free Hospital, 1895–99

    PubMed Central

    Cullen, Lynsey T.

    2013-01-01

    This article examines the professional roots of the hospital almoner, a position which has been widely neglected in medical history. The first almoner was Miss Mary Stewart, a former Charity Organization Society employee, appointed at the Royal Free Hospital of central London in 1895. The Royal Free was a charitable hospital which offered free medical treatment to patients considered morally deserving but unable to afford medical care elsewhere. The role expected of Stewart was to means test patients in order to ensure that only those deemed “appropriate” received free medical treatment, and to establish the extent to which the hospital was being abused by those who could afford to contribute toward their medical care. While in office, Stewart continually reshaped the role of almoner. She fashioned the position into that of a medical social worker and undertook such duties as referring patients to other means of medical and charitable assistance, visiting patients' homes, and training almoners for positions at other voluntary hospitals. Through the examination of Mary Stewart's Almoners Report Book, this article considers the circumstances of her appointment, the role she performed, and the findings of her investigations. PMID:22474098

  10. Lower extremity muscles activity in standing and sitting position with use of sEMG in patients suffering from Charcot-Marie-Tooth syndrome.

    PubMed

    Kuciel, Natalia Maria; Konieczny, Grzegorz Krzysztof; Oleksy, Łukasz; Wrzosek, Zdzisława

    2016-01-01

    There is very limited, evidenced data about movement possibilities in patients with high level of lower limb muscles atrophy and fatigue in patients suffering from Charcot-Marie-Tooth syndrome. Patient (age 46) suffering from Charcot-Marie-Tooth disease for 30 years with multiple movement restrictions and muscles atrophy above knees took part into the study. Tests were performed for 8 muscles of the lower limb and pelvis. Muscles electrical activity was tested in sitting and standing position (for knees extended and hyperextended). In the right leg rectus femoris, vastus lateralis obliquus, gluteus medius and semitendinosus muscles activated at first and were working the longest time. The highest activity was observed in standing position with knees extended. In the left leg rectus femoris and biceps femoris muscles activated at first and biceps femoris was working the longest time. Activity level in left lower limb is much lower than in the right one. Muscles weakness is asymmetric. Left leg is much weaker and engages antagonists and synergists muscles to compensate weaker rectus femoris, vastus medialis obliquus and vastus lateralis obliquus.

  11. The first lady almoner: the appointment, position, and findings of Miss Mary Stewart at the Royal Free Hospital, 1895-99.

    PubMed

    Cullen, Lynsey T

    2013-10-01

    This article examines the professional roots of the hospital almoner, a position which has been widely neglected in medical history. The first almoner was Miss Mary Stewart, a former Charity Organization Society employee, appointed at the Royal Free Hospital of central London in 1895. The Royal Free was a charitable hospital which offered free medical treatment to patients considered morally deserving but unable to afford medical care elsewhere. The role expected of Stewart was to means test patients in order to ensure that only those deemed "appropriate" received free medical treatment, and to establish the extent to which the hospital was being abused by those who could afford to contribute toward their medical care. While in office, Stewart continually reshaped the role of almoner. She fashioned the position into that of a medical social worker and undertook such duties as referring patients to other means of medical and charitable assistance, visiting patients' homes, and training almoners for positions at other voluntary hospitals. Through the examination of Mary Stewart's Almoners Report Book, this article considers the circumstances of her appointment, the role she performed, and the findings of her investigations.

  12. Late Quaternary changes in bat palaeobiodiversity and palaeobiogeography under climatic and anthropogenic pressure: new insights from Marie-Galante, Lesser Antilles

    NASA Astrophysics Data System (ADS)

    Stoetzel, Emmanuelle; Royer, Aurélien; Cochard, David; Lenoble, Arnaud

    2016-07-01

    Data on Lesser Antillean Late Quaternary fossil bat assemblages remains limited, leading to their general exclusion from studies focusing on Caribbean bat palaeobiodiversity and palaeobiogeography. Additionally, the role of climatic versus human pressure driving changes in faunal communities remains poorly understood. Here we describe a fossil bat assemblage from Blanchard Cave on Marie-Galante in the Lesser Antilles, which produced numerous bat remains from a well-dated, stratified context. Our study reveals the occurrence of at least 12 bat species during the Late Pleistocene and Early Holocene on Marie-Galante, whereas only eight species are currently known on the island. Among these 12 species, six are extirpated and one is extinct. Faunal changes within the Blanchard sequence indicate variations in Pleistocene bat species representation in the Lesser Antilles to have been influenced by climatic conditions, with "northern species" (Greater Antilles) favored during glacial conditions and "southern species" (southern Lesser Antilles) during interglacial events. However, few species disappeared at the end of the Late Pleistocene, with most of the extinction/extirpation events occurring during the Holocene. This pattern suggests human activities in the Lesser Antilles to have played a major role in bat turnover during the late Holocene.

  13. A Tribute to Mary C. McKenna: Glutamate as Energy Substrate and Neurotransmitter-Functional Interaction Between Neurons and Astrocytes.

    PubMed

    Schousboe, Arne

    2017-01-01

    Glutamate metabolism in the brain is extremely complex not only involving a large variety of enzymes but also a tight partnership between neurons and astrocytes, the latter cells being in control of de novo synthesis of glutamate. This review provides an account of the processes involved, i.e. pyruvate carboxylation and recycling as well as the glutamate-glutamine cycle, focusing on the many seminal contributions from Dr. Mary McKenna. The ramification of the astrocytic end feet allowing contact and control of hundreds of thousands of synapses at the same time obviously puts these cells in a prominent position to regulate neural activity. Additionally, the astrocytes take active part in the neurotransmission processes by releasing a variety of gliotransmitters including glutamate. Hence, the term "the tripartite synapse", in which there is an active and dynamic interplay between the pre- and post-synaptic neurons and the ensheathing astrocytes, has been coined. The studies of Mary McKenna and her colleagues over several decades have been of paramount importance for the elucidation of compartmentation in astrocytes and synaptic terminals and the intricate metabolic processes underlying the glutamatergic neurotransmission process.

  14. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

    PubMed

    Mathis, Stéphane; Corcia, Philippe; Tazir, Meriem; Camu, William; Magdelaine, Corinne; Latour, Philippe; Biberon, Julien; Guennoc, Anne-Marie; Richard, Laurence; Magy, Laurent; Funalot, Benoît; Vallat, Jean-Michel

    2014-06-01

    Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we report three observations of patients with the 1.4 megabase CMT1A duplication and atypical presentation (electrophysiological, clinical or pathological): a 10 year-old girl with tomaculous lesions on nerve biopsy; a 26 year-old woman with recurrent paresthesiae and block conduction on the electrophysiological study; a 46 year-old woman with transient recurrent nerve palsies mimicking HNPP. These observations highlight the wide spectrum of CMT1A and the overlap between CMT1A and HNPP (both linked to the PMP22 gene), and finally illustrate the complexity of the genotype-phenotype correlations in Charcot-Marie-Tooth diseases.

  15. Before Mary Ellen.

    ERIC Educational Resources Information Center

    Lazoritz, Stephen; Shelman, Eric A.

    1996-01-01

    This historical review recounts the case of Emily Thompson, a New York City child abused in 1871, in which Henry Bergh, an animal rights advocate, intervened. The perpetrator was found guilty but the child was sent back to the same abusive home. The case is seen as seminal in the early history of the child protection movement. (DB)

  16. Private Sector Rehabilitation: Insurance, Trends & Issues for the 21st Century. A Report on the Mary E. Switzer Memorial Seminar (17th, Washington, D.C., June 2-4, 1993).

    ERIC Educational Resources Information Center

    Perlman, Leonard G., Ed.; Hansen, Carl E., Ed.

    This monograph reflects the writings, discussions, and recommendations of the Switzer Scholars at the 16th annual Memorial Seminar. Introductory materials include the following: "A Tribute to Mary E. Switzer"; "Welcome from the National Rehabilitation Association" (Spencer L. Mosley, Ann Ward Tourigny); list of seminar sponsors; "Introduction"…

  17. Emerging Workforce Issues: W.I.A., Ticket To Work, and Partnerships. A Report on the Mary E. Switzer Memorial Seminar (22nd, Lansing, Michigan, September 2000). Switzer Seminar Series.

    ERIC Educational Resources Information Center

    McConnell, L. Robert, Ed.

    This monograph presents information on the Mary E. Switzer Seminars, five major papers concerned with vocational rehabilitation of people with disabilities, two shorter papers, and four invited guest reaction papers. The following major papers are presented: (1) "Toward Researching a National Employment Policy for Persons with…

  18. Private-Sector Social Franchising to Accelerate Family Planning Access, Choice, and Quality: Results From Marie Stopes International

    PubMed Central

    Munroe, Erik; Hayes, Brendan; Taft, Julia

    2015-01-01

    Background: To achieve the global Family Planning 2020 (FP2020) goal of reaching 120 million more women with voluntary family planning services, rapid scale-up of services is needed. Clinical social franchising, a service delivery approach used by Marie Stopes International (MSI) in which small, independent health care businesses are organized into quality-assured networks, provides an opportunity to engage the private sector in improving access to family planning and other health services. Methods: We analyzed MSI’s social franchising program against the 4 intended outputs of access, efficiency, quality, and equity. The analysis used routine service data from social franchising programs in 17 African and Asian countries (2008–2014) to estimate number of clients reached, couple-years of protection (CYPs) provided, and efficiency of services; clinical quality audits of 636 social franchisees from a subset of the 17 countries (2011–2014); and exit interviews with 4,844 clients in 14 countries (2013) to examine client satisfaction, demographics (age and poverty), and prior contraceptive use. The MSI “Impact 2” model was used to estimate population-level outcomes by converting service data into estimated health outcomes. Results: Between 2008 and 2014, an estimated 3,753,065 women cumulatively received voluntary family planning services via 17 national social franchise programs, with a sizable 68% choosing long-acting reversible contraceptives (LARCs). While the number of social franchisee outlets increased over time, efficiency also significantly improved over time, with each outlet delivering, on average, 178 CYPs in 2008 compared with 941 CYPs in 2014 (P = .02). Clinical quality audit scores also significantly improved; 39.8% of social franchisee outlets scored over 80% in 2011 compared with 84.1% in 2014. In 2013, 40.7% of the clients reported they had not been using a modern method during the 3 months prior to their visit (95% CI = 37.4, 44

  19. Polybaric evolution of phonolite, trachyte, and rhyolite volcanoes in Eastern Marie Byrd Land, Antarctica: Controls on peralkalinity and silica saturation

    USGS Publications Warehouse

    LeMasurier, W.E.; Futa, K.; Hole, M.; Kawachi, Y.

    2003-01-01

    In the Marie Byrd Land volcanic province, peralkaline and metaluminous trachytes, phonolites, and rhyolites occur in 18 large shield volcanoes that are closely associated in time and space. They are arrayed radially across an 800 km wide structural dome, with the oldest at the crest and the youngest around the flanks. Several lines of evidence suggest that these rocks evolved via open-system, polybaric fractionation. We have used mass balance modeling of major elements together with trace-element data and mineral chemistry to help explain the evolution of this diverse suite of felsic rocks, which appear to have been generated coevally in isolated magma chambers, and erupted close to each other in patterns related to tectonic uplift and extension within the West Antarctic rift system. Isotopic and trace-element data indicate that this occurred with only minimal crustal contamination. We focus on volcanoes of the Executive Committee Range and Mount Murphy, where we find good representation of basalts and felsic rocks within a small area. Our results suggest that the felsic rocks were derived from basaltic magmas that differentiated at multiple levels during their passage to the surface: first to ferrogabbroic compositions near the base of the lithosphere, then to intermediate compositions near the base of the crust, and finally to felsic compositions in mid- to upper crustal reservoirs. The high-pressure history has been largely masked by low-pressure processes. The best indications of a high-pressure history are the mineral phases in cumulate nodules and their correlation with modeling results, with REE anomalies, and with the composition of an unusual gabbroic intrusion. Silica saturation characteristics are believed to have originated in magma chambers near the base of the crust, via fractionation of variable proportions of kaersutite and plagioclase. Development of peralkalinity in felsic rocks took place in upper crustal reservoirs by fractionating a high ratio

  20. Marie-François Xavier Bichat (1771-1802) and his contributions to the foundations of pathological anatomy and modern medicine.

    PubMed

    Shoja, Mohammadali M; Tubbs, R Shane; Loukas, Marios; Shokouhi, Ghaffar; Ardalan, Mohammad R

    2008-11-20

    Marie-François Xavier Bichat (1771-1802) was a prominent French anatomist during a time of revolution and one of the founders of French scientific medicine. He conducted several experimental studies, which laid the foundation for modern physiology. Based on autopsy findings, Bichat introduced 21 tissues as the basic elements of organs. His name is carried on by several eponyms in anatomy and histology; Bichat's fossa (pterygopalatine fossa), Bichat's protuberance (buccal fat pad), Bichat's foramen (cistern of the vena magna of Galen), Bichat's ligament (lower fasciculus of the posterior sacroiliac ligament), Bichat's fissure (transverse fissure of the brain) and Bichat's tunic (tunica intima vasorum). This paper deals with the life and works of this early pioneer in anatomy and physiology.