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Sample records for palcevskis maris berzins

  1. Society of Mary: Marianists

    ERIC Educational Resources Information Center

    Habjan, John

    2007-01-01

    The Society of Mary's ministry in education needs to be placed in the context of the Marianist family. The Marianist family is comprised of men and women who are religious brothers, sisters, and priests and vowed and non-vowed members of Marianist lay communities. The implementation of the Marianist mission is the result of the collaboration among…

  2. 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 of Anna Magdalena Bach";…

  3. 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.

  4. Whatever Happened to Mary Ellen?

    ERIC Educational Resources Information Center

    Lazoritz, Stephen

    1990-01-01

    The case of Mary Ellen, whose maltreatment as a child began the organized response to child abuse in the United States, is reviewed. The paper emphasizes Mary Ellen's rescue from her stepmother, her life after intervention, and her meaningful and productive life as a wife and mother. (JDD)

  5. Charcot-Marie-Tooth disease

    MedlinePlus

    Charcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and ... Charcot-Marie-Tooth is one of the most common nerve-related disorders passed down through families (inherited). Changes to at least ...

  6. 33 CFR 162.117 - St. Marys River, Sault Ste. Marie, Michigan.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 33 Navigation and Navigable Waters 2 2013-07-01 2013-07-01 false St. Marys River, Sault Ste. Marie... SECURITY (CONTINUED) PORTS AND WATERWAYS SAFETY INLAND WATERWAYS NAVIGATION REGULATIONS § 162.117 St. Marys River, Sault Ste. Marie, Michigan. (a) The area. The waters of the St. Marys River and lower...

  7. 33 CFR 162.117 - St. Marys River, Sault Ste. Marie, Michigan.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 2 2012-07-01 2012-07-01 false St. Marys River, Sault Ste. Marie... SECURITY (CONTINUED) PORTS AND WATERWAYS SAFETY INLAND WATERWAYS NAVIGATION REGULATIONS § 162.117 St. Marys River, Sault Ste. Marie, Michigan. (a) The area. The waters of the St. Marys River and lower...

  8. 33 CFR 162.117 - St. Marys River, Sault Ste. Marie, Michigan.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 33 Navigation and Navigable Waters 2 2014-07-01 2014-07-01 false St. Marys River, Sault Ste. Marie... SECURITY (CONTINUED) PORTS AND WATERWAYS SAFETY INLAND WATERWAYS NAVIGATION REGULATIONS § 162.117 St. Marys River, Sault Ste. Marie, Michigan. (a) The area. The waters of the St. Marys River and lower...

  9. AN ELECTRICAL HAIL MARY.

    PubMed

    Neubert, David

    2016-05-01

    Double sequential defibrillation is currently being employed in a number of EMS systems across the United States, including Wake County, N.C.; Fort Worth, Texas; and New Orleans. Even though there isn't a large body of literature surrounding this technique, it's been demonstrated successful in the electrophysiology lab, ED and prehospital settings. Since access to procainamide--another treatment for refractory v fib--is limited, this may be the only available option when faced with a patient who's failed standard ACLS defibrillation and medication administration. It's an intervention that has little chance to do harm, and it may represent the "hail Mary" pass to a successful ROSC touchdown. PMID:27301098

  10. Cape St. Mary

    NASA Technical Reports Server (NTRS)

    2007-01-01

    Another of the best examples of spectacular cross-bedding in Victoria crater are the outcrops at Cape St. Mary, which is an approximately 15 m (45 foot) high promontory located along the western rim of Victoria crater and near the beginning of the rover's traverse around the rim. Like the Cape St. Vincent images, these Pancam super-resolution images have allowed scientists to discern that the rocks at Victoria Crater once represented a large dune field that migrated across this region.

    This is a Mars Exploration Rover Opportunity Panoramic Camera image mosaic acquired on sol 1213 (June 23, 2007), and was constructed from a mathematical combination of 32 different blue filter (480 nm) images.

  11. Marie-unna hereditary hypotrichosis.

    PubMed

    Srinivas, Sahana M; Hiremagalore, Ravi

    2014-10-01

    Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty. We report a 12-year-old male child with characteristic clinical features suggestive of hereditary hypotrichosis of Marie-Unna type. PMID:25368478

  12. 75 FR 38718 - Safety Zone; Sault Sainte Marie 4th of July Fireworks, St. Mary's River, Sault Sainte Marie, MI

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-06

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Sault Sainte Marie 4th of July Fireworks... the Sault Sainte Marie 4th of July Fireworks display, July ] 4, 2010. This temporary safety zone is... with the Sault Sainte Marie 4th of July Fireworks display. The fireworks display is planned to...

  13. Mary Tape, An Outspoken Woman. Primary Source.

    ERIC Educational Resources Information Center

    OAH Magazine of History, 2001

    2001-01-01

    Provides reproductions of primary documents pertaining to Mary Tape, a Chinese immigrant in San Francisco who fought to have her children admitted to public school, including a letter from Mary Tape to the Board of Education and an article about Mary Tape that appeared in the "Morning Call" (23 November 1892). (CMK)

  14. 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…

  15. 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 ...

  16. Mount St. Mary's College. Exemplars.

    ERIC Educational Resources Information Center

    Iannozzi, Maria

    This report describes the efforts of Mount St. Mary's College (California) to extend the benefits of a strong, traditional baccalaureate program to an underserved population of women in an urban region, including substantial numbers of minority and first-generation college students. To help realize its service mission and increase access to…

  17. The Displacement of Mary Jones.

    ERIC Educational Resources Information Center

    McCaslin, Sharon

    1990-01-01

    Describes the experiences of Mary Jones as librarian at the University of Nebraska (1892-97), her resignation attributed to sex discrimination, the impact of her resignation on the library, and her subsequent positions at the University of Illinois, University of Iowa, and Los Angeles Public Library. A sidebar discusses women's career paths in the…

  18. Theresa Marie Schiavo's Long Road to Peace

    ERIC Educational Resources Information Center

    Cerminara, Kathy L.

    2006-01-01

    The death of Theresa Marie Schiavo came about only after almost 7 years of argument among her family members. Her husband, Michael Schiavo, was convinced that she would have refused the medically supplied nutrition and hydration maintaining her life. Her parents, Robert and Mary Schindler, and her siblings were equally convinced that her condition…

  19. 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…

  20. Charcot-Marie-Tooth disease

    PubMed Central

    Sivera, Rafael; Vílchez, Juan Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vázquez, Juan Francisco; Muelas, Nuria; Bataller, Luis; Millán, José María; Palau, Fancesc; Espinós, Carmen

    2013-01-01

    Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among the genetic subgroups. Results: Molecular diagnosis was accomplished in 365 of 438 patients (83.3%), with a higher success rate in demyelinating forms of the disease. The CMT1A duplication (PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1 gene (15.3%), and in the GDAP1 gene (11.5%). Mutations in 13 other genes were identified, but were much less frequent. Sixteen novel mutations were detected and characterized phenotypically. Conclusions: The relatively high frequency of GDAP1 mutations, coupled with the scarceness of MFN2 mutations (1.1%) and the high proportion of recessive inheritance (11.6%) in this series exemplify the particularity of the genetic distribution of Charcot-Marie-Tooth disease in this region. PMID:24078732

  1. 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.

  2. 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.

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

    ERIC Educational Resources Information Center

    Surlin, Stuart H.; Maloof, Mary C.

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

  4. Charcot-Marie-Tooth disease

    PubMed Central

    Manganelli, Fiore; Nolano, Maria; Pisciotta, Chiara; Provitera, Vincenzo; Fabrizi, Gian M.; Cavallaro, Tiziana; Stancanelli, Annamaria; Caporaso, Giuseppe; Shy, Michael E.

    2015-01-01

    Objective: To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes. Methods: We investigated axonal loss by quantifying Meissner corpuscles and intrapapillary myelinated endings and evaluated morphometric changes in myelinated dermal nerve fibers by measuring fiber caliber, internodal, and nodal gap length. Results: The density of both Meissner corpuscles and intrapapillary myelinated endings was reduced in skin samples from patients with CMT1A and all the other CMT genotypes. Nodal gaps were larger in all the CMT genotypes though widening was greater in CMT1A. Perhaps an altered communication between axons and glia may be a common feature for multiple forms of CMT. Internodal lengths were shorter in all the CMT genotypes, and patients with CMT1A had the shortest internodes of all our patients. The uniformly shortened internodes in all the CMT genotypes suggest that mutations in both myelin and axon genes may developmentally impede internode formation. The extent of internodal shortening and nodal gap widening are likely both important in determining nerve conduction velocities in CMT. Conclusions: This study extends the information gained from skin biopsies on morphologic abnormalities in various forms of CMT and provides insights into potential pathomechanisms of axonal and demyelinating CMT. PMID:26362287

  5. 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

  6. 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.

  7. 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…

  8. 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…

  9. 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 emancipation based on a…

  10. 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,…

  11. 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…

  12. 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. PMID:26592080

  13. MARIE Results: Implications for a Mars Mission

    NASA Astrophysics Data System (ADS)

    Zeitlin, C.; Cucinotta, F.; Cleghorn, T.

    The MARIE instrument onboard the 2001 Mars Odyssey spacecraft operated in Mars orbit from March 13, 2002, and October 28, 2003. The time period matches fairly well with the expected duration of a surface stay for NASA's present design for a crewed Mars mission. Based on MARIE data and model calculations using the NASA-JSC transport code HZETRN, it is expected that a crewmember on a mission of 1000 days duration would receive a dose equivalent of about 800 mSv from the Galactic Cosmic Radiation. The dose equivalent is received at a higher rate during the transits from Earth to Mars and back than it is on the surface. The major reason for this is that, in free space, radiation impinges from all directions, whereas on the surface of a planet (or other large body), half of the solid angle is shielded by the planet, resulting in a factor of two dose reduction. During the stay on Mars, additional shielding -- particularly against Solar Particle Events (SPE) -- will be provided by the Martian atmosphere. The contribution to total dose equivalent from SPE is unpredictable. During the period in which MARIE data were obtained, the solar cycle was declining from the 2001 maximum, and several SPEs were observed. Averaged by month, SPE contributions to dose equivalent were as high as 30% of the total, with some months being entirely free of SPEs. Even the maximum 30% increase is almost certainly an overestimate of what would be experienced by an actual crew, since MARIE is far less shielded (by design) than an interplanetary spacecraft would be. This does not preclude the possibility of SPEs with a ``harder'' energy spectrum, in which high fluxes of very penetrating particles can be produced. Though rare, such events have been observed, and must be considered when designing the spacecraft and its shielding properties. In addition to the MARIE data, we will also discuss the state of research on the biological effects of heavy ion irradiation. An active program is underway at the

  14. 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 ...

  15. 33 CFR 117.653 - St. Mary's Falls Canal.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 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 of the International Railway bridge, mile...

  16. 33 CFR 117.653 - St. Mary's Falls Canal.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 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 of the International Railway bridge, mile...

  17. 1. Photocopied August 1978. GENERAL VIEW OF THE ST. MARY'S ...

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

    1. Photocopied August 1978. GENERAL VIEW OF THE ST. MARY'S RAPIDS AND THE INTERNATIONAL BRIDGE, C. 1910. THE OLD CHANDLER-DUNBAR (GOVERNMENT) HYDROELECTRIC PLANT IS VISIBLE ON THE LEFT. (573) - Michigan Lake Superior Power Company, Portage Street, Sault Ste. Marie, Chippewa County, MI

  18. 33 CFR 117.373 - St. Marys River.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false St. Marys River. 117.373 Section 117.373 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Georgia § 117.373 St. Marys River. See § 117.329,...

  19. 33 CFR 117.373 - St. Marys River.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false St. Marys River. 117.373 Section 117.373 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Georgia § 117.373 St. Marys River. See § 117.329,...

  20. 33 CFR 117.373 - St. Marys River.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false St. Marys River. 117.373 Section 117.373 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Georgia § 117.373 St. Marys River. See § 117.329,...

  1. 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.

  2. 75 FR 23589 - Safety Zones; Blasting Operations and Movement of Explosives, St. Marys River, Sault Sainte Marie...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-04

    ... Explosives, St. Marys River, Sault Sainte Marie, MI AGENCY: Coast Guard, DHS. ACTION: Temporary final rule... effective with actual notice for purposes of enforcement beginning 5 a.m. April 23, 2010 through 10 p.m... 5 p.m., Monday through Friday, except Federal holidays. FOR FURTHER INFORMATION CONTACT: If you...

  3. 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

  4. 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. PMID:15749150

  5. Update on Charcot-Marie-Tooth Disease

    PubMed Central

    Patzkó, Ágnes; Shy, Michael E.

    2011-01-01

    Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. CMT results from mutations in more than 40 genes expressed in Schwann cells and neurons causing overlapping phenotypes. The classic CMT phenotype reflects length-dependent axonal degeneration characterized by distal sensory loss and weakness, deep tendon reflex abnormalities, and skeletal deformities. Recent articles have provided insight into the molecular pathogenesis of CMT, which, for the first time, suggest potential therapeutic targets. Although there are currently no effective medications for CMT, multiple clinical trials are ongoing or being planned. This review will focus on the underlying pathomechanisms and diagnostic approaches of CMT and discuss the emerging therapeutic strategies. PMID:21080241

  6. Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine

    MedlinePlus

    ... Issues Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine Past Issues / Winter 2007 Table of Contents For ... Javascript on. Among those attending the NIH MedlinePlus magazine launch on Capitol Hill were (l-r) NIH ...

  7. 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.

  8. 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...

  9. 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.

  10. 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)

  11. 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)

  12. 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

  13. MACKINAW UNDERWAY ON MARCH 21, 1994, FROM SAULTE SAINTE MARIE ...

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

    MACKINAW UNDERWAY ON MARCH 21, 1994, FROM SAULTE SAINTE MARIE TO WHITEFISH BAY AND BACK; LOOKING AFT FROM BRIDGE WING, FIRST DAY OF BREAK UP OF SHIPPING CHANNEL - U.S. Coast Guard Icebreaker Mackinaw, Cheboygan, Cheboygan County, MI

  14. The sad and tragic life of Typhoid Mary.

    PubMed

    Brooks, J

    1996-03-15

    As society grapples with contemporary moral questions raised by the barring of HIV-infected people from jobs and even crossing some national borders, it is probably useful to re-examine the case of Typhoid Mary. The case of Mary Mallon shows how an earlier age resolved the conflict that arises when society's right to protect itself from unnecessary exposure to disease impinges on the liberty of individual citizens. PMID:8634973

  15. The sad and tragic life of Typhoid Mary.

    PubMed Central

    Brooks, J

    1996-01-01

    As society grapples with contemporary moral questions raised by the barring of HIV-infected people from jobs and even crossing some national borders, it is probably useful to re-examine the case of Typhoid Mary. The case of Mary Mallon shows how an earlier age resolved the conflict that arises when society's right to protect itself from unnecessary exposure to disease impinges on the liberty of individual citizens. PMID:8634973

  16. Cholangicarcinoma Presenting as a Sister Mary Joseph Nodule

    PubMed Central

    Rangegowda, Devaraja; Vyas, Tanmay; Grover, Shrruti; Joshi, YK; Sharma, Chhagan; Sahney, Amrish

    2016-01-01

    Sister Mary Joseph nodules represent metastatic cancer of the umbilicus. More than half of these cases are attributable to gastrointestinal malignancies including gastric, colonic, and pancreatic cancer. In addition, gynecologic (ovarian, uterine cancer), unknown primary tumors, and, rarely, bladder or respiratory malignancies may cause umbilical metastasis. We report the case of a Sister Mary Joseph nodule originating from a hilar cholangiocarcinoma. Umbilical nodules should prompt clinical evaluation, as these tumors are usually associated with poor prognosis. PMID:27144207

  17. 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.

  18. 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.

  19. [Rehabilitation of Charcot-Marie-Tooth Disease].

    PubMed

    Tajima, Fumihiro; Nakamura, Takeshi; Nishimura, Yukihide; Arakawa, Hideki; Kawasaki, Takashi; Ogawa, Takahiro; Nishiyama, Kazunari

    2016-01-01

    Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neuromuscular diseases causing progressive muscle weakness; contracture; deformity in the feet, legs, and hands; and impairments of ambulation and handgrip. Reduced physical ability can be attributed not only to the disease but also to physical deconditioning. Previously, most physicians in the field of rehabilitation were anxious about the hypothesis of overwork weakness in CMT, and did not conduct intensive exercise programs for patients with CMT. However, recent studies have reported that progressive resistance strengthening programs for lower extremities are feasible, safe, beneficial, and improve exercise intolerance and undue fatigue in patients with CMT. Although the improvement in exercise tolerance may be partly due to the reversal of deconditioning effect of related sedentary lifestyle, progressive resistance training and physical fitness can improve walking function, activities of daily living, and subjective perception of pain and fatigue in patients with CMT. To increase the daily physical function, some studies described the potential benefits of ankle-foot orthoses (AFOs); however, no control study supported it. So far, the training programs on CMT have been dependent on the exercise programs for able-bodied individuals. To increase the effects of rehabilitation, optimal programs that combine the training protocol and AFO strategies will have to be designed for patients with CMT. PMID:26764300

  20. [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. PMID:26764296

  1. Soils of Marie Byrd Land, West Antarctica

    NASA Astrophysics Data System (ADS)

    Lupachev, A. V.; Abakumov, E. V.

    2013-10-01

    Soils of Marie Byrd Land-one of the remotest and difficultly accessible regions of Antarctica-were investigated in the area of the mothballed Russkaya station located to the south of 74° S. Despite the extremely severe wind regime (the average wind velocity is 13 m/s, and the maximum wind velocity is up to 60 m/s), the projective cover of vegetation in the area of the station averages 25-40% and reaches 60-80% in some places. The phenomena of physical weathering of the bedrock-exfoliation, stone pavements, residual rocks exposed by wind (hoodoos), and others-are clearly manifested. In most of the described soils, normal organic and organomineral horizons are absent. The soil profiles represent the mixture of the residues of mosses and lichens and the gravelly eluvium. The fine earth material is blown out of the surface horizons by strong winds; its residual accumulation takes place in the middle and lower parts of the profiles. The classification position of these soils is open to argument; they are close to Petrozems and Lithozems. Most of the profiles are underlain by the massive or slightly disintegrated bedrock with dry permafrost at a depth of 20 to 50 cm. Soils with dry permafrost comprise about 75% of the surveyed area. In separate loci in the depressions of the local mesorelief and on gentle slopes, the soils with clearly expressed cryoturbation features are developed; their profiles are underlain by the ice-rich permafrost and compose about 15% of the surveyed area. Anthropogenically disturbed soils and soils polluted with petroleum hydrocarbons, heavy metals, and other pollutants occupy about 10% of the surveyed area.

  2. 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.

  3. 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.

  4. Sister Mary Joseph nodule-A case report with review of literature

    PubMed Central

    Dar, Ishrat Hussain; Kamili, Mqtasid Ahmed; Dar, Showkat Hussain; Kuchaai, Faiz Ahmed

    2009-01-01

    Sister Mary Joseph nodule or Sister Mary Joseph Sign refers to a palpable nodule bulging into the umbilicus as a result of metastasis of a malignant cancer in the pelvis or abdomen. A rare case of Sister Mary Joseph nodule, manifesting as ascites, cachexia and bleeding per rectum, is presented without any primary tumor despite extensive search for the same. PMID:21772912

  5. 33 CFR 161.45 - Vessel Traffic Service St. Marys River.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 2 2012-07-01 2012-07-01 false Vessel Traffic Service St. Marys... Movement Reporting System Areas and Reporting Points § 161.45 Vessel Traffic Service St. Marys River. (a) The VTS area consists of the navigable waters of the St. Marys River and lower Whitefish Bay from...

  6. 33 CFR 161.45 - Vessel Traffic Service St. Marys River.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 33 Navigation and Navigable Waters 2 2014-07-01 2014-07-01 false Vessel Traffic Service St. Marys... Movement Reporting System Areas and Reporting Points § 161.45 Vessel Traffic Service St. Marys River. (a) The VTS area consists of the navigable waters of the St. Marys River and lower Whitefish Bay from...

  7. 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... Movement Reporting System Areas and Reporting Points § 161.45 Vessel Traffic Service St. Marys River. (a) The VTS area consists of the navigable waters of the St. Marys River and lower Whitefish Bay from...

  8. 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 "Post" were special…

  9. Restructuring the system will benefit all. Interview by Mary Grayson.

    PubMed

    Roberts, C C

    1992-08-20

    Carolyn Roberts, president and CEO of Copley Health Systems Inc., Morrisville, VT, is the new chairman-elect designate of the American Hospital Association. In an exclusive interview with Hospitals Editor Mary Grayson, she shares her perspectives on health care reform, restructuring the delivery system, and the role of trustees. PMID:1644407

  10. 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)

  11. Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine

    MedlinePlus

    ... Javascript on. Among those attending the NIH MedlinePlus magazine launch on Capitol Hill were (l-r) NIH Director Dr. Elias Zerhouni, Rep. Ralph Regula (R-OH), Mary Tyler Moore, former Rep. Paul Rogers, and NLM ... issue of NIH MedlinePlus magazine. In September, the FNLM was fortunate to have ...

  12. 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…

  13. SOURCE WATER CONTROL WITHIN THE MARY MURPHY MINE

    EPA Science Inventory

    The Mary Murphy mine is located in Chaffee County, Colorado, approximately 12 miles southwest from Buena Vista in the San Isabel National Forest.. The mine drains water from multiple portals into Chalk Creek; this mine water contains elevated levels of zinc and cadmium which exce...

  14. 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.

  15. 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

  16. Mary Edwards Walker: the soul ahead of her time.

    PubMed

    Rehman, Atiq; Rahman, Naba G; Harris, Sharon M; Cheema, Faisal H

    2015-02-01

    Mary Edwards Walker was a gallant woman who stood for women's rights, embodied the true American spirit, and served the Union Army in the Civil War as a surgeon. She later became the first and only woman in United States history to be awarded the Congressional Medal of Honor. PMID:25535874

  17. 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…

  18. 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…

  19. 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)

  20. 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 making of…

  1. 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 Missouri,…

  2. 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…

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

    ERIC Educational Resources Information Center

    Sinclair, Anne

    2004-01-01

    In her response to Mary Reichling's article "Intersections: Form, Feeling, and Isomorphism, Anne Sinclair believes that the exploration of form, feeling, and isomorphism in the writings of Susanne Langer accomplishes its goal to examine and elucidate aspects of these concepts. Sinclair finds several of the ideas presented very engaging. Musical…

  4. Agnes Mary Clerke: Ever-popular historian of astronomy

    NASA Astrophysics Data System (ADS)

    Brück, M.

    In her day, Agnes Mary Clerke (1842-1907) was the English-speaking world's most highly regarded writer on the rapidly developing science of astrophysics. This account outlines how, without any formal education but with a deep interest in learning, this remarkable woman rose to the admired position she still holds as a leading historian of astronomy and astrophysics.

  5. Mary Lyon and Mount Holyoke. Opening the Gates.

    ERIC Educational Resources Information Center

    Green, Elizabeth Alden

    The efforts of Mary Lyon, virtually singlehandedly, to raise money, recruit students, and plan the academic development of Mount Holyoke Female Seminary, founded in 1837, are detailed in this book. The founder sought to educate women through rigorous application of the intellect, which she believed to lead to salvation. In doing so she…

  6. 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…

  7. 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…

  8. 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

  9. Charcot Marie Tooth disease (CMT): historical perspectives and evolution.

    PubMed

    Kazamel, Mohamed; Boes, Christopher J

    2015-01-01

    Prior to Charcot and Marie's and Tooth's reports, patients with peroneal muscular atrophy had been described by Virchow, Eulenburg, Friedreich, Osler, and others. In February 1886, Charcot and Marie published their original description of five patients who had what they called Progressive Muscular Atrophy. They surmised that the lesion could be in the spinal cord. Three months later, Tooth presented his M.D. degree thesis entitled "Peroneal Type of Progressive Muscular Atrophy", to the University of Cambridge, UK. Tooth localized the pathology to the peripheral nerves. Dyck and Lambert (Arch Neurol 18:619-625, 1968) classified several CMT kinships based on differences in modes of inheritance, natural history, biochemical features, nerve conduction velocity, and pathologic characteristics. This article will focus on historical landmarks and major discoveries pertinent to the disease since its original description through the second half of the twentieth century. PMID:25201224

  10. 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.

  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. PMID:26502660

  12. 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

  13. 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. PMID:27363420

  14. 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

  15. 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. PMID:24960874

  16. 33 CFR 207.440 - St. Marys Falls Canal and Locks, Mich.; use, administration, and navigation.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 33 Navigation and Navigable Waters 3 2013-07-01 2013-07-01 false St. Marys Falls Canal and Locks, Mich.; use, administration, and navigation. 207.440 Section 207.440 Navigation and Navigable Waters CORPS OF ENGINEERS, DEPARTMENT OF THE ARMY, DEPARTMENT OF DEFENSE NAVIGATION REGULATIONS § 207.440 St. Marys Falls Canal and Locks, Mich.;...

  17. 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...

  18. 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. PMID:25092060

  19. 33 CFR 161.45 - Vessel Traffic Service St. Marys River.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 2 2011-07-01 2011-07-01 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....

  20. 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...

  1. "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.…

  2. 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 1970-7 American…

  3. "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…

  4. 78 FR 38001 - Special Local Regulations; Marine Events, Breton Bay; St. Mary's County, Leonardtown, MD

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-25

    ...; St. Mary's County, Leonardtown, MD'' in the Federal Register (78 FR 21864). The rulemaking concerned... Breton Bay, in St. Mary's County, MD, effective from 8 a.m. on July 13, 2013 to 5 p.m. on July 14, 2013... SECURITY Coast Guard 33 CFR Part 100 RIN 1625-AA08 Special Local Regulations; Marine Events, Breton Bay;...

  5. 33 CFR 207.441 - St. Marys Falls Canal and Locks, Mich.; security.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... material. Cleaning and gas freeing of tanks on all hazardous material cargo vessels (as defined in 49 CFR... 33 Navigation and Navigable Waters 3 2013-07-01 2013-07-01 false St. Marys Falls Canal and Locks... OF THE ARMY, DEPARTMENT OF DEFENSE NAVIGATION REGULATIONS § 207.441 St. Marys Falls Canal and...

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

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... material. Cleaning and gas freeing of tanks on all hazardous material cargo vessels (as defined in 49 CFR... 33 Navigation and Navigable Waters 3 2014-07-01 2014-07-01 false St. Marys Falls Canal and Locks... OF THE ARMY, DEPARTMENT OF DEFENSE NAVIGATION REGULATIONS § 207.441 St. Marys Falls Canal and...

  7. 33 CFR 117.261 - Atlantic Intracoastal Waterway from St. Marys River to Key Largo.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ...) Editorial Note: For Federal Register citations affecting § 117.261, see the List of CFR Sections Affected... from St. Marys River to Key Largo. 117.261 Section 117.261 Navigation and Navigable Waters COAST GUARD....261 Atlantic Intracoastal Waterway from St. Marys River to Key Largo. (a) General. Public vessels...

  8. 33 CFR 117.261 - Atlantic Intracoastal Waterway from St. Marys River to Key Largo.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... List of CFR Sections Affected, which appears in the Finding Aids section of the printed volume and at... from St. Marys River to Key Largo. 117.261 Section 117.261 Navigation and Navigable Waters COAST GUARD....261 Atlantic Intracoastal Waterway from St. Marys River to Key Largo. (a) General. Public vessels...

  9. 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... Friday, except Federal holidays the draw need open only at 7 a.m., 8 a.m. and 5:30 p.m. (c)...

  10. 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... Friday, except Federal holidays the draw need open only at 7 a.m., 8 a.m. and 5:30 p.m. (c)...

  11. 75 FR 51945 - Safety Zone; Potomac River, St. Mary's River, St. Inigoes, MD

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-24

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Potomac River, St. Mary's River, St... establishing a temporary safety zone upon specified waters of the St. Mary's River, a tributary of the Potomac... pyrotechnic flare exercises launched from a U.S. Navy helicopter located near St. Inigoes, Maryland....

  12. 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.

  13. A space radiation shielding model of the Martian radiationenvironment experiment (MARIE)

    SciTech Connect

    Atwell, William; Saganti, Premkumar; Cucinotta, Francis A.; Zeitlin, Cary J.

    2004-12-01

    The 2001 Mars Odyssey spacecraft was launched towards Mars on April 7, 2001. On board 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.

  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. PMID:15791735

  15. 76 FR 21677 - Safety Zones; Annual Events Requiring Safety Zones in the Captain of the Port Sault Sainte Marie...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-18

    ..., 2008, issue of the Federal Register (73 FR 3316). Public Meeting We do not now plan to hold a public... Sainte Marie, MI: (i) Location. All U.S. navigable waters of the St. Marys River within a 750-foot radius... St. Marys River within a 1200-foot radius from the fireworks launch site, centered approximately...

  16. Draft Genome Sequence of Dietzia maris DSM 43672, a Gram-Positive Bacterium of the Mycolata Group

    PubMed Central

    Ganguly, Sonalli; Jimenez-Galisteo, Guadalupe; Pletzer, Daniel; Winterhalter, Mathias; Benz, Roland

    2016-01-01

    Here, we report the draft genome sequence of Dietzia maris, known previously as Rhodococcus maris. It is 3,505,372 bp in size with a G+C content of 73%. The draft genome sequence will improve our understanding of Dietzia maris related to other mycolata species and constitutes a basic tool for exploring the cell wall proteins. PMID:27284155

  17. Draft Genome Sequence of Dietzia maris DSM 43672, a Gram-Positive Bacterium of the Mycolata Group.

    PubMed

    Ganguly, Sonalli; Jimenez-Galisteo, Guadalupe; Pletzer, Daniel; Winterhalter, Mathias; Benz, Roland; Viñas, Miguel

    2016-01-01

    Here, we report the draft genome sequence of Dietzia maris, known previously as Rhodococcus maris It is 3,505,372 bp in size with a G+C content of 73%. The draft genome sequence will improve our understanding of Dietzia maris related to other mycolata species and constitutes a basic tool for exploring the cell wall proteins. PMID:27284155

  18. 46 CFR 401.410 - Basic rates and charges on Lakes Huron, Michigan and Superior and the St. Mary's River.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... CFR Sections Affected, which appears in the Finding Aids section of the printed volume and on GPO... Steel Corporation Wharf at Sault Ste. Marie Ontario 2,559 $964 N/A Any point in Sault Ste. Marie, Ontario, except the Algoma Steel Corporation Wharf 2,145 964 N/A Sault Ste. Marie, MI 2,145 964 N/A...

  19. "What an Affliction": Mary Todd Lincoln's Fatal Pernicious Anemia.

    PubMed

    Sotos, John G

    2015-01-01

    To date, no single diagnosis has unified the psychiatric illness and the numerous poorly defined physical complaints that Mary Lincoln (née Todd, 1818-1882) suffered in adulthood. Here, I show that her physical ailments spanned 30 years and included sore mouth, pallor, paresthesias, the Lhermitte symptom, fever, headaches, fatigue, resting tachycardia, edema, episodic weight loss, progressive weakness, ataxia, and visual impairment. Long thought hypochondriacal, these findings, plus their time course and her psychopathology (irritability, delusions, hallucinations, with preserved clarity), are all consistent with vitamin B12 deficiency. Pernicious anemia most probably caused this deficiency: she lacked risk factors for other causes, and her consanguineous parents both derived from a region of Scotland having a high incidence of pernicious anemia. A diagnosis of chronic multisystem pernicious anemia would clarify the conduct of Mary Lincoln as First Lady and widow, and illuminate challenges faced by her husband, President Abraham Lincoln. Her case highlights many forgotten features of the natural history of untreated pernicious anemia and is unique in the medical literature in demonstrating such a course extending over a lifetime. PMID:27397049

  20. 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.

  1. Mary Riddoch (1901-1966), an extraordinary tale of survival.

    PubMed

    Riddoch, G; Silver, J R; Weiner, M-F

    2016-12-01

    In 1934 Mary Riddoch sustained a traumatic spinal injury as a result of a road traffic accident. Although a few surviving servicemen from the First World War have been recorded, this is the first account of a female paraplegic patient surviving a traumatic spinal injury. Her personal circumstances greatly contributed to her long survival: she was a qualified doctor, she was the sister of George Riddoch the neurologist who treated soldiers who had sustained spinal cord injuries during the First World War, and she was fortunate to have benefited from the dedicated care of nurse Dorothy Fiddes. Her great-nephew, Graeme Riddoch, is one of the authors of this paper and his recollections provide a unique perspective to this case report. PMID:27092370

  2. MaRIE: an experimental facility concept revolutionizing materials in extremes

    SciTech Connect

    Barnes, Cris W

    2011-01-07

    The Matter-Radiation Interactions in Extremes (MaRIE) project intends to create an experimental facility that will revolutionize the control of materials in extremes. That control extends to extreme regimes where solid material has failed and begins to flow - the regimes of fluid dynamics and turbulent mixing. This presentation introduces the MaRIE facility concept, demonstrates examples of the science case that determine its functional requirements, and kicks-off the discussion of the decadal scientific challenges of mixing in extremes, including those MaRIE might address.

  3. Mary Seacole: self taught nurse and heroine of the Crimean War.

    PubMed

    Harold, Ellis

    2009-09-01

    Mary Jane Seacole was born Mary Grant in Kingston Jamaica in 1805. Her father was a Scottish army officer and her mother a free Jamaican black, (slavery was not fully abolished in Jamaica until 1838). Her mother ran a hotel, Blundell Hall, in Kingston and was a traditional healer. Her skill as a nurse was much appreciated, as many of her residents were disabled British soldiers and sailors. It was from her mother that Mary learned the art of patient care, and she also assisted at the local British army hospital. PMID:19842522

  4. 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. PMID:12774712

  5. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

    PubMed

    Motley, William W; Palaima, Paulius; Yum, Sabrina W; Gonzalez, Michael A; Tao, Feifei; Wanschitz, Julia V; Strickland, Alleene V; Löscher, Wolfgang N; De Vriendt, Els; Koppi, Stefan; Medne, Livija; Janecke, Andreas R; Jordanova, Albena; Zuchner, Stephan; Scherer, Steven S

    2016-06-01

    We performed whole exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot-Marie-Tooth disease and identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1. PMID:27009151

  6. A Poem Is a House for Words: NCTE Profiles Mary Ann Hoberman

    ERIC Educational Resources Information Center

    McClure, Amy A.; Ernst, Shirley B.

    2004-01-01

    A profile of Mary Ann Hoberman, the 13th winner of the NCTE Award for Excellence in Poetry for Children is given. She uses poetic techniques in innovative ways, yet her poems are very accessible to young children.

  7. Patient Identification of the Symptomatic Impact of Charcot Marie Tooth Disease Type 1A

    PubMed Central

    Johnson, Nicholas E; Heatwole, Chad R.; Ferguson, Michele; Sowden, Janet E.; Jeanat, Shanie; Herrmann, David N.

    2013-01-01

    Objective The burden of Charcot Marie Tooth type 1A, the most common inherited peripheral neuropathy, including impact on patient quality of life is not well understood. This study aims to qualitatively describe the range of symptoms associated with Charcot Marie Tooth type 1A and impact on quality of life. Methods We performed qualitative interviews with 16 adult Charcot Marie Tooth type 1A patients. Each interview was analyzed using a qualitative framework technique to identify and index symptoms by theme. Results Sixteen patients provided 656 quotes. One hundred and forty-five symptoms of importance were identified representing 20 symptomatic themes. Symptoms associated with difficulty with mobility and ambulation, specific activity impairment, and emotional distress were the most frequently mentioned. Conclusions Multiple symptoms contribute to Charcot Marie Tooth type 1A disease burden, some previously under-recognized. Improved recognition of under-recognized symptoms will optimize patient care and quality of life. PMID:23965405

  8. "Typhoid Mary" and "HIV Jane": responsibility, agency and disease prevention.

    PubMed

    Chan, Kit Yee; Reidpath, Daniel D

    2003-11-01

    The construction of disease risks as knowable, calculable and preventable in dominant social science and public health discourses has fostered a certain kind of logic about individual risk and the responsibility for infection. Disease control measures that have developed out of this logic typically fail to recognise the socio-structural roots of many high-risk behaviours that are linked to the spread of infection. Instead, they hold the disease carrier responsible for managing his/her own risk of infection of others, and rely on constraining the agency of the carrier (e.g. by constraining movement, contact or occupation). In occupations associated with a high risk of infection, the idea of responsibility of the actor implicitly raises issues of "professional responsibility". Using the case of "Typhoid Mary" and a hypothetical case of "HIV Jane", this paper explores some of the problems with making sex workers responsible for the prevention of HIV transmission. It argues that for the notion of "responsibility" to make any sense, the HIV-positive person must be in a position to exercise responsibility, and for this they must have agency. PMID:14708397

  9. 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. PMID:27601958

  10. 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

  11. Modeling protein misfolding in charcot-marie-tooth disease.

    PubMed

    Theocharopoulou, Georgia; Vlamos, Panayiotis

    2015-01-01

    Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder. Recent advancements in molecular biology have elucidated the molecular bases of this genetically heterogeneous neuropathy. Still, the major challenge lies in determining the individual contributions by malfunctions of proteins to the disease's pathology. This paper reviews the identified molecular mechanisms underlying major forms of CMT disease. A growing body of evidence has highlighted the role of protein misfolding in demyelinating peripheral neuropathies and neurodegenerative diseases. Several hypotheses have been proposed to explain how misfolded aggregates induce neuronal damage. Current research focuses on developing novel therapeutic targets which aim to prevent, or even reverse the formation of protein aggregation. Interestingly, the role of the cellular defence mechanisms against accumulation of misfolded proteins may play a key role leading to novel strategies for treatment accelerating the clearance of their toxic early aggregates. Based on these findings we propose a model for describing in terms of a formal computer language, the biomolecular processes involving proteins associated with CMT disease. PMID:25417019

  12. 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. PMID:26010435

  13. Dominant Charcot-Marie-Tooth syndrome and cognate disorders.

    PubMed

    Pareyson, Davide; Marchesi, Chiara; Salsano, Ettore

    2013-01-01

    Charcot-Marie-Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of the underlying molecular mechanisms has greatly improved. Consequently, a precise genetic diagnosis is now possible in the majority of cases, thus allowing proper genetic counseling. Although, unfortunately, treatment is still unavailable for all types of CMT, several cellular and animal models have been developed and some compounds have proved effective in these models. The first trials with ascorbic acid in CMT type 1A have been completed and, although negative, are providing relevant information on disease course and on how to prepare for future trials. PMID:23931817

  14. 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. PMID:1744021

  15. 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

    ... 33 CFR 165.7(a). The primary method of notification, however, will be through Broadcast Notice to... safety zones: (1) All U.S. navigable waters downstream of the Sabin and Davis Locks, Sault Sainte Marie... Lock downstream gate, to approximately 1,750 feet due east of the center of the Davis Lock...

  16. 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…

  17. Charcot-Marie-Tooth disease and related inherited neuropathies.

    PubMed

    Murakami, T; Garcia, C A; Reiter, L T; Lupski, J R

    1996-09-01

    Charcot-Marie-Tooth disease (CMT) was initially described more than 100 years ago by Charcot, Marie, and Tooth. It was only recently, however, that molecular genetic studies of CMT have uncovered the underlying causes of most forms of the diseases. Most cases of CMT1 are associated with a 1.5-Mb tandem duplication in 17p11.2-p12 that encompasses the PMP22 gene. Although many genes may exist in this large duplicated region, PMP22 appears to be the major dosage-sensitive gene. CMT1A is the first autosomal dominant disease associated with a gene dosage effect due to an inherited DNA rearrangement. There is no mutant gene, but instead the disease phenotype results from having 3 copies of a normal gene. Furthermore, these findings suggest that therapeutic intervention in CMT1A duplication patients may be possible by normalizing the amount of PMP22 mRNA levels. Alternatively, CMT1A can be caused by mutations in the PMP22 gene. Other forms of CMT are associated with mutations in the MPZ (CMT1B) and Cx32 (CMTX) genes. Thus, mutations in different genes can cause similar CMT phenotypes. The related but more severe neuropathy, Dejerine-Sottas syndrome (DSS), can also be caused by mutations in the PMP22 and MPZ genes. All 3 genes thus far identified by CMT researchers appear to play an important role in the myelin formation or maintenance of peripheral nerves. CMT1A, CMT1B, CMTX, hereditary neuropathy with liability to pressure palsies (HNPP), and DSS have been called myelin disorders or "myelino-pathies." Other demyelinating forms, CMT1C and CMT-AR, may be caused by mutations of not yet identified myelin genes expressed in Schwann cells. The clinically distinct disease HNPP is caused by a 1.5-Mb deletion in 17p11.2-p12, which spans the same region duplicated in most CMT1A patients. Underexpression of the PMP22 gene causes HNPP just as overexpression of PMP22 causes CMT1A. Thus, 2 different phenotypes can be caused by dosage variations of the same gene. It is apparent that

  18. St. Mary's has a "Sailabration". An Indiana hospital sets aside a day for spiritual renewal.

    PubMed

    Sister Betty Anne Darch; Newsmaster, Pamela

    2005-01-01

    Ascension Health has asked all of its health care ministries to promote spirituality in the workplace. St. Mary's Health System, Evansville, IN, responded to this request with several initiatives, including the development, facilitation, and implementation of a new model for what St. Mary's calls its "Employee Renewal Day." Revamped from a voluntary unpaid day to a paid day on which participation is strongly encouraged, Employee Renewal Day 2004 focused on fellowship, relaxation, and the history and heritage of St. Mary's and its sponsor. Based on an employee's suggestion, the mission team adopted a nautical theme, "Sailabration Cruise: A Day of Renewal," and took employees on "a voyage" complete with mission-themed ports, passenger photos, a ship's log, purser's desk, and an activities director. More than 1,200 St. Mary's employees-or 23 percent of the total workforce-participated. All of St. Mary's 135 leaders were in attendance. The new Employee Renewal Day model will be tried over a three-year period, so as to measure the progress of furthering the integration of spirituality within the organizational culture. PMID:15926423

  19. 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.

  20. 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.

  1. 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

  2. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

    PubMed Central

    Ghezzi, Daniele; Chassagne, Maïté; Mayençon, Martine; Padet, Sylvie; Melchionda, Laura; Rouvet, Isabelle; Lannes, Béatrice; Bozon, Dominique; Latour, Philippe; Zeviani, Massimo; Mousson de Camaret, Bénédicte

    2013-01-01

    Objective: To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease. Methods: We describe 2 patients from a consanguineous family with demyelinating autosomal recessive CMT disease (CMT4) associated with the homozygous splice site mutation c.107-2A>G in the SURF1 gene, encoding an assembly factor of the mitochondrial respiratory chain complex IV. This observation led us to hypothesize that mutations in SURF1 might be an unrecognized cause of CMT4, and we investigated SURF1 in a total of 40 unrelated patients with CMT4 after exclusion of mutations in known CMT4 genes. The functional impact of c.107-2A>G on splicing, amount of SURF1 protein, and on complex IV activity and assembly was analyzed. Results: Another patient with CMT4 was found to harbor 2 additional SURF1 mutations. All 3 patients with SURF1-associated CMT4 presented with severe childhood-onset neuropathy, motor nerve conduction velocities <25 m/s, and lactic acidosis. Two patients had brain MRI abnormalities, including putaminal and periaqueductal lesions, and developed cerebellar ataxia years after polyneuropathy. The c.107-2A>G mutation produced no normally spliced transcript, leading to SURF1 absence. However, complex IV remained partially functional in muscle and fibroblasts. Conclusions: We found SURF1 mutations in 5% of families (2/41) presenting with CMT4. SURF1 should be systematically screened in patients with childhood-onset severe demyelinating neuropathy and additional features such as lactic acidosis, brain MRI abnormalities, and cerebellar ataxia developing years after polyneuropathy. PMID:24027061

  3. Biomarkers research in neuromuscular disease Charcot-Marie-Tooth.

    PubMed

    Seco-Cervera, Marta; Ibañez-Cabellos, Jose Santiago; Garcia-Gimenez, Jose Luis; Espinos, Carmen; Palau, Francesc; Pallardo, Federico V

    2014-10-01

    Charcot-Marie-Tooth disease (CMT) (ORPHA166) is the most frequent hereditary neuropathy. CMT is a heterogeneous group of disorders which, despite some variability in their clinical features, share the same general phenotype, usually characterized by wasting and weakness of distal limb muscles, decreased to absent deep tendon reflexes, distal sensory loss, and frequent skeletal deformities. Despite the clinical and molecular description of this disease in the last 20 years, there is no effective drug or advanced therapy available. Here we have pretend the identification of metabolic and oxidative stress biomarkers in plasmas from patients with duplication at PMP22 gene, the most frequent mutation causing CMT, and clinically characterized as CMT1A. The samples were collected in the neuropathy units from "La Fe" Hospital of Valencia, "Bellvitge" Hospital of Barcelona, "La Paz" Hospital of Madrid, and "Virgen del Rocío" Hospital of Sevilla. The metabolic biomarkers research was performed using 2D-DIGE analysis (Typhoon TRIO, GE) and DeCyder software (GE). Protein identification was made by mass spectrometry by MALDI-TOF-TOF (ABSciex) and liquid Chromatography analysis (ABSciex). The oxidative stress biomarkers research consisted in carbonylated proteins analysis by reaction with DNPH and Dot-blot. Total antioxidant capacity and GSSG/GSH ratio were analyzed with Antioxidant Assay kit (Cayman) and Glutathione Fluorescent detection Kit (Arbor Assays), respectively. Finally now we are performing the MDA levels by HPLC-UV. We found 8, 13 and 36 proteins with differential expression in mild, moderate and severely affected patients, respectively compared with their own matched controls. Also we found differences on oxidative stress parameters between de different groups analyzed. Our results suggest differences in the oxidative stress profile between the studied phenotypes in CMT1A patients. PMID:26461392

  4. Charcot-Marie-Tooth disease and related peripheral neuropathies.

    PubMed

    De Jonghe, P; Timmerman, V; Nelis, E; Martin, J J; Van Broeckhoven, C

    1997-01-01

    Soon after the description of Charcot-Marie-Tooth disease (CMT) in 1886, it became apparent that this syndrome is clinically and genetically heterogeneous. Neuropathological and electrophysiological studies have further dissected this syndrome into distinct categories that are now classified in a complex nosology of the inherited peripheral neuropathies. The recent advent of molecular genetics has dramatically increased our understanding of the underlying disease mechanisms. Genetic linkage studies have identified at least 17 genetic loci for different types of inherited neuropathies although most genes involved still remain to be found. The application of molecular genetics has already had an important impact on clinical practice and genetic counselling. Three genes responsible for hereditary motor and sensory neuropathy type I (HMSNI) or CMT1 have been identified: peripheral myelin protein 22 (PMP22) and myelin protein zero (MPZ) for the autosomal dominant form and connexin 32 (Cx32) for the X-linked dominant variant. The PMP22 gene is also involved in the majority of families with hereditary neuropathy with liability to pressure palsies (HNPP). The observation of a 1.5 Mb tandem duplication in chromosome 17p11.2, containing the PMP22 gene, in CMT1 and the reciprocal deletion in the same region in HNPP has provided a novel disease paradigm for autosomal dominant disorders, i.e. the gene dosage mechanism. The study of phenotype-genotype correlations in transgenic animal models for PMP22, MPZ and Cx32 mutations will help elucidate the underlying disease mechanisms and will provide a basis for gene therapy and/or other therapeutic approaches such as treatment with neurotrophic growth factors. PMID:10975746

  5. 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.

  6. 76 FR 31839 - Safety Zones; Annual Events Requiring Safety Zones in the Captain of the Port Sault Sainte Marie...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-02

    ... zone, in the Federal Register (76 FR 21677). We received 0 public submissions commenting on this rule... in the Captain of the Port Sault Sainte Marie zone, in the Federal Register (76 FR 21677). The Coast... in the Captain of the Port Sault Sainte Marie zone, in the Federal Register (76 FR 21677). The...

  7. 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

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; International Bridge 50th Anniversary..., 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...

  8. 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)

  9. Electron self-exchange kinetics determined by MARY spectroscopy: theory and experiment.

    PubMed

    Justinek, M; Grampp, G; Landgraf, S; Hore, P J; Lukzen, N N

    2004-05-01

    The electron self-exchange between a neutral molecule and its charged radical, which is part of a spin-correlated radical ion pair, gives rise to line width effects in the fluorescence-detected MARY (magnetic field effect on reaction yield) spectrum similar to those observed in EPR spectroscopy. An increasing self-exchange rate (i.e., a higher concentration of the neutral molecule) leads to broadening and subsequent narrowing of the spectrum. Along with a series of MARY spectra recorded for several systems (the fluorophores pyrene, pyrene-d(10) and N-methylcarbazole in combination with 1,2- and 1,4-dicyanobenzene) in various solvents, a theoretical model is developed that describes the spin evolution and the diffusive recombination of the radical pair under the influence of the external magnetic field and electron self-exchange, thereby allowing the simulation of MARY spectra of the systems investigated experimentally. The spin evolution of the radicals in the pair is calculated separately using spin correlation tensors, thereby allowing rigorous quantum mechanical calculations for real spin systems. It is shown that the combination of these simulations with high resolution, low noise experimental spectra makes the MARY technique a novel, quantitative method for the determination of self-exchange rate constants. In comparison to a simple analytical formula which estimates the self-exchange rate constant from the slope of the linear part of a line width vs concentration plot, the simulation method yields more reliable and accurate results. The correctness of the results obtained by the MARY method is proved by a comparison with corresponding data from the well-established EPR line broadening technique. With its less stringent restrictions on radical lifetime and stability, the MARY technique provides an alternative to the classical EPR method, in particular for systems involving short-lived and unstable radicals. PMID:15113235

  10. Mary Mallon (1869-1938) and the history of typhoid fever.

    PubMed

    Marineli, Filio; Tsoucalas, Gregory; Karamanou, Marianna; Androutsos, George

    2013-01-01

    Mary Mallon was born in 1869 in Ireland and emigrated to the US in 1884. She had worked in a variety of domestic positions for wealthy families prior to settling into her career as a cook. As a healthy carrier of Salmonella typhi her nickname of "Typhoid Mary" had become synonymous with the spread of disease, as many were infected due to her denial of being ill. She was forced into quarantine on two separate occasions on North Brother Island for a total of 26 years and died alone without friends, having evidently found consolation in her religion to which she gave her faith and loyalty. PMID:24714738

  11. 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.

  12. Allied-Signal's Mary Good Analyzes New Threats to Chemical Profession.

    ERIC Educational Resources Information Center

    Chemical and Engineering News, 1986

    1986-01-01

    Recounts an interview with chemist, educator, and executive Mary Good. Opinions are expressed about the status of basic research in chemistry, the relationship of chemical research to several federal agencies, the value of education in chemistry, and the perceptions of the public regarding the chemical community, particularly the health risks. (TW)

  13. Telling Ideas by the Company They Keep: A Response to the Critique by Mary Juzwik

    ERIC Educational Resources Information Center

    Sfard, Anna

    2006-01-01

    In a number of personal communications and now in her article in "Educational Researcher", Mary Juzwik repeatedly observes that some elaborations may be needed for fuller understanding of the notion of "identity-as-narrative", introduced in the article this author co-wrote with Anna Prusak "Telling Identities: In Search of an Analytic Tool for…

  14. 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…

  15. 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.

  16. Seven Lessons Learned from General Education Reform at Saint Mary's College

    ERIC Educational Resources Information Center

    Incandela, Joseph M.

    2011-01-01

    Saint Mary's College, a single-gender Catholic institution in northern Indiana with approximately 1,600 students, has just revised a general education curriculum that had been in place for nearly forty years. The board of trustees unanimously approved the new curriculum in April 2010. In this article, the author discusses seven key lessons learned…

  17. Women's Emancipation through Education: The Radical Agenda of Mary Wollstonecraft (1759-1797).

    ERIC Educational Resources Information Center

    Roberts, Leonard H.; Pollman, Mary Jo

    Two hundred years ago, Mary Wollstonecraft, the English women's rights pioneer, published her immortal work: "A Vindication of the Rights of Woman." In it she placed much of the blame for women's inferior political, intellectual, and social status on "faulty education." In "Vindication," she offered a number of recommendations aimed at enhancing…

  18. A Boolean Anthology. Selected Writings of Mary Boole - on Mathematical Education.

    ERIC Educational Resources Information Center

    Tahta, D. G., Comp.

    This volume is intended to provide a brief introduction to Mary Boole's writings. Short selections from her writings are organized under four areas: on teaching and learning, some mathematical lessons, the nature of mathematics, and the work of George Boole. A brief biography is also included. (DT)

  19. 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.

  20. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Atlantic Intracoastal Waterway, Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Georgia §...

  1. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Atlantic Intracoastal Waterway, Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Georgia §...

  2. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false Atlantic Intracoastal Waterway, Savannah River to St. Marys River. 117.353 Section 117.353 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Georgia §...

  3. 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 divinity and…

  4. 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…

  5. 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,…

  6. 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…

  7. 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)

  8. [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. PMID:27514143

  9. 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 life, art…

  10. 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…

  11. 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…

  12. 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.

  13. Mary Munford Model School and Virginia Commonwealth University: Unexpected Benefits in a Working Partnership.

    ERIC Educational Resources Information Center

    Fox, Jill Englebright; Branch, Stacey B.

    1999-01-01

    Describes the 5-year-old Professional Development School (PDS) relationship between the Mary Munford Model School near Richmond, Virginia, and Virginia Commonwealth University. The PDS focuses on goals of the Holmes Partnership. This paper looks at the stories of a classroom teacher and a university educator involved in the PDS. (SM)

  14. 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…

  15. 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,…

  16. 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,…

  17. 75 FR 31835 - Environmental Impact Statement: Calvert and St. Mary's Counties, MD

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-06-04

    ... Counties, Maryland (Federal Register Vol. 72, No. 203; FR Doc. 07-5190) is being withdrawn and an... Federal Highway Administration Environmental Impact Statement: Calvert and St. Mary's Counties, MD AGENCY... this notice to advise the public that a prior Notice of Intent to prepare an Environmental...

  18. 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...

  19. 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)

  20. Mary Ritter Beard and Marion Thompson Wright: Shaping Inclusive Social Education.

    ERIC Educational Resources Information Center

    Crocco, Margaret Smith

    1997-01-01

    Examines contributions by Mary Ritter Beard and Marion Thompson Wright to inclusive social education curricula. Beard established the field of women's history; Wright promoted the application of black history. Both saw social betterment as the goal of knowledge and sought inclusive understanding of the nature of legitimate knowledge in schools.…

  1. Women in History: Mary Parker Follett--A Leadership Theorist Ahead of Her Time

    ERIC Educational Resources Information Center

    Gaspar, Sandy

    2004-01-01

    This article profiles Mary Parker Follet, a management and leadership voice in the 1920s and 30s who was far ahead of her time. Throughout her lifetime, Follet refused to accept the dualities and dichotomies that threatened to divide individuals and organizations. In her book, "The New State," Follet argued that group organization and local…

  2. 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…

  3. Aspects of Community Healing: Experiences of the Sault Sainte Marie Tribe of Chippewa Indians.

    ERIC Educational Resources Information Center

    McBride, Beverly A.

    2003-01-01

    The Sault Sainte Marie tribe of Chippewa Indians (Michigan) facilitated community healing through a curriculum that raised awareness of harmful assimilation factors and the impact of oppression and reintroduced creation stories and the clan system to reclaim American Indian cultural identity. Thirty-two persons completed the first round of…

  4. 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

  5. Sister Mary Emil Penet, I.H.M.: Founder of the Sister Formation Conference

    ERIC Educational Resources Information Center

    Glisky, Joan

    2006-01-01

    Mary Emil Penet, I.H.M., (1916-2001) used her talents and charisma to shape the first national organization of American women religious, the Sister Formation Conference (SFC; 1954-1964), facilitating the integrated intellectual, spiritual, psychological, and professional development of vowed women religious. In the decade preceding Vatican II, her…

  6. 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.

  7. 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…

  8. 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…

  9. Mary Hayes and Deborah Sampson: The Rhetoric of Neglect, Praise, and Expectation.

    ERIC Educational Resources Information Center

    Hassencahl, Fran

    This study focuses on the rhetoric about, rather than the rhetoric of, two Revolutionary War heroines, Mary Hayes and Deborah Sampson Gannet. The rhetoric about these women is divided into three areas: the rhetoric of neglect, as practiced by conventional historians; the rhetoric of praise, as given by patriotic societies such as the Daughters of…

  10. Principal Succession: A View through the Lens of Mary Douglas' Grid and Group

    ERIC Educational Resources Information Center

    Mills, Angela

    2012-01-01

    Scope and Method of Study: This Naturalistic Inquiry Case Study examines principal succession at two small, rural high schools through naturalistic inquiry presented through the lens of Mary Douglas' grid and group cultural typology. A grid and group cultural analysis survey was sent to all school employees then in-depth, follow-up interviews…

  11. 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 "static brochure" into…

  12. 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…

  13. 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)

  14. 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…

  15. 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)

  16. 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…

  17. 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, "Women and…

  18. Open Concept School for Indian Education. Sault Sainte Marie, Michigan, 1973.

    ERIC Educational Resources Information Center

    Sault Sainte Marie Public Schools, MI.

    The product of an Elementary Secondary Education Act Title III project produced by the staff and administration of the Finlayson Elementary School in Sault Ste. Marie, Michigan for American Indian students, this handbook is designed as a guide to educators engaging in open concept education. Constituting a model, this handbook incorporates the…

  19. 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)

  20. 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.... Petitions for stay must be filed no later than May 5, 2010 (at least 7 days before the exemption...

  1. Saint Mary's College Small Library Planning Program. Report of a Self Study, September 1979-October 1980.

    ERIC Educational Resources Information Center

    Saint Mary's Coll., Notre Dame, IN.

    A nine month self-study aimed at improving public and technical services, internal operations, and overall management was conducted during 1979-80 by the library staff at Saint Mary's College. A part of the Small Library Planning Program, the study was funded by the Lilly Foundation through the Office of Management Studies, Association of Research…

  2. 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…

  3. 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…

  4. Public archaeological interpretation on the campus of St. Mary's College of Maryland

    NASA Astrophysics Data System (ADS)

    Horrom, Alexander Michael

    2011-12-01

    Communicating archaeological findings to non-archaeologists is one of the most important and challenging aspects of the discipline. Archaeologists must serve multiple publics, bring communities into the archaeological process, and effectively disseminate information in order for their work to achieve relevance in the modern world. Communication with the public can take many forms, and brings together aspects of historic preservation, dialogic interpretation, applied critical archaeology, heritage, and landscape studies. This dissertation analyzes public interpretation at St. Mary's City, Maryland, a multi-component historic landscape containing historic and prehistoric sites from various time periods and proposes measures to be taken there to better engage the public. This site presents a unique context for public interpretation: the Historic St. Mary's City archaeological museum occupies a portion of the landscape, while neighboring St. Mary's College of Maryland is a public collegiate campus that contains an imposing number of uninterpreted sites. Exploration of the histories and relationships between these institutions provide insight into the many factors which impact public interpretation. Examination of this case includes identifying audiences, gauging attitudes towards archaeology, assessing current interpretive measures, and identifying areas where public engagement can be improved. The example of St. Mary's outlines how an individual's relationship to archaeology is interwoven into their experience of the landscape. The past and present coexist on historic landscapes, and public communication can use this juxtaposition to engage audiences in meaningful ways. I conclude by developing an archaeological walking tour of the St. Mary's landscape aimed at creating discussion and making people aware of the sites around them.

  5. 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

  6. 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

  7. 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

    ... 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...

  8. [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. PMID:21905607

  9. 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.

  10. Genome sequence of the marine bacterium Corynebacterium maris type strain Coryn-1(T) (= DSM 45190(T)).

    PubMed

    Schaffert, Lena; Albersmeier, Andreas; Bednarz, Hanna; Niehaus, Karsten; Kalinowski, Jörn; Rückert, Christian

    2013-07-30

    Corynebacterium maris Coryn-1(T) Ben-Dov et al. 2009 is a member of the genus Corynebacterium which contains Gram-positive, non-spore forming bacteria with a high G+C content. C. maris was isolated from the mucus of the Scleractinian coral Fungia granulosa and belongs to the aerobic and non-haemolytic corynebacteria. It displays tolerance to salts (up to 10%) and is related to the soil bacterium Corynebacterium halotolerans. As this is a type strain in a subgroup of Corynebacterium without complete genome sequences, this project, describing the 2.78 Mbp long chromosome and the 45.97 kbp plasmid pCmaris1, with their 2,584 protein-coding and 67 RNA genes, will aid the G enomic E ncyclopedia of Bacteria and Archaea project. PMID:24501635

  11. 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. PMID:26971726

  12. 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.

  13. 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.

  14. 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! )

  15. 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. PMID:27480014

  16. 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.

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

    PubMed

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

    2013-08-01

    In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups. PMID:22285450

  18. 1935 Period Plan Marie Zimmermann Farm, U.S. Route 209, ...

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

    1935 Period 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

  19. 1972 Period Plan Marie Zimmermann Farm, U.S. Route 209, ...

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

    1972 Period 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

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

    SciTech Connect

    Mary Ann Piette

    2010-02-09

    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/

  1. Exploring variation-aware contig graphs for (comparative) metagenomics using MaryGold

    PubMed Central

    Nijkamp, Jurgen F.; Pop, Mihai; Reinders, Marcel J. T.; de Ridder, Dick

    2013-01-01

    Motivation: Although many tools are available to study variation and its impact in single genomes, there is a lack of algorithms for finding such variation in metagenomes. This hampers the interpretation of metagenomics sequencing datasets, which are increasingly acquired in research on the (human) microbiome, in environmental studies and in the study of processes in the production of foods and beverages. Existing algorithms often depend on the use of reference genomes, which pose a problem when a metagenome of a priori unknown strain composition is studied. In this article, we develop a method to perform reference-free detection and visual exploration of genomic variation, both within a single metagenome and between metagenomes. Results: We present the MaryGold algorithm and its implementation, which efficiently detects bubble structures in contig graphs using graph decomposition. These bubbles represent variable genomic regions in closely related strains in metagenomic samples. The variation found is presented in a condensed Circos-based visualization, which allows for easy exploration and interpretation of the found variation. We validated the algorithm on two simulated datasets containing three respectively seven Escherichia coli genomes and showed that finding allelic variation in these genomes improves assemblies. Additionally, we applied MaryGold to publicly available real metagenomic datasets, enabling us to find within-sample genomic variation in the metagenomes of a kimchi fermentation process, the microbiome of a premature infant and in microbial communities living on acid mine drainage. Moreover, we used MaryGold for between-sample variation detection and exploration by comparing sequencing data sampled at different time points for both of these datasets. Availability: MaryGold has been written in C++ and Python and can be downloaded from http://bioinformatics.tudelft.nl/software Contact: d.deridder@tudelft.nl PMID:24058058

  2. 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. PMID:26403061

  3. 2012 Existing Landscape Plan Marie Zimmermann Farm, U.S. Route ...

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

    2012 Existing Landscape 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

  4. 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

  5. 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.

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

    ScienceCinema

    Mary Ann Piette

    2010-09-01

    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/

  7. 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. PMID:24041324

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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

  14. Temperature history of Coregonus artedi in the St. Marys River, Laurentian Great Lakes, inferred from oxygen isotopes in otoliths

    USGS Publications Warehouse

    Joukhadar, Zeina; Patterson, W.P.; Todd, T.N.; Smith, G.R.

    2002-01-01

    The population of Coregonus artedi in the St. Marys River, between lakes Superior and Huron, was sampled and otoliths were analyzed for oxygen isotopic composition to determine whether the fish are residents in the St. Marys River and its warm bays or migrants to and from cold Lake Huron. Otoliths were extracted, sectioned, and growth ring-specific samples of calcium carbonate were milled to obtain samples for determination of oxygen isotope ratios (18O values). The 18O values of calcium carbonate (CaCO3) in accretionary structures such as otoliths allow calculation of growth temperatures of the fish, because of differential fractionation of oxygen isotopes at different temperatures. Growth temperatures of 10 St. Marys River lake herring were compared with lake and catch data as well as growth temperatures of lake herring collected from Lake Huron and other ciscoes from the Great Lakes. Results of this analysis indicate that these fish remained in the bays of the St. Marys River for their entire life history. After their second year they grew at average temperatures between 11 C and 13 C, consistent with temperature in the warmer bays of the St. Marys River and 6 C higher than expected for growth of this species in Lake Huron.

  15. Analytical performance of the automated multianalyte point-of-care mariPOC® for the detection of respiratory viruses.

    PubMed

    Sanbonmatsu-Gámez, Sara; Pérez-Ruiz, Mercedes; Lara-Oya, Ana; Pedrosa-Corral, Irene; Riazzo-Damas, Cristina; Navarro-Marí, José María

    2015-11-01

    The analytical performance of mariPOC® respi test (ArcDia® Laboratories, Turku, Finland) was evaluated using nucleic acid amplification techniques (NAATs) as the gold standard. The mariPOC assay allows automated detection of antigens from 8 respiratory viruses: influenza A and B viruses, respiratory syncytial virus, adenovirus, human metapneumovirus, and parainfluenza viruses 1-3. Positive results from samples with high viral load are available in 20min. Nasopharyngeal aspirates (n=192) from patients with acute respiratory infection and from previously positive samples were analyzed by mariPOC and NAATs (Simplexa(TM) FluA/FluB & RSV kit [n=118] and Luminex® Respiratory virus panel xTAG® RVP FAST [n=74]). Sensitivity, specificity, positive predictive value, and negative predictive value of mariPOC were 85.4%, 99.2%, 95.9%, and 97%, respectively, and 84.6% of positive results were reported in 20min. The good analytical performance and extended portfolio of mariPOC show this rapid assay as a good alternative for the etiological diagnosis of acute respiratory infection in laboratories that are not equipped with molecular assays. PMID:26283523

  16. Land degradation monitoring in the Ocnele Mari salt mining area using satellite imagery

    NASA Astrophysics Data System (ADS)

    Poenaru, Violeta D.; Badea, Alexandru; Savin, Elena; Teleaga, Delia; Poncos, Valentin

    2011-11-01

    Mining is an important activity contributing to the economic development with long lasting environmental impacts. A major disaster took place in 2001 in Ocnele Mari salt mining area located in the central-south part of Romania when the artificial lake brine was poured in rural areas, devastating homes and polluting the Olt River. Towards a sustainable and harmonious development of the Ocnele Mari area, the Romanian Authorities decided to ecology and rehabilitate it. This ongoing project is focused on land degradation monitoring from 2001 disasters until now. High Resolution Spotlight TerraSar-X synthetic aperture radar data acquired within TerraSAR-X proposal LAN0778 are used to analyze terrain deformation by interferometric techniques knowing the mine subsidence is not constant; periods of relative stability are followed by quick deformation. The rocks forming in the region situated above the salt cushion have very low mechanical resistance and high intergranular fissured permeability so the hill's slopes are affected by landslides which are reactivated periodically. Additionally, analysis of the vegetation coverage (leaf area index and normalized difference vegetation index) from the optical data gathered by different sensors such as LANDSAT and MODIS combined with the meteorological data (temperature, wind speed, humidity and solar radiation) provide indicators for the land degradation. The results will be validating on ancillary data. Satellite derived information in conjunction with in-situ measurements can provide valuable information for existing conservation development models for defining the essential elements of a planning process designed to maximize the values provided by salt ponds from Ocnele Mari.

  17. A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L

    PubMed Central

    Zhang, Ruxu; Zhang, Fufeng; Li, Xiaobo; Huang, Shunxiang; Zi, Xiaohong; Liu, Ting; Liu, Sanmei; Li, Xuning; Xia, Kun; Pan, Qian; Tang, Beisha

    2014-01-01

    We previously found that the K141N mutation in heat shock protein B8 (HSPB8) was responsible for Charcot-Marie-Tooth disease type 2L in a large Chinese family. The objective of the present study was to generate a transgenic mouse model bearing the K141N mutation in the human HSPB8 gene, and to determine whether this K141NHSPB8 transgenic mouse model would manifest the clinical phenotype of Charcot-Marie-Tooth disease type 2L, and consequently be suitable for use in studies of disease pathogenesis. Transgenic mice overexpressing K141NHSPB8 were generated using K141N mutant HSPB8 cDNA cloned into a pCAGGS plasmid driven by a human cytomegalovirus expression system. PCR and western blot analysis confirmed integration of the K141NHSPB8 gene and widespread expression in tissues of the transgenic mice. The K141NHSPB8 transgenic mice exhibited decreased muscle strength in the hind limbs and impaired motor coordination, but no obvious sensory disturbance at 6 months of age by behavioral assessment. Electrophysiological analysis showed that the compound motor action potential amplitude in the sciatic nerve was significantly decreased, but motor nerve conduction velocity remained normal at 6 months of age. Pathological analysis of the sciatic nerve showed reduced myelinated fiber density, notable axonal edema and vacuolar degeneration in K141NHSPB8 transgenic mice, suggesting axonal involvement in the peripheral nerve damage in these animals. These findings indicate that the K141NHSPB8 transgenic mouse successfully models Charcot-Marie-Tooth disease type 2L and can be used to study the pathogenesis of the disease. PMID:25206829

  18. 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.

  19. 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.

  20. Mary Adams and the producer's role in early BBC science broadcasts.

    PubMed

    Jones, Allan

    2012-11-01

    Mary Adams was a science producer at the BBC from 1930-6. She is shown to have played a crucial role in shaping science broadcasts, in particular devising formats and styles of presentation. However, her approach is shown to have been primarily motivated by broadcasting considerations rather than by the popularisation of science. Through her interaction with scientists she helped to construct a new professional domain, that of the science-broadcasting professional, at a time when other producers were creating analogous roles in other areas of broadcasting. This paper is based largely on unpublished archival documents. PMID:23832748

  1. The gendering of Albert Einstein and Marie Curie in children's biographies: some tensions

    NASA Astrophysics Data System (ADS)

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

    2009-12-01

    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 society. Trevor Owens' analysis of common Einstein and Currie biographies for children provides a context for us to consider a deeper reading of these scientists' stories in ways that can be both empowering and liberating. In the process, we consider some interesting tensions surrounding the gendered nature of their stories.

  2. Mary Mallon (1869-1938) and the history of typhoid fever

    PubMed Central

    Marineli, Filio; Tsoucalas, Gregory; Karamanou, Marianna; Androutsos, George

    2013-01-01

    Mary Mallon was born in 1869 in Ireland and emigrated to the US in 1884. She had worked in a variety of domestic positions for wealthy families prior to settling into her career as a cook. As a healthy carrier of Salmonella typhi her nickname of “Typhoid Mary” had become synonymous with the spread of disease, as many were infected due to her denial of being ill. She was forced into quarantine on two separate occasions on North Brother Island for a total of 26 years and died alone without friends, having evidently found consolation in her religion to which she gave her faith and loyalty. PMID:24714738

  3. MaRIE X-Ray Free-Electron Laser Pre-Conceptual Design

    SciTech Connect

    Carlsten, Bruce E.; Barnes, Cris W.; Bishofberger, Kip A.; Duffy, Leanne D.; Heath, Cynthia E.; Marksteiner, Quinn R.; Nguyen, Dinh Cong; Russell, Steven J.; Ryne, Robert D.; Sheffield, Richard L.; Simakov, Evgenya I.; Yampolsky, Nikolai A.

    2011-01-01

    The proposed Matter-Radiation Interactions in Extremes (MaRIE) facility at the Los Alamos National Laboratory will include a 50-keV X-Ray Free-Electron Laser (XFEL), a significant extension from planned and existing XFEL facilities. To prevent an unacceptably large energy spread arsing from energy diffusion, the electron beam energy should not exceed 20 GeV, which puts a significant constraint on the beam emittance. A 100-pC baseline design is presented along with advanced technology options to increase the photon flux and to decrease the spectral bandwidth through pre-bunching the electron beam.

  4. 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.

  5. Recursive ideal observer detection of known M-ary signals in multiplicative and additive Gaussian noise.

    NASA Technical Reports Server (NTRS)

    Painter, J. H.; Gupta, S. C.

    1973-01-01

    This paper presents the derivation of the recursive algorithms necessary for real-time digital detection of M-ary known signals that are subject to independent multiplicative and additive Gaussian noises. The motivating application is minimum probability of error detection of digital data-link messages aboard civil aircraft in the earth reflection multipath environment. For each known signal, the detector contains one Kalman filter and one probability computer. The filters estimate the multipath disturbance. The estimates and the received signal drive the probability computers. Outputs of all the computers are compared in amplitude to give the signal decision. The practicality and usefulness of the detector are extensively discussed.

  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. Sport activity in Charcot-Marie-Tooth disease: A case study of a Paralympic swimmer.

    PubMed

    Vita, Giuseppe; La Foresta, Stefania; Russo, Massimo; Vita, Gian Luca; Messina, Sonia; Lunetta, Christian; Mazzeo, Anna

    2016-09-01

    This study reports the positive physical, emotional and psychosocial changes induced by sport activity in a Paralympic swimmer with Charcot-Marie-Tooth (CMT) type 4A. When we compared evaluations before initiating sport activity with those after five years of competitive activity, we found: i) increased proximal muscles strength of upper limbs; ii) augmented ability to propel wheelchair independently; iii) improved quality of life; iv) reduced trait anxiety and striking improvement of depression; v) enhanced self-esteem. Longitudinal studies in large cohorts to evaluate the positive effects of sport activity are needed to support provision of evidence-based advice to patients and families. PMID:27460291

  8. 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).

  9. Decision-directed automatic gain control for MAPSK systems. [M-ary Amplitude and Phase Shift Keying

    NASA Technical Reports Server (NTRS)

    Weber, W. J., III

    1974-01-01

    An automatic gain control (AGC) loop is presented for use with M-ary amplitude and phase shift keying (MAPSK) systems. The gain control amplifier is regulated by an error signal formed by the difference between the estimated amplitude level and the received amplitude level. The AGC performance is thus independent of the short-term average received signal energy. AGC loop analysis and simulation is presented for M-ary amplitude shift keying and quadrature amplitude shift keying. The AGC is shown to have a negligible degradation on the symbol probability of error for most practical cases. A generalized AGC for an arbitrary MAPSK system is presented.

  10. Self-Consistent Signal-to-Noise Analysis of CDMA Multiuser Detection with M-Ary Phase-Shift Keying

    NASA Astrophysics Data System (ADS)

    Kato, Hiroyuki; Okada, Masato; Miyoshi, Seiji

    2013-02-01

    We present a theory of the performance of parallel interference cancellation (PIC) for code division multiple access (CDMA) multiuser detection with M-ary phase-shift keying (M-ary PSK) in the large-system limit. The behavior of PIC is essentially the same as that of the associative memory model. Therefore, we analyze the PIC for CDMA using self-consistent signal-to-noise analysis (SCSNA), which was developed to describe the behavior of the associative memory model. We obtain a quantitative description of the performance of PIC.

  11. Life cycle of a mayfly Hexagenia limbata in the St. Marys River between Lakes Superior and Huron

    USGS Publications Warehouse

    Schloesser, Donald W.; Hiltunen, Jarl K.

    1984-01-01

    Length-frequency distribution curves of Hexagenia limbata nymphs collected in May, August, and October 1974 and May 1975 in the St. Marys River between Lakes Superior and Huron were bimodal for each sampling period. These curves, combined with interpretation of nymphal emergence period and mean surface water temperatures, indicate that the population of Hexagenia nymphs in the St. Marys River is composed of two year classes or cohorts. One cohort emerges per season, 2 years after egg deposition.

  12. 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

  13. 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

  14. 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. PMID:27194275

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

    PubMed

    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

  16. 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.

  17. Polyphasic Characterization of Lysobacter maris sp. nov., a Bacterium Isolated from Seawater.

    PubMed

    Yoon, Jaewoo

    2016-03-01

    A strictly aerobic, Gram-negative, apricot-pigmented, non-motile, rod-shaped strain designated KMU-14(T) was isolated from seawater collected from the coastal zone of Yokji Island, Gyeongsangnam-do, Republic of Korea. Phylogenetic analysis based on the 16S rRNA gene sequence revealed that the novel isolate was affiliated with the genus Lysobacter within the class Gammaproteobacteria and that it showed the highest sequence similarity (97.1 %) to Lysobacter concretionis Ko07(T). The hybridization value for DNA-DNA relatedness between the strains of KMU-14(T) and L. concretionis Ko07(T) was 34.8 %, which was lower than 70 %, the recommended delineation value for differentiation of species. The DNA G+C content of strain KMU-14(T) was 64.9 mol%. The major respiratory quinone was ubiquinone 8 (Q-8), and iso-C15:0, iso-C16:0, and 10-methyl C16:0 and/or iso-C17:1 ω9c were the major (>10 %) cellular fatty acids. A polar lipid profile was present consisting of diphosphatidylglycerol, phosphatidylethanolamine, an unidentified phosphoglycolipid, two unidentified aminophospholipids, and two unidentified phospholipids. From the distinct phylogenetic position and combination of genotypic and phenotypic characteristics, the strain is considered to represent a novel species for which the name Lysobacter maris sp. nov. is proposed. The type strain of L. maris sp. nov. is KMU-14(T) (=KCTC 42381(T) =NBRC 110750(T)). PMID:26616671

  18. 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

  19. 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.

  20. Oral health and frailty in the medieval English cemetery of St Mary Graces.

    PubMed

    DeWitte, Sharon N; Bekvalac, Jelena

    2010-07-01

    The analysis of oral pathologies is routinely a part of bioarcheological 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 article 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 cemetery, London, dating to approximately AD 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

  1. Detection of Group A Streptococcus from Pharyngeal Swab Samples by Bacterial Culture Is Challenged by a Novel mariPOC Point-of-Care Test

    PubMed Central

    Koskinen, Janne O.; Brandt, Annika; Muotiala, Anna; Liukko, Viivi; Soittu, Sari; Meriluoto, Siiri; Vesalainen, Marika; Huovinen, Pentti; Irjala, Kerttu

    2015-01-01

    mariPOC is a novel point-of-care test system for rapid detection of respiratory tract infections. We compared the performance of the mariPOC test to that of bacterial culture for detecting group A streptococcus (GAS) in 219 pharyngitis patients (ages 1–64 years) and 109 healthy asymptomatic controls (ages 19–69 years). In addition, 42 patient samples were analyzed by quantitative PCR (qPCR). Of the 219 pharyngeal patient samples, 32 were positive in a GAS bacterial culture (prevalence 15%) and 65 (30%) in the mariPOC test. The amount of GAS in samples reported positive by the mariPOC test and negative by culture was, on average, 10-fold less than that of those positive in both methods. This indicated that the negative results in bacterial cultures were due to lower sensitivity. The qPCR results were positive and in line with the mariPOC results in 43% of the discordant samples studied. Two GAS culture-positive samples were negative by the mariPOC test. The prevalences of GAS in the control subjects were 2% and 6% by culture and mariPOC results, respectively. We conclude that the mariPOC antigen detection test is more sensitive than the conventional bacterial culture for the detection of GAS among symptomatic pharyngitis patients. The higher prevalence of GAS by the mariPOC test among symptomatic patients was probably not due to carriership, since among the control patients, the difference in the prevalence of GAS by the mariPOC test and culture was not nearly as high, 15% versus 4%, respectively. Clinical trials are needed to show the clinical importance of our findings. PMID:25903570

  2. Une analyse phonologique d'une parler acadien de la Nouvelle-Ecosse, Canada. Region de la Baie Sainte-Marie (A Phonological Analysis of Acadian Speech in Nova Scotia, Canada. The Baie Sainte-Marie Region).

    ERIC Educational Resources Information Center

    Ryan, Robert W.

    This study identifies the phonological system in the idiolects of three native speakers of the Acadian dialect in southwest Nova Scotia, on the coast of Baie Sainte-Marie. The study also highlights the specificity of the phonological system by comparing it with the speech of Acadians in Moncton, New Brunswick and with standard French. The…

  3. 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…

  4. A Study of Selected Developing Colleges and Universities. Case Study II: St. Mary's Junior College, Minneapolis, Minnesota.

    ERIC Educational Resources Information Center

    St. John, Edward P.

    As part of a study of selected developing colleges and universities funded in the Advanced Institutional Development Program (AIDP), this report focuses on St. Mary's Junior College (SMJC), a Roman Catholic, two-year college specializing exclusively in health, health-related and human service fields. The report considers SMJC's state of…

  5. 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…

  6. "No Philosophy Carries So Much Conviction as the Personal Life": Mary Wright Plummer as an Independent Woman.

    ERIC Educational Resources Information Center

    Maack, Mary Niles

    2000-01-01

    Provides an overview of the life of Mary Wright Plummer, a leader in American librarianship, and her effort to construct a personal identity as an independent woman. Highlights include her Quaker childhood; European travels; self-actualization and career strategies; and blending public and private spheres. (Contains 101 references.) (LRW)

  7. 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…

  8. 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.

  9. "The Queen of the Lobby": Mary Hunt, Scientific Temperance, and the Dilemma of Democratic Education in America, 1879-1906.

    ERIC Educational Resources Information Center

    Zimmerman, Jonathan

    1992-01-01

    Describes the work of Mary Hunt and the Scientific Temperance movement to mandate teaching about the nature of alcohol and narcotics in the public schools. Examines the struggle over organization and planning within the public school system. Discusses organization in the Scientific Temperance movement's response to public school administration and…

  10. 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…

  11. 33 CFR 165.731 - Safety/Security Zone: Cumberland Sound, Georgia and St. Marys River Entrance Channel.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ..., Florida. (3) The general regulations governing safety and security zones contained in 33 CFR 165.23 and... 33 Navigation and Navigable Waters 2 2013-07-01 2013-07-01 false Safety/Security Zone: Cumberland... Seventh Coast Guard District § 165.731 Safety/Security Zone: Cumberland Sound, Georgia and St. Marys...

  12. 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

  13. 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. PMID:11839059

  14. Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve.

    PubMed

    Kwon, Joo Young; Chung, Ki Wha; Park, Eun Kyung; Park, Sun Wha; Choi, Byung-Ok

    2009-08-01

    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

  15. The use of TWT amplifiers in M-ary amplitude and phase shift keying systems

    NASA Technical Reports Server (NTRS)

    Weber, W. J., III

    1975-01-01

    A great deal of research is presently being conducted to study modulation schemes in order to reduce the bandwidth of digital communications. These M-ary amplitude and phase shift keying (MAPSK) modulation systems place new requirements on TWT amplifiers in space applications in that the various signal sets usually include two or more discrete output power levels as well as discrete phases at each power level. This paper presents a variety of predistortion schemes to circumvent the TWT problems of AM distortion and AM-to-PM conversion in order to produce MAPSK signal sets. A feedback scheme is presented to correct for long-term phase and amplitude drifts in the transmitter. A complete transmitter is proposed using predistortion to produce the desired MAPSK signal set at very high data rates including the possible use of a feedback stabilization scheme.

  16. [Acute vincristine neurotoxicity in a non-Hodgkin's lymphoma patient with Charcot-Marie-Tooth disease].

    PubMed

    Uno, S; Katayama, K; Dobashi, N; Hirano, A; Ogihara, A; Yamazaki, H; Usui, N; Kobayashi, T; Inoue, K; Kuraishi, Y

    1999-05-01

    A 44-year-old, previously healthy man with a diagnosis of non-Hodgkin's lymphoma (NHL, diffuse large B-cell type, stage IIA) was treated with combination chemotherapy including vincristine (VCR). After receiving a cumulative dose of VCR, he experienced rapid and marked weakening which progressed to quadriplegia and bulbar palsy. Prior to this therapy, the patient had no neurological problems, and his siblings were asymptomatic. Physical examination identified pes cavus (hollow foot), and electrodiagnostic studies showed markedly slower nerve conduction velocity of myelinated fibers, with abundant "onion bulb" formations. Chromosomal analysis detected 17p11.2-12 duplication, thus yielding a diagnosis of Charcot-Marie-Tooth (CMT) 1A. CMT disease is a familial neuromuscular disorder, and the incidence is approximately 1 in 2,500. We concluded that if CMT disease is diagnosed, vincristine should be avoided due to the potential severity of neurotoxicity to small doses. PMID:10390891

  17. 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. PMID:27269665

  18. [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. PMID:26764298

  19. 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.

  20. Squamous Cell Carcinoma Arising in a Testicular Teratoma and Presenting as Sister Mary Joseph Nodule

    PubMed Central

    Khan, Kalyan; Bagchi, Dibakar

    2011-01-01

    The most common somatic type malignancy arising in patients with testicular germ cell tumors (GCTs) is sarcoma. Development of carcinomas, especially squamous cell carcinoma is an extremely rare event. Most cases of metastatic umbilical nodules (Sister Mary Joseph nodule) develop from adenocarcinomas. Fifteen percent of such cases have unknown origin; but development from a testicular squamous cell carcinoma has not yet been reported in the literature. We report a rare case of somatic type squamous cell carcinoma arising in a testicular teratoma. It is also possibly the first reported case of its kind which presented with a metastatic umbilical nodule. This possibility should be kept in mind while evaluating metastatic umbilical nodules in young male patients. PMID:22413055

  1. Solar Particle Events Observed by the Odyssey MARIE Instrument at Mars: Dose and Model Calculations

    NASA Technical Reports Server (NTRS)

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

    2003-01-01

    One of the primary concerns prior to human exploration of Mars is the need to accurately characterize the charged particle radiation environment both for the surface stay, and for the transit period to and from the planet. The Odyssey spacecraft, currently in Mars orbit includes a charged particle radiation detector, MARIE, which can measure particle fluxes with energies above approx. 30 MeV and charges between 1 and 10. Two classes of particles are of particular interest: the Galactic Cosmic Rays, (GCR), and those charged particles associated with Solar Particle Events, (SPE). The GCR are present continuously throughout the solar activity cycle, and their numbers vary inversely with the level of solar activity. They are characteristically more energetic than those particles originating from solar activity, and hence less influences by the solar magnetic field.

  2. 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).

  3. 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., Jr.; 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.

  4. 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

  5. [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. PMID:27305745

  6. 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.…

  7. Trellis Coding of Non-coherent Multiple Symbol Full Response M-ary CPFSK with Modulation Index 1/M

    NASA Technical Reports Server (NTRS)

    Lee, H.; Divsalar, D.; Weber, C.

    1994-01-01

    This paper introduces a trellis coded modulation (TCM) scheme for non-coherent multiple full response M-ary CPFSK with modulation index 1/M. A proper branch metric for the trellis decoder is obtained by employing a simple approximation of the modified Bessel function for large signal to noise ratio (SNR). Pairwise error probability of coded sequences is evaluated by applying a linear approximation to the Rician random variable.

  8. 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. PMID:25761374

  9. [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. PMID:25608508

  10. 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.

  11. 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. PMID:23781967

  12. 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

  13. A saw-based demodulator for dehopped FDMA M-ary FSK satellite signals

    NASA Astrophysics Data System (ADS)

    Felstead, E. B.; Pearce, J. L.

    A demodulator has been built and tested, that is capable of performing the functions of an onboard-the-satellite processor for receiving M-ary noncoherent FSK signals with multiple users being separated by FDMA. It is based on spectral analysis of the received signal by a chirp transformer implemented with surface acoustic-wave devices. Demodulation of M = 4-, 8-, and 16-ary FSK signals of 25 microsec symbol duration was demonstrated with capability of handling up to 40/M users. The implementation loss was only 0.5 dB. Measurement of bit error rate performance in the presence of system noise, frequency errors, and partial-band-noise and multiple-tone jamming were made and found to agree well with theory. The effects were examined of three different time windows: rectangular, Kaiser Bessel alpha = 1.6, and one intermediate between these two. The intermediate window is promising because of low window loss combined with good adjacent channel interference tolerance.

  14. Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children.

    PubMed

    Desurkar, A; Lin, J-P; Mills, K; Al-Sarraj, S; Jan, W; Jungbluth, H; Wraige, E

    2009-04-01

    Charcot-Marie-Tooth (CMT) disease is genetically heterogeneous and subdivided into demyelinating (CMT 1) and axonal (CMT 2) types based on neurophysiology findings. CMT1A, the commonest form associated with duplication of the PMP22 segment on chromosome 17p, often arises in childhood but is generally a slowly progressive disease. We report 2 children presenting with clinical features of an acute inflammatory demyelinating polyneuropathy (AIDP) who were subsequently diagnosed with underlying CMT1A. Both children had neurophysiology and histopathology features consistent with CMT1. Immunoglobulin treatment was initiated considering the evidence of superimposed inflammation and appeared to modify disease progression. Our findings indicate that CMT1A predisposes to a superimposed inflammatory neuropathy. Recognition of this association is difficult, particularly in children without clear family history, but of great importance as immunomodulatory treatment may improve outcome. In addition, we postulate that an underlying genetic polyneuropathy should be suspected if the recovery from AIDP is slower than expected, or incomplete. PMID:19809938

  15. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

    PubMed

    Manganelli, Fiore; Tozza, Stefano; Pisciotta, Chiara; Bellone, Emilia; Iodice, Rosa; Nolano, Maria; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, Lucio

    2014-12-01

    The objective of this study is to assess the genetic distribution of Charcot-Marie-Tooth (CMT) disease in Campania, a region of Southern Italy. We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases. Genetic diagnosis was achieved in 148 patients (75.1%) with a higher success rate in HNPP and CMT1 than CMT2. Only four genes (PMP22, GJB1, MPZ, and GDAP1) accounted for 92% of all genetically confirmed CMT cases. In CMT1, PMP22 duplication was the most common mutation while the second gene in order of frequency was MPZ in familial and SH3TC2 in isolated cases. In CMT2, GJB1 was the most frequent mutated gene and GJB1 with GDAP1 accounted for almost 3/4 of genetically defined CMT2 patients. The first gene in order of frequency was GJB1 in familial and GDAP1 in isolated cases. In HNPP, the majority of patients harbored the PMP22 gene deletion. The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively. These epidemiological data can help in panel design for our patients' population. PMID:25429913

  16. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

    PubMed Central

    Høyer, Helle; Braathen, Geir J.; Busk, Øyvind L.; Holla, Øystein L.; Svendsen, Marit; Hilmarsen, Hilde T.; Strand, Linda; Skjelbred, Camilla F.; Russell, Michael B.

    2014-01-01

    Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive. Thus, more efficient and less costly methods are needed in clinical diagnostics. We included a population based sample of 81 CMT families. Gene mutations had previously been identified in 22 families; the remaining 59 families were analysed by next-generation sequencing. Thirty-two CMT genes and 19 genes causing other inherited neuropathies were included in a custom panel. Variants were classified into five pathogenicity classes by genotype-phenotype correlations and bioinformatics tools. Gene mutations, classified certainly or likely pathogenic, were identified in 37 (46%) of the 81 families. Point mutations in known CMT genes were identified in 21 families (26%), whereas four families (5%) had point mutations in other neuropathy genes, ARHGEF10, POLG, SETX, and SOD1. Eleven families (14%) carried the PMP22 duplication and one family carried a MPZ duplication (1%). Most mutations were identified not only in known CMT genes but also in other neuropathy genes, emphasising that genetic analysis should not be restricted to CMT genes only. Next-generation sequencing is a cost-effective tool in diagnosis of CMT improving diagnostic precision and time efficiency. PMID:25025039

  17. Perk Ablation Ameliorates Myelination in S63del-Charcot-Marie-Tooth 1B Neuropathy.

    PubMed

    Musner, Nicolò; Sidoli, Mariapaola; Zambroni, Desireè; Del Carro, Ubaldo; Ungaro, Daniela; D'Antonio, Maurizio; Feltri, Maria L; Wrabetz, Lawrence

    2016-04-01

    In peripheral nerves, P0 glycoprotein accounts for more than 20% of myelin protein content. P0 is synthesized by Schwann cells, processed in the endoplasmic reticulum (ER) and enters the secretory pathway. However, the mutant P0 with S63 deleted (P0S63del) accumulates in the ER lumen and induces a demyelinating neuropathy in Charcot-Marie-Tooth disease type 1B (CMT1B)-S63del mice. Accumulation of P0S63del in the ER triggers a persistent unfolded protein response. Protein kinase RNA-like endoplasmic reticulum kinase (PERK) is an ER stress sensor that phosphorylates eukaryotic initiation factor 2 alpha (eIF2alpha) in order to attenuate protein synthesis. We have shown that increasing phosphophorylated-eIF2alpha (P-eIF2alpha) is a potent therapeutic strategy, improving myelination and motor function in S63del mice. Here, we explore the converse experiment:Perkhaploinsufficiency reduces P-eIF2alpha in S63del nerves as expected, but surprisingly, ameliorates, rather than worsens S63del neuropathy. Motor performance and myelin abnormalities improved in S63del//Perk+/- compared with S63del mice. These data suggest that mechanisms other than protein translation might be involved in CMT1B/S63del neuropathy. In addition,Perkdeficiency in other cells may contribute to demyelination in a non-Schwann-cell autonomous manner. PMID:27095827

  18. Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients

    SciTech Connect

    Su, Ying; Li, Lanying; Lepercq, J.; Lebo, R.V. ); Brooks, D.G.; Ravetch, J.V. ); Trofatter, J.A. )

    1993-11-15

    The autosomal dominant of Charcot-Marie-Tooth disease (CMT), whose gene is type 1B (CMT1B), has slow nerve conduction with demyelinated Schwann cells. In this study the abundant peripheral myelin protein zero (MPZ) gene, MPZ, was mapped 130 kb centromeric to the Fc receptor immunoglobulin gene cluster in band 1q22, and a major MPZ point mutation was found to cosegregate with CMT1B in one large CMT1B family. The MPZ point mutation in 18 of 18 related CMT1B pedigree 1 patients converts a positively charged lysine in codon 96 to a negatively charged glutamate. The same MPZ locus cosegregates with the CMT1B disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at [theta] = 0.00] with a splice junction mutation. Both mutations occur in MPZ protein regions otherwise conserved identically in human, rat, and cow since these species diverged 100 million years ago. MPZ protein, expressed exclusively in myelinated peripheral nerve Schwann cells, constitutes >50% of myelin protein. These mutations are anticipated to disrupt homophilic MPZ binding and result in CMT1B peripheral nerve demyelination.

  19. 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

  20. Determination of evaporation and seepage losses, Upper Lake Mary near Flagstaff, Arizona

    USGS Publications Warehouse

    Blee, J.W.

    1988-01-01

    Two mass-transfer equations were developed to compute evaporation as a part of the evaporation were seepage-loss study for the Upper Lake Mary Reservoir near Flagstaff, Arizona, which has a capacity of 15,620 acre-feet and a surface area of 876 acres. The mass-transfer equations do not require an independent measure of evaporation to define the mass-transfer coefficient. Data from other evaporation studies were used to define the mass-transfer coefficient as a function of wind shear and atmospheric stability. Long-term seepage losses were determined by use of a seepage-probability curve-derived from a stage-seepage relation and defined by several selected short-term water budgets-and a lake-stage probability curve. Seepage curves were derived for several different amounts of assumed reservoir sealing. The long-term water saving that would result from each increment of lake-bottom sealing were computed. The study revealed that the evaporation loss was 27 percent of 2 ,100 acre-feet per year of the total reservoir inflow during 1950-71; seepage loss was 45 percent or 3,500 acre-feet per year. (USGS)

  1. Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

    PubMed

    Kim, Sung Min; Lee, Jinho; Yoon, Bo Ram; Kim, Ye Jin; Choi, Byung-Ok; Chung, Ki Wha

    2015-02-01

    Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous hereditary motor and sensory neuropathy signified by a distal symmetric polyneuropathy. The most frequent subtype is type 1A (CMT1A) caused by duplication in chromosome 17p12 that includes PMP22. This study reports a woman with a family history of CMT1A due to PMP22 duplication. However, she presented with a more severe phenotype than her sibling or ancestors and was found to have a PMP22 triplication instead of the duplication. This was caused by de novo mutation on her affected mother's duplication chromosome. Her lower limb magnetic resonance imaging revealed severe diffused atrophy and fatty replacement. However, her affected sister with typical PMP22 duplication showed almost intact lower limb. Triplication patient's median motor nerve conduction velocity was far lower compared with her sister. Her onset age was faster (8 years) than her sister (42 years). CMT1A triplication might be generated by a female-specific chromosomal rearrangement mechanism that is different from the frequent paternal-originated CMT1A duplication. It also suggests that the wide phenotypic variation of CMT1A might be partly caused by unstable genomic rearrangement, including PMP22 triplication. PMID:25500726

  2. Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

    PubMed

    Brockmann, Knut; Dreha-Kulaczewski, Steffi; Dechent, Peter; Bönnemann, Carsten; Helms, Gunther; Kyllerman, Marten; Brück, Wolfgang; Frahm, Jens; Huehne, Kathrin; Gärtner, Jutta; Rautenstrauss, Bernd

    2008-07-01

    Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI) investigations were performed in four unrelated patients aged 7 to 38 years with early onset axonal CMT neuropathy. Three distinct and so far undescribed MFN2 mutations were detected. Two patients had secondary macrocephaly and mild diffuse predominantly periventricular white matter alterations on MRI. In addition, one boy had symmetrical T2-hyperintensities in both thalami. Two patients had optic atrophy, one of them with normal MRI. In three patients proton MRS revealed elevated concentrations of total N-acetyl compounds (neuronal marker), total creatine (found in all cells) and myo-inositol (astrocytic marker) in cerebral white and gray matter though with regional variation. These alterations were most pronounced in the two patients with abnormal MRI. DTI of these patients revealed mild reductions of fractional anisotropy and mild increase of mean diffusivity in white matter. The present findings indicate an enhanced cellular density in cerebral white matter of MFN2 neuropathy which is primarily due to a reactive gliosis without axonal damage and possibly accompanied by mild demyelination. PMID:18425620

  3. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

    PubMed

    Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Rasic, Vedrana Milic; Baets, Jonathan; Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolic, Milos; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G; Taroni, Franco; Lunn, Michael P; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzińska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M; Houlden, Henry

    2014-11-01

    Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were identified. Further sequencing revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations. IGHMBP2 mutations usually lead to spinal muscular atrophy with respiratory distress type 1 (SMARD1), where most infants die before 1 year of age. The individuals with CMT2 described here, have slowly progressive weakness, wasting and sensory loss, with an axonal neuropathy typical of CMT2, but no significant respiratory compromise. Segregating IGHMBP2 mutations in CMT2 were mainly loss-of-function nonsense in the 5' region of the gene in combination with a truncating frameshift, missense, or homozygous frameshift mutations in the last exon. Mutations in CMT2 were predicted to be less aggressive as compared to those in SMARD1, and fibroblast and lymphoblast studies indicate that the IGHMBP2 protein levels are significantly higher in CMT2 than SMARD1, but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP2 protein levels. PMID:25439726

  4. Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.

    PubMed

    Zhu, Hong; Guariglia, Sara; Yu, Raymond Y L; Li, Wenjing; Brancho, Deborah; Peinado, Hector; Lyden, David; Salzer, James; Bennett, Craig; Chow, Chi-Wing

    2013-06-01

    Charcot-Marie-Tooth (CMT) disease is an inherited neurological disorder. Mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE) account for the rare autosomal-dominant demyelination in CMT1C patients. Understanding the molecular basis of CMT1C pathogenesis is impeded, in part, by perplexity about the role of SIMPLE, which is expressed in multiple cell types. Here we show that SIMPLE resides within the intraluminal vesicles of multivesicular bodies (MVBs) and inside exosomes, which are nanovesicles secreted extracellularly. Targeting of SIMPLE to exosomes is modulated by positive and negative regulatory motifs. We also find that expression of SIMPLE increases the number of exosomes and secretion of exosome proteins. We engineer a point mutation on the SIMPLE allele and generate a physiological mouse model that expresses CMT1C-mutated SIMPLE at the endogenous level. We find that CMT1C mouse primary embryonic fibroblasts show decreased number of exosomes and reduced secretion of exosome proteins, in part due to improper formation of MVBs. CMT1C patient B cells and CMT1C mouse primary Schwann cells show similar defects. Together the data indicate that SIMPLE regulates the production of exosomes by modulating the formation of MVBs. Dysregulated endosomal trafficking and changes in the landscape of exosome-mediated intercellular communications may place an overwhelming burden on the nervous system and account for CMT1C molecular pathogenesis. PMID:23576546

  5. 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

  6. 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.

  7. 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

  8. 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.

  9. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

    PubMed Central

    2013-01-01

    Background Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: severe neonatal presentation with cardiomyopathy, hepatic form with recurrent hypoketotic hypoglycemia, and later-onset axonal sensory neuropathy with episodic myoglobinuria. Methods To identify the causative and characterize clinical features of a Korean family with motor and sensory neuropathies, whole exome study (WES), histopathologic study of distal sural nerve, and lower limb MRIs were performed. Results WES revealed that a compound heterozygous mutation in HADHB is the causative of the present patients. The patients exhibited an early-onset axonal sensorimotor neuropathy without episodic myoglobinuria, and showed typical clinical and electrophysiological features of CMT including predominant distal muscle weakness and atrophy. Histopathologic findings of sural nerve were compatible with an axonal CMT neuropathy. Furthermore, they didn’t exhibit any other symptoms of the previously reported HADHB patients. Conclusions These data implicate that mutation in HADHB gene can also cause early-onset axonal CMT instead of typical manifestations in mitochondrial trifunctional protein (MTP) deficiency. Therefore, this study is the first report of a new subtype of autosomal recessive axonal CMT by a compound heterozygous mutation in HADHB, and will expand the clinical and genetic spectrum of HADHB. PMID:24314034

  10. A pilot study of proximal strength training in Charcot-Marie-Tooth disease.

    PubMed

    Ramdharry, Gita M; Pollard, Alexander; Anderson, Cheryl; Laurá, Matilde; Murphy, Sinead M; Dudziec, Magdalena; Dewar, Elizabeth L; Hutton, Elspeth; Grant, Robert; Reilly, Mary M

    2014-12-01

    Gait analysis of people with Charcot-Marie-Tooth (CMT) disease revealed proximal adaptive gait strategies to compensate for foot drop. We previously demonstrated that hip flexor muscle fatigue can limit walking endurance. This pilot study used a single-blinded cross over design to investigate the effect of a 16-week home-based programme of resistance training on hip flexor muscle strength. Measures of walking endurance, gait speed, exertion, fatigue, and general activity were also recorded. The exercise protocol was based on American College of Sports Medicine recommendations. A mixed effects model was used for analysis. Twenty-six people finished the study, with average reported exercise participation of 93%. No negative effects of exercise were observed. Significant increase in hip flexor muscle strength was observed on the left, but not the right. No changes were observed in walking speed and endurance measures. This pilot study of home-based resistance training showed a modest improvement in hip strength but only on one side. The lack of a more significant improvement and no improvement in walking measures suggests that this training protocol may not be optimal for people with CMT and that patients may need to stratified differently for training studies in CMT. PMID:25582960

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

    PubMed

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

    2014-12-15

    Hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth (CMT) diseases are the most common degenerative disorders of the peripheral nervous system. However, the frequency of the different subtypes varies within distinct populations. Although more than seventy clinical and genetic forms are known to date, more than 80% of CMT patients in Western countries have genetic abnormalities associated with PMP22, MPZ, MFN2 and GJB1. Given the considerable genetic heterogeneity of CMT, we emphasize the interest of both clinical and pathological specific features such that focused genetic testing could be performed. In this regard, peripheral nerve lesions in GDAP1 mutations (AR CMT1A), such as mitochondrial abnormalities, have been newly demonstrated. Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we propose a simplified classification such as AR CMT1 (A, B, C …), and AR CMT2 for axonal forms. Also, we stress that next generation sequencing techniques, now considered to be the most efficient methods of genetic testing in CMT, will be helpful in molecular diagnosis and research of new genes involved. Finally, while no effective therapy is known to date, ongoing new therapeutic trials such as PXT3003 (a low dose combination of the three already approved drugs baclofen, naltrexone, and D-sorbitol) give hopes for potential curative treatment. PMID:25454638

  12. 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. PMID:26423936

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

    PubMed Central

    Juárez, Paula; Palau, Francesc

    2012-01-01

    In the peripheral nervous system disorders plasticity is related to changes on the axon and Schwann cell biology, and the synaptic formations and connections, which could be also a focus for therapeutic research. Charcot-Marie-Tooth disease (CMT) represents a large group of inherited peripheral neuropathies that involve mainly both motor and sensory nerves and induce muscular atrophy and weakness. Genetic analysis has identified several pathways and molecular mechanisms involving myelin structure and proper nerve myelination, transcriptional regulation, protein turnover, vesicle trafficking, axonal transport and mitochondrial dynamics. These pathogenic mechanisms affect the continuous signaling and dialogue between the Schwann cell and the axon, having as final result the loss of myelin and nerve maintenance; however, some late onset axonal CMT neuropathies are a consequence of Schwann cell specific changes not affecting myelin. Comprehension of molecular pathways involved in Schwann cell-axonal interactions is likely not only to increase the understanding of nerve biology but also to identify the molecular targets and cell pathways to design novel therapeutic approaches for inherited neuropathies but also for most common peripheral neuropathies. These approaches should improve the plasticity of the synaptic connections at the neuromuscular junction and regenerate cell viability based on improving myelin and axon interaction. PMID:22745917

  14. Charcot-Marie-Tooth 1A: A narrative review with clinical and anatomical perspectives.

    PubMed

    McGrath, M C

    2016-07-01

    Charcot-Marie-Tooth 1A (CMT1A) is regarded as the most common hereditary peripheral neurodegenerative disorder. This narrative review highlights perspectives around the historically well-established and characteristic anatomical manifestations of CMT1A seen in the feet, legs and hands, in addition to a clinical diagnosis that may be confirmed by electrophysiology, genetic or molecular markers together with the presence of a typical family history. A less well-known perspective is the potential for systemic manifestations and wider complication. The condition is characterised by a progressive clinical picture with unmistakable anatomical and neurological features that have been described since the late 19th century. There remains no cure although supportive, rehabilitative, and surgical regimes may provide helpful management or amelioration of symptoms. Most recently, the emergence of a pleotherapeutic approach suggests distinct promise. Future research focused on a detailed elucidation of the underlying molecular mechanisms underpinning myelin and axonal function may eventually hold the key to successful treatment of CMT1A. Genetic modification would potentially present a cure. Clin. Anat. 29:547-554, 2016. © 2015 Wiley Periodicals, Inc. PMID:26457477

  15. How do Mutations in GJB1 Cause X-linked Charcot-Marie-Tooth Disease?

    PubMed Central

    Kleopa, Kleopas A.; Abrams, Charles K.; Scherer, Steven S.

    2012-01-01

    The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive weakness, atrophy, and sensory abnormalities that are most pronounced in the distal extremities. Some patients have CNS manifestations. Affected males have moderate to severe symptoms, whereas heterozygous females are usually less affected. Neurophysiology shows intermediate slowing of conduction and length-dependent axonal loss. Nerve biopsies show more prominent axonal degeneration than de/remyelination. Mutations in GJB1, the gene that encodes the gap junction (GJ) protein connexin32 (Cx32) cause CMT1X; more than 400 different mutations have been described. Many Cx32 mutants fail to form functional GJs, or form GJs with abnormal biophysical properties. Schwann cells and oligodendrocytes express Cx32, and the GJs formed by Cx32 play an important role in the homeostasis of myelinated axons. Animal models of CMT1X demonstrate that loss of Cx32 in myelinating Schwann cells causes a demyelinating neuropathy. Effective therapies remain to be developed. PMID:22771394

  16. 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.

  17. 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).

  18. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

    PubMed Central

    Liao, Yi-Chu; Liu, Yo-Tsen; Tsai, Pei-Chien; Chang, Chia-Ching; Huang, Yen-Hua; Soong, Bing-Wen; Lee, Yi-Chung

    2015-01-01

    Background Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive. Methodology and Principal Findings Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability. Conclusion GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. These findings broaden the mutational spectrum of GARS and also highlight the importance of considering GARS mutations as a disease cause in patients with early-onset neuropathies. PMID:26244500

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

    PubMed Central

    Bergoffen, J; Trofatter, J; Pericak-Vance, M A; Haines, J L; Chance, P F; Fischbeck, K H

    1993-01-01

    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). PMID:8430694

  20. Charged Particle Dose Measurements by the Odyssey/MARIE Instrument in Mars Orbit and Model Calculations

    NASA Technical Reports Server (NTRS)

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

    2004-01-01

    Knowledge of the space radiation environment is crucial both for human space exploration, and robotic space missions. It is likely that human explorers will return to the moon, and then go to Mars within the next thirty years. The radiation environment that they will encounter is a significant obstacle to future exploration, and must be dealt with successfully before longterm human missions outside of the magnetosphere can take place. Shielding technologies and materials must be developed to lower the dose and dose equivalent that human beings will receive on such missions. To begin this development, a fairly complete and accurate understanding of the space environment must be obtained. The major components of the space particle radiation environment that are most hazardous to humans are: galactic cosmic rays (GCR), the particles contained in solar particle events, (SPE), and secondary particles generated in material in the spacecraft itself. The intensity of the GCR varies by roughly a factor of two over the eleven-year solar cycle, inversely with the level of solar activity. These GCR particles are fully stripped nuclei, predominantly protons and helium, but also significant numbers of heavier ions, including carbon, oxygen, and iron. Since the ionization caused by nuclei passing through matter is proportional to the square of its charge (Z=10). The MARIE instrument has been described elsewhere.

  1. Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

    PubMed

    Pérez-Garrigues, Herminio; Sivera, Rafael; Vílchez, Juan Jesús; Espinós, Carmen; Palau, Francesc; Sevilla, Teresa

    2014-07-01

    Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness. The objective of the current study is to determine whether the imbalance in CMT4C is caused only by reduced proprioceptive input or if vestibular nerve involvement is an additional factor. We selected 10 CMT4C patients and 10 age-matched and sex-matched controls. We performed a comprehensive evaluation of the vestibular system, including video Head Impulse Test, bithermal caloric test, galvanic stimulation test and skull vibration-induced nystagmus test. None of the patients experienced dizziness, spontaneous or gaze-evoked nystagmus, but all had significant vestibular impairment when tested when compared to controls. Seven had completely unexcitable vestibular systems and abnormal vestibuloocular reflex. There was no correlation between the degree of vestibulopathy and age or clinical severity. Significant vestibular impairment is a consistent finding in CMT4C and is present early in disease evolution. The profound imbalance that is so disabling in these patients may result from a combination of proprioceptive loss and vestibular neuropathy, and this would modify the recommended rehabilitation strategies. PMID:24614092

  2. 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.

  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. 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

  5. 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.

  6. Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model.

    PubMed

    Norreel, J C; Jamon, M; Riviere, G; Passage, E; Fontes, M; Clarac, F

    2001-04-01

    Different features of motor behaviour were studied on a transgenic mouse model of Charcot-Marie-Tooth's disease (CMT). Mutants with 4 or 7 copies of the human PMP22 gene leading to a phenotype significantly close to CMT's disease type 1A were compared with control animals. The aim of the study was to validate this transgenic model and to characterise the impairments occurring in the various lines. Three main types of analysis were performed in 2-month-old mice without any peculiar visible deficit: (i) a study of standardised clinical tests (SHIRPA protocol) demonstrated that only a few motor deficits were expressed; (ii) a measurement of general spontaneous activity by means of a commercial video-tracking system was performed and revealed that the main spontaneous activities were identical in the three lines with, however, some slight localised modifications; and, (iii) by contrast, the three lines respond very differently to the footprints, grip strength, splay test and rotarod test. Even in lines with a significantly limited copy number of the transgene, we observed and quantified impairments. In conclusion, mutants of CMT1A seem to be a very pertinent model of this human pathology and will certainly be useful for therapeutic procedures and for theoretical studies on this disease. PMID:11328356

  7. 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. PMID:25842560

  8. [Phenotypes of Charcot-Marie-Tooth Syndrome and Differential Diagnosis Focused in Inflammatory Neuropathies].

    PubMed

    Iijima, Masahiro

    2016-01-01

    Charcot-Marie-Tooth disease (CMT), the most frequent form of inherited neuropathy, is a genetically heterogeneous syndrome of the peripheral nervous system with a rather homologous clinical phenotype (slowly progressive distal weakness and muscle atrophy, skeletal deformities, and areflexia in each limb). CMT1 is the autosomal-dominant demyelinating form, and CMT1A (mostly PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressure palsies), CMT1B, or CMT2. As CMT is characterized by slowly progressive motor and sensory disturbances in each limb, it could be misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) occasionally. Some points can distinguish demyelinating CMT from CIDP. CMT1 patients do not show the conduction block that is frequent in CIDP. In addition, ultrasonographic findings are useful because CMT1 suggests diffuse enlargement of peripheral nerves, whereas CIDP is characterized by asymmetrical or focal enlargement of peripheral nerves. Some CMT1 cases show favorable responses to immunomodulating therapeutics such as corticosteroids, IVIg, and plasma exchange. Such CIDP-like CMT1 (especially CMT1B or CMT2A) shows moderate to high levels of cerebrospinal fluid protein and infiltrated inflammatory macrophages. PMID:26764297

  9. [Treatment for Patients with Charcot-Marie-Tooth Disease: Orthopaedic Aspects].

    PubMed

    Watanabe, Kota

    2016-01-01

    The orthopedic manifestations in patients with Charcot-Marie-Tooth disease include deformity and dysfunction of the extremities and spine. Conservative treatment is the first choice. Orthosis and rehabilitation can improve function, and are important for the prevention of joint contractures. Foot problems are most commonly observed and require surgical treatment. Foot deformities include pes cavus, cavovarus, claw toes, or drop foot. Single or combined surgeries selected for soft tissues are plantar release, tendon transfer, or Achilles tendon lengthening, and those for bones are osteotomies and joint fusions. The upper limb initially demonstrates loss of power of the intrinsic hand muscles followed by symmetrical atrophy of the forearm muscle groups. The typical hand deformity is claw hand. Tendon transfer, joint fusion, soft tissue release, or nerve decompression procedures are performed for correction of hand deformities. Acetabular dysplasia in the hip joints is sometimes observed and osteotomy is selected as surgical treatment in such cases. The associated spinal deformity is scoliosis with or without kyphosis. Similar to treatment of idiopathic scoliosis, posterior spinal fusion is performed in patients with progressive spinal deformities. PMID:26764299

  10. Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjects.

    PubMed

    Lencioni, T; Rabuffetti, M; Piscosquito, G; Pareyson, D; Aiello, A; Di Sipio, E; Padua, L; Stra, F; Ferrarin, M

    2014-09-01

    The aim of the present study was to assess postural stabilization skill in adult subjects affected by Charcot-Marie-Tooth disease (CMT) type 1A. For this purpose ground reaction force (GRF) was measured by means of a piezoelectric force platform during the sit-to-stand (STS) movement, until a steady state erect posture was achieved. Specific indexes to quantify Centre of Mass acceleration, both during postural stabilization and during quiet standing, were computed using a mathematical model. Forty-seven CMT1A subjects were recruited for the study, and the control group was formed by forty-one age- and sex-matched healthy subjects. The results show that CMT1A subjects are less stable than controls during the quiet stance. Greater difficulty (high values of Yinf, the final instability rate) to maintain erect posture appears to be mainly associated with plantar-flexor muscle weakness, rather than to damage of the proprioceptive system. The worst performances shown by CMT1A subjects in the stabilization phase (high values of I, the global index of postural stabilization performance) seem to be associated with reduced muscle strength and the loss of large sensory nerve fibres. Distal muscle weakness appears to affect both postural stabilization and quiet erect posture. The presented protocol and the analysis of postural stabilization parameters provide useful information on CMT1A balance disorders. PMID:25082324

  11. 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

  12. 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

  13. Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.

    PubMed

    Wang, Rui; He, Jin; Li, Jin-Jing; Ni, Wang; Wu, Zhi-Ying; Chen, Wan-Jin; Wang, Yi

    2015-12-01

    The aim of this study was to determine the clinical features and frequencies of genetic subtypes in a series of patients with Charcot-Marie-Tooth (CMT) disease from Eastern China. Patients were divided into three subtypes, CMT1, CMT2 and hereditary neuropathy with liability to pressure palsy (HNPP), according to their electrophysiological manifestations. Multiplex ligation-dependent probe analysis (MLPA) was performed to detect duplications/deletions in the PMP22 gene. The coding regions and splice sites of the GJB1, MPZ, MFN2 and GDAP-1 genes were determined by direct sequencing. Among the 148 patients in the study, 37.2% of the cases had mutations in genes assessed. The mutation detection rate was higher in patients with family histories than in spontaneous cases. PMP22 duplication (13.5%) was predominant in this group of patients, followed by PMP22 deletion (11.5%), and point mutations in GJB1 (8.8%), MPZ (2.0%) and MFN2 (0.7%). Three novel mutations (c.151T>C and c.310 A>G in GJB1 and c.1516 C>G in MFN2) were detected. A small deletion in PMP22 exon 4 was detected in a patient with severe CMT1. Genetic tests have great value in CMT patients with family histories. The frequency of PMP22 duplications was lower in Asian patients than in others. We suggest that genetic testing strategies in CMT patients should be primarily based on electromyography data. PMID:26454100

  14. 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.

  15. Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases

    PubMed Central

    Dethrage, Lindsey M.; Gore, John C.; Smith, Seth A.; Li, Jun

    2014-01-01

    Objective: The objectives of this study were (1) to develop a novel magnetization transfer ratio (MTR) MRI assay of the proximal sciatic nerve (SN), which is inaccessible via current tools for assessing peripheral nerves, and (2) to evaluate the resulting MTR values as a potential biomarker of myelin content changes in patients with Charcot-Marie-Tooth (CMT) diseases. Methods: MTR was measured in the SN of patients with CMT type 1A (CMT1A, n = 10), CMT type 2A (CMT2A, n = 3), hereditary neuropathy with liability to pressure palsies (n = 3), and healthy controls (n = 21). Additional patients without a genetically confirmed subtype (n = 4), but whose family histories and electrophysiologic tests were consistent with CMT, were also included. The relationship between MTR and clinical neuropathy scores was assessed, and the interscan and inter-rater reliability of MTR was estimated. Results: Mean volumetric MTR values were significantly decreased in the SN of patients with CMT1A (33.8 ± 3.3 percent units) and CMT2A (31.5 ± 1.9 percent units) relative to controls (37.2 ± 2.3 percent units). A significant relationship between MTR and disability scores was also detected (p = 0.01 for genetically confirmed patients only, p = 0.04 for all patients). From interscan and inter-rater reliability analyses, proximal nerve MTR values were repeatable at the slicewise and mean volumetric levels. Conclusions: MTR measurements may be a viable biomarker of proximal nerve pathology in patients with CMT. PMID:25253751

  16. 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. PMID:26456943

  17. Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

    PubMed

    Thomas, Florian P; Guergueltcheva, Velina; Gondim, Francisco A A; Tournev, Ivailo; Rao, Chitharanjan V; Ishpekova, Boryana; Kinsella, Laurence J; Pan, Yi; Geller, Thomas J; Litvinenko, Ivan; De Jonghe, Peter; Scherer, Steven S; Jordanova, Albena

    2016-03-01

    Dominant intermediate Charcot-Marie-Tooth neuropathy subtype C (DI-CMTC) was associated with mutations in the YARS gene, encoding tyrosyl-tRNA synthetase, in two large unrelated Bulgarian and US pedigrees and one sporadic case. Here for the first time we describe the clinical, neurophysiological and histopathological features, and phenotypic differences between these two DI-CMTC families. Twenty-one affected individuals from the US family and 27 from the Bulgarian family were evaluated. The mean age of onset in US subjects was 10.7 years in men and 7.3 years in women, while in the Bulgarian participants it was 18.2 years in men and 33.7 years in women. The course was slowly progressive. Extensor digitorum brevis atrophy was uniform. Atrophy and/or weakness of upper and lower limb muscles were found in over 50 % of the subjects. Nerve conduction studies (NCS) were abnormal in all US adults and five of six children and all Bulgarian patients except one asymptomatic 25-year-old man. Median motor NCS were in the range of 29.5-45.6 m/s in the US family and 24.7-57.8 m/s in the Bulgarian family. Sural sensory nerve action potentials were absent in 14/21 and 4/12 NCS from adult US and Bulgarian participants, respectively. Analysis of sural nerve biopsies from US patients revealed age-dependent morphological changes of axonal degeneration, absence of onion bulbs, and <10 % fibers with segmental remyelination. Our findings provide further insights into the diagnosis and pathology of intermediate CMT. They also extend the phenotypic spectrum of peripheral neuropathies associated with aminoacyl-tRNA synthetase mutations. PMID:26725087

  18. 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.

  19. Ten-Year Experience With Bowel Transplantation at Seoul St. Mary's Hospital.

    PubMed

    Chang, H K; Kim, S Y; Kim, J I; Kim, S I; Whang, J K; Choi, J Y; Park, J M; Jung, E S; Rha, S E; Kim, D G; Moon, I S; Lee, M D

    2016-03-01

    A retrospective review of intestinal transplantation (ITx) at Seoul St. Mary's Hospital was made by collecting clinical data over the past 10 years. Fifteen consecutive cases from 2004 were analyzed. Five children and 10 adults (6 months to 69 years of age) were included. Primary diseases in adults included 4 mesenteric vessel thromboses, 2 strangulations, and 1 each of visceral myopathy, malignant gastrointestinal stromal tumor (GIST), mesenteric lymphangiectasis, and injury. Pediatric cases involved 2 Hirschsprung disease, 2 visceral myopathy, and 1 necrotizing enterocolitis. Three of 7 stomas were closed using a serial transverse enteroplasty procedure before transplantation. The ITx were performed using 3 living-donor Itx, 12 deceased-donor ITx, 14 isolated Itx, and 1 modified multivisceral transplantation. Daclizumab, basiliximab, alemtusumab, or basiliximab with rabbit antithymocyte globulin (rATG) was used for the induction; tacrolimus monotherapy was used as the basic maintenance immunosuppressant; and m-TOR inhibitor was used for renal dysfunction patients. Seven cases of acute cellular rejection were treated with rATG. Three cases of antibody-mediated rejection were treated with rituximab alone or with rituximab and bortezomib combination. There were 4 cases of early mortality within 6 months after Itx. Causes of death were declamping shock, cardiac tamponade with acute cellular rejection, dysmotility, and sepsis. Surgical complications consisted of 1 feeding jejunostomy displacement, and a minor leakage at a colo-colostomy site. One-year survival of the patient and graft was 73.33% (Kaplan-Meier survival curve). Although the total number of ITx is small, its social impact has been remarkable in changing the related laws and reimbursement policy in Korea. PMID:27109981

  20. 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

  1. 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. PMID:23180618

  2. 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

  3. [Carcinoma of Unknown Primary Associated with a Sister Mary Joseph's Nodule--A Case Report].

    PubMed

    Yabe, Nobushige; Murai, Shinji; Yokose, Takahiro; Oto, Ippei; Yoshikawa, Takahisa; Kitasato, Kenjiro; Shimizu, Hirotomo; Kojima, Kenji; Hasegawa, Hirotoshi; Kitagawa, Yuko

    2015-11-01

    A 72-year old woman visited our hospital complaining of an umbilical mass and a foul smell from the umbilical region. During the evaluation, a massive immobile tumor was palpated in the center of the lower abdomen in addition to an umbilical mass with necrosis. Computed tomography (CT) revealed a massive ovarian tumor accompanied by an umbilical tumor and cyst with peritoneal dissemination, metastases in the liver and spleen and a urachal tumor. There were no symptoms or imaging findings of gastrointestinal obstruction. While searching for the primary focus, it was determined that the ovarian tumor was not of ovarian origin. Under these circumstances, colonoscopy was the only remaining diagnostic modality. However, evaluation of the large intestine was impossible due to compression by the tumor, and diverticulosis of the sigmoid colon did not allow smooth insertion of the colonoscope. Therefore, an excisional biopsy of the umbilical tumor was performed. The most likely diagnoses based on the histopathological findings were colorectal cancer and urachal cancer. Therefore , mFOLFOX6 was selected for chemotherapy because it has been reported to be effective against both urachal and colorectal cancer. At the time of writing, good tumor control had been achieved in the lesions evaluated. Cases of Sister Mary Joseph's nodule have sporadically been reported. The most common primary foci for peritoneal metastases are the stomach, pancreas and ovary. However, in the present case, these sites were ruled out and the primary focus remained unidentified, making it difficult to select appropriate treatment. We present this case with a discussion of the literature. PMID:26805190

  4. 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.

  5. 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.

  6. Shield volcanoes of Marie Byrd Land, West Antarctic rift: oceanic island similarities, continental signature, and tectonic controls

    NASA Astrophysics Data System (ADS)

    LeMasurier, Wesley

    2013-06-01

    The Marie Byrd Land volcanic province is largely defined by 18 large (up to ~1,800 km3) alkaline shield volcanoes, each surmounted by a summit section of varied felsic rocks dominated by trachytic flows. They are distributed over a 500 × 800-km block-faulted dome within the West Antarctic rift. The basement contact of volcanic sections is ~500 masl at one site and 3,000 mbsl at another, 70 km away, which illustrates the scale of block faulting but complicates an understanding of volcanic structure. Furthermore, the continental ice sheet buries 16 volcanoes to progressively greater heights inland. However, five are sufficiently exposed to allow meaningful comparisons with alkaline oceanic island volcanoes; these comparisons are used as a guide to estimate the structure of Marie Byrd Land volcanoes. The type example for this study is Mt. Murphy, the most completely exposed volcano. It consists of a 1,400-m section of alkaline basalt overlain by trachyte and benmoreite flows that make up ~7-13 % of the volcano volume. In gross structure and composition, Mt. Murphy is similar to Gran Canaria volcano, Canary Islands, but the percent of felsic rock may be three times that of Gran Canaria, if the estimate is approximately correct. Departures from the oceanic island example are believed to represent the imprint of the Marie Byrd Land lithosphere and tectonic environment on volcano evolution. These include a lack of order in the sequence of felsic rock types, lack of progression toward more silica undersaturated compositions with time, absence of a highly undersaturated mafic resurgent stage, and perhaps, a relatively large volume of felsic rock.

  7. 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. PMID:25131389

  8. 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

  9. Chairman-elect designate eyes the future of health care and the AHA. Interview by Mary A. Grayson.

    PubMed

    Warden, G L

    1993-08-01

    Gail L. Warden, president and CEO of Henry Ford Health System, Detroit, has been named chairman-elect of the American Hospital Association. He will become chairman of the board of trustees in January 1995. In many ways, Warden is the right man at the right time to head the AHA. His integrated system is described as light-years ahead of others in health care. This, plus his background as president and CEO of Group Health Cooperative of Puget Sound, Seattle, makes him one of the field's leading experts on managed care. Warden shared his vision of the future with Mary A. Grayson, Materials Management in Health Care's editorial director. PMID:10127508

  10. 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

  11. Misunderstanding of foot drop in a patient with charcot-marie-tooth disease and lumbar disk herniation.

    PubMed

    Han, Youngmin; Kim, Kyoung-Tae; Cho, Dae-Chul; Sung, Joo-Kyung

    2015-04-01

    We report the case of 57-year-old woman diagnosed with Charcot-Marie-Tooth (CMT) disease and lumbar disk herniation (LDH). She had left leg weakness and foot numbness, foot deformity (muscle atrophy, high arch, and clawed toes). The lumbar spine MRI showed LDH at L4-5. Additionally, electrophysiology results were consistent with chronic peripheral motor-sensory polyneuropathy (axonopathy). In genetic testing, 17p11.2-p12 duplication/deletions characteristic of CMT disease were observed. We confirmed the patient's diagnosis as CMT disease and used conservative treatment. PMID:25932299

  12. Sister Mary Joseph’s nodule as the first sign of pregnancy-associated gastric cancer: A case report

    PubMed Central

    Fill, Sara; Taran, Andrei; Schulz, Hans-Ulrich; Kahl, Stefan; Kalinski, Thomas; Smith, Bobbie; Costa, Serban-Dan

    2008-01-01

    Sister Mary Joseph’s nodule is an inconspicuous and uncommon clinical sign of advanced malignant disease, especially gastric cancer. Pregnancy-associated gastric cancer is an extremely rare condition and can be difficult to diagnose, due to the absence or misinterpretation of symptoms as pregnancy-related. Diagnostic aids, such as a basic chemistry panel and imaging techniques, may not show any abnormalities. We present a case of a 37-year-old pregnant patient whose umbilical nodule was the first presenting physical sign of gastric cancer, which had metastasized throughout the abdominal and pelvic regions. PMID:18240358

  13. 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.

  14. Employment and Disability: Trends and Issues for the 1990's. A Report on the 14th Mary E. Switzer Memorial Seminar (Washington, D.C., May 7-9, 1990).

    ERIC Educational Resources Information Center

    Perlman, Leonard G., Ed.; Hansen, Carl E., Ed.

    This report on the 14th Mary E. Switzer Memorial Seminar addresses trends and prospects for employment of persons with disabilities. The monograph begins with an introduction by Leonard G. Perlman and Carl E. Hansen, a foreword by Richard S. Materson, a list of seminar sponsors and Switzer scholars, a statement on the legacy of Mary Elizabeth…

  15. [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. PMID:26189312

  16. 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.

  17. 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.

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

    NASA Astrophysics Data System (ADS)

    Luyendyk, Bruce; Cisowski, Stan; Smith, Christine; Richard, Steve; Kimbrough, David

    1996-02-01

    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

  20. 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

  1. Environmental baseline and evaluation of the St. Mary's River dredging: Great Lakes-St. Lawrence seaway navigation season extension program. Final report

    SciTech Connect

    Liston, C.R.; Duffy, W.G.; Ashton, D.E.; McNabb, C.D.; Koehler, F.E.

    1980-09-01

    The purpose of this study was to gather a quantitative baseline of biological and chemical data from the Middle Neebish Channel in the St. Marys River and from a site in Lake Huron prior to proposed dredging and dredge-spoil disposal activities. Field data were gathered during February through December 1979.

  2. 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. PMID:10160851

  3. Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients★

    PubMed Central

    Li, Xiaobo; Zi, Xiaohong; Li, Lin; Zhan, Yajing; Huang, Shunxiang; Li, Jin; Li, Xuning; Li, Xigui; Hu, Zhengmao; Xia, Kun; Tang, Beisha; Zhang, Ruxu

    2012-01-01

    We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an ‘onion-like’ structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and ‘mouse-nibbled’-like changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced. PMID:25337104

  4. The Lion and the Lady Revisited: Another Look at the Firing of Mary L. Jones as Los Angeles Public Librarian in 1905.

    ERIC Educational Resources Information Center

    Wiegand, Wayne A.

    1983-01-01

    Recounts events that led to the firing of Mary L. Jones, Director of Los Angeles Public Library (1905) and caught in public crossfire such figures as the mayor, city council, library board of directors, Charles Lummis (Jones's replacement), Susan B. Anthony, Anna Shaw, Herbert Putnam, and Melvil Dewey. (29 references) (EJS)

  5. 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…

  6. 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...

  7. 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

    ... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 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 and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY GENERAL COAST GUARD AREAS, DISTRICTS, SECTORS, MARINE INSPECTION ZONES,...

  8. 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

    ... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 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 and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY GENERAL COAST GUARD AREAS, DISTRICTS, SECTORS, MARINE INSPECTION ZONES,...

  9. 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

    ... 33 Navigation and Navigable Waters 1 2014-07-01 2014-07-01 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 and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY GENERAL COAST GUARD AREAS, DISTRICTS, SECTORS, MARINE INSPECTION ZONES,...

  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 and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY GENERAL COAST GUARD AREAS, DISTRICTS, SECTORS, MARINE INSPECTION ZONES,...

  11. Superfund Record of Decision (EPA Region 5): Cannelton Industries Site, Sault Sainte Marie, MI. (First remedial action), September 1992. Final report

    SciTech Connect

    Not Available

    1992-09-30

    The 75-acre Cannelton Industries site is a former tannery facility located in the Upper Peninsula of Michigan, in Sault Sainte Marie, Chippewa County. Land use in the area is predominantly residential and light industrial, with 400 single-family residences and an elementary school located within 1/2 mile of the site. Nearby residents and the school are connected to the City's municipal water system, the source of which is the Saint Marys River intake, 1 mile upstream of the Cannelton site. The Saint Marys River, which is used both as a drinking water source and for recreational purposes, is adjacent to the lower area of the site. Part of the site lies within the 100-year floodplain of the river, and several wetlands areas surround the site. Additionally, the site overlies two aquifers that are hydraulically connected. From 1900 to 1958, Northwestern Leather Company operated a tannery facility onsite. The plant had no sewer system, and three drains discharged approximately 250,000 gallons per day of chemical waste to the Saint Marys River and adjacent wetlands.

  12. 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…

  13. Amblyomma variegatum in cattle in Marie Galante, French Antilles: prevalence, control measures, and infection by Ehrlichia ruminantium.

    PubMed

    Molia, Sophie; Frebling, Mathieu; Vachiéry, Nathalie; Pinarello, Valérie; Petitclerc, Martial; Rousteau, Alain; Martinez, Dominique; Lefrançois, Thierry

    2008-05-31

    We report Marie Galante as one of the Caribbean islands most heavily infested by the tropical bont tick (TBT) Amblyomma variegatum which is associated with two major diseases of ruminants: heartwater and dermatophilosis. In 2005, a survey was undertaken to assess the prevalence of TBT infestation in cattle, the prevalence of Ehrlichia ruminantium infection in TBTs, and the tick control measures implemented by livestock owners. A random sample of 195 cattle herds out of 1885 recorded on the island was investigated by thoroughly counting adult ticks on each animal and filling a questionnaire. A randomly collected sample of 136 TBTs was tested for infection by E. ruminantium by pCS20 nested PCR. Cattle herd prevalence (hp) was 73.8% for infestation by at least one TBT, 17.9% for infestation by at least one engorged female TBT, and 8.2% for clinical dermatophilosis. Cattle individual prevalence was 42.3% for infestation by at least one TBT, 6.6% for infestation by at least one engorged female TBT, and 2.2% for clinical dermatophilosis. The minimum, maximum and average numbers of TBTs per infested animal were, respectively 1, 108 and 11.5. Prevalence of TBT infection by E. ruminantium was 19.1%. No significant difference in herd prevalence was found among parishes or among ecological zones. For cattle owners treating against ticks (97.9% of all owners), all used aspersion of amitraz and herd prevalence was significantly different among those treating every 1-2-week (hp=69.6%, n=148), and less often than every 2-week (hp=88.6%, n=35) (P=0.031). Of the 42 herd subunits treated less than 4 days before the survey, 27 (64%) were infested with at least one TBT, and 6 (14%) with at least one engorged female TBT. These results indicate a high level of TBT infestation in Marie Galante, the inefficacy of tick treatments currently performed, and the need for an improved tick control strategy. Persisting high levels of infestation in Marie Galante threaten the success of on

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

    PubMed Central

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

    1998-01-01

    X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified the first de novo mutation of the Cx32 gene, consisting of a deletion of a G residue at position 499 in the Cx32 open reading frame. This previously unreported mutation produces a frameshift at position 147 in the protein and introduces a premature stop codon (TAG) at nucleotide 643, which results in the production of a truncated Cx32 molecule. This mutation illustrates the risk of an erroneous diagnosis of autosomal recessive CMT, especially in populations where consanguineous unions are frequent, and its consequences for genetic counselling, which can be avoided by molecular analysis. Images PMID:9541114

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

    PubMed

    Sun, A-Ping; Tang, Lu; Liao, Qin; Zhang, Hui; Zhang, Ying-Shuang; Zhang, Jun

    2015-10-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases. PMID:26692872

  17. 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. PMID:26095846

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

    PubMed Central

    Sun, A-ping; Tang, Lu; Liao, Qin; Zhang, Hui; Zhang, Ying-shuang; Zhang, Jun

    2015-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases. PMID:26692872

  19. 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.

  20. Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots

    PubMed Central

    Onu, David O; Hunn, Andrew W; Peters-Willke, Jens

    2013-01-01

    The coexistence of polyneuropathy which has the definite clinical and electromyographical findings consistent with Charcot-Marie-Tooth (CMT) syndrome and neurofibromatosis type 1 (NF1) has infrequently been reported. We describe a patient with both CMT and NF1, who had multiple neurofibromas involving the entire spinal neural axis. In addition, he had multiple neurofibromas distributed within the ileopsoas and gluteus muscles and subcutaneous tissues. These lesions were detected readily by MRI and the patient underwent successful surgical resection of the largest tumours compressing bilateral C2 nerve roots. To our knowledge, this is the first reported case of CMT syndrome coexisting with NF1 in which multiple neurofibromas involved the entire spinal nerve roots. We discuss the diagnostic and therapeutic challenges, emphasising the role of MRI and electrophysiology in such cases and provide a literature review. PMID:23853192

  1. Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots.

    PubMed

    Onu, David O; Hunn, Andrew W; Peters-Willke, Jens

    2013-01-01

    The coexistence of polyneuropathy which has the definite clinical and electromyographical findings consistent with Charcot-Marie-Tooth (CMT) syndrome and neurofibromatosis type 1 (NF1) has infrequently been reported. We describe a patient with both CMT and NF1, who had multiple neurofibromas involving the entire spinal neural axis. In addition, he had multiple neurofibromas distributed within the ileopsoas and gluteus muscles and subcutaneous tissues. These lesions were detected readily by MRI and the patient underwent successful surgical resection of the largest tumours compressing bilateral C2 nerve roots. To our knowledge, this is the first reported case of CMT syndrome coexisting with NF1 in which multiple neurofibromas involved the entire spinal nerve roots. We discuss the diagnostic and therapeutic challenges, emphasising the role of MRI and electrophysiology in such cases and provide a literature review. PMID:23853192

  2. A chronic leg ulcer presenting with Charcot-Marie-Tooth disease and type 2 diabetes: a case report.

    PubMed

    Ren, Haitao; You, Chuangang; Han, Chunmao

    2013-03-01

    Charcot-Marie-Tooth (CMT) disease is characterized by hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing loss, moderate developmental delay, and gait disturbance. CMT presenting with type 2 diabetes and an ulcer has not been reported. This article reports a man who presented with the symptoms mentioned above and also with a leg ulcer and type 2 diabetes. He was diagnosed with CMT disease based on family history and genetic testing. A skin defect in the left leg had manifested for more than 1 year, and results of initial fasting plasma glucose revealed type 2 diabetes. The evolution of these manifestations, coupled with a slowly progressive weakness, numbness, muscular wasting, and sensory impairment, strongly suggested the co-occurrence of 3 different diseases in the same individual. PMID:23446367

  3. A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris.

    PubMed

    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

  4. 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

  5. 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.

  6. 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. PMID:22606747

  7. Solvation dynamics of a radical ion pair in micro-heterogeneous binary solvents: a semi-quantitative study utilizing MARY line-broadening experiments.

    PubMed

    Pal, Kunal; Grampp, Günter; Kattnig, Daniel R

    2013-10-01

    This work aims at elucidating the mechanism of solvation of a radical ion pair (RIP) in a micro-heterogeneous binary solvent mixture using magnetically affected reaction yield (MARY) spectroscopy. For the exciplex-forming 9,10-dimethylanthracene/N,N-dimethylaniline system a comparative, composition-dependent MARY line-broadening study is undertaken in a heterogeneous (toluene/dimethylsulfoxide) and a quasi-homogenous (propyl acetate/butyronitrile) solvent mixture. The half-saturation field extrapolated to zero-quencher concentration, B(1/2), and the self-exchange rate constants are analyzed in the light of solvent dynamical properties of the mixtures and a dielectric continuum solvation model. The dependence of B(1/2) on the solvent composition is explained by cluster formation giving rise to shortened RIP lifetimes. The results are in qualitative agreement with the continuum solvation model suggesting that it could serve as a theoretical basis for quantitative modeling. PMID:23939826

  8. Lake Ladora and Lake Mary phase 2 data addendum site 2-17 Task No. 20 - lower lakes version 3. 1. Final report

    SciTech Connect

    Not Available

    1988-10-01

    The phase II program for site 2-17, Lakes Ladora and Mary, consisted of 28 borings yielding 84 samples. The borings were placed to investigate metals and volatile organics. Selected samples were analyzed for volatile organics, volatile halogenated organics, volatile hydrocarbons, organochlorine pesticides, DBCP, AS, and HG. The following analytes were detected within or above their respective indicator ranges in Lake Ladora: PPDDE, PPDDT, ALDRN, DLDRN, ENDRN, ISODR, DBCP, CH2CL2, 111TCE, CD, CR, CU, PB, ZN, and AS. The following analytes were detected within or above their respective indicator ranges in Lake Mary: PPDDE, PPDDT, and ALDRN. Results of the phase II sampling program will be assessed as part of the overall analysis for the southern study area report.

  9. 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

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. 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.

  15. 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. PMID:25440412

  16. Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission

    PubMed Central

    Huber, Nina; Guimaraes, Sofia; Schrader, Michael; Suter, Ueli; Niemann, Axel

    2013-01-01

    Mitochondria and peroxisomes can be fragmented by the process of fission. The fission machineries of both organelles share a set of proteins. GDAP1 is a tail-anchored protein of mitochondria and induces mitochondrial fragmentation. Mutations in GDAP1 lead to Charcot-Marie-Tooth disease (CMT), an inherited peripheral neuropathy, and affect mitochondrial dynamics. Here, we show that GDAP1 is also targeted to peroxisomes mediated by the import receptor Pex19. Knockdown of GDAP1 leads to peroxisomal elongation that can be rescued by re-expressing GDAP1 and by missense mutated forms found in CMT patients. GDAP1-induced peroxisomal fission is dependent on the integrity of its hydrophobic domain 1, and on Drp1 and Mff, as is mitochondrial fission. Thus, GDAP1 regulates mitochondrial and peroxisomal fission by a similar mechanism. However, our results reveal also a more critical role of the amino-terminal GDAP1 domains, carrying most CMT-causing mutations, in the regulation of mitochondrial compared to peroxisomal fission. PMID:23628762

  17. Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1

    PubMed Central

    Wu, Ning; Said, Sarita; Sabat, Shyamsunder; Wicklund, Matthew; Stahl, Mark C.

    2015-01-01

    Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy, is a heterogeneous group of disorders best known for causing inherited forms of peripheral neuropathy. The X-linked form, CMTX1, is caused by mutations in the gap junction protein beta 1 (GJB1) gene, expressed both by peripheral Schwann cells and central oligodendrocytes. Central manifestations are known but are rare, and there are few case reports of leukoencephalopathy with transient or persistent neurological deficits in patients with this CMT subtype. Here, we report the case of a man with multiple male and female family members affected by neuropathy who carries a pathologic mutation in GJB1. He has experienced three transient episodes with variable neurological deficits over the course of 7 years with corresponding changes on magnetic resonance imaging (MRI). This case illustrates CMT1X as a rare cause of transient neurological deficit and demonstrates the evolution of associated reversible abnormalities on MRI over time. To the best of our knowledge, this report provides the longest period of serial imaging in a single patient with this condition in the English language literature. PMID:26955336

  18. Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

    PubMed Central

    Liu, Pengfei; Gelowani, Violet; Zhang, Feng; Drory, Vivian E.; Ben-Shachar, Shay; Roney, Erin; Medeiros, Adam C.; Moore, Rebecca J.; DiVincenzo, Christina; Burnette, William B.; Higgins, Joseph J.; Li, Jun; Orr-Urtreger, Avi; Lupski, James R.

    2014-01-01

    Copy-number variations cause genomic disorders. Triplications, unlike deletions and duplications, are poorly understood because of challenges in molecular identification, the choice of a proper model system for study, and awareness of their phenotypic consequences. We investigated the genomic disorder Charcot-Marie-Tooth disease type 1A (CMT1A), a dominant peripheral neuropathy caused by a 1.4 Mb recurrent duplication occurring by nonallelic homologous recombination. We identified CMT1A triplications in families in which the duplication segregates. The triplications arose de novo from maternally transmitted duplications and caused a more severe distal symmetric polyneuropathy phenotype. The recombination that generated the triplication occurred between sister chromatids on the duplication-bearing chromosome and could accompany gene conversions with the homologous chromosome. Diagnostic testing for CMT1A (n = 20,661 individuals) identified 13% (n = 2,752 individuals) with duplication and 0.024% (n = 5 individuals) with segmental tetrasomy, suggesting that triplications emerge from duplications at a rate as high as ∼1:550, which is more frequent than the rate of de novo duplication. We propose that individuals with duplications are predisposed to acquiring triplications and that the population prevalence of triplication is underascertained. PMID:24530202

  19. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

    PubMed

    Tan, Christopher A; Rabideau, Marina; Blevins, Amy; Westbrook, Marjorie Jody; Ekstein, Tali; Nykamp, Keith; Deucher, Anne; Harper, Amy; Demmer, Laurie

    2016-06-01

    Pathogenic variants in the mitofusin 2 gene (MFN2) are the most common cause of autosomal dominant Charcot-Marie-Tooth (CMT2) disease, which is typically characterized by axonal sensorimotor neuropathy. We report on a 7-month-old white female with hypotonia, motor delay, distal weakness, and motor/sensory axonal neuropathy in which next-generation sequencing analysis identified compound heterozygous pathogenic variants (c.2054_2069_1170del and c.392A>G) in MFN2. A review of the literature reveals that sporadic and familial cases of compound heterozygous or homozygous pathogenic MFN2 variants have been infrequently described, which indicates that MFN2 can also be inherited in a recessive manner. This case highlights several clinical findings not typically associated with MFN2 pathogenic variants, including young age of onset and rapidly progressing diaphragmatic paresis that necessitated tracheostomy and mechanical ventilation, and adds to the growing list of features identified in autosomal recessive MFN2-related CMT2. Our patient with MFN2-related CMT2 expands the clinical and mutational spectrum of individuals with autosomal recessive CMT2 and identifies a new clinical feature that warrants further observation. © 2016 Wiley Periodicals, Inc. PMID:26955893

  20. 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

  1. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

    PubMed

    Azzedine, Hamid; Zavadakova, Petra; Planté-Bordeneuve, Violaine; Vaz Pato, Maria; Pinto, Nuno; Bartesaghi, Luca; Zenker, Jennifer; Poirot, Olivier; Bernard-Marissal, Nathalie; Arnaud Gouttenoire, Estelle; Cartoni, Romain; Title, Alexandra; Venturini, Giulia; Médard, Jean-Jacques; Makowski, Edward; Schöls, Ludger; Claeys, Kristl G; Stendel, Claudia; Roos, Andreas; Weis, Joachim; Dubourg, Odile; Leal Loureiro, José; Stevanin, Giovanni; Said, Gérard; Amato, Anthony; Baraban, Jay; LeGuern, Eric; Senderek, Jan; Rivolta, Carlo; Chrast, Roman

    2013-10-15

    Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis of two consanguineous families affected by a medium to late-onset recessive form of intermediate CMT, we identified overlapping regions of homozygosity on chromosome 1p36 with a combined maximum LOD score of 5.4. Molecular investigation of the genes from this region allowed identification of two homozygous mutations in PLEKHG5 that produce premature stop codons and are predicted to result in functional null alleles. Analysis of Plekhg5 in the mouse revealed that this gene is expressed in neurons and glial cells of the peripheral nervous system, and that knockout mice display reduced nerve conduction velocities that are comparable with those of affected individuals from both families. Interestingly, a homozygous PLEKHG5 missense mutation was previously reported in a recessive form of severe childhood onset lower motor neuron disease (LMND) leading to loss of the ability to walk and need for respiratory assistance. Together, these observations indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes (intermediate CMT or LMND) affecting the function of neurons and glial cells. PMID:23777631

  2. 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.

  3. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

    PubMed

    Tamiya, Gen; Makino, Satoshi; Hayashi, Makiko; Abe, Akiko; Numakura, Chikahiko; Ueki, Masao; Tanaka, Atsushi; Ito, Chizuru; Toshimori, Kiyotaka; Ogawa, Nobuhiro; Terashima, Tomoya; Maegawa, Hiroshi; Yanagisawa, Daijiro; Tooyama, Ikuo; Tada, Masayoshi; Onodera, Osamu; Hayasaka, Kiyoshi

    2014-09-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy characterized by clinical and genetic heterogeneity. Although more than 30 loci harboring CMT-causing mutations have been identified, many other genes still remain to be discovered for many affected individuals. For two consanguineous families with CMT (axonal and mixed phenotypes), a parametric linkage analysis using genome-wide SNP chip identified a 4.3 Mb region on 12q24 showing a maximum multipoint LOD score of 4.23. Subsequent whole-genome sequencing study in one of the probands, followed by mutation screening in the two families, revealed a disease-specific 5 bp deletion (c.247-10_247-6delCACTC) in a splicing element (pyrimidine tract) of intron 2 adjacent to the third exon of cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), which is a component of mitochondrial respiratory complex IV (cytochrome c oxidase [COX]), within the autozygous linkage region. Functional analysis showed that expression of COX6A1 in peripheral white blood cells from the affected individuals and COX activity in their EB-virus-transformed lymphoblastoid cell lines were significantly reduced. In addition, Cox6a1-null mice showed significantly reduced COX activity and neurogenic muscular atrophy leading to a difficulty in walking. Those data indicated that COX6A1 mutation causes the autosomal-recessive axonal or mixed CMT. PMID:25152455

  4. A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

    PubMed Central

    Tamiya, Gen; Makino, Satoshi; Hayashi, Makiko; Abe, Akiko; Numakura, Chikahiko; Ueki, Masao; Tanaka, Atsushi; Ito, Chizuru; Toshimori, Kiyotaka; Ogawa, Nobuhiro; Terashima, Tomoya; Maegawa, Hiroshi; Yanagisawa, Daijiro; Tooyama, Ikuo; Tada, Masayoshi; Onodera, Osamu; Hayasaka, Kiyoshi

    2014-01-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy characterized by clinical and genetic heterogeneity. Although more than 30 loci harboring CMT-causing mutations have been identified, many other genes still remain to be discovered for many affected individuals. For two consanguineous families with CMT (axonal and mixed phenotypes), a parametric linkage analysis using genome-wide SNP chip identified a 4.3 Mb region on 12q24 showing a maximum multipoint LOD score of 4.23. Subsequent whole-genome sequencing study in one of the probands, followed by mutation screening in the two families, revealed a disease-specific 5 bp deletion (c.247−10_247−6delCACTC) in a splicing element (pyrimidine tract) of intron 2 adjacent to the third exon of cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), which is a component of mitochondrial respiratory complex IV (cytochrome c oxidase [COX]), within the autozygous linkage region. Functional analysis showed that expression of COX6A1 in peripheral white blood cells from the affected individuals and COX activity in their EB-virus-transformed lymphoblastoid cell lines were significantly reduced. In addition, Cox6a1-null mice showed significantly reduced COX activity and neurogenic muscular atrophy leading to a difficulty in walking. Those data indicated that COX6A1 mutation causes the autosomal-recessive axonal or mixed CMT. PMID:25152455

  5. NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.

    PubMed

    Berciano, José; García, Antonio; Peeters, Kristien; Gallardo, Elena; De Vriendt, Els; Pelayo-Negro, Ana L; Infante, Jon; Jordanova, Albena

    2015-05-01

    The purpose of the study was to describe a pedigree with NEFL E396K mutation associated with a novel dominant intermediate Charcot-Marie-Tooth disease (DI-CMT) phenotype. The pedigree comprised four patients over two generations, aged between 35 and 59 years, who have been serially evaluated since 1993. Their clinical picture was characterized by pes cavus, sensorimotor neuropathy and spastic gait. Both older patients showed ascending leg weakness to involve pelvic musculature. CMT neuropathy score ranged from 14 to 26 (moderate to severe disease). Electrophysiology showed uniform nerve conduction slowing in the intermediate range, both in distal and proximal nerve segments. Multimodal evoked potential and blink reflex studies revealed abnormalities indicative of central sensorimotor pathway dysfunction. On imaging studies of lower-limb musculature, there was massive atrophy of intrinsic foot muscles and to a lesser degree of calves and thighs predominating in muscles innervated by tibial and sciatic nerves. In both patients exhibiting waddling gait, there was atrophy of pelvic muscles mainly involving gluteus medius, gluteus minimus and piriformis. We conclude that NEFL E396K mutation may manifest with a novel DI-CMT phenotype, characterized by simultaneous involvement of the peripheral and central nervous system. PMID:25877835

  6. 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.

  7. 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. PMID:16327083

  8. 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.

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

    PubMed Central

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

    2016-01-01

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

  10. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

    PubMed Central

    Timmerman, Vincent; Strickland, Alleene V.; Züchner, Stephan

    2014-01-01

    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. PMID:24705285

  11. 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.

  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. PMID:24812204

  13. 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. PMID:26786738

  14. 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. PMID:24097559

  15. 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. PMID:26599234

  16. 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). PMID:27039907

  17. 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

  18. Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease

    PubMed Central

    Scott, Patrick; Bruwer, Zandre; Al-Kharusi, Khalsa; Meftah, Douja; Al-Murshedi, Fathiya

    2016-01-01

    Charcot-Marie-Tooth neuropathy type 4B1 (CMT4B1) disease is a rare subtype of CMT4 with reported association of facial weakness, vocal cord paresis, chest deformities, and claw hands. We report the unusual occurrence of optic neuritis and cervical cord schwannoma in a male individual with confirmed CMT4B1 disease. Sequencing of the MTMR2 gene revealed a novel nonsense homozygous mutation c.1768C>T (p.Gln590*). The mutation was identified in affected relatives of the proband and a second, apparently unrelated, family. The rare association of optic neuritis or schwannoma with genetically confirmed CMT1A has been individually observed, but never with recessive CMT. To the best of our knowledge, the occurrence of optic neuritis and cervical cord schwannoma in the same patient has never been reported with any form of CMT including CMT4B1. In similar cases, we recommend immediate medical attention to rule out the possibility of schwannomas in patients with all demyelinating CMT subtypes in case of the development of focal neurological signs or acute worsening of clinical status. PMID:27162595

  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. The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.

    PubMed

    Sinkiewicz-Darol, Elena; Kabzińska, Dagmara; Moszyńska, Izabela; Kochański, Andrzej

    2010-01-01

    Little is known about the molecular background of clinical variability of Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A and HNPP disorders result from duplication and deletion of the PMP22 gene respectively. In a series of studies performed on affected animal transgenic models of CMT1A disease, expression of the PMP22 gene (gene dosage) was shown to correlete with severity of CMT course (gene dosage effect). In this study we hypothesized that single nucleotide polymorphisms (SNPs) located within the 5' regulatory sequence of PMP22 gene may be responsible for the CMT1A/HNPP clinical variability. We have sequenced the PMP22 5' upstream regulatory sequence in a group of 45 CMT1A/HNPP patients harboring the PMP22 duplication (37) /deletion (8). We have identified five SNPs in the regulatory sequence of the PMP22 gene. Three of them i.e. -819C>T, -4785G>T, -4800C>T were detected both in the patients and in the control group. Thus, their pathogenic role in the regulation of the expression of the PMP22 gene seems not to be significant. Two SNPs i.e. -4210T>C and -4759T>A were found only in the CMT patients. Their role in the regulation of the PMP22 gene expression can not be excluded. Additionally we have detected the Thr118Met variant in exon 4 of the PMP22 gene, which was previously reported by other authors, in one patient. We conclude that the 5' regulatory sequence of the PMP22 gene is conserved at the nucleotiode level, however rarely occurring SNPs variant in the PMP22 regulatory sequence may be associated with the gene dosage effect. PMID:20842290

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

    PubMed Central

    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. PMID:26126111

  2. 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.

  3. Receptor-like cytoplasmic kinase MARIS functions downstream of CrRLK1L-dependent signaling during tip growth.

    PubMed

    Boisson-Dernier, Aurélien; Franck, Christina Maria; Lituiev, Dmytro S; Grossniklaus, Ueli

    2015-09-29

    Growing plant cells need to rigorously coordinate external signals with internal processes. For instance, the maintenance of cell wall (CW) integrity requires the coordination of CW sensing with CW remodeling and biosynthesis to avoid growth arrest or integrity loss. Despite the involvement of receptor-like kinases (RLKs) of the Catharanthus roseus RLK1-like (CrRLK1L) subfamily and the reactive oxygen species-producing NADPH oxidases, it remains largely unknown how this coordination is achieved. ANXUR1 (ANX1) and ANX2, two redundant members of the CrRLK1L subfamily, are required for tip growth of the pollen tube (PT), and their closest homolog, FERONIA, controls root-hair tip growth. Previously, we showed that ANX1 overexpression mildly inhibits PT growth by oversecretion of CW material, whereas pollen tubes of anx1 anx2 double mutants burst spontaneously after germination. Here, we report the identification of suppressor mutants with improved fertility caused by the rescue of anx1 anx2 pollen tube bursting. Mapping of one these mutants revealed an R240C nonsynonymous substitution in the activation loop of a receptor-like cytoplasmic kinase (RLCK), which we named MARIS (MRI). We show that MRI is a plasma membrane-localized member of the RLCK-VIII subfamily and is preferentially expressed in both PTs and root hairs. Interestingly, mri-knockout mutants display spontaneous PT and root-hair bursting. Moreover, expression of the MRI(R240C) mutant, but not its wild-type form, partially rescues the bursting phenotypes of anx1 anx2 PTs and fer root hairs but strongly inhibits wild-type tip growth. Thus, our findings identify a novel positive component of the CrRLK1L-dependent signaling cascade that coordinates CW integrity and tip growth. PMID:26378127

  4. 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. PMID:27177999

  5. 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

  6. 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

  7. 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.

  8. Receptor-like cytoplasmic kinase MARIS functions downstream of CrRLK1L-dependent signaling during tip growth

    PubMed Central

    Boisson-Dernier, Aurélien; Franck, Christina Maria; Lituiev, Dmytro S.; Grossniklaus, Ueli

    2015-01-01

    Growing plant cells need to rigorously coordinate external signals with internal processes. For instance, the maintenance of cell wall (CW) integrity requires the coordination of CW sensing with CW remodeling and biosynthesis to avoid growth arrest or integrity loss. Despite the involvement of receptor-like kinases (RLKs) of the Catharanthus roseus RLK1-like (CrRLK1L) subfamily and the reactive oxygen species-producing NADPH oxidases, it remains largely unknown how this coordination is achieved. ANXUR1 (ANX1) and ANX2, two redundant members of the CrRLK1L subfamily, are required for tip growth of the pollen tube (PT), and their closest homolog, FERONIA, controls root-hair tip growth. Previously, we showed that ANX1 overexpression mildly inhibits PT growth by oversecretion of CW material, whereas pollen tubes of anx1 anx2 double mutants burst spontaneously after germination. Here, we report the identification of suppressor mutants with improved fertility caused by the rescue of anx1 anx2 pollen tube bursting. Mapping of one these mutants revealed an R240C nonsynonymous substitution in the activation loop of a receptor-like cytoplasmic kinase (RLCK), which we named MARIS (MRI). We show that MRI is a plasma membrane-localized member of the RLCK-VIII subfamily and is preferentially expressed in both PTs and root hairs. Interestingly, mri-knockout mutants display spontaneous PT and root-hair bursting. Moreover, expression of the MRIR240C mutant, but not its wild-type form, partially rescues the bursting phenotypes of anx1 anx2 PTs and fer root hairs but strongly inhibits wild-type tip growth. Thus, our findings identify a novel positive component of the CrRLK1L-dependent signaling cascade that coordinates CW integrity and tip growth. PMID:26378127

  9. Performance evaluation of optically-preamplified hybrid QPSK M-ary PPM systems with finite extinction ratios

    NASA Astrophysics Data System (ADS)

    Landolsi, Taha; Hassan, Mohamed S.; Elrefaie, Aly F.; Hamid, Sanaa

    2015-10-01

    In this paper, we investigate the impact of finite extinction ratios on the error performance of optically-preamplified homodyne hybrid PDM-QPSK M-ary PPM (PQ-mPPM) systems. The study is carried for symbol sizes M ∈ { 2, 4, …, 1024 } and extinction ratios r ∈ { 10, 15, 20, 25, 30 }dB for probabilities of bit error down to Pb =3-9 , which covers systems with or without forward error correction (FEC). We demonstrate that the probability of slot correct location within a symbol in a PQ-mPPM homodyne system with finite extinction ratios is equal to the probability of symbol correct detection in a direct-detection system with dual polarized noise, with the same extinction ratio and symbol size M. This result is leveraged to compute the probabilities of bit error for the homodyne system using an accurate numerical approach. We show that when the extinction ratio is finite, the probability of slot correct location is decreased which not only increases the probability of bit error in the PPM demodulator subsystem but also leads to an increased probability of bit error in the QPSK demodulator. This results in a situation where systems with higher values of M lose their advantage. For example, at Pb =10-4 , M = 128 and M = 16 require the least signal to noise ratio for the case of r = 30 dB and 20 dB, respectively. The power penalty due to a finite extinction ratio depends on the symbol size M. For instance, at Pb =10-9 , M = 1024, and r = 20 dB, the penalty is δ = 10.6dB . It increases drastically to 22.1 dB for r = 10 dB. For M = 16, it is 0.6 dB and 5 dB for r = 20 dB and r = 10 dB, respectively.

  10. [An autopsy case of neuronal type Charcot-Marie-Tooth disease (HMSN type II) with nerve deafness and psychiatric symptoms].

    PubMed

    Yoshimura, I; Yoshimura, N; Hanazono, T; Usutani, S; Muramoto, Y; Fukushima, Y

    1992-06-01

    The clinical and pathological findings of a 41-year-old male patient with atypical Charcot-Marie-Tooth disease were reported. There were 3 cases of subarachnoid haemorrhage, 2 nerve deafness and 2 hereditary motor and sensory neuropathy (HMSN) in his family. He had suffered from progressive nerve deafness since 5 years old and gait disturbance since 37 years old. He had been admitted to the psychiatric hospital 3 times because of hallucinatory-delusional state and behavior abnormalities. Neurological examinations at 39 years old revealed that he had mental deterioration (IQ 66), nerve deafness, diffuse muscle atrophy, most marked distally, sensory disturbance, areflexia, positive Romberg's sign, orthostatic hypotension, dysphagia and slurred speech. MCV of median nerve was 27.8 m/sec, and SCV was not evoked. EEG revealed nonspecific dysfunction of the brain. He died of ileus-like condition at 41 years old. General autopsy showed haemorrhagic infarction of the jejunum and ileum due to compression of the superior mesenteric artery and vein by an adhesion band of connective tissue formed after previous appendectomy. Neuropathological examinations revealed axonal degeneration and loss of myelinated fibers with schwannosis of anterior and posterior spinal nerve roots as well as peripheral nerves. The posterior roots were more severely affected than the anterior ones. Ganglion cells of the posterior root ganglia showed remarkable degeneration and loss. There was severe degeneration of the posterior columns, especially in the gracilis, of the spinal cord. Nerve cells in the anterior horns and Clarke's columns also displayed conspicuous atrophy or central chromatolysis followed by gliosis. There was slight degeneration of the posterior spinocerebellar tracts.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1389565

  11. 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.

  12. 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

  13. 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

    2014-01-01

    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

  14. 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

  15. 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

    2015-01-01

    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 potential

  16. 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.

  17. 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

  18. 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

  19. 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. PMID:26752306

  20. 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

  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. 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

  3. 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

  4. 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

  5. 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. PMID:24792522

  6. 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.

  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. PMID:21997205

  8. 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.

  9. Comprehensive real-time epidemiological data from respiratory infections in Finland between 2010 and 2014 obtained from an automated and multianalyte mariPOC® respiratory pathogen test.

    PubMed

    Gunell, M; Antikainen, P; Porjo, N; Irjala, K; Vakkila, J; Hotakainen, K; Kaukoranta, S S; Hirvonen, J J; Saha, K; Manninen, R; Forsblom, B; Rantakokko-Jalava, K; Peltola, V; Koskinen, J O; Huovinen, P

    2016-03-01

    Respiratory viruses cause seasonal epidemics every year. Several respiratory pathogens are circulating simultaneously and typical symptoms of different respiratory infections are alike, meaning it is challenging to identify and diagnose different respiratory pathogens based on symptoms alone. mariPOC® is an automated, multianalyte antigen test which allows the rapid detection of nine respiratory infection pathogens [influenza A and B viruses, respiratory syncytial virus (RSV), human metapneumovirus, adenovirus, parainfluenza 1-3 viruses and pneumococci] from a single nasopharyngeal swab or aspirate samples, and, in addition, can be linked to laboratory information systems. During the study period from November 2010 to June 2014, a total of 22,485 multianalyte respi tests were performed in the 14 participating laboratories in Finland and, in total, 6897 positive analyte results were recorded. Of the tested samples, 25 % were positive for one respiratory pathogen, with RSV (9.8 %) and influenza A virus (7.2 %) being the most common findings, and 0.65 % of the samples were multivirus-positive. Only small geographical variations in seasonal epidemics occurred. Our results show that the mariPOC® multianalyte respi test allows simultaneous detection of several respiratory pathogens in real time. The results are reliable and give the clinician a picture of the current epidemiological situation, thus minimising guesswork. PMID:26740322

  10. 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.

  11. 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

  12. Long-term analyses of innervation and neuromuscular integrity in the Trembler-J mouse model of Charcot-Marie-Tooth disease.

    PubMed

    Nicks, Jessica Renee; Lee, Sooyeon; Kostamo, Kathryne Ann; Harris, Andrew Benford; Sookdeo, Amanda M; Notterpek, Lucia

    2013-10-01

    A large fraction of hereditary demyelinating neuropathies, classified as Charcot-Marie-Tooth disease type 1A, is associated with misexpression of peripheral myelin protein 22. In this study, we characterized morphologic and biochemical changes that occur with diseaseprogression in neuromuscular tissue of Trembler-J mice, a spontaneous rodent model of Charcot-Marie-Tooth disease type 1A. Using age-matched, 2- and 10-month-old, wild-type and Trembler-J mice, we observed neuromuscular deficits that progress from distal to proximal regions. The impairments in motor performance are underlined by degenerative events at distal nerve segments and structural alterations at nerve-muscle synapses. Furthermore, skeletal muscle of affected mice showed reduced myofiber diameter, increased expression of the muscle atrophy marker muscle ring-finger protein 1, and fiber type switching. A dietary intervention of intermittent fasting attenuated these progressive changes and supported distal nerve myelination and neuromuscular junction integrity. In addition to the well-characterized demyelination aspects of this model, our investigations identified distinct degenerative events in distal nerves and muscle of affected neuropathic mice. Therefore, therapeutic studies aimed at slowing or reversing the neuropathic features of these disorders should include the examination of muscle tissue, as well as neuromuscular contact sites. PMID:24042197

  13. 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. PMID:22474098

  14. 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)

  15. Agreement between Long Island University and the Arnold & Marie Schwartz College of Pharmacy and Health Sciences, Long Island University Chapter of the American Association of University Professors, 1981-1986.

    ERIC Educational Resources Information Center

    Long Island Univ., Brooklyn, NY.

    The collective bargaining agreement between Long Island University and the Arnold & Marie Schwartz College of Pharmacy and Health Sciences Chapter (50 members) of the American Association of University Professors (AAUP) covering the period November 1, 1981-November 1, 1986 is presented. Items covered in the agreement include: AAUP recognition,…

  16. Agreement between Long Island University and the Arnold & Marie Schwartz College of Pharmacy and Health Sciences, Long Island University Chapter of the American Association of University Professors, October 31, 1986-October 31, 1991.

    ERIC Educational Resources Information Center

    Long Island Univ., Brooklyn, NY.

    The collective bargaining agreement between Long Island University and the Arnold & Marie Schwartz College of Pharmacy and Health Sciences chapter of the American Association of University Professors (AAUP) covering the period October 31, 1986-October 31, 1991 is presented. Items covered in the agreement include: chapter recognition,…

  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 Disabilities" (Peter…

  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. Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.

    PubMed

    Safka Brožková, Dana; Nevšímalová, Soňa; Mazanec, Radim; Rautenstrauss, Bernd; Seeman, Pavel

    2012-08-01

    Charcot-Marie-Tooth neuropathies (CMT) are a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. Selection of candidate disease genes for mutation analysis is sometimes difficult since more than 40 genes and loci are known to be associated with CMT neuropathies. Hence a Czech family Cz-CMT with demyelinating type of autosomal dominant CMT disease was investigated by genome-wide linkage analysis by means of single-nucleotide polymorphism (SNP) arrays. Among 35 regions with linkage, five carried known CMT genes. In the final result a novel early growth response 2 - missense mutation c.1235 A>G, p.Glu412Gly was found. Surprisingly, the more severely affected proband carried an additional heterozygous myelin protein zero variant p.Asp246Asn detected previously, which may modify the phenotype. However, this MPZ variant is benign in heterozygous state alone, because it is also carried by the patient's healthy father. PMID:22546699

  1. Aerial gamma ray and magnetic survey: Minnesota Project, Sault Sainte Marie and Blind River quadrangles, Michigan. Final report. [No known deposits within the study area

    SciTech Connect

    Not Available

    1980-02-01

    The Sault Sainte Marie and Blind River 1/sup 0/ x 2/sup 0/ quadrangles of Michigan are covered almost everywhere (United States only) with Wisconsin age glacial deposits (moraines, outwash, lake deposits, etc.) of variable thickness. Where exposed, bedrock is of Early and Middle Paleozoic age, and consists almost entirely of limestone and dolomite. There are no uranium deposits (or occurrences) known within the study area, though the Elliott Lake quartz pebble conglomerate uranium deposit lies in the Canadian section of the Blind River quadrangle. Magnetic data illustrate relative depth to magnetic basement in the area. Sources appear more shallow to the east. Twelve groups of uranium samples were defined as anomalies and are discussed briefly in this report. None of them are considered significant. Radiometric data indicate a strong contrast in the character of glacial outwash between the eastern and western portions of the upper peninsula region.

  2. Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

    PubMed

    Sagnelli, Anna; Scaioli, Vidmer; Piscosquito, Giuseppe; Salsano, Ettore; Dalla Bella, Eleonora; Gellera, Cinzia; Pareyson, Davide

    2015-10-01

    Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy mainly affecting proximal limb and bulbar muscles. Charcot-Marie-Tooth disease type 1A is an autosomal dominant polyneuropathy due to peripheral myelin protein 22 gene duplication and characterized by slowly progressive distal limb muscle weakness, atrophy and sensory loss with foot deformities. Here we report the co-occurrence of both neuromuscular genetic diseases in the same male patient. Difficulties in climbing stairs and jaw weakness were presenting symptoms consistent with SBMA. However, predominant distal weakness and bilateral pes cavus were rather suggestive of a hereditary polyneuropathy. The combination of two diseases, even if extremely rare, should be considered in the presence of atypical symptoms; in the case of genetic diseases this event may have important implications on family members' counseling. PMID:26298608

  3. A seismic transect across West Antarctica: Evidence for mantle thermal anomalies beneath the Bentley Subglacial Trench and the Marie Byrd Land Dome

    NASA Astrophysics Data System (ADS)

    Lloyd, Andrew J.; Wiens, Douglas A.; Nyblade, Andrew A.; Anandakrishnan, Sridhar; Aster, Richard C.; Huerta, Audrey D.; Wilson, Terry J.; Dalziel, Ian W. D.; Shore, Patrick J.; Zhao, Dapeng

    2015-12-01

    West Antarctica consists of several tectonically diverse terranes, including the West Antarctic Rift System, a topographic low region of extended continental crust. In contrast, the adjacent Marie Byrd Land and Ellsworth-Whitmore mountains crustal blocks are on average over 1 km higher, with the former dominated by polygenetic shield and stratovolcanoes protruding through the West Antarctic ice sheet and the latter having a Precambrian basement. The upper mantle structure of these regions is important for inferring the geologic history and tectonic processes, as well as the influence of the solid earth on ice sheet dynamics. Yet this structure is poorly constrained due to a lack of seismological data. As part of the Polar Earth Observing Network, 13 temporary broadband seismic stations were deployed from January 2010 to January 2012 that extended from the Whitmore Mountains, across the West Antarctic Rift System, and into Marie Byrd Land with a mean station spacing of ~90 km. Relative P and S wave travel time residuals were obtained from these stations as well as five other nearby stations by cross correlation. The relative residuals, corrected for both ice and crustal structure using previously published receiver function models of crustal velocity, were inverted to image the relative P and S wave velocity structure of the West Antarctic upper mantle. Some of the fastest relative P and S wave velocities are observed beneath the Ellsworth-Whitmore mountains crustal block and extend to the southern flank of the Bentley Subglacial Trench. However, the velocities in this region are not fast enough to be compatible with a Precambrian lithospheric root, suggesting some combination of thermal, chemical, and structural modification of the lithosphere. The West Antarctic Rift System consists largely of relative fast uppermost mantle seismic velocities consistent with Late Cretaceous/early Cenozoic extension that at present likely has negligible rift related heat flow. In

  4. Sulfur accumulation in the timbers of King Henry VIII's warship Mary Rose: A pathway in the sulfur cycle of conservation concern

    PubMed Central

    Sandström, Magnus; Jalilehvand, Farideh; Damian, Emiliana; Fors, Yvonne; Gelius, Ulrik; Jones, Mark; Salomé, Murielle

    2005-01-01

    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 ≈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. PMID:16186503

  5. Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease.

    PubMed

    Marque, M; Gardie, B; Bressac de Paillerets, B; Rustin, P; Guillot, B; Richard, S; Bessis, D

    2010-12-01

    Multiple cutaneous and uterine leiomyomatosis (MCUL)/hereditary leiomyomatosis and renal cell cancer (HLRCC) (OMIM 150800/OMIM 605839) is a rare hereditary disorder leading to the development of benign cutaneous and uterine smooth muscle tumours in young adults.(1,2) This disease is characterized by an increased risk of developing renal cell carcinomas.(3) It results from dominantly inherited autosomal mutations in the fumarate hydratase (FH) gene.(4) This gene encodes a Krebs cycle enzyme, present in both cytosolic and mitochondrial compartments, and probably acts as a tumour suppressor gene. We report a 22-year-old man affected by cutaneous leiomyomatosis associated with cutis verticis gyrata, disseminated collagenoma and Charcot-Marie-Tooth disease, who was harbouring the novel FH gene mutation c.821C > T, p.Ala274Val. PMID:20560959

  6. Performance of single and dual-polarized optically preamplified M-ary PPM systems with finite extinction ratios over FSO fading channels

    NASA Astrophysics Data System (ADS)

    Landolsi, Taha; Elrefaie, Aly F.

    2016-05-01

    M-ary pulse position modulation (PPM) systems have been considered in free-space optical (FSO) communications, optical fiber links, and passive optical networks. In this paper, we study the error performance of direct-detection optically preamplified M-ary PPM systems over slowly fading FSO channels. The study considers the combined effects on the probability of bit error, Pb, of channel fading with a given scintillation index, σp2, the transmitter finite extinction ratio, r, and the preamplifier spontaneous emission (ASE) noise. We provide results for both single and dual-polarized systems with symbol sizes M ∈ { 2, 4, …, 1024 } at Pb =10-4 and Pb =10-9. The fading models considered in this study are the exponential, log-normal, and gamma-gamma channels. For single-polarized systems with infinite extinction ratios, we provide closed-form expressions for the bit error probabilities for the three channel models. For the dual-polarized systems we compute them numerically. The results indicate that gamma-gamma fading imposes a more severe penalty than the log-normal case. In this study, the power penalty at Pb =10-9 ranges between 1.8 and 14 dB for the log-normal channel, whereas it ranges between 2.2 and 30.7 dB for the gamma-gamma channel. The study also demonstrates that the power penalty due to the combined effects of transmitter finite r and channel fading is the sum of the penalty due to fading alone and the penalty due to a finite r alone, and that the power penalty for dual-polarized systems is about 0.4 dB larger than single-polarized ones.

  7. Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions.

    PubMed

    Bais, Preeti; Beebe, Kirk; Morelli, Kathryn H; Currie, Meagan E; Norberg, Sara N; Evsikov, Alexei V; Miers, Kathy E; Seburn, Kevin L; Guergueltcheva, Velina; Kremensky, Ivo; Jordanova, Albena; Bult, Carol J; Burgess, Robert W

    2016-01-01

    Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot-Marie-Tooth type 2D neuropathy (CMT2D) is caused by dominant mutations in glycyl tRNA synthetase (GARS). Mutations in the mouse Gars gene result in a genetically and phenotypically valid animal model of CMT2D. How mutations in GARS lead to peripheral neuropathy remains controversial. To identify putative disease mechanisms, we compared metabolites isolated from the spinal cord of Gars mutant mice and their littermate controls. A profile of altered metabolites that distinguish the affected and unaffected tissue was determined. Ascorbic acid was decreased fourfold in the spinal cord of CMT2D mice, but was not altered in serum. Carnitine and its derivatives were also significantly reduced in spinal cord tissue of mutant mice, whereas glycine was elevated. Dietary supplementation with acetyl-L-carnitine improved gross motor performance of CMT2D mice, but neither acetyl-L-carnitine nor glycine supplementation altered the parameters directly assessing neuropathy. Other metabolite changes suggestive of liver and kidney dysfunction in the CMT2D mice were validated using clinical blood chemistry. These effects were not secondary to the neuromuscular phenotype, as determined by comparison with another, genetically unrelated mouse strain with similar neuromuscular dysfunction. However, these changes do not seem to be causative or consistent metabolites of CMT2D, because they were not observed in a second mouse Gars allele or in serum samples from CMT2D patients. Therefore, the metabolite 'fingerprint' we have identified for CMT2D improves our understanding of cellular biochemical changes associated with GARS mutations, but identification of efficacious treatment strategies and elucidation of the disease mechanism will require additional studies. PMID:27288508

  8. Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

    PubMed Central

    Aubart, Mélodie; Gobert, Delphine; Aubart-Cohen, Fleur; Detaint, Delphine; Hanna, Nadine; d’Indya, Hyacintha; Lequintrec, Janine-Sophie; Renard, Philippe; Vigneron, Anne-Marie; Dieudé, Philippe; Laissy, Jean-Pierre; Koch, Pierre; Muti, Christine; Roume, Joelle; Cusin, Veronica; Grandchamp, Bernard; Gouya, Laurent; LeGuern, Eric; Papo, Thomas; Boileau, Catherine; Jondeau, Guillaume

    2014-01-01

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

  9. “Psychosocial Interventions for Cancer Survivors, Caregivers and Family Members—One Size Does Not Fit All: My Perspective as a Young Adult Survivor, Advocate and Oncology Social Worker” a personal reflection by Mary Grace Bontempo - Office of Cancer Survivorship

    Cancer.gov

    “Psychosocial Interventions for Cancer Survivors, Caregivers and Family Members—One Size Does Not Fit All: My Perspective as a Young Adult Survivor, Advocate and Oncology Social Worker” a personal reflection by Mary Grace Bontempo page

  10. The Ross Orogen and Lachlan Fold Belt in Marie Byrd Land, Northern Victoria Land and New Zealand: implication for the tectonic setting of the Lachlan Fold Belt in Antarctica

    USGS Publications Warehouse

    Bradshaw, J.D.

    2007-01-01

    Correlation of the Cambrian Delamerian Orogen of Australia and Ross Orogen of the Transantarctic Mountains widely accepted but the extension of the adjacent Lachlan Orogen into Antarctica is controversial. Outside the main Ross-Delamerian belt, evidence of this orogeny is preserved at Mt Murphy in Marie Byrd Land and the in Takaka Terrane of New Zealand. In all pre-break- configurations of the SW Pacific, these two areas are far removed from the Ross-Delamerian belt. Evidence from conglomerates in the Takaka Terrane, however, shows that in Late Cambrian times it was adjacent to the Ross Orogen. This indicates major tectonic displacements within Gondwana after the Cambrian and before break-up. The Lachlan Orogen formed in an extensional belt in a supra-subduction zone setting and the Cambrian rocks of Marie Byrd Land and New Zealand are interpreted as parts of a rifted continental ribbon on the outboard side of the Lachlan belt.

  11. Mitofusin 2 expression dominates over mitofusin 1 exclusively in mouse dorsal root ganglia - a possible explanation for peripheral nervous system involvement in Charcot-Marie-Tooth 2A.

    PubMed

    Kawalec, Maria; Zabłocka, Barbara; Kabzińska, Dagmara; Neska, Jacek; Beręsewicz, Małgorzata

    2014-01-01

    Mitofusin 2 (Mfn2), a protein of the mitochondrial outer membrane, is essential for mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. Mutations in the mitofusin 2 gene cause axonal Charcot-Marie-Tooth type 2A (CMT2A), an inherited disease affecting peripheral nerve axons. The precise mechanism by which mutations in MFN2 selectively cause the degeneration of long peripheral axons is not known. There is a hypothesis suggesting the involvement of reduced expression of a homologous protein, mitofusin 1 (Mfn1), in the peripheral nervous system, and less effective compensation of defective mitofusin 2 by mitofusin 1. We therefore aimed to perform an analysis of the mitofusin 1 and mitofusin 2 mRNA and protein expression profiles in different mouse tissues, with special attention paid to dorsal root ganglia (DRGs), as parts of the peripheral nervous system. Quantitative measurement relating to mRNA revealed that expression of the Mfn2 gene dominates over Mfn1 mainly in mouse DRG, as opposed to other nervous system samples and other tissues studied. This result was further supported by Western blot evaluation. Both these sets of data confirm the hypothesis that the cellular consequences of mutations in the mitofusin 2 gene can mostly be manifested in the peripheral nervous system. PMID:25574749

  12. Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.

    PubMed

    Said, Gérard; Lacroix, Catherine; Planté-Bordeneuve, Violaine; Messing, Bernard; Slama, Abdelhamid; Crenn, Pascal; Nivelon-Chevallier, Annie; Bedenne, Laurent; Soichot, Pierre; Manceau, E; Rigaud, Daniel; Guiochon-Mantel, Anne; Matuchansky, Claude

    2005-06-01

    We report on four patients with severe polyneuropathy associated with intestinal pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and dystrophic mitochondria in Schwann cells and in endothelial cells in nerve biopsy specimens. Two of these patients had a Charcot-Marie-Tooth (CMT) presentation. All three were heterozygous for a recessively transmitted double substitution in the TP gene: Glu286Lys/Glu289Ala, Asp156Gly/Leu177Pro and Glu289Ala/Gly387Asp. The fourth patient, who was the only patient of this series with an affected sib, had no oculomotor manifestations, nor T2 hyperdense signals on brain MRI, and no TP gene mutation and or morphological abnormalities of mitochondria on electron microscopic examination. He was the only patient of this series with an affected sib. The three patients with the full MNGIE syndrome died before the age of 30 years. Detailed results of nerve pathology show that severe axonal degeneration is associated with segmental abnormalities of the myelin sheath in this syndrome which appears genetically heterogeneous. Our findings suggest that only ophthalmoplegia and hyperdense signals on cerebral MRI are directly related to the mitochondriopathy. PMID:15742109

  13. Nodule de Sœur Marie-Josèphe révélateur de carcinomes digestif et ovarien: à propos de 4 cas

    PubMed Central

    Touré, Papa Souleymane; Tall, Cheikh Tidiane; Dioussé, Pauline; Berthé, Adama; Diop, Madoky Maguatte; Sarr, Mamadou Moustapha; Diop, Balla; Léye, Yakham Mohamed; Diop, Bernard Marcel; Ka, Mamadou Mourtalla

    2015-01-01

    Le nodule de Sœur Marie-Josèphe est une métastase ombilicale d'une tumeur le plus souvent intra-abdominale. C'est un signe clinique rare dont l'incidence est de 1-3% de toutes les néoplasies abdomino-pelviennes, avec un pronostic péjoratif du fait de son retard diagnostique. Nous rapportons quatre observations d'une métastase cutanée ombilicale révélatrice d'un adénocarcinome dont deux pancréatiques, un gastrique et un d'origine ovarienne. Le but de notre travail est de montrer à travers ces quatre cas cliniques, l'intérêt de l'imagerie (tomodensitométrie, échographie) et de la biopsie dans la démarche diagnostique. A travers ces quatre observations nous insistons aussi sur les difficultés diagnostiques et thérapeutiques que pose cette tumeur dans nos pays à ressources limitées. PMID:26958132

  14. Microheliella maris (Microhelida ord. n.), an ultrastructurally highly distinctive new axopodial protist species and genus, and the unity of phylum Heliozoa.

    PubMed

    Yabuki, Akinori; Chao, Ema E; Ishida, Ken-Ichiro; Cavalier-Smith, Thomas

    2012-05-01

    A new heliozoan, Microheliella maris, has sufficiently distinctive ultrastructure to merit a new order, Microhelida. Its 18S and 28S rRNA genes were sequenced earlier under the informal name 'marine microheliozoan'; we here sequenced its Hsp90 gene. A three-gene tree suggests that it is distantly related to centrohelids and others in chromist subkingdom Hacrobia; but it is too divergent to be placed accurately by few genes. Unlike centrohelids, its central spherical centrosome has two concentric granular shells and a dense core devoid of a trilaminar central disc. Microtubules radiate from the centrosomal shells. Unlike centrohelids, axopodia have only three microtubules, fixed basally by dense plasma membrane anchors, and bear terminal and lateral haptosome-like extrusomes. As in the heliomonad Heliomorpha, the centrosome is embedded in a nuclear cavity, and centrosomal microtubules traverse the nucleus inside cytoplasmic channels. A novel filogranular network interconnects mitochondria, ER, and plasma membrane. The microbody is attached to the nucleus and mitochondrion, which has vermicular tubular cristae. We group Microhelida and Heliomonadida, purged of dissimilar flagellates, as a new tubulicristate class Endohelea within phylum Heliozoa. Previously misassigned GenBank 18S rDNA sequences reveal Microhelida as diverse and ancient. We discuss principles underlying the biogenesis and diversity of axopodial patterns. PMID:22153838

  15. Long-Range Structural Effects of a Charcot-Marie-Tooth Disease-Causing Mutation in Human Glycyl-TRNA Synthetase

    SciTech Connect

    Xie, W.; Nangle, L.A.; Zhang, W.; Schimmel, P.; Yang, X.-L.

    2009-06-04

    Functional expansion of specific tRNA synthetases in higher organisms is well documented. These additional functions may explain why dominant mutations in glycyl-tRNA synthetase (GlyRS) and tyrosyl-tRNA synthetase cause Charcot-Marie-Tooth (CMT) disease, the most common heritable disease of the peripheral nervous system. At least 10 disease-causing mutant alleles of GlyRS have been annotated. These mutations scatter broadly across the primary sequence and have no apparent unifying connection. Here we report the structure of wild type and a CMT-causing mutant (G526R) of homodimeric human GlyRS. The mutation is at the site for synthesis of glycyl-adenylate, but the rest of the two structures are closely similar. Significantly, the mutant form diffracts to a higher resolution and has a greater dimer interface. The extra dimer interactions are located {approx}30 {angstrom} away from the G526R mutation. Direct experiments confirm the tighter dimer interaction of the G526R protein. The results suggest the possible importance of subtle, long-range structural effects of CMT-causing mutations at the dimer interface. From analysis of a third crystal, an appended motif, found in higher eukaryote GlyRSs, seems not to have a role in these long-range effects.

  16. The Marine Biological Laboratory (Woods Hole) and the scientific advancement of women in the early 20th century: the example of Mary Jane Hogue (1883-1962).

    PubMed

    Zottoli, Steven J; Seyfarth, Ernst-August

    2015-01-01

    The Marine Biological Laboratory (MBL) in Woods Hole, MA provided opportunities for women to conduct research in the late 19th and early 20th century at a time when many barriers existed to their pursuit of a scientific career. One woman who benefited from the welcoming environment at the MBL was Mary Jane Hogue. Her remarkable career as an experimental biologist spanned over 55 years. Hogue was born into a Quaker family in 1883 and received her undergraduate degree from Goucher College. She went to Germany to obtain an advanced degree, and her research at the University of Würzburg with Theodor Boveri resulted in her Ph.D. (1909). Although her research interests included experimental embryology, and the use of tissue culture to study a variety of cell types, she is considered foremost a protozoologist. Her extraordinary demonstration of chromidia (multiple fission) in the life history of a new species of Flabellula associated with diseased oyster beds is as important as it is ignored. We discuss Hogue's career path and her science to highlight the importance of an informal network of teachers, research advisors, and other women scientists at the MBL all of whom contributed to her success as a woman scientist. PMID:25103622

  17. Parental Synchrony and Nurturance as Targets in an Attachment Based Intervention: Building Upon Mary Ainsworth’s Insights About Mother-Infant Interaction

    PubMed Central

    Bernard, Kristin; Meade, EB; Dozier, Mary

    2013-01-01

    As an astute observer of parent-infant interaction, Mary Ainsworth described and assessed facets of maternal sensitivity, including responsiveness to conditions of infant distress and non-distress. In this paper, we consider the importance of distinguishing between parental sensitivity to children’s distress cues (which we refer to as nurturance) and parental sensitivity to children’s non-distress cues (which we refer to as synchrony). Observations of parents in our intervention, Attachment and Biobehavioral Catch-up (ABC), have led us to believe that distress and non-distress represent distinct contexts in which parents can be differentially sensitive or insensitive in responding. Thus, we have conceptualized nurturance and synchrony as distinct targets of the ABC intervention, and, in deciding how to assess parental sensitivity, we have chosen measures that distinguish between nurturance and synchrony. We describe the strengths and weaknesses of different approaches we have taken to assess parental sensitivity, including diary methodology that we developed for assessing parental nurturance and global measures that we have used for assessing parental synchrony. Finally, we describe a frequency-based coding system that we developed for assessing parental nurturance and synchrony from videotaped intervention sessions. PMID:24299132

  18. Eight-state trellis-coded optical modulation with signal constellations of four-dimensional M-ary quadrature-amplitude modulation.

    PubMed

    Ishimura, Shota; Kikuchi, Kazuro

    2015-03-01

    We apply the eight-state trellis-coded modulation (TCM) using signal constellations of four-dimensional M-ary quadrature-amplitude modulation (4D-MQAM) to optical communication systems for the first time to our knowledge. In the TCM scheme, the free distance of the trellis diagram is equal to the minimum distance between constellation points in partitioned subsets, which enlarges the coding gain effectively. In fact, its asymptotic power efficiency is 3-dB larger than that of the set-partitioned 4D-MQAM (SP-4D-MQAM) format, while their spectral efficiencies are the same. Such theoretical predictions are confirmed through computer simulations on eight-state TCM with constellations of 4D-4QAM (i.e., 4D quadrature phase-shift keying: 4D-QPSK) and 4D-16QAM. In particular, eight-state TCM with 4D-QPSK constellations is practically important because of its simple encoder structure, relatively low computational cost, and high coding gain against dual-polarization QPSK (DP-QPSK) and SP-4D-QPSK. Through measurements of its bit-error rate (BER) performance, we confirm that the coding gain against DP-QPSK is about 3 dB at BER=10(-3). PMID:25836886

  19. INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients.

    PubMed

    Jin, Suqin; Wang, Wei; Wang, Renbin; Lv, He; Zhang, Wei; Wang, Zhaoxia; Jiao, Jinsong; Yuan, Yun

    2015-01-01

    Recently, mutations in the inverted formin 2 (INF2) gene have been indentified in patients with dominant inherited intermediate Charcot-Marie-Tooth neuropathy (DI-CMT) with focal segmental glomerulosclerosis (FSGS). We report clinical and nerve pathological changes in two Chinese patients. Case 1 is 27 years old and presented with distal muscle weakness and atrophy of legs at the age of 13 and renal failure at the age of 26. Three of his family members died due to pure renal failure. Case 2 is 22 years old and presented with distal muscle weakness and atrophy of the legs with transient attacks of difficulty in speaking at age 17. Proteinuria was found by routine urine test at the same time. Sural nerve biopsy revealed moderate-to-severe loss of myelinated fibers with union bulbs and regeneration clusters in both patients. Ultrastructurally, numerous elongated extensions of Schwann cells of unmyelinated fibers could be seen in both patients. INF2 gene mutation screening revealed c.451 T>C in case 1 and c.341 G>A in case 2. This is the first report of Chinese patients with INF2-related DI-CMT. The c.451 T>C mutant was responsible for both isolated FSGS and a dual phenotype of FSGS and neuropathy within one family. Intrafamilial variability can be found with the same INF2 mutation. The CNS manifestations further broadened the clinical spectrum of INF2- associated disorders. PMID:25943269

  20. Geophysical variables and behavior: XCVI. "Experiences" attributed to Christ and Mary at Marmora, Ontario, Canada may have been consequences of environmental electromagnetic stimulation: implications for religious movements.

    PubMed

    Suess, L A; Persinger, M A

    2001-10-01

    Since the year 1992 individuals and groups of people have reported religious experiences near Marmora, Ontario, Canada. The experiences, attributed to Christ or Mary, have occurred near the top of a hill adjacent to an open pit magnetite mine that has been accumulating about 15 million gallons of water per month for more than a decade. During the period between 1992 and 1997 epicentres for local seismic events moved significantly closer to this site. Most of the messages attributed to spiritual beings by "sensitive" individuals occurred one or two days after increased global geomagnetic activity. We suggest that conditions produced by local geophysical and geological properties created the odd lights and induced physiological changes within the thousands of people who visited the area. Direct measurements indicated that weak (0.1 microTesla to 1 microTesla) complex magnetic fields, the temporal patterns of which were similar to the experimental fields we have employed to evoke the sensed presence and altered states within the laboratory, may have been generated within the area. PMID:11769900

  1. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

    PubMed

    Brewer, Megan H; Chaudhry, Rabia; Qi, Jessica; Kidambi, Aditi; Drew, Alexander P; Menezes, Manoj P; Ryan, Monique M; Farrar, Michelle A; Mowat, David; Subramanian, Gopinath M; Young, Helen K; Zuchner, Stephan; Reddel, Stephen W; Nicholson, Garth A; Kennerson, Marina L

    2016-07-01

    With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locus at chromosome Xq26.3-q27.3, all coding mutations were excluded. Using whole genome sequencing we found a large DNA interchromosomal insertion within the CMTX3 locus. The 78 kb insertion originates from chromosome 8q24.3, segregates fully with the disease in the two families, and is absent from the general population as well as 627 neurologically normal chromosomes from in-house controls. Large insertions into chromosome Xq27.1 are known to cause a range of diseases and this is the first neuropathy phenotype caused by an interchromosomal insertion at this locus. The CMTX3 insertion represents an understudied pathogenic structural variation mechanism for inherited peripheral neuropathies. Our finding highlights the importance of considering all structural variation types when studying unsolved inherited peripheral neuropathy cases with no pathogenic coding mutations. PMID:27438001

  2. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

    PubMed Central

    Brewer, Megan H.; Chaudhry, Rabia; Qi, Jessica; Kidambi, Aditi; Drew, Alexander P.; Ryan, Monique M.; Subramanian, Gopinath M.; Young, Helen K.; Zuchner, Stephan; Reddel, Stephen W.; Nicholson, Garth A.; Kennerson, Marina L.

    2016-01-01

    With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locus at chromosome Xq26.3-q27.3, all coding mutations were excluded. Using whole genome sequencing we found a large DNA interchromosomal insertion within the CMTX3 locus. The 78 kb insertion originates from chromosome 8q24.3, segregates fully with the disease in the two families, and is absent from the general population as well as 627 neurologically normal chromosomes from in-house controls. Large insertions into chromosome Xq27.1 are known to cause a range of diseases and this is the first neuropathy phenotype caused by an interchromosomal insertion at this locus. The CMTX3 insertion represents an understudied pathogenic structural variation mechanism for inherited peripheral neuropathies. Our finding highlights the importance of considering all structural variation types when studying unsolved inherited peripheral neuropathy cases with no pathogenic coding mutations. PMID:27438001

  3. Examining hand dominance using dynamometric grip strength testing as evidence for overwork weakness in Charcot-Marie-Tooth disease: a systematic review and meta-analysis.

    PubMed

    Roberts-Clarke, Daniel; Fornusek, Che; Fiatarone Singh, Maria A; Burns, Joshua; Hackett, Daniel A

    2016-09-01

    This systematic review with a meta-analysis of studies was carried out to evaluate the potential of overwork weakness on the basis of grip strength of dominant and nondominant hands in individuals with Charcot-Marie-Tooth disease (CMT). Numerous electronic databases were searched from the earliest records to February 2016. Studies of any design including participants older than 18 years of age with a confirmed diagnosis of CMT that measured grip strength of both hands using dynamometric testing were eligible for inclusion. Of 12 593 articles identified following removal of duplicates, five articles fulfilled the criteria. A total of 166 participants, mostly with CMT1 or CMT2, were described from the studies included. Hand and finger pinch grip strength for the dominant compared with the nondominant hand was not statistically different. There is no definitive evidence that preferential use of the dominant hand in CMT impairs function relative to the nondominant hand. Thus, robust exercise trials of progressive resistance training are needed to understand the extent of adaptations possible and provide evidence of the safety of such regimens. PMID:27177353

  4. The Challenge of Time-Dependent Control of Both Processing and Performance of Materials at the Mesoscale, and the MaRIE Project

    NASA Astrophysics Data System (ADS)

    Barnes, Cris W.

    DOE and NNSA are recognizing a mission need for flexible and reduced-cost product-based solutions to materials through accelerated qualification, certification, and assessment. The science challenge lies between the nanoscale of materials and the integral device scale, at the middle or ''mesoscale'' where interfaces, defects, and microstructure determine the performance of the materials over the lifecycle of the intended use. Time-dependent control of the processing, structure and properties of materials at this scale lies at the heart of qualifying and certifying additive manufactured parts; experimental data of high fidelity and high resolution are necessary to discover the right physical mechanisms to model and to validate and calibrate those reduced-order models in codes on Exascale computers. The scientific requirements to do this are aided by a revolution in coherent imaging of non-periodic features that can be combined with scattering off periodic structures. This drives the need to require a coherent x-ray source, brilliant and high repetition rate, of sufficiently high energy to see into and through the mesoscale. The Matter-Radiation Interactions in Extremes (MaRIE) Project is a proposal to build such a very-high-energy X-ray Free Electron Laser.

  5. A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

    PubMed

    Corrado, L; Magri, S; Bagarotti, A; Carecchio, M; Piscosquito, G; Pareyson, D; Varrasi, C; Vecchio, D; Zonta, A; Cantello, R; Taroni, F; D'Alfonso, S

    2016-08-01

    Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with a heterogeneous genetic background. Here, we describe two CMT1B families with a mild sensory-motor neuropathy and a novel synonymous variant (c.309G > T, p.G103G) in exon 3 of the MPZ gene. Next generation sequencing analysis on a 94 CMT gene panel showed no mutations in other disease genes. In vitro splicing assay and mRNA expression analysis indicated that the c.309T variant enhances a cryptic donor splice site at position c.304 resulting in the markedly increased expression of the r.304_448del alternative transcript in patients' cells. This transcript is predicted to encode a truncated P0 protein (p.V102Cfs11*) lacking the transmembrane domain, thus suggesting a possible haploinsufficiency mechanism for this mutation. This is the third reported synonymous MPZ variant associated with CMT1 and affecting splicing. These data confirm the functional impact of synonymous variants on MPZ splicing and their possible role as disease-causing mutations rather than silent polymorphisms. PMID:27344971

  6. Expression of a dynamin 2 mutant associated with Charcot-Marie-Tooth disease leads to aberrant actin dynamics and lamellipodia formation.

    PubMed

    Yamada, Hiroshi; Kobayashi, Kinue; Zhang, Yubai; Takeda, Tetsuya; Takei, Kohji

    2016-08-15

    Specific mutations in dynamin 2 are linked to Charcot-Marie-Tooth disease (CMT), an inherited peripheral neuropathy. However, the effects of these mutations on dynamin function, particularly in relation to the regulation of the actin cytoskeleton remain unclear. Here, selected CMT-associated dynamin mutants were expressed to examine their role in the pathogenesis of CMT in U2OS cells. Ectopic expression of the dynamin CMT mutants 555Δ3 and K562E caused an approximately 50% decrease in serum stimulation-dependent lamellipodia formation; however, only K562E caused aberrations in the actin cytoskeleton. Immunofluorescence analysis showed that the K562E mutation resulted in the disappearance of radially aligned actin bundles and the simultaneous appearance of F-actin clusters. Live-cell imaging analyses showed F-actin polymers of decreased length assembled into immobile clusters in K562E-expressing cells. The K562E dynamin mutant colocalized with the F-actin clusters, whereas its colocalization with clathrin-coated pit marker proteins was decreased. Essentially the same results were obtained using another cell line, HeLa and NG108-15 cells. The present study is the first to show the association of dynamin CMT mutations with aberrant actin dynamics and lamellipodia, which may contribute to defective endocytosis and myelination in Schwann cells in CMT. PMID:27328317

  7. The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease.

    PubMed

    Lencioni, Tiziana; Piscosquito, Giuseppe; Rabuffetti, Marco; Bovi, Gabriele; Calabrese, Daniela; Aiello, Alessia; Di Sipio, Enrica; Padua, Luca; Diverio, Manuela; Pareyson, Davide; Ferrarin, Maurizio

    2015-08-01

    Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. CMT1 is primarily demyelinating, CMT2 is primarily axonal, and CMTX1 is characterized by both axonal and demyelinating abnormalities. We investigated the role of somatosensory and muscular deficits on quiet standing and postural stabilization in patients affected by different forms of CMT, comparing their performances with those of healthy subjects. Seventy-six CMT subjects (CMT1A, CMT2 and CMTX1) and 41 healthy controls were evaluated during a sit-to-stand transition and the subsequent quiet upright posture by means of a dynamometric platform. All CMT patients showed altered balance and postural stabilization compared to controls. Multivariate analysis showed that in CMT patients worsening of postural stabilization was related to vibration sense deficit and to dorsi-flexor's weakness, while quiet standing instability was related to the reduction of pinprick sensibility and to plantar-flexor's weakness. Our results show that specific sensory and muscular deficits play different roles in balance impairment of CMT patients, both during postural stabilization and in static posture. An accurate evaluation of residual sensory and muscular functions is therefore necessary to plan for the appropriate balance rehabilitation treatment for each patient, besides the CMT type. PMID:26028275

  8. Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.

    PubMed

    Chen, Meiyan; Wu, Jing; Liang, Ning; Tang, Lihui; Chen, Yanhua; Chen, Huishuang; Wei, Wei; Wei, Tianying; Huang, Hui; Yi, Xin; Qi, Ming

    2014-10-01

    Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities and early-onset glaucoma. Since clinical diagnosis alone was insufficient for providing pathogenetic evidence to indicate that the condition belonged to a consanguineous family, we applied whole-exome sequencing to samples from the patient, his parents and his younger brother, assuming that the patient's condition is transmitted in an autosomal recessive pattern. A frame-shift mutation, c.4571delG (P.Gly1524Glufs∗42), was revealed in the CMT4B2-related gene SBF2 (also known as MTMR13, MIM 607697), and this mutation was found to be homozygous in the proband and heterozygous in his parents and younger brother. Together with the results of clinical diagnosis, this case was diagnosed as CMT4B2. Our finding further demonstrates the use of whole-exome sequencing in the diagnosis and treatment of rare diseases. PMID:25462154

  9. Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

    PubMed

    Perez-Siles, Gonzalo; Ly, Carolyn; Grant, Adrienne; Drew, Alexander P; Yiu, Eppie M; Ryan, Monique M; Chuang, David T; Tso, Shih-Chia; Nicholson, Garth A; Kennerson, Marina L

    2016-10-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. An X-linked form of CMT (CMTX6) is caused by a missense mutation (R158H) in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. PDK3 is one of 4 isoenzymes that negatively regulate the activity of the pyruvate dehydrogenase complex (PDC) by reversible phosphorylation of its first catalytic component pyruvate dehydrogenase (designated as E1). Mitochondrial PDC catalyses the oxidative decarboxylation of pyruvate to acetyl CoA and links glycolysis to the energy-producing Krebs cycle. We have previously shown the R158H mutation confers PDK3 enzyme hyperactivity. In this study we demonstrate that the increased PDK3 activity in patient fibroblasts (PDK3(R158H)) leads to the attenuation of PDC through hyper-phosphorylation of E1 at selected serine residues. This hyper-phosphorylation can be reversed by treating the PDK3(R158H) fibroblasts with the PDK inhibitor dichloroacetate (DCA). In the patient cells, down-regulation of PDC leads to increased lactate, decreased ATP and alteration of the mitochondrial network. Our findings highlight the potential to develop specific drug targeting of the mutant PDK3 as a therapeutic approach to treating CMTX6. PMID:27388934

  10. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

    PubMed

    Berciano, José; Peeters, Kristien; García, Antonio; López-Alburquerque, Tomás; Gallardo, Elena; Hernández-Fabián, Arantxa; Pelayo-Negro, Ana L; De Vriendt, Els; Infante, Jon; Jordanova, Albena

    2016-02-01

    The purpose of this study was to describe a pedigree with NEFL N98S mutation associated with a dominant intermediate Charcot-Marie-Tooth disease (DI-CMT) and heterogeneous early-onset phenotype. The pedigree comprised two patients, the proband and her son, aged 38 and 5 years. The proband, evaluated at age 31, showed delayed motor milestones that, as of the second decade, evolved into severe phenotype consisting of sensorimotor neuropathy, pes cavus, clawing hands, gait and kinetic cerebellar ataxia, nystagmus and dysarthria, she being wheelchair bound. By then, a working diagnosis of sporadic early onset cerebellar ataxia with peripheral neuropathy was established. Screening of mutations associated with SCA and autosomal recessive cerebellar ataxias was negative. Her son showed a mild phenotype characterized by delayed motor milestones, and lower-limb hypotonia and areflexia. Electrophysiology in both patients showed nerve conduction slowing in the intermediate range, both in proximal and distal nerve segments, but where compound muscle action potentials exhibited severe attenuation there was conduction slowing down to the demyelinating range. In the proband, cranial magnetic resonance imaging (MRI) showed cerebellar atrophy, electromyography disclosed active denervation in tibialis anterior, and MRI of lower-limb musculature demonstrated widespread and distally accentuated muscle fatty atrophy; furthermore, on water sensitive MRI sequences there was edema of calf muscles. We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia. PMID:26645395

  11. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

    PubMed

    Bergamin, Giorgia; Boaretto, Francesca; Briani, Chiara; Pegoraro, Elena; Cacciavillani, Mario; Martinuzzi, Andrea; Muglia, Maria; Vettori, Andrea; Vazza, Giovanni; Mostacciuolo, Maria Luisa

    2014-09-01

    Charcot-Marie-Tooth (CMT) diseases include a group of clinically heterogeneous inherited neuropathies subdivided into demyelinating (CMT1), axonal (CMT2) and intermediate CMT forms. CMTs are associated with different genes, although mutations in some of these genes may cause both clinical pictures. To date, more than 50 CMT genes have been identified, but more than half of the cases are due to mutations in MFN2, MPZ, GJB1 and PMP22. The aim of this study was to estimate the frequency of disease mutations of these four genes in the axonal form of CMT in order to evaluate their effectiveness in the molecular diagnosis of CMT2 patients. A cohort of 38 CMT2 Italian subjects was screened for mutations in the MFN2, MPZ and GJB1 genes by direct sequencing and for PMP22 rearrangements using the MLPA technique. Overall, we identified 15 mutations, 8 of which were novel: 11 mutations (28.9 %) were in the MFN2 gene, 2 (5.3 %) in MPZ and 2 (5.3 %) in PMP22. No mutations were found in GJB1. Two patients showed rearrangements in the PMP22 gene, which is commonly associated with CMT1 or HNPP phenotypes thus usually not tested in CMT2 patients. By including this gene in the analysis, we reached a molecular diagnosis rate of 39.5 %, which is one of the highest reported in the literature. Our findings confirm the MFN2 gene as the most common cause of CMT2 and suggest that PMP22 rearrangements should be considered in the molecular diagnosis of CMT2 patients. PMID:24819634

  12. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

    PubMed

    Resko, Peter; Radvansky, Jan; Odnogova, Zuzana; Baldovic, Marian; Minarik, Gabriel; Polakova, Helena; Palffy, Roland; Kadasi, Ludevit

    2011-12-01

    Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies are the most commonly inherited neurological disorders in humans, characterized by clinical and genetic heterogeneity. The most prevalent clinical entities belonging to this group of disorders are CMT type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). CMT1A and HNPP are predominantly caused by a 1.5 Mb duplication and deletion in the chromosomal region 17p11.2, respectively, and less frequently by other mutations in the peripheral myelin protein 22 (PMP22) gene. Despite being relatively common diseases, they haven't been previously studied in the Slovak population. Therefore, the aim of this study was to identify the spectrum and frequency of PMP22 mutations in the Slovak population by screening 119 families with CMT and 2 families with HNPP for causative mutations in this gene. The copy number determination of PMP22 resulted in the detection of CMT1A duplication in 40 families and the detection of HNPP deletion in 7 families, 6 of which were originally diagnosed as CMT. Consequent mutation screening of families without duplication or deletion using dHPLC and sequencing identified 6 single base changes (3 unpublished to date), from which only c.327C>A (Cys109X) present in one family was provably causative. These results confirm the leading role of PMP22 mutation analysis in the differential diagnosis of CMT and show that the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population. PMID:22131320

  13. Structure of N-acetyl-L-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor L-arginine bound.

    PubMed

    Zhao, Gengxiang; Haskins, Nantaporn; Jin, Zhongmin; M Allewell, Norma; Tuchman, Mendel; Shi, Dashuang

    2013-08-01

    Maricaulis maris N-acetylglutamate synthase/kinase (mmNAGS/K) catalyzes the first two steps in L-arginine biosynthesis and has a high degree of sequence and structural homology to human N-acetylglutamate synthase, a regulator of the urea cycle. The synthase activity of both mmNAGS/K and human NAGS are regulated by L-arginine, although L-arginine is an allosteric inhibitor of mmNAGS/K, but an activator of human NAGS. To investigate the mechanism of allosteric inhibition of mmNAGS/K by L-arginine, we have determined the structure of the mmNAGS/K complexed with L-arginine at 2.8 Å resolution. In contrast to the structure of mmNAGS/K in the absence of L-arginine where there are conformational differences between the four subunits in the asymmetric unit, all four subunits in the L-arginine liganded structure have very similar conformations. In this conformation, the AcCoA binding site in the N-acetyltransferase (NAT) domain is blocked by a loop from the amino acid kinase (AAK) domain, as a result of a domain rotation that occurs when L-arginine binds. This structural change provides an explanation for the allosteric inhibition of mmNAGS/K and related enzymes by L-arginine. The allosterically regulated mechanism for mmNAGS/K differs significantly from that for Neisseria gonorrhoeae NAGS (ngNAGS). To define the active site, several residues near the putative active site were mutated and their activities determined. These experiments identify roles for Lys356, Arg386, Asn391 and Tyr397 in the catalytic mechanism. PMID:23850694

  14. LITAF Mutations Associated with Charcot-Marie-Tooth Disease 1C Show Mislocalization from the Late Endosome/Lysosome to the Mitochondria

    PubMed Central

    Ferreira Lacerda, Andressa; Hartjes, Emily; Brunetti, Craig R.

    2014-01-01

    Charcot-Marie-Tooth (CMT) disease is one of the most common heritable neuromuscular disorders, affecting 1 in every 2500 people. Mutations in LITAF have been shown to be causative for CMT type 1C disease. In this paper we explore the subcellular localization of wild type LITAF and mutant forms of LITAF known to cause CMT1C (T49M, A111G, G112S, T115N, W116G, L122V and P135T). The results show that LITAF mutants A111G, G112S, W116G, and T115N mislocalize from the late endosome/lysosome to the mitochondria while the mutants T49M, L122V, and P135T show partial mislocalization with a portion of the total protein present in the late endosome/lysosome and the remainder of the protein localized to the mitochondria. This suggests that different mutants of LITAF will produce differing severity of disease. We also explored the effect of the presence of mutant LITAF on wild-type LITAF localization. We showed that in cells heterozygous for LITAF, CMT1C mutants T49M and G112S are dominant since wild-type LITAF localized to the mitochondria when co-transfected with a LITAF mutant. Finally, we demonstrated how LITAF transits to the endosome and mitochondria compartments of the cell. Using Brefeldin A to block ER to Golgi transport we demonstrated that wild type LITAF traffics through the secretory pathway to the late endosome/lysosome while the LITAF mutants transit to the mitochondria independent of the secretory pathway. In addition, we demonstrated that the C-terminus of LITAF is necessary and sufficient for targeting of wild-type LITAF to the late endosome/lysosome and the mutants to the mitochondria. Together these data provide insight into how mutations in LITAF cause CMT1C disease. PMID:25058650

  15. Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy

    PubMed Central

    Civera-Tregón, Azahara; Yndriago, Laura; Pla-Martin, David; Zenker, Jennifer; Cuevas-Martín, Carmen; Estela, Anna; Sánchez-Aragó, María; Forteza-Vila, Jerónimo; Cuezva, José M.; Chrast, Roman; Palau, Francesc

    2015-01-01

    Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating recessive (CMT4A) forms of Charcot-Marie-Tooth (CMT) neuropathy. Loss of function recessive mutations in GDAP1 are associated with decreased mitochondrial fission activity, while dominant mutations result in impairment of mitochondrial fusion with increased production of reactive oxygen species and susceptibility to apoptotic stimuli. GDAP1 silencing in vitro reduces Ca2+ inflow through store-operated Ca2+ entry (SOCE) upon mobilization of endoplasmic reticulum (ER) Ca2+, likely in association with an abnormal distribution of the mitochondrial network. To investigate the functional consequences of lack of GDAP1 in vivo, we generated a Gdap1 knockout mouse. The affected animals presented abnormal motor behavior starting at the age of 3 months. Electrophysiological and biochemical studies confirmed the axonal nature of the neuropathy whereas histopathological studies over time showed progressive loss of motor neurons (MNs) in the anterior horn of the spinal cord and defects in neuromuscular junctions. Analyses of cultured embryonic MNs and adult dorsal root ganglia neurons from affected animals demonstrated large and defective mitochondria, changes in the ER cisternae, reduced acetylation of cytoskeletal α-tubulin and increased autophagy vesicles. Importantly, MNs showed reduced cytosolic calcium and SOCE response. The development and characterization of the GDAP1 neuropathy mice model thus revealed that some of the pathophysiological changes present in axonal recessive form of the GDAP1-related CMT might be the consequence of changes in the mitochondrial network biology and mitochondria–endoplasmic reticulum interaction leading to abnormalities in calcium homeostasis. PMID:25860513

  16. Structure of N-acetyl-L-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor L-arginine bound

    PubMed Central

    Zhao, Gengxiang; Haskins, Nantaporn; Jin, Zhongmin; Allewell, Norma M.; Tuchman, Mendel; Shi, Dashuang

    2013-01-01

    Maricaulis maris N-acetylglutamate synthase/kinase (mmNAGS/K) catalyzes the first two steps in L-arginine biosynthesis and has a high degree of sequence and structural homology to human N-acetylglutamate synthase, a regulator of the urea cycle. The synthase activity of both mmNAGS/K and human NAGS are regulated by L-arginine, although L-arginine is an allosteric inhibitor of mmNAGS/K, but an activator of human NAGS. To investigate the mechanism of allosteric inhibition of mmNAGS/K by L-arginine, we have determined the structure of the mmNAGS/K complexed with L-arginine at 2.8 Å resolution. In contrast to the structure of mmNAGS/K in the absence of L-arginine where there are conformational differences between the four subunits in the asymmetric unit, all four subunits in the L-arginine liganded structure have very similar conformations. In this conformation, the AcCoA binding site in the N-acetyltransferase (NAT) domain is blocked by a loop from the amino acid kinase (AAK) domain, as a result of a domain rotation that occurs when L-arginine binds. This structural change provides an explanation for the allosteric inhibition of mmNAGS/K and related enzymes by L-arginine. The allosterically regulated mechanism for mmNAGS/K differs significantly from that for Neisseria gonorrhoeae NAGS (ngNAGS). To define the active site, several residues near the putative active site were mutated and their activities determined. These experiments identify roles for Lys356, Arg386, Asn391 and Tyr397 in the catalytic mechanism. PMID:23850694

  17. Association of the Charcot-Marie-Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy in NCCTG N08CA (Alliance).

    PubMed

    Boora, Ganesh K; Kulkarni, Amit A; Kanwar, Rahul; Beyerlein, Peter; Qin, Rui; Banck, Michaela S; Ruddy, Kathryn J; Pleticha, Josef; Lynch, Cynthia A; Behrens, Robert J; Züchner, Stephan; Loprinzi, Charles L; Beutler, Andreas S

    2015-10-15

    The predisposition of patients to develop polyneuropathy in response to toxic exposure may have a genetic basis. The previous study Alliance N08C1 found an association of the Charcot-Marie-Tooth disease (CMT) gene ARHGEF10 with paclitaxel chemotherapy induced peripheral neuropathy (CIPN) related to the three non-synonymous, recurrent single nucleotide variants (SNV), whereby rs9657362 had the strongest effect, and rs2294039 and rs17683288 contributed only weakly. In the present report, Alliance N08CA was chosen to attempt to replicate the above finding. N08CA was chosen because it is the methodologically most similar study (to N08C1) performed in the CIPN field to date. N08CA enrolled patients receiving the neurotoxic chemotherapy agent paclitaxel. Polyneuropathy was assessed by serial repeat administration of the previously validated patient reported outcome instrument CIPN20. A study-wide, Rasch type model was used to perform extreme phenotyping in n=138 eligible patients from which "cases" and "controls" were selected for genetic analysis of SNV performed by TaqMan PCR. A significant association of ARHGEF10 with CIPN was found under the pre-specified primary endpoint, with a significance level of p=0.024. As in the original study, the strongest association of a single SNV was seen for rs9657362 (odds ratio=3.56, p=0.018). To further compare results across the new and the previous study, a statistical "classifier" was tested, which achieved a ROC area under the curve of 0.60 for N08CA and 0.66 for N08C1, demonstrating good agreement. Retesting of the primary endpoint of N08C1 in the replication study N08CA validated the association of ARHGEF10 with CIPN. PMID:26143528

  18. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity

    SciTech Connect

    Othmane, K.B.; Loprest, L.J.; Wilkinson, K.M. ); Middleton, L.T. )

    1993-08-01

    Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity. CMT2 is pathologically and genetically distinct from CMT type 1 (CMT1). While CMT1 has been shown to be genetically heterogeneous, no chromosomal localization has been established for CMT2. The authors have performed pedigree linkage analysis in six large autosomal dominant CMT2 families and have demonstrated linkage and heterogeneity to a series of microsatellites (D1S160, D1S170, D1S244, D1S228 and D1S199) in the distal region of the short arm of chromosome 1. Significant evidence for heterogeneity was found using admixture analyses and the two-point lod scores. Admixture analyses using the multipoint results for the markers D1S244, D1S228, and D1S199 supported the two-point findings. Three families, DUK662, DUK1241, and 1523 gave posterior probabilities of 1.0, 0.98, and 0.88 of being of the linked type. Multipoint analysis examining the [open quotes]linked[close quotes] families showed that the most favored location for the CMT2A gene is within the interval flanked by D1S244 and D1S228 (odds approximately 70:1 of lying within versus outside that interval). These findings suggest that the CMT2 phenotype is secondary to at least two different genes and demonstrate further heterogeneity in the CMT phenotype.

  19. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication

    SciTech Connect

    Wise, C.A.; Davis, S.N.; Heju, Z.; Pentao, L.; Patel, P.I.; Lupski, J.R. ); Garcia, C.A. )

    1993-10-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. One form of CMT, CMT type 1A, is characterized by uniformly decreased nerve conduction velocities, usually shows autosomal dominant inheritance, and is associated with a large submicroscopic duplication of the p11.2-p12 region of chromosome 17. A cohort of 75 unrelated patients diagnosed clinically with CMT and evaluated by electrophysiological methods were analyzed molecularly for the presence of the CMT1A DNA duplication. Three methodologies were used to assess the duplication: Measurement of dosage differences between RFLP alleles, analysis of polymorphic (GT)[sub n] repeats, and detection of a junction fragment by pulsed-field gel electrophoresis. The CMT1A duplication was found in 68% of the 63 unrelated CMT patients with electrophysiological studies consistent with CMT type 1 (CMT1). The CMT1A duplication was detected as a de novo event in two CMT1 families. Twelve CMT patients who did not have decreased nerve conduction velocities consistent with a diagnosis of CMT type 2 (CMT2) were found not to have the CMT1A duplication. The most informative molecular method was the detection of the CMT1A duplication-specific junction fragment. Given the high frequency of the CMT1A duplication in CMT patients and the high frequency of new mutations, the authors conclude that a molecular test for the CMT1A DNA duplication is very useful in the differential diagnosis of patients with peripheral neuropathies. 61 refs., 4 figs.

  20. 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

    SciTech Connect

    Blair, I.P.; Nash, J.; Gordon, M.J.; Nicholson, G.A.

    1996-03-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Sporadic cases of CMT have been described since the earliest reports of the disease. The most frequent form of the disorder, CMT1A, is associated with a 1.5-Mb DNA duplication on chromosome 17p11.2, which segregates with the disease. In order to investigate the prevalence of de novo CMT1A duplications, this study examined 118 duplication-positive CMT1A families. In 10 of these families it was demonstrated that the disease had arisen as the result of a de novo mutation. By taking into account the ascertainment of families, it can be estimated that {>=}10% of autosomal dominant CMT1 families are due to de novo duplications. The CMT1A duplication is thought to be the product of unequal crossing over between parental chromosome 17 homologues during meiosis. Polymorphic markers from within the duplicated region were used to determine the parental origin of these de novo duplications in eight informative families. Seven were of paternal and one of maternal origin. This study represents the first report of a de novo duplication with a maternal origin and indicates that it is not a phenomenon associated solely with male meioses. Recombination fractions for the region duplicated in CMT1A are larger in females than in males. That suggests that oogenesis may be afforded greater protection from misalignment during synapsis, and/or that there may be lower activity of those factors or mechanisms that lead to unequal crossing over at the CMT1A locus. 41 refs., 2 figs.