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Sample records for margus punab maris

  1. Mary Leue: A Tribute.

    ERIC Educational Resources Information Center

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

    1999-01-01

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

  2. MARI mini-manual

    NASA Astrophysics Data System (ADS)

    Bennington, S. M.; Eccleston, R. S.

    1994-09-01

    The MARI spectrometer is funded by the Japanese Ministry of Education, Culture and Science (Monbusho) as part of the UK-Japan collaboration in neutron scattering. MARI is a direct geometry chopper spectrometer. It uses a Fermi chopper to monochromatic the incident neutron beam to give incident energies in the range 10 to 2000 meV. It is very similar in design to its sister machine HET, but with a detector bank that continuously covers the angular range from 3 to 135 degrees, MARI is able to map large regions of Q-E space in a single measurement. At present about 600 of the full complement of 1000 detectors are installed. All are 10 bar (3)He gas proportional counters and all come from the same manufacturer, this means that their efficiency and background are almost the same. The beam size at the sample position is 50 by 50 mm, but motorized jaws in the Fermi chopper pit and in the sample tank can be used to reduce this size. Chapter headings are the following: Introduction; The hardware on MARI; Controlling the Instrument; Data Analysis and Visualization; Appendices.

  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. Mary, dogma, and psychoanalysis.

    PubMed

    Todd, E H

    1985-06-01

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

  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 ... Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from ...

  6. 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)

  7. 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

  8. Whatever happened to Mary Ellen?

    PubMed

    Lazoritz, S

    1990-01-01

    It is well recognized that the organized response to child abuse in the United States began with the rescue of a little girl named Mary Ellen from the abuse inflicted upon her by her stepmother. It is often forgotten, however, that Mary Ellen was, indeed, a real child who survived her horrendous start in life and went on to have a meaningful and productive life and raise children of her own.

  9. 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...

  10. 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…

  11. The Education of Mary Antin.

    ERIC Educational Resources Information Center

    Proefriedt, William A.

    1990-01-01

    Historically documents the life and education of Mary Antin from her suffering as a victim of anti-semitism in Russia to her freedom and acceptance in America. Discusses her literary publications which document her development and self-discovery. Explores her experiences as a Jew in early twentieth-century America. (JS)

  12. 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…

  13. 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 ...

  14. Mary and femininity: A psychological critique.

    PubMed

    Harrington, P A

    1984-09-01

    This essay uses Freud to interpret the symbolism and theology of Mary in modern Catholicism. In her role as the mother of believers, Mary functions to place the Christian in the position of a child who receives illusory gratification from the mother. In her role as model for Christians to emulate, Mary functions to place the Christian in the position of receptivity and dependence which Freud associated with femininity. Reinterpreting Freud from a feminist perspective, I suggest that the kind of femininity Mary represents serves to perpetuate patriachal social structures and to inhibit full psychological maturity. PMID:24307075

  15. 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…

  16. 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…

  17. 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

  18. 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.

  19. 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.

  20. Honesty in leadership. Interview by Mary Grayson.

    PubMed

    Priselac, Thomas

    2008-01-01

    The AHA's chair-elect Thomas Priselac talks with Health Forum Publisher and Editorial Director Mary Grayson about health care reform, the role of IT in health care, workforce relations and what it means to be a leader.

  1. Educator Mary McLeod Bethune.

    ERIC Educational Resources Information Center

    Hart, Erin; Ostovich, Marta

    1995-01-01

    This short biography highlights the achievements of Mary McLeod Bethune who started a college for black women in Florida, organized the National Council for Negro Women, and advised President Franklin D. Roosevelt. (LZ)

  2. Radium, Marie Curie and modern science.

    PubMed

    Langevin-Joliot, H

    1998-11-01

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

  3. [When Marie Bonaparte turned a deaf ear].

    PubMed

    Amouroux, Rémy; Stouten, Hanna

    2014-01-01

    Between 1927 and 1931 Marie Bonaparte had herself operated upon her clitoris three times. She did so against Freud's advice with whom she was in analysis. Among psychoanalysts these operations are still often regarded as "errors" or aberrations. But for Marie Bonaparte, who was in various ways familiar with physics and a somatic approach, surgery was the first choice, psychoanalysis only a possible alternative. She was not impressed by the scepticism of her colleagues, and adhered even more emphatically to her own strategy.

  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. Mary Tyler Moore Helps Launch NIH MedlinePlus Magazine

    MedlinePlus

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

  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. 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.

  9. 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,…

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

    ERIC Educational Resources Information Center

    Beasley, Maurine

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

  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. 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…

  13. 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…

  14. Mary Somerville: a scientist and her ship.

    PubMed

    Fara, Patricia

    2008-09-01

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

  15. Mary Glover Lecture 2004: leaving a legacy.

    PubMed

    Reimer, Marlene

    2005-09-01

    Mary Glover was a Head Nurse at St. Paul's Hospital in Vancouver. She was killed in a plane crash more than 25 years ago. Yet, through this neuroscience nurse's passion for her specialty, we share in her legacy through the annual Mary Glover Lecture, which was established by her parents after her death. The first Mary Glover Lecturer was Pamela Mitchell, a well-known neuroscience nurse from the School of Nursing at the University of Washington. She is leaving a multifaceted legacy through her research on intracranial pressure and quality of care as well as her books and her mentorship. Jessie Young has left a legacy as the founder and first president of the Canadian Association of Neuroscience Nurses (CANN). CANN is leaving a legacy with many firsts among Canadian nursing specialty organizations. Leaving a legacy is not just about donating money or writing a famous book. For most of us, our legacy comes in the little everyday things of life. Ask yourself, what is the legacy that you are leaving as a neuroscience nurse and as an individual?

  16. 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.

  17. 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

  18. 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 ...

  19. 33 CFR 162.117 - St. Marys River, Sault Ste. Marie, Michigan.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... north, except the waters of the St. Marys Falls Canal, and to the east along a line from La Pointe to...”—downbound traffic only; (ii) Pipe Island Course from Sweets Point to Watson Reefs Light-downbound traffic only. (iii) Middle Neebish Channel from Buoy “2” to Buoy “76”—upbound traffic only; and (iv)...

  20. 33 CFR 162.117 - St. Marys River, Sault Ste. Marie, Michigan.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... north, except the waters of the St. Marys Falls Canal, and to the east along a line from La Pointe to...”—downbound traffic only; (ii) Pipe Island Course from Sweets Point to Watson Reefs Light-downbound traffic only. (iii) Middle Neebish Channel from Buoy “2” to Buoy “76”—upbound traffic only; and (iv)...

  1. Pediatric Charcot-Marie-Tooth disease.

    PubMed

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

    2015-06-01

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

  2. Marie Curie's contribution to Medical Physics.

    PubMed

    Jean-Claude, Rosenwald; Nüsslin, Fridtjof

    2013-09-01

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

  3. Water resources of St. Mary Parish, Louisiana

    USGS Publications Warehouse

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

    2014-01-01

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

  4. 33 CFR 117.653 - St. Mary's Falls Canal.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false St. Mary's Falls Canal. 117.653... DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Michigan § 117.653 St. Mary's Falls Canal. The draw of... vessel, 1,200 feet or less west of the bridge, unless the vessel is moored at either canal pier...

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

    PubMed

    Mould, R F

    1999-09-01

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

  6. 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...

  7. 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.

  8. 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

  9. 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

  10. Diagnosis of Charcot-Marie-Tooth Disease

    PubMed Central

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

    2009-01-01

    Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data. PMID:19826499

  11. The life and legacy of Marie Curie.

    PubMed

    Rockwell, Sara

    2003-01-01

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

  12. 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)

  13. 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...

  14. 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.

  15. 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.

  16. 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

  17. Exploring the Universe with John Milton and Mary Shelley.

    ERIC Educational Resources Information Center

    Poston, David

    1989-01-01

    Presents an approach to teaching John Milton's "Paradise Lost" in conjunction with Mary Shelley's "Frankenstein." Notes that a study of these works stimulates vigorous discussions on theological and moral issues, human nature, and the cultural past and future. (MM)

  18. 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

  19. 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

  20. 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

  1. 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.

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

    PubMed

    Hanratty, B; Feather, J; Ward, C

    2000-01-01

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

  3. [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.

  4. [Pierre Marie-Sainton cleidocranial dysplasia].

    PubMed

    Diaconescu, Smaranda; Păduraru, Gabriela; Vâscu, Ana-Maria; Burlea, M

    2011-01-01

    The paper presents a family with hereditary transmitted Marie-Sainton dysplasia affecting the father and his both children. This is a rare syndrome presenting an autosomal pattern of inheritance, characterized by a generalized defect in both membranous and endochondral bone formation resulting in clavicular aplasia, delayed ossification of the fontanelles and the sutures of the skull and prolonged retention of deciduous dentition with delayed eruption of the permanent teeth. The diagnosis is suggested by more or less complete clinical picture and confirmed by multiple radiological explorations (skull, thorax, spinal column, pelvis) and genetical examination. The genetic mutation for cleidocranial dysplasia (CCD) is found on chromosome six and is called CBFA1 (short for core biding factor al or RUNX2) and is the only gene known to be associated with CCD. The normal version of CBFA1 acts to induce osteoblasts which are the type of cells that lay down bone. Although associated psychosocial disorders can occur, the prognosis and life expectancy of this condition are favorable being conditioned however by the complexity of orthodontic procedures which are determinant for these patients life quality. PMID:21870721

  5. 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.

  6. 105. Catalog OPark Structure/Construction & Maintenance, 23 Marys Rock Tunnel, ...

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

    105. Catalog O-Park Structure/Construction & Maintenance, 23 Marys Rock Tunnel, Negative No. 6306 ca. late 1930s MARYS ROCK TUNNEL, SOUTH PORTAL. - Skyline Drive, From Front Royal, VA to Rockfish Gap, VA , Luray, Page County, VA

  7. 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.

  8. 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...

  9. 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...

  10. 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...

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

    PubMed

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

    2016-06-01

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

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

    PubMed

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

    2016-06-01

    Charcot-Marie-Tooth disease comprises a group of disorders characterized by progressive muscle weakness and wasting. Reviewing the anaesthetic literature produced conflicting reports about the best anaesthetic options for patients with CMTD; as they are at increased risk of prolonged response to muscle relaxants, malignant hyperthermia and risks of regional anaesthesia. We present a case of the successful use of total intravenous anaesthesia with dexmedetomidine and propofol combined with caudal block using bupivacaine mixed with dexmedetomidine without any complications, for a 17 year old male patient with Charcot Marie-Tooth disease who underwent a lower limb orthopedic surgery. PMID:27487647

  13. 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)

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

    ERIC Educational Resources Information Center

    Larson, Suzanne

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

  15. 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…

  16. 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…

  17. 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

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

    ERIC Educational Resources Information Center

    Pearce, Robert

    1988-01-01

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

  19. 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…

  20. 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…

  1. A Day in the Life of Mary Cassatt.

    ERIC Educational Resources Information Center

    Stoppel, Julie

    2002-01-01

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

  2. 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)

  3. The Antibureaucrat: Mary Graham--Brooklyn Public Library, NY

    ERIC Educational Resources Information Center

    Library Journal, 2004

    2004-01-01

    It is tough to make the staff of a large, highly centralized urban library system believe they should make their own decisions and even take risks--all to serve their community better. But that is what Mary Graham has achieved as Brooklyn Public Library's director of the Office of Neighborhood Services. A study of Brooklyn Public Library (BPL) in…

  4. Mary Boole and curve stitching: a look into heaven.

    PubMed

    Innes, Shelley

    2004-03-01

    Mary Everest Boole had a lifelong interest in the unconscious mind, the psychology of learning, and how these relate to the teaching of mathematics and science. She recommended many practical exercises and teaching aids, one of which was the technique of curve stitching, which she had invented while still a child herself.

  5. 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…

  6. 39. Photographic copy of photographs (orignals in possession of Mary ...

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

    39. Photographic copy of photographs (orignals in possession of Mary A. Vreeland), photographer not stated UPPER LEFT AND RIGHT: DINING ROOM AND PARLOR DECORATED FOR CHRISTMAS, CIRCA 1979 LOWER LEFT: VIEW SOUTHEAST, REAR DOOR, CIRCA 1930s LOWER RIGHT: VIEW NORTHWEST, FRONT ELEVATION, CIRCA 1930s - Cadmus House, 159 Fairfield Avenue, West Caldwell, Essex County, NJ

  7. 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.

  8. 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,…

  9. 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…

  10. 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…

  11. The Early Mary Church Terrell, 1863-1910

    ERIC Educational Resources Information Center

    White, Gloria M.

    1975-01-01

    Asserts that analysis of Mary Terrell's articles, reveals that she succeeded in breaking down myths that justified and perpetuated lynchings and the peonage system in the South, and that she pointed out adverse effects of discrimination and the need for fairness and justice as they related to the treatment of black people. (Author/JM)

  12. 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…

  13. 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

  14. 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

    ... hydroelectric power plant effluence, and waters surrounding the eastern tip of the Northeast Pier. This portion..., Sector Sault Sainte Marie may suspend at any time the enforcement of any safety zone established under this section. (6) The Captain of the Port, Sector Sault Sainte Marie, will notify the public of...

  15. 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

  16. Mary Shelley's Frankenstein: what made the Monster monstrous?

    PubMed

    Britton, Ronald

    2015-02-01

    This paper discusses the genesis of the famous story of Frankenstein which arose from a dream experienced by Mary Shelley whilst on a holiday shared with her husband Percy Shelley, Lord Byron, Dr Polidori and her step sister Claire Clairmont. The novel relates how the creature created by Victor Frankenstein horrifies him, is rejected by him and called a monster. The monster's ensuing despair and subsequent murderousness is eloquently described. The whole book is clearly connected to Mary Shelley's experience as an infant whose mother died after giving birth to her and her subsequent loss, as a mother, of her own new born infant. It is suggested that the novel imaginatively describes what it is to have been primarily rejected as an infant and to feel regarded as a monster. PMID:25610958

  17. Mary Shelley's Frankenstein: what made the Monster monstrous?

    PubMed

    Britton, Ronald

    2015-02-01

    This paper discusses the genesis of the famous story of Frankenstein which arose from a dream experienced by Mary Shelley whilst on a holiday shared with her husband Percy Shelley, Lord Byron, Dr Polidori and her step sister Claire Clairmont. The novel relates how the creature created by Victor Frankenstein horrifies him, is rejected by him and called a monster. The monster's ensuing despair and subsequent murderousness is eloquently described. The whole book is clearly connected to Mary Shelley's experience as an infant whose mother died after giving birth to her and her subsequent loss, as a mother, of her own new born infant. It is suggested that the novel imaginatively describes what it is to have been primarily rejected as an infant and to feel regarded as a monster.

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

    USGS Publications Warehouse

    Nakanishi, Allan S.; Dorava, Joseph M.

    1994-01-01

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

  19. 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.

  20. The St. Marys River, Michigan: An ecological profile

    SciTech Connect

    Duffy, W.G.; Batterson, T.R.; McNabb, C.D.

    1987-05-01

    St. Marys River, the single outlet from Lake Superior, flows between Michigan and Ontario and has formed the International Border between the United States and Canada since 1783. Although the riverbed and a major rapids system have been modified to accommodate commercial navigation and for hydroelectric generation, the St. Marys River retains more of its biological and physicochemical integrity than any other Laurentian Great Lakes connecting channel. This oligotrophic lake's cold, well-oxygenated water contributes >90% of the river's annual flow and has a major influence on the evolution of its biological communities. This monograph reviews the published and unpublished ecological information available for the St. Marys River. The authors begin by reviewing the geologic history, human exploration, and settlement of the region, then proceed to a description of the physical and chamical characteristics of the river. The third chapter describes the biological communities presently inhabiting the river. A fourth chapter synthesizes ecological relationships within the river, emphasizing detrital food webs and trophic interactions. In the final chapter, anthropogenic influences on the river ecosystem are reviewed and various natural resource management strategies suggested.

  1. View of 'Cape St. Mary' from 'Cape Verde'

    NASA Technical Reports Server (NTRS)

    2006-01-01

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

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

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

  2. View of 'Cape St. Mary' from 'Cape Verde' (False Color)

    NASA Technical Reports Server (NTRS)

    2006-01-01

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

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

    The images combined into this mosaic were taken during the 970th Martian day, or sol, of Opportunity's Mars-surface mission (Oct. 16, 2006). The panoramic camera took them through the camera's 750-nanometer, 530-nanometer and 430-nanometer filters. The false color enhances subtle color differences among materials in the rocks and soils of the scene.

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

    NASA Technical Reports Server (NTRS)

    2006-01-01

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

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

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

  4. 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

  5. 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.

  6. Britain's Siberia: Mary Coutts's account of the asylum system.

    PubMed

    Beveridge, A

    2005-06-01

    This paper examines a pamphlet entitled Britain's Siberia. The High Statistics of Insanity Explained by a Certified Lunatic. Research has revealed that the writer was Mary Coutts and that she had been a detained patient in the Aberdeen Royal Asylum. The paper analyses what Coutts had to say about her experiences and compares this to the official asylum records and what they reveal about her inmate stay. The paper also relates Coutts' account to that of other patients who have written about their experiences. As one of the few women to have left a record of life in the asylum, Coutts' story is of particular interest.

  7. Mary Ellen Avery's Research Career - Remembrance of Things Past.

    PubMed

    Torday, John Steven

    2014-01-01

    Mary Ellen Avery's research is recognized as a milestone in biomedical research. She had discovered the underlying cause of hyaline membrane disease, surfactant deficiency, fostering ever more vigorous efforts to reduce neonatal mortality in the burgeoning practice of Neonatology. Neonatology is the only clinical discipline that began as an experiment, making it a model for biomedical research. Avery knew that the concerted effort to treat preterm newborns could potentially do more harm than good, violating her oath to Hippocrates, if not held to the highest scientific standards. She remained true to that pledge throughout her career, as recounted in this Review. PMID:24804189

  8. [Yvonne Marie Rosengart-Famel, her life and pharmaceutical career].

    PubMed

    Patard, Louis

    2010-07-01

    Yvonne Marie Rosengart-Famel (1912-?) is the granddaugther of Pierre Famel, the founder of the Pharmacy and the Laboratoires Famel. After passing her A-Levels in 1929, she trained in pharmacology partly in her grandfather's pharmacy, and partly in the Pharmacy Lefèvre. She was a student at the Faculty of Pharmacy in Paris, where she presented a doctoral thesis on the botanical, chemical and pharmacodynamic studies of several species from the genus Anabasis and Haloxylon. After the death of Pierre Famel she managed the Society of Laboratoires Famel from 1942 to 1963. We lose her trace from this date, when she was in the United States.

  9. 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

  10. Holocene Deglaciation of Marie Byrd Land, West Antarctica

    NASA Astrophysics Data System (ADS)

    Stone, John O.; Balco, Gregory A.; Sugden, David E.; Caffee, Marc W.; Sass, Louis C.; Cowdery, Seth G.; Siddoway, Christine

    2003-01-01

    Surface exposure ages of glacial deposits in the Ford Ranges of western Marie Byrd Land indicate continuous thinning of the West Antarctic Ice Sheet by more than 700 meters near the coast throughout the past 10,000 years. Deglaciation lagged the disappearance of ice sheets in the Northern Hemisphere by thousands of years and may still be under way. These results provide further evidence that parts of the West Antarctic Ice Sheet are on a long-term trajectory of decline. West Antarctic melting contributed water to the oceans in the late Holocene and may continue to do so in the future.

  11. 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.

  12. 33 CFR 207.441 - St. Marys Falls Canal and Locks, Mich.; security.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... material. Cleaning and gas freeing of tanks on all hazardous material cargo vessels (as defined in 49 CFR... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false St. Marys Falls Canal and Locks... OF THE ARMY, DEPARTMENT OF DEFENSE NAVIGATION REGULATIONS § 207.441 St. Marys Falls Canal and...

  13. 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…

  14. 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...

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

    ERIC Educational Resources Information Center

    Bruno, Holly Elissa

    2009-01-01

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

  16. 33 CFR 161.45 - Vessel Traffic Service St. Marys River.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 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....

  17. 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....

  18. "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.…

  19. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

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

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

    Code of Federal Regulations, 2012 CFR

    2012-07-01

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

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

    Code of Federal Regulations, 2014 CFR

    2014-07-01

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

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

    Code of Federal Regulations, 2010 CFR

    2010-07-01

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

  3. 33 CFR 117.353 - Atlantic Intracoastal Waterway, Savannah River to St. Marys River.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

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

  4. 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...

  5. "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…

  6. 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

  7. 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

  8. 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

    2016-06-09

    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.

  9. 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

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

  10. 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.

  11. The mysterious death of America's richest woman in 1917, Mary Lil' (RIP).

    PubMed

    Bailey, James A; Resk, Thomas K

    2008-01-01

    Suspicious circumstances surrounding the death of wealthy socialite Mary Lily "Lil'" Kenan Flagler Bingham in 1917 prompted a secret autopsy conducted by renowned physicians at the request of her relatives. Mrs Bingham, who was formerly married to railroad magnate, Henry Flagler, was among America's richest people at the time of her death. Mary Lil's untimely death occurred approximately six months after her marriage to Judge Robert "Bob" Worth Bingham, a college boyfriend whom she married three years after Flagler's death. In order to establish Mary Lil's medical condition prior to her death, a book about Mary Lil's life written by Pulitzer Prize author, David Chandler and articles from the New York Times; The Louisville Courier Journal, a Kentucky newspaper; and Mary Lil's hometown newspaper, The Morning Star, in Wilmington, North Carolina were examined. Although a team of medical experts performed a secret autopsy following her death and released their findings to her family, the examination and tests results remain undisclosed to the public.

  12. Marie Bonaparte, her first two patients and the literary world.

    PubMed

    Amouroux, Rémy

    2010-08-01

    Marie Bonaparte (1882-1962) played a critical role in the development of psychoanalysis in France. Her clinical activity is not well known yet she was one of the first female French psychoanalysts. The journalist-writers Alice and Valerio Jahier were Bonaparte's first two patients. She conducted this dual analysis with Rudolph Loewenstein (1898-1976). Alice and Valerio exchanged analysts on several occasions. During his analysis, Valerio began corresponding with Italo Svevo (1861-1928), the author of La Coscienza di Zeno, who imparted his doubts on the therapeutic merits of psychoanalysis. Valerio described his difficult analysis in his letters to Svevo. Bonaparte consulted Freud on the subject, but was not able to prevent Valerio's suicide in 1939. The Princess of Greece encouraged Alice in her vocation as a writer and enabled her to benefit from her connections in literary circles. On the margins of this unpublished story of the two analyses, which is based on archived documents recently made available, we discover the importance of the links which were formed - around Marie Bonaparte - between psychoanalysis and literature. In addition to Italo Svevo, we come across the acerbic writer, Maurice Sachs, as well as the famous novelist, Stefan Zweig. PMID:20840644

  13. Fusion materials irradiations at MaRIE's fission fusion facility

    SciTech Connect

    Pitcher, Eric J

    2010-10-06

    Los Alamos National Laboratory's proposed signature facility, MaRIE, will provide scientists and engineers with new capabilities for modeling, synthesizing, examining, and testing materials of the future that will enhance the USA's energy security and national security. In the area of fusion power, the development of new structural alloys with better tolerance to the harsh radiation environments expected in fusion reactors will lead to improved safety and lower operating costs. The Fission and Fusion Materials Facility (F{sup 3}), one of three pillars of the proposed MaRIE facility, will offer researchers unprecedented access to a neutron radiation environment so that the effects of radiation damage on materials can be measured in-situ, during irradiation. The calculated radiation damage conditions within the F{sup 3} match, in many respects, that of a fusion reactor first wall, making it well suited for testing fusion materials. Here we report in particular on two important characteristics of the radiation environment with relevancy to radiation damage: the primary knock-on atom spectrum and the impact of the pulse structure of the proton beam on temporal characteristics of the atomic displacement rate. With respect to both of these, analyses show the F{sup 3} has conditions that are consistent with those of a steady-state fusion reactor first wall.

  14. "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.

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

    PubMed

    Williams, C

    2001-01-01

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

  16. 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.

  17. Ethnographic traits in the writing of Mary Breckinridge.

    PubMed

    Ruffing-Rahal, M A

    1991-05-01

    Mary Breckinridge, founder of The Frontier Nursing Service, employed ethnographic methodologies--participant observation, interviewing and fieldwork--as foundation efforts toward construction of highly responsive health-service systems, developed under circumstances of duress, e.g. after World War I and pre-industrial Appalachia. In culturally representing the Appalachian, she drew upon two vast resources, her first-hand field experience as well as her considerable rhetorical skill. She narrated and described an enormity of selected 'realities' of Appalachian life with immediacy of detail and nonpatronizing sensitivity for 'insider' perspectives. In an era of transition with few indigenous cultural writers, Breckinridge capitalized on her family heritage in Appalachia, which further underscored the intimacy and authenticity of her accounts. As portrayed in her autobiography, crosscultural encounters of one kind and time or another supplied an infrastructure of longstanding meaning throughout her life. The final and lasting impression is that, in both skills and orientation, Breckinridge's were essentially those of the ethnographer.

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

    PubMed

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

    2015-04-01

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

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

    PubMed

    Arthur-Farraj, P J; Murphy, S M; Laura, M; Lunn, M P; Manji, H; Blake, J; Ramdharry, G; Fox, Z; Reilly, M M

    2012-07-01

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

  20. STS-84 Pilot Eileen Marie Collins suits up

    NASA Technical Reports Server (NTRS)

    1997-01-01

    With the assistance of a suit technician, STS-84 Pilot Eileen Marie Collins finishes donning her launch and entry suit in the Operations and Checkout Building in preparation for her second Space Shuttle flight. She was the first woman Shuttle pilot on STS-63 in 1995, which was the first approach and flyaround of the Russian Space Station Mir by the Space Shuttle. Collins and six other crew members will depart shortly for Launch Pad 39A, where the Space Shuttle Atlantis awaits liftoff during an approximate 7-minute launch window which opens at about 4:08 a.m. This will be the sixth docking of the Space Shuttle with the Mir. The exact liftoff time will be determined about 90 minutes prior to launch, based on the most current location of Mir.

  1. Heavy ion observations by MARIE in cruise phase and Marsorbit

    SciTech Connect

    Lee, Kerry T.; Cleghorn, Timothy F.; Cucinotta, Francis A.; Pinsky, Lawrence S.; Zeitlin, Cary

    2004-12-01

    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.

  2. 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.

  3. 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... along longitude 076 38'30'' W, located at Leonardtown, MD. The regulations were needed to...

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

    ERIC Educational Resources Information Center

    Lenox, James; Hamilton, Ronald

    1973-01-01

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

  5. [Ultrasound diagnosis of Charcot-Marie-Tooth disease].

    PubMed

    Noto, Yu-ichi

    2014-03-01

    Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of diseases with over 45 different causative gene mutations identified. Nerve conduction studies are important for the classification and diagnosis of CMT, whereas ultrasound (US) is increasingly used to assess the peripheral nerves of patients with CMT, as a complement to neurophysiological studies. Recent ultrasound assessment reports of peripheral nerves in CMT are summarized here. An ultrasound finding of CMT1A, which is the most common demyelinating subtype of CMT, is characterized by uniform enlargement of peripheral nerves and nerve roots. Patients with CMT1B (MPZ mutation) also have larger nerves than normal subjects do. Peripheral nerves of patients with CMT2, which is an axonal type of CMT, are slightly larger than those of normal subjects. Focal enlargement of nerves at entrapment sites is a characteristic US finding of hereditary neuropathy with liability to pressure palsy. US findings of CMT are thus subtype-specific. Therefore, the assessment of nerve US may become a useful supporting tool for the diagnosis of CMT subtypes.

  6. 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.

  7. 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.

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

    PubMed

    Echaniz-Laguna, A

    2015-01-01

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

  9. Charcot-Marie-Tooth disease and intracellular traffic.

    PubMed

    Bucci, Cecilia; Bakke, Oddmund; Progida, Cinzia

    2012-12-01

    Mutations of genes whose primary function is the regulation of membrane traffic are increasingly being identified as the underlying causes of various important human disorders. Intriguingly, mutations in ubiquitously expressed membrane traffic genes often lead to cell type- or organ-specific disorders. This is particularly true for neuronal diseases, identifying the nervous system as the most sensitive tissue to alterations of membrane traffic. Charcot-Marie-Tooth (CMT) disease is one of the most common inherited peripheral neuropathies. It is also known as hereditary motor and sensory neuropathy (HMSN), which comprises a group of disorders specifically affecting peripheral nerves. This peripheral neuropathy, highly heterogeneous both clinically and genetically, is characterized by a slowly progressive degeneration of the muscle of the foot, lower leg, hand and forearm, accompanied by sensory loss in the toes, fingers and limbs. More than 30 genes have been identified as targets of mutations that cause CMT neuropathy. A number of these genes encode proteins directly or indirectly involved in the regulation of intracellular traffic. Indeed, the list of genes linked to CMT disease includes genes important for vesicle formation, phosphoinositide metabolism, lysosomal degradation, mitochondrial fission and fusion, and also genes encoding endosomal and cytoskeletal proteins. This review focuses on the link between intracellular transport and CMT disease, highlighting the molecular mechanisms that underlie the different forms of this peripheral neuropathy and discussing the pathophysiological impact of membrane transport genetic defects as well as possible future ways to counteract these defects.

  10. 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

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

    PubMed

    Harper, Peter S

    2011-08-01

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

  12. "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.

  13. 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

  14. Charcot Marie Tooth (CMT) Subtypes and Genetic Testing Strategies

    PubMed Central

    Saporta, Anita S.D.; Sottile, Stephanie L.; Miller, Lindsey J.; Feely, Shawna M.E.; Siskind, Carly E; Shy, Michael E.

    2010-01-01

    Background Charcot Marie Tooth disease (CMT) affects one in 2500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, natural history studies and for entry into clinical trials. However genetic testing can be both expensive and confusing to patients and physicians. Methods We analyzed data from 1024 of our patients to determine the percentage and features of each CMT subtype within this clinic population. We identified distinguishing clinical and physiological features of the subtypes that could be used to direct genetic testing for patients with CMT. Findings Of 1024 patients evaluated, 787 received CMT diagnoses. Five hundred twenty-seven patients with CMT (67%) received a genetic subtype, while 260 did not have a mutation identified. The most common CMT subtypes were CMT1A, CMT1X, HNPP, CMT1B, and CMT2A. All other subtypes accounted for less than 1% each. Eleven patients had more than one genetically identified subtype of CMT. Patients with genetically identified CMT were separable into specific groups based on age of onset and the degree of slowing of motor nerve conduction velocities. Interpretation Combining features of the phenotypic and physiology groups allowed us to identify patients who were highly likely to have specific subtypes of CMT. Based on these results, we propose a strategy of focused genetic testing for CMT illustrated in a series of flow diagrams created as testing guides. PMID:21280073

  15. Mutation testing in Charcot-Marie-Tooth neuropathy.

    PubMed

    Nicholson, G A

    1999-09-14

    In order to determine the optimal approach for mutation testing in the form of Charcot-Marie-Tooth (CMT) neuropathy, consecutive patients with a CMT phenotype, available family history information on at least first-degree relatives, and median motor conduction velocities of less than 50 m/sec were tested for the CMT1A duplication and for connexin32, peripheral myelin protein 22 (PMP22) and myelin protein zero (P0) point mutations. A cutoff value for median motor conduction velocity of less than 50 m/sec was adopted to include all CMTX families. All of the connexin32 mutations, except for one sporadic case, were found by first selecting families with no male-to-male inheritance of CMT and neurophysiological indicators of CMTX. All PMP22 and P0 mutations were found by selecting Dejerine-Sottas cases or dominantly inherited CMT1 with a very severe phenotype. It is concluded that "blind" testing of CMT1 families for connexin32, P0, and PMP22 mutations is of limited value. PMID:10586262

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

    PubMed

    Carvalho Maranho, Daniel Augusto; Volpon, José Batista

    2009-01-01

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

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

    PubMed

    Gasinska, Anna

    2016-01-01

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

  18. 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…

  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. 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.

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

    PubMed

    Higginson, Irene J; Wilkinson, Susie

    2002-05-01

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

  2. 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.

  3. Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease

    PubMed Central

    Lee, Hyoung-Song; Kim, Min Jee; Ko, Duck Sung; Jeon, Eun Jin; Kim, Jin Young

    2013-01-01

    Objective Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F. Methods Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of multiplex fluorescent polymerase chain reaction (PCR) followed by fragment analysis or sequencing using single lymphocytes. We performed six cycles of PGD for CMT1A and one cycle for CMT2F. Results Two duplex and two triplex protocols were developed according to the available markers for each CMT1A couple. Depending on the PCR protocols, the amplification rates and ADO rates ranged from 90.0% to 98.3% and 0.0% to 11.1%, respectively. For CMT2F, the amplification rates and ADO rates were 93.3% and 4.8%, respectively. In case of CMT1A, 60 out of 63 embryos (95.2%) were diagnosed and 13 out of 21 unaffected embryos were transferred in five cycles. Two pregnancies were achieved and three babies were delivered without any complications. In the case of CMT2F, a total of eight embryos were analyzed and diagnosed. Seven embryos were diagnosed as unaffected and four embryos were transferred, resulting in a twin pregnancy. Two healthy babies were delivered. Conclusion This is the first report of successful pregnancy and delivery after specific PGD for CMT disease in Korea. Our PGD procedure could provide healthy babies to couples with a high risk of transmitting genetic diseases. PMID:24505562

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

    USGS Publications Warehouse

    Bayley, Richard W.

    1959-01-01

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

  5. 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.

  6. 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

  7. STS-84 Pilot Eileen Marie Collins in white room

    NASA Technical Reports Server (NTRS)

    1997-01-01

    KENNEDY SPACE CENTER, FLA. -- STS-84 Pilot Eileen M. Collins prepares to enter the Space Shuttle Atlantis at Launch Pad 39A with help from white room closeout crew members. The fourth Shuttle mission of 1997 will be the sixth docking of the Space Shuttle with the Russian Space Station Mir. The commander is Charles J. Precourt. The pilot is Eileen Marie Collins. The five mission specialists are C. Michael Foale, Carlos I. Noriega, Edward Tsang Lu, Jean-Francois Clervoy of the European Space Agency and Elena V. Kondakova of the Russian Space Agency. The planned nine-day mission will include the exchange of Foale for U.S. astronaut and Mir 23 crew member Jerry M. Linenger, who has been on Mir since Jan. 15. Linenger transferred to Mir during the last docking mission, STS-81; he will return to Earth on Atlantis. Foale is slated to remain on Mir for about four months until he is replaced in September by STS-86 Mission Specialist Wendy B. Lawrence. During the five days Atlantis is scheduled to be docked with the Mir, the STS-84 crew and the Mir 23 crew, including two Russian cosmonauts, Commander Vasily Tsibliev and Flight Engineer Alexander Lazutkin, will participate in joint experiments. The STS-84 mission also will involve the transfer of more than 7,300 pounds of water, logistics and science equipment to and from the Mir. Atlantis is carrying a nearly 300-pound oxygen generator to replace one of two Mir units which have experienced malfunctions. The oxygen it generates is used for breathing by the Mir crew.

  8. Idiomarina maris sp. nov., a marine bacterium isolated from sediment.

    PubMed

    Zhang, Yan-Jiao; Zhang, Xi-Ying; Zhao, Hui-Lin; Zhou, Ming-Yang; Li, Hui-Juan; Gao, Zhao-Ming; Chen, Xiu-Lan; Dang, Hong-Yue; Zhang, Yu-Zhong

    2012-02-01

    A protease-producing marine bacterium, designated CF12-14(T), was isolated from sediment of the South China Sea. Phylogenetic analysis of the 16S rRNA gene sequence revealed that strain CF12-14(T) formed a separate lineage within the genus Idiomarina (Gammaproteobacteria). The isolate showed the highest 16S rRNA gene sequence similarity with Idiomarina salinarum ISL-52(T) (94.7 %), Idiomarina seosinensis CL-SP19(T) (94.6 %) and other members of the genus Idiomarina (91.9-94.6 %). Cells were gram-negative, aerobic, flagellated, straight or slightly curved, and often formed buds and prosthecae. Strain CF12-14(T) grew at 4-42 °C (optimum 30-35 °C) and with 0.1-15 % (w/v) NaCl (optimum 2-3 %). The isolate reduced nitrate to nitrite and hydrolysed DNA, but did not produce acids from sugars. The predominant cellular fatty acids were iso-C(15 : 0) (27.4 %), iso-C(17 : 0) (16.0 %) and iso-C(17 : 1)ω9c (15.8 %). The major polar lipids were phosphatidylethanolamine, diphosphatidylglycerol and phosphatidylglycerol. The major respiratory quinone was ubiquinone 8. The DNA G+C content was 50.4 mol%. The phylogenetic, phenotypic and chemotaxonomic data supported the conclusion that CF12-14(T) represents a novel species of the genus Idiomarina, for which the name Idiomarina maris sp. nov. is proposed. The type strain is CF12-14(T) ( = CCTCC AB 208166(T) = KACC 13974(T)).

  9. 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.

  10. Sister Mary Joseph Nodules on 99mTc HYNIC-TOC scintigraphy in patients with neuroendocrine tumors.

    PubMed

    Jing, Hongli; Zhang, Yingqiang; Li, Fang

    2015-02-01

    A Sister Mary Joseph nodule represents an umbilical metastasis, which is more commonly caused by a primary malignancy in gastrointestinal tract or from reproductive system. We report Sister Mary Joseph nodules caused by neuroendocrine tumor and revealed on Tc HYNIC-TOC scintigraphy.

  11. 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...

  12. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

    PubMed

    Gonzalez, Michael A; Feely, Shawna M; Speziani, Fiorella; Strickland, Alleene V; Danzi, Matt; Bacon, Chelsea; Lee, Youjin; Chou, Tsui-Fen; Blanton, Susan H; Weihl, Conrad C; Zuchner, Stephan; Shy, Michael E

    2014-11-01

    Mutations in VCP have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral sclerosis. We identified a novel VCP mutation (p.Glu185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family. Functional studies showed that the Glu185Lys variant impaired autophagic function leading to the accumulation of immature autophagosomes. VCP mutations should thus be considered for genetically undefined Charcot-Marie-Tooth disease type 2.

  13. 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…

  14. Celebrating 50 Years of Service: A Conversation with Mary Thomas Burke.

    ERIC Educational Resources Information Center

    Nassar-McMillan, Sylvia C.

    2001-01-01

    Mary Thomas Burke, known affectionately to many in Charlotte, North Carolina, as "Sister," has devoted over 50 of the past years of her life to service. In this interview, she explores the paths that her service endeavors have followed, the influences and turning points in her life, and shares her insights on achieving balance in service and in…

  15. 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)

  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. 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…

  18. 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…

  19. [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.

  20. 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…

  1. 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...

  2. 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…

  3. 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…

  4. 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…

  5. 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,…

  6. 77 FR 49719 - Amendment of Class D Airspace; Sault Ste Marie, ON

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-17

    ..., creating additional controlled airspace at Sault Ste Marie Airport (77 FR 29916) Docket No. FAA-2012-0392... a ``significant rule'' under DOT Regulatory Policies and Procedures (44 FR 11034; February 26, 1979...), 40103, 40113, 40120; E.O. 10854, 24 FR 9565, 3 CFR, 1959-1963 Comp., p. 389. Sec. 71.1 0 2....

  7. 78 FR 14653 - Amendment of Class E Airspace; Sault Ste Marie, ON

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-07

    ..., amending controlled airspace at Sault Ste Marie Airport (77 FR 56796) Docket No. FAA-2012-0791. Interested... ``significant rule'' under DOT Regulatory Policies and Procedures (44 FR 11034; February 26, 1979); and (3) does..., 40113, 40120; E. O. 10854, 24 FR 9565, 3 CFR, 1959-1963 Comp., p. 389. Sec. 71.1 0 2. The...

  8. 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,…

  9. 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…

  10. 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…

  11. 106. Catalog OPark Structure/Construction & Maintenance, 23 Marys Rock Tunnel, ...

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

    106. Catalog O-Park Structure/Construction & Maintenance, 23 Marys Rock Tunnel, Negative No. 638 17 E. Ray Schaffner, Photographer, December 5, 1957 ICICLES IN TUNNEL. - Skyline Drive, From Front Royal, VA to Rockfish Gap, VA , Luray, Page County, VA

  12. Mary Wollstonecraft, Margaret Fuller, and Angelina Grimke: Symbolic Convergence and a Nascent Rhetorical Vision.

    ERIC Educational Resources Information Center

    Huxman, Susan Schultz

    1996-01-01

    Invites rhetorical critics to reappraise the way they study discreet social movements and pay isolated tribute to woman's rights figures. Examines how Mary Wollstonecraft, Margaret Fuller, and Angelina Grimke each co-opted the ideational and stylistic rhetorical characteristics of pre-existing social movements (the enlightenment,…

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

    ERIC Educational Resources Information Center

    Heredia, Juanita

    2016-01-01

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

  14. 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…

  15. 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

  16. 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)

  17. 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)

  18. 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…

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

    ERIC Educational Resources Information Center

    Chisholm, James A., Jr.

    2013-01-01

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

  20. [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

  1. 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…

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

    ERIC Educational Resources Information Center

    Baratta, Frank

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

  3. 75 FR 22436 - Michael Williams-Control Exemption-St. Maries River Railroad, Inc.

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-28

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

  4. 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…

  5. 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…

  6. Sister Mary Joseph's nodule as the first presenting sign of primary fallopian tube adenocarcinoma.

    PubMed

    Kirshtein, Boris; Meirovitz, Mihai; Okon, Elimelech; Piura, Benjamin

    2006-01-01

    Umbilical metastasis (Sister Mary Joseph's nodule) is often the first sign of intraabdominal and/or pelvic carcinoma. We describe the fourth case reported in the literature of Sister Mary Joseph's nodule originating from fallopian tube carcinoma. In a 54-year-old woman, Sister Mary Joseph's nodule was unexpectedly detected during umbilical hernia repair. Subsequent laparoscopy revealed a 2-cm friable tumor located at the fimbriated end of right fallopian tube and 1-cm peritoneal implant in the pouch of Douglas. Laparoscopic bilateral adnexectomy and resection of the peritoneal implant were performed. Because frozen section examination revealed fallopian tube carcinoma, the procedure was continued with laparotomy including total abdominal hysterectomy, omentectomy, and pelvic lymph node sampling. Final diagnosis was stage IIIB fallopian tube carcinoma. The patient received postoperative adjuvant chemotherapy with single-agent carboplatin and has remained alive and with no evidence of disease. It is concluded that in cases of Sister Mary Joseph's nodule, laparoscopy can be a useful tool in the search of the primary tumor in the abdomen and/or pelvis. Laparoscopy can provide crucial information with respect to the location, size, and feasibility of optimal surgical resection of the intraabdominal and/or pelvic tumors.

  7. 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…

  8. 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…

  9. 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.

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

    ERIC Educational Resources Information Center

    Valverde, Cristina Perez

    2009-01-01

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

  11. 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)

  12. 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…

  13. 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…

  14. Afrocentric Education in Supplementary Schools: Paradigm and Practice at the Mary McLeod Bethune Institute.

    ERIC Educational Resources Information Center

    Kifano, Sabira

    1996-01-01

    Examines the history, philosophy, methods, and operations of the Mary McLeod Bethune Institute, an Afrocentric supplementary Saturday elementary school in Los Angeles (California). Qualitative data show the role this enrichment plays in developing socially active and capable African American youth through the study of African American culture and…

  15. Mary McLeod Bethune and the Education of Black Girls.

    ERIC Educational Resources Information Center

    McCluskey, Audrey Thomas

    1989-01-01

    Chronicles the life of Mary McLeod Bethune and her commitment to the education of Black girls in the early twentieth century despite the overwhelming prejudices of the time. Discusses the American tradition in which both Black and White women used education as a means of advancing their cause and status. (JS)

  16. 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.…

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

    ERIC Educational Resources Information Center

    Caldwell, Heather Kleinpeter

    2009-01-01

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

  18. 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…

  19. 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…

  20. 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)

  1. 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)

  2. 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…

  3. 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.

  4. 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…

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

    NASA Astrophysics Data System (ADS)

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

    2001-12-01

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

  6. 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

  7. 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.

  8. 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

  9. 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

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

    PubMed

    Jehaes, E; Decorte, R; Peneau, A; Petrie, J H; Boiry, P A; Gilissen, A; Moisan, J P; Van den Berghe, H; Pascal, O; Cassiman, J J

    1998-01-01

    Carl Wilhelm Naundorff was buried in 1845 in Delft as Louis Charles, Duc de Normandie, 'Louis XVII'. However, the son of Louis XVI and Marie-Antoinette-Louis XVII--officially died in the Temple of Paris in 1795. In order to resolve the identity of Naundorff, mitochondrial DNA (mtDNA) D-loop sequences of his remains were compared with the sequences obtained from the hairs of two sisters of Marie-Antoinette, Marie-Antoinette herself, and with the sequences obtained from DNA samples of two living maternal relatives. The mtDNA sequence of a bone sample from Naundorff showed two nucleotide differences from the sequences of the three sisters and four differences from the sequences of living maternal relatives. Based on this evidence it becomes very unlikely that Naundroff is the son of Marie-Antoinette. PMID:9781047

  11. 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...

  12. [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.

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

    PubMed

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

    2014-07-01

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

  14. 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

  15. 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

  16. 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! )

  17. 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.

  18. 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.

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

    PubMed

    Davis, J L

    1995-07-01

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

  20. 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.

  1. Striving toward continuous quality improvement: a case study of Saint Mary's Hospital.

    PubMed

    Motwani, J; Klein, D; Navitskas, S

    1999-12-01

    This case analysis is the result of a year-long study designed to identify and assess the ingredients that led to the successful implementation of a continuous quality improvement (CQI) program at Saint Mary's Hospital in Grand Rapids, Michigan. The key ingredients of success included: (1) an organizational structure and leadership commitment for identifying and improving processes, (2) use of data-based statistical and analytical tools to study processes, (3) empowerment of teams of employees to take charge of the operations of their own work tasks in a manner that encourages continuous learning, (4) involvement of internal and external customers through the improvement process, and (5) development of effective measures for monitoring improvement. The benefits of the CQI efforts at Saint Mary's have been remarkable and hospital-wide.

  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.

  3. St. Mary's Hospital, rescued climber meet reporters as HIPAA rules begin.

    PubMed

    Botvin, Judith D

    2003-01-01

    St. Mary's Hospital, Grand Junction, Colo., is a regional hospital whose PR team is accustomed to media exposure. Just as tehy were instituting the patient privacy rules of HIPAA, a true-life reality drama landed on their doorstep. Aron Ralston, a 27-year old experienced mountain climber, became the hospital's highest profile patient and attracted worldwide media coverage after courageously rescuing himself from a near-disaster.

  4. 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

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

    ScienceCinema

    Mary Ann Piette

    2016-07-12

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

  6. GPS Measurement of Tectonic Deformation and Isostatic Rebound in Marie Byrd Land, Antarctica

    NASA Astrophysics Data System (ADS)

    Donnellan, A.; Luyendyk, B. P.

    2001-12-01

    The Ross embayment and western Marie Byrd Land are part of the West Antarctic rift system. The region is undergoing active deformation, but the rates and causes of deformation are essentially unknown. In December 1998 we installed three continuous and autonomous global positioning system (GPS) stations on outcrops in western Marie Byrd Land, with baselines between stations of about 100 kilometers. We recovered data for the sites in Marie Byrd Land during the 1998--1999 season and additional data in November 1999, November 2000, and January 2001. Results from three years of data collection indicate essentially no extension between McMurdo station (MBL4) and the network. The results show an overall length rate of -0.7+/- 3.5~mm/yr between MCM4 and the wMBL network. With additional years of measurements we should be able to discriminate whether this rate is near zero or not to about 1~mm/yr. We also expect to detect strain gradients within wMBL. The network also suggests a dome of uplift centered near the Rockefeller Mountains, with the maximum rate being in the Rockefeller Mountains of 12+/- 8~mm/yr. This is consistent with proposed post-glacial rebound for the region. The strain data from wMBL and the Transantarctic Mountains will enable us to construct models for tectonic extension and glacial rebound in the West Antarctic rift. The results will help determine whether active tectonic deformation is occurring in the Ross embayment. Crustal uplift could be occurring in western Marie Byrd Land due to isostatic rebound following the last glacial age. Tectonic extension, occurring in the embayment, could greatly influence global plate circuit calculations and constrain our understanding of the history of extension in the embayment and the consequent uplift history of the Transantarctic Mountains.

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

    PubMed

    Severino, Sally K; Morrison, Nancy K

    2013-01-01

    Mary Wollstonecraft Shelley's modern Prometheus shows us the eternal punishment of unrepaired shame--eternal entrapment within the shame triangle of victim, perpetrator and rescuer. This paper describes how Shelley's insight--that lack of love creates a monster living in shame--is being confirmed by neuroscience and how this is exemplified in two characters--the creature and Victor Frankenstein. Additionally, it delineates how pastoral counselors can help those suffering from unrepaired shame PMID:24720244

  8. Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.

    PubMed

    Meggouh, F; Bienfait, H M E; Weterman, M A J; de Visser, M; Baas, F

    2006-10-24

    We report a 32-year-old patient with Charcot-Marie-Tooth (CMT2B) including foot ulcerations. Genetic analysis identified a de novo mutation in the small GTP-ase late endosomal RAB7 gene, consisting of a c.471G>C, p.Lys157Asn missense mutation. This observation strongly supports the hypothesis that RAB7 mutations are responsible for CMT2B. PMID:17060578

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

    PubMed

    Severino, Sally K; Morrison, Nancy K

    2013-01-01

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

  10. 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/

  11. 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

  12. 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

  13. 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.

  14. 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.

  15. [A female anatomist of the enlightenment: Marie Marguerite Biheron (1719-1795)].

    PubMed

    Boulinier, G

    2001-01-01

    Since a notice published in 1811 in the Biographie universelle of Michaud, it has been supposed that the famous "Mademoiselle Biheron" of the XVIIIth century, who made artificial anatomies and was especially admired by Diderot, had Marie Catherine as her Christian names. It was a mistake which would invalidate for almost two centuries all the researches on the biography of this anatomist and artist. No one even knew the date and the circumstances of her death. The author, having discovered her true names - Marie Marguerite -, realised many investigations on her and her family. He worked especially on notarian archives, both in Paris, where she was born, and in the north of the old Maine province (present Sarthe department), from which her father, who was a Parisian apothecary, originated. Also he recalls the essential part that this Marie Marguerite Biheron (1719-1795) played in the evolution of the ideas concerning the teaching and medical use of anatomical data. Her contribution in that field was one of those which prepared the important reforms which would take place at the end of the century, at the time of the Convention, conducting in particular to the development of modern surgery.

  16. 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

  17. 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.

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

    PubMed

    Guyton, Gregory P

    2006-10-01

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

  19. 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

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

    PubMed Central

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

    2009-01-01

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

  1. 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.

  2. 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

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

    PubMed

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

    2014-03-01

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

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

    SciTech Connect

    1996-05-01

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

  5. 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.

  6. 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.

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

    PubMed

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

    2015-11-01

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

  8. 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.

  9. 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.

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

    PubMed

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

    2014-09-01

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

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

    PubMed Central

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

    2015-01-01

    Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2) is a validated clinical outcome measure developed for use in clinical trials to monitor disease impairment and progression in affected CMT patients. Currently, all items of CMTNSv2 have identical contribution to the total score. We used Rasch analysis to further explore psychometric properties of CMTNSv2, and in particular, category response functioning and their weight on the overall disease progression. Weighted category responses represent a more accurate estimate of actual values measuring disease severity and therefore could potentially be used in improving the current version. PMID:25400013

  12. 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.

  13. Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

    PubMed

    Abe, Akiko; Nakamura, Kazuyuki; Kato, Mitsuhiro; Numakura, Chikahiko; Honma, Tomomi; Seiwa, Chizuru; Shirahata, Emi; Itoh, Aiko; Kishikawa, Yumiko; Hayasaka, Kiyoshi

    2010-11-01

    We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2 kb deletion spanning from intron 4 to 3'-region of PMP22, which was likely generated by nonhomologous end joining. Severely affected patients carrying a PMP22 deletion must be analyzed for the mutations of the other copy of PMP22. PMID:20739940

  14. Saddle-point approximation for M-ary phase-shift keying with adjacent satellite interference

    NASA Astrophysics Data System (ADS)

    Yue, O.

    1980-09-01

    As the geosynchronous orbit for satellite communication becomes increasingly crowded, the effect of adjacent satellite interference is of primary concern. The saddle-point approximation technique for evaluating the error probability of M-ary PSK systems with adjacent satellite interference is described. In comparison with previous methods, this technique has the advantages of both computational simplicity and accuracy. Results include a sample calculation to study the effect of fading on the uplink of a 12/14-GHz quadraphase-shift-keying system with 3-degree satellite spacings and 3-m earth stations.

  15. 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

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

    PubMed

    Osterud, Grey

    2009-01-01

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

  17. 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

  18. 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).

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

    NASA Astrophysics Data System (ADS)

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

    2016-10-01

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

  20. 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

  1. 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.

  2. 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

  3. In search of the Boston Strangler: genetic evidence from the exhumation of Mary Sullivan.

    PubMed

    Foran, David R; Starrs, James E

    2004-01-01

    The Boston Strangler was one of the United States' most notorious serial killers, raping and strangling with decorative ligatures thirteen woman in Boston during the early 1960s. Albert DeSalvo, never a suspect in the slayings, confessed in prison (where he was later murdered) to being the Boston Strangler, and the investigation largely ended. Mary Sullivan was the last victim of the Boston Strangler, found sexually assaulted and strangled in her Boston apartment in 1964. Recently, a team of forensic scientists undertook the exhumation and subsequent scientific analysis of Mary Sullivan's remains, in hope of finding consistencies or inconsistencies between DeSalvo's confessed description of the murder and any evidence left behind. Included in these analyses was extensive DNA testing of all UV fluorescent material associated with the body. The large majority of results were negative, however, fluorescent material located on the underwear and entwined in her pubic hair generated two human mitochondrial DNA sequences. Neither of these matched the victim nor members of the forensic team who worked on the evidence. Most importantly, neither DNA sequence could have originated from Albert DeSalvo.

  4. Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease

    PubMed Central

    Burns, Joshua; Ouvrier, Robert; Estilow, Tim; Shy, Rosemary; Laurá, Matilde; Eichinger, Kate; Muntoni, Francesco; Reilly, Mary M.; Pareyson, Davide; Acsadi, Gyula; Shy, Michael E.; Finkel, Richard S.

    2012-01-01

    Background Charcot-Marie-Tooth disease is the most common inherited nerve disorder and typically presents with pes cavus foot deformity and ankle equinus during childhood. Level in the variation of symmetry of musculoskeletal lower limb involvement across the clinical population is unknown, despite early reports describing gross asymmetry. Methods We measured foot alignment and ankle flexibility of the left and right limbs using accurate and reliable standardised paediatric outcome measures in 172 patients aged 3–20 years with a variety of disease subtypes recruited from the United States, United Kingdom, Italy and Australia. Findings While a large range of differences existed between left and right feet for a small proportion of children, there was no overall significant difference between limbs. Interpretation There are two important implications of these findings. Children with Charcot-Marie-Tooth disease generally exhibit symmetrical foot alignment and ankle flexibility between limbs. As such, analysing one limb only for biomechanical-related research is appropriate and satisfies the independence requirements for statistical analysis. However, because there are large differences between feet for a small proportion of children, an individualised limb-focused approach to clinical care is required. PMID:22424781

  5. 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

  6. 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.

  7. Magnetic survey in Mari (Syria):towards a detailed map of the city

    NASA Astrophysics Data System (ADS)

    Galdeano, A.; Gallet, Y.; Hulot, G.; Margueron, J. C.; Le Goff, M.

    2003-04-01

    On spring 2001 and fall 2002, we carried out two magnetic surveys over a large unexcavated part of Mari (Tell Hariri, Syria), an important Mesopotamian city which has revealed three main occupation phases during the third and the second millennia BC and was destroyed by the King of Babylon Hammurabi. Both surveys were performed using a Geometrics magnetic gradiometer of caesium vapour allowing a high measurement sensivity. This sensivity was clearly necessary to retrieve magnetic anomalies linked to buried structures (houses, streets, etc…) made of adobe bricks. The first survey was in fact a limited test (over approximately two hectares) in order to see if the employed technique was indeed effective to recover some details of the city organisation. This test was successful as we observed several houses and, more important, a large band which we associated to a main street going from the Palace, at the top of the tell, to a gate in the city wall. The second survey was thus more extended (over approximately 11 hectares) and gave new informations on the network of streets and buildings in Mari. We will present all the results, which clearly illustrate the potential of the magnetic method in the adobe brick context.

  8. Fussell's folly: academic standards and the case of Mary Putnam Jacobi.

    PubMed

    Gartner, C B

    1996-05-01

    In 1864, Dean Edwin Fussell of the Female Medical College of Pennsylvania tried to prevent Mary Putnam (later the eminent physician Mary Putnam Jacobi) from graduating. He claimed she had not fulfilled the requirements, and that granting her degree would give critics ammunition for their charges that a medical school for women debased the standards of the profession. In his writings and speeches both before and after this incident, Fussell made clear his belief that women in medicine should be held to higher and stricter standards than those applied to men in order to win acceptance. Fussell's case against Putnam, documented in the Minute Books of the Faculty and Board of Corporators of the college, was resolved, but this conflict raises larger issues. According to evidence in these records and the words of Fussell and those who knew him, Fussell emerges as a weak individual in a position of power in a weak institution who understood only quantitative measures of competence. This leads to the proposition that weak leaders in weak institutions today may continue to impose disparate standards on women and thereby adversely affect their careers.

  9. 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

  10. 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

  11. 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

  12. M-ary suprathreshold stochastic resonance: Generalization and scaling beyond binary threshold nonlinearities

    NASA Astrophysics Data System (ADS)

    McDonnell, Mark D.; Gao, Xiao

    2014-12-01

    Suprathreshold stochastic resonance is a form of noise-enhanced processing that is observed only when more than one noisy nonlinear signal processing element is combined in a parallel array, such as in biological and engineered sensory transduction. The case of binary threshold nonlinearities combined into arrays of independently noisy components has previously been studied extensively, and quantified in terms of how information transmission through the array varies with the input noise level, and the number of elements, N. Here we generalise this setup to arrays of N identical M-ary threshold nonlinearities. We show that enhanced suprathreshold stochastic resonance occurs for M≥ 1 and N > 1, implying that M identical quantizing sensors can be combined to provide higher resolution than a single sensor, provided they are independently noisy. We also study the system's scaling with M and N and conclude that although binary quantizing nonlinearities are superior to M-ary nonlinearities in the presence of large noise, the opposite holds in the presence of small noise. This suggests that multiple identical but coarse-resolution sensors can be useful for acquiring low SNR signals while few high-resolution identical sensors are superior for high SNR signals.

  13. La creation du CEGEP Marie-Victorin. Avis a la ministre de l'enseignement superieur et de la Science (The Creation of CEGEP Marie-Victorin. Advisory to the Minister of Higher Education and Science).

    ERIC Educational Resources Information Center

    Conseil des Colleges, Quebec (Quebec).

    A rationale is provided by the Council of Colleges for transforming Marie-Victorin College from a private institution into a public college of general and professional education (CEGEP). The council's analysis covers four areas: (1) access to postsecondary education, examined in light of demographic trends, geographic accessibility, adult…

  14. "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)

  15. 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.

  16. 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…

  17. 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

    ... 46 Shipping 8 2010-10-01 2010-10-01 false Basic rates and charges on Lakes Huron, Michigan and Superior and the St. Mary's River. 401.410 Section 401.410 Shipping COAST GUARD (GREAT LAKES PILOTAGE), DEPARTMENT OF HOMELAND SECURITY GREAT LAKES PILOTAGE REGULATIONS Rates, Charges, and Conditions for...

  18. On teaching infants "the right use of their hands": Advice and reassurance from Mary Palmer Tyler's The Maternal Physician (1811).

    PubMed

    Harris, Lauren Julius

    2010-01-01

    For parents anxious "lest their children should be left-handed", the American author Mary Palmer Tyler offered advice and reassurance in her 1811 child-care manual The Maternal Physician. This article provides a brief biography of Tyler and the text of her remarks, along with notes on the text and the author's sources.

  19. 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…

  20. Funding Guidelines--Peer Performance Analysis: University System of Maryland, Morgan State University, St. Mary's College of Maryland

    ERIC Educational Resources Information Center

    Maryland Higher Education Commission, 2004

    2004-01-01

    This report contains a comprehensive assessment of the performance of each University System of Maryland institution, Morgan State University, and St. Mary's College of Maryland in comparison to their performance peers. The report includes a discussion of the performance measures, criteria used to assess institutional performance, and issues…

  1. Young Mary Wollstonecraft's Schooling and Its Influence on Her Future Pioneering Agenda for the Rational Education of Women.

    ERIC Educational Resources Information Center

    Roberts, Leonard H.

    This paper presents biographical information about Mary Wollstonecraft (1759-1797), focusing especially on her education. The paper begins with an overview of the status of women's education, or lack of it, in 18th century England. It then describes Wollstonecraft's reaction to Jean Jacques Rousseau's views on women's education and the influence…

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

    ERIC Educational Resources Information Center

    Woodson, Jon

    1992-01-01

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

  3. 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…

  4. 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…

  5. 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…

  6. Breaking the Cycle of Failure: Marie Carbo's Practical Strategies for Reading Success. (Discussion Guide; Three Video Programs.)

    ERIC Educational Resources Information Center

    Carbo, Marie; Eakin, Sybil, Ed.

    This discussion guide features plans for three workshops, each accompanying one of the 20-minute video programs in the series "Breaking the Cycle of Failure: Marie Carbo's Practical Strategies for Reading Success." The three programs present an overview of the need for teaching based on children's reading styles, the effect of using the method,…

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

    PubMed

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

    2015-11-01

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

  8. 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

  9. 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

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

    PubMed

    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.

  11. Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B.

    PubMed

    Cartwright, Michael S; Brown, Martin E; Eulitt, Patrick; Walker, Francis O; Lawson, Victoria H; Caress, James B

    2009-07-01

    Ultrasound is emerging as a useful tool for evaluation of neuromuscular conditions, because it can provide high-resolution anatomic information to complement electrodiagnostic data. There have been few studies in which ultrasound was used to assess the peripheral nerves of individuals with Charcot-Marie-Tooth (CMT) disease and none involving CMT type 1B. In this study we compared nerve cross-sectional area in individuals from a single large family with CMT 1B with normal, healthy controls. We also assessed for cranial nerve enlargement in those with CMT 1B with cranial neuropathies compared to those with CMT 1B without cranial neuropathies. Individuals with CMT 1B have significantly larger median and vagus nerves than healthy controls, but no difference was seen in cranial nerve size between those with versus those without cranial neuropathies. This is the first study to characterize the ultrasonographic findings in the peripheral nerves of individuals with CMT 1B.

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

    PubMed

    Ciappara, Frans

    2011-01-01

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

  13. [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.

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

    PubMed

    Harel, T; Lupski, J R

    2014-11-01

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

  15. 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.

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

    PubMed

    Wang, Ying; Yin, Fei

    2016-05-01

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

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

    PubMed

    Spiegel, A D; Suskind, P B

    1996-06-01

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

  18. [A heroine for the Resistance: Anne-Mary, Jeanne Menut at Riom (1914-1944)].

    PubMed

    Guyotjeannin, C

    1997-01-01

    Anne-Mary Lafaye was born on may 16th 1914 just before world war I. Her parents were teachers and helped her to go up one step of the social scale; in 1939 she became a pharmacist. Quite an ordinary life, but another world war came. She married Max Menut, early resistant worker, and she was more and more involved, providing the maquis with bandages and medicines. She had made the choice of her values, and time of abnegation came. She had to hide her identity under the name of Marinette. She sold her pharmacy in Riom, she entrusted her daughter to her mother's care, and she had to take care of wounded fighters. Rapidly she was denounced, arrested, tortured and savagely executed.

  19. Echo hiding system for M_ary data and its robustness analysis

    NASA Astrophysics Data System (ADS)

    Qi, Yincheng; Yuan, Jinsha; Zhang, Jingxi

    2006-11-01

    Echo data hiding is an important approach of audio information hiding in the time domain. But it has serious disadvantages, such as low capacity, relatively low restoration rate and the possibility of malicious tampering, etc. In this paper, based on the simulation analysis of the relation between the detection performance (restoration rate) and the key parameters, we proposed a novel echo M-ary data hiding system using backward and forward echo kernel to improve the weak points of conventional echo data hiding. The subjective quality of the stego audio and the original audio has no evident difference and reach a good hiding effects. The capacity is increased from 50bit/s to 250 bit/s and the restoration rate reaches to 99% for speech in 8000Hz sample frequency, 16 bits quantization, i. e., M=32. And then, we also simulated the robustness performances, such as against adding white noise, resample, filtering, ADPCM compression, etc.

  20. 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.

  1. Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

    PubMed

    Kijima, Kazuki; Numakura, Chikahiko; Shirahata, Emi; Sawaishi, Yukio; Shimohata, Mitsuteru; Igarashi, Shuichi; Tanaka, Tomohiro; Hayasaka, Kiyoshi

    2004-01-01

    Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or X-linked demyelinating CMT. Three unrelated patients were homozygous for a novel R1070X mutation and presented early-onset but slowly progressive distal motor and sensory neuropathies. Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT. PMID:15197604

  2. Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.

    PubMed

    Pareyson, D

    1999-11-01

    Great advances have been made in understanding the molecular basis of Charcot-Marie-Tooth disease (CMT) and related neuropathies, namely Dejerine-Sottas disease (DSD), hereditary neuropathy with liability to pressure palsies (HNPP) and congenital hypomyelination (CH). The number of newly uncovered mutations and identified genetic loci is rapidly increasing, and, as a consequence, the classification of these disorders is becoming more complicated. Molecular genetics, animal models, and transfected cell studies are shedding light on function and dysfunction of proteins involved in hereditary myelinopathies-peripheral myelin protein 22 (PMP22), myelin protein zero (PO), connexin 32 (Cx32), and early growth response 2 (EGR2). Gene dosage effect, loss of function, gain of toxic function, and dominant negative effect are possible mechanisms whereby different gene mutations may exert their detrimental action on peripheral nerves. A tentative rational approach to clinical and molecular diagnosis based on genotype-phenotype correlation analysis is described. PMID:10514227

  3. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.

    PubMed

    Pareyson, D

    2004-06-01

    The diagnosis of Charcot-Marie-Tooth disease (CMT) and related neuropathies (e. g. Déjèrine-Sottas disease; hereditary neuropathy with liability to pressure palsies) appears to be easy. However, the incredible advances in molecular genetics have greatly complicated the classification of these disorders, and the proper diagnosis of the CMT subtype may be important for correct genetic counselling and prognosis. Moreover, these diseases may be confused with potentially treatable acquired and inherited neuropathies, such as dysimmune neuropathies, familial amyloid polyneuropathy, and Refsum's disease. A number of clinical, laboratory, electrophysiological, morphological and neuroradiological features that may help in the diagnostic process are reviewed in the present paper. DNA investigations are fundamental but need to be properly addressed. Currently, great interest is focused on the role of the immune system in hereditary neuropathies, and surprising findings are coming from research on animal models. PMID:15221625

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

    PubMed

    de La Rocque, L

    2001-01-01

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

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

    NASA Astrophysics Data System (ADS)

    Ostwald, J.

    1992-09-01

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

  6. Safety of nitrous oxide administration in patients with Charcot-Marie-Tooth disease.

    PubMed

    Isbister, Geoffrey K; Burns, Joshua; Prior, Felicity; Ouvrier, Robert A

    2008-05-15

    Nitrous oxide is routinely administered to children and adults with Charcot-Marie-Tooth disease (CMT) as an anaesthetic for procedures such as nerve conduction studies and maintenance for general anaesthesia. However it is listed as a 'moderate to significant' risk of potential toxicity and worsening neuropathy in people with CMT by the CMT Association (USA), CMT Association of Australia, CMT International (Canada) and CMT United Kingdom. We performed a systematic review focussing on the use of nitrous oxide in patients with CMT to help clarify its safety. This identified 11 studies reporting 41 exposures to therapeutically inhaled nitrous oxide as maintenance for general anaesthesia with no reports of adverse effects or worsening of CMT neuropathy. In the absence of a single case in the literature reporting worsening neuropathy in CMT patients receiving nitrous oxide, this review provides good evidence that nitrous oxide should be considered a safe agent for use in children and adults with CMT.

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

    PubMed

    Spiegel, A D; Suskind, P B

    1996-06-01

    In her teens, Mary Edwards Walker already wore the "bloomer" outfit began to campaign for reforming the "unhygienic" clothing of women. Assertively, she attended medical school and earned her M.D. degree. Due to prejudice, her practice did not flourish and she moved to Washington to offer her medical services to the Union as the Civil War began. Rebuffed by the male medical bureaucrats, she volunteered her services anyway. Eventually, she was awarded the Congressional Medal of Honor, the only women to ever gain such distinction. After the war, Walker became a journalist, an author of two sensational books, a political lobbyist, a suffrage campaigner, a professional and public lecturer, an ardent dress reformer, a peace activist, a Utopianist and a women's right advocate. Light-years ahead of her times, Dr. Walker was an intelligent, independent, irrepressible and indefatigable proponent for a host of worthy causes. PMID:8726211

  8. Cretaceous oblique detachment tectonics in the Fosdick Mountains, Marie Byrd Land, Antarctica

    USGS Publications Warehouse

    McFadden, R.; Siddoway, C.S.; Teyssier, C.; Fanning, C.M.; Kruckenberg, S.C.

    2007-01-01

    The Fosdick Mountains form an E-W trending migmatite dome in the northern Ford Ranges of Marie Byrd Land, Antarctica. Pervasively folded migmatites derived from lower Paleozoic greywacke and middle Paleozoic plutonic rocks constitute the dome. New field research documents a transition from melt-present to solid-state deformation across the south flank of the dome, and a mylonitic shear zone mapped for 30 km between Mt. Iphigene and Mt Richardson. Kinematic shear sense is dextral normal oblique, with top-to-the-SW and -WSW transport. A U-Pb age of 107 Ma, from a leucosome-filled extensional shear band, provides a meltpresent deformation age, and a U-Pb age of 96 Ma, from a crosscutting granitic dike, gives a lower age limit for deformation. The shear zone, here named the South Fosdick detachment zone, forms the south flank of the migmatite dome and was in part responsible for the exhumation of mid-crustal rocks.

  9. 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.

  10. Mary Parker Follett: epilogue to or return of a social work management pioneer?

    PubMed

    Selber, K; Austin, D M

    1997-01-01

    The authors present an overview of the major concepts and contributions of Mary Parker Follett to the development of social work management theory, past and present. The case is made for Follett to be afforded a more visible role in the profession's understanding and teaching of modern management theory and practice. The authors show how Follett's work served as an important bridge between changing eras in management thought, specifically as related to scientific management and the subsequent human relations models. Even after six decades, Follett's work, in its timelessness and timeliness, remains contemporary, for it is rooted in her keen ability to grasp the complexities inherent in the human services enterprise, and thus it continues to inform one's understanding and behavior within the organizational context.

  11. Human rights assessment in Parc Jean Marie Vincent, Port-au-Prince, Haiti.

    PubMed

    Cullen, Kimberly A; Ivers, Louise C

    2010-01-01

    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.

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

    USGS Publications Warehouse

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

    1998-01-01

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

  13. [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

  14. 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

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

    USGS Publications Warehouse

    Hiltunen, Jarl K.; Schloesser, Donald W.

    1983-01-01

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

  16. 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.…

  17. [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

  18. [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.

  19. Upper Mantle Structure Beneath the Whitmore Mountains, West Antarctic Rift System, and Marie Byrd Land from Body-Wave Tomography

    NASA Astrophysics Data System (ADS)

    Nyblade, A.; Lloyd, A. J.; Anandakrishnan, S.; Wiens, D. A.; Aster, R. C.; Huerta, A. D.; Wilson, T. J.; Shore, P.; Zhao, D.

    2011-12-01

    As part of the International Polar Year in Antarctica, 37 seismic stations have been installed across West Antarctica as part of the Polar Earth Observing Network (POLENET). 23 stations form a sparse backbone network of which 21 are co-located on rock sites with a network of continuously recording GPS stations. The remaining 14 stations, in conjunction with 2 backbone stations, form a seismic transect extending from the Ellsworth Mountains across the West Antarctic Rift System (WARS) and into Marie Byrd Land. Here we present preliminary P and S wave velocity models of the upper mantle from regional body wave tomography using P and S travel times from teleseismic events recorded by the seismic transect during the first year (2009-2010) of deployment. Preliminary P wave velocity models consisting of ~3,000 ray paths from 266 events indicate that the upper mantle beneath the Whitmore Mountains is seismically faster than the upper mantle beneath Marie Byrd Land and the WARS. Furthermore, we observe two substantial upper mantle low velocity zones located beneath Marie Byrd Land and near the southern boundary of the WARS.

  20. 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

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

    PubMed

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

    2016-02-01

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

  2. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

    PubMed

    Krajewski, K M; Lewis, R A; Fuerst, D R; Turansky, C; Hinderer, S R; Garbern, J; Kamholz, J; Shy, M E

    2000-07-01

    Charcot-Marie-Tooth disease type 1A (CMT1A), the most frequent form of CMT, is caused by a 1.5 Mb duplication on the short arm of chromosome 17. Patients with CMT1A typically have slowed nerve conduction velocities (NCVs), reduced compound motor and sensory nerve action potentials (CMAPs and SNAPs), distal weakness, sensory loss and decreased reflexes. In order to understand further the molecular pathogenesis of CMT1A, as well as to determine which features correlate with neurological dysfunction and might thus be amenable to treatment, we evaluated the clinical and electrophysiological phenotype in 42 patients with CMT1A. In these patients, muscle weakness, CMAP amplitudes and motor unit number estimates correlated with clinical disability, while motor NCV did not. In addition, loss of joint position sense and reduction in SNAP amplitudes also correlated with clinical disability, while sensory NCV did not. Taken together, these data strongly support the hypothesis that neurological dysfunction and clinical disability in CMT1A are caused by loss or damage to large calibre motor and sensory axons. Therapeutic approaches to ameliorate disability in CMT1A, as in amyotrophic lateral sclerosis and other neurodegenerative diseases, should thus be directed towards preventing axonal degeneration and/or promoting axonal regeneration. PMID:10869062

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

    PubMed

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

    2013-04-01

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

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

    NASA Technical Reports Server (NTRS)

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

    1986-01-01

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

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

    PubMed Central

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

    2009-01-01

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

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

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

    PubMed

    Kugelmann, Robert

    2005-01-01

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

  13. 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.

  14. 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.

  15. [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

  16. 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.

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

    PubMed Central

    Murphy, Sinead M.; Laura, Matilde; Fawcett, Katherine; Pandraud, Amelie; Liu, Yo-Tsen; Davidson, Gabrielle L; Rossor, Alexander M; Polke, James M; Castleman, Victoria; Manji, Hadi; Lunn, Michael P T; Bull, Karen; Ramdharry, Gita; Davis, Mary; Blake, Julian C; Houlden, Henry; Reilly, Mary M

    2013-01-01

    Background Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice. Methods The genes known to cause CMT were sequenced in 1607 patients with CMT (425 patients attending an inherited neuropathy clinic and 1182 patients whose DNA was sent to the authors for genetic testing) to determine the proportion of different subtypes in a UK population. Results A molecular diagnosis was achieved in 62.6% of patients with CMT attending the inherited neuropathy clinic; in 80.4% of patients with CMT1 (demyelinating CMT) and in 25.2% of those with CMT2 (axonal CMT). Mutations or rearrangements in PMP22, GJB1, MPZ and MFN2 accounted for over 90% of the molecular diagnoses while mutations in all other genes tested were rare. Conclusion Four commonly available genes account for over 90% of all CMT molecular diagnoses; a diagnostic algorithm is proposed based on these results for use in clinical practice. Any patient with CMT without a mutation in these four genes or with an unusual phenotype should be considered for referral for an expert opinion to maximize the chance of reaching a molecular diagnosis. PMID:22577229

  18. 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.

  19. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

    PubMed Central

    Polke, J.M.; Laurá, M.; Pareyson, D.; Taroni, F.; Milani, M.; Bergamin, G.; Gibbons, V.S.; Houlden, H.; Chamley, S.C.; Blake, J.; DeVile, C.; Sandford, R.; Sweeney, M.G.; Davis, M.B.

    2011-01-01

    Objective: Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing autosomal dominant disease, though families with homozygous or compound heterozygous mutations have been described. We present 3 families with early-onset CMT2 associated with compound heterozygous MFN2 mutations. Transcriptional analysis was performed to investigate the effects of the mutations. Methods: Patients were examined clinically and electrophysiologically; parents were also examined where available. Genetic investigations included MFN2 DNA sequencing and dosage analysis by multiplex ligation-dependent probe amplification. MFN2 mRNA transcripts from blood lymphocytes were analyzed in 2 families. Results: Compound heterozygosity for MFN2 mutations was associated with early-onset CMT2 of varying severity between pedigrees. Parents, where examined, were unaffected and were heterozygous for the expected mutations. Four novel mutations were detected (one missense, one nonsense, an intragenic deletion of exons 7 + 8, and a 3–base pair deletion), as well as 2 previously reported missense mutations. Transcriptional analysis demonstrated aberrant splicing of the exonic deletion and indicated nonsense-mediated decay of mutant alleles with premature truncating mutations. Conclusions: Our findings confirm that MFN2 mutations can cause early-onset CMT2 with apparent recessive inheritance. Novel genetic findings include an intragenic MFN2 deletion and nonsense-mediated decay. Carrier parents were asymptomatic, suggesting that MFN2 null alleles can be nonpathogenic unless coinherited with another mutation. PMID:21715711

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

    PubMed

    Murphy, Sinéad M; Ovens, Richard; Polke, James; Siskind, Carly E; Laurà, Matilde; Bull, Karen; Ramdharry, Gita; Houlden, Henry; Murphy, Raymond P J; Shy, Michael E; Reilly, Mary M

    2012-07-01

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

  1. Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

    PubMed Central

    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

    2014-01-01

    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

  2. Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X.

    PubMed

    Iacobelli, M; Greco, E; Rienzi, L; Ubaldi, F; Podini, D; Nuccitelli, A; Tesarik, J; Baldi, M; Fiorentino, F

    2003-11-01

    The X-linked dominant form of Charcot-Marie-Tooth syndrome (CMTX) is a clinically and genetically heterogeneous hereditary disorder of the peripheral nerves caused by mutations in the GJB1 gene that encodes a gap junction protein named connexin 32 (Cx32). Clinically, CMTX is characterized by peripheral motor and sensory deficit with muscle atrophy. A couple with a previous history of pregnancy termination after being diagnosed positive for CMTX by chorionic villus sampling, was referred for preimplantation genetic diagnosis (PGD). The female partner carried the causative H94Q, characterized by a C-->G substitution in codon 94 of exon 2 of the GJB1 gene. Embryos obtained after intracytoplasmic sperm injection (ICSI) were evaluated for the presence of the mother's mutation using polymerase chain reaction (PCR), followed by mutation analysis performed using the minisequencing method. Amelogenin sequences on the X and Y chromosomes were also co-amplified to provide a correlation between embryo gender and mutation presence. A single PGD cycle was performed, involving nine fertilized oocytes, five of which developed into good quality embryos useful for biopsy. Two unaffected embryos were transferred, resulting in a singleton pregnancy followed by the birth of a healthy female.

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

    USGS Publications Warehouse

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

    1998-01-01

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

  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. Structural Basis for the Trembler-J Phenotype of Charcot-Marie-Tooth Disease

    PubMed Central

    Sakakura, Masayoshi; Hadziselimovic, Arina; Wang, Zhen; Schey, Kevin L.; Sanders, Charles R.

    2011-01-01

    Summary Mutations in peripheral myelin protein 22 (PMP22) can result in the common peripheral neuropathy, Charcot-Marie-Tooth disease (CMTD). The Leu16Pro mutation in PMP22 results in misassembly of the protein, which causes the Trembler-J (TrJ) disease phenotype. Here we elucidate the structural defects present in a partially folded state of TrJ PMP22 that are decisive in promoting CMTD-causing misfolding. In this state transmembrane helices 2-4 (TM2-4) form a molten-globular bundle while transmembrane helix 1 (TM1) is dissociated from this bundle. The TrJ mutation was seen to profoundly disrupt the TM1 helix, resulting in increased backbone dynamics and changes in the tertiary interactions of TM1 with the PMP22 TM2-4 core in the folded state. Consequently, TM1 undergoes enhanced dissociation from the other transmembrane segments in TrJ PMP22, becoming available for recognition and sequestration by protein folding quality control, leading to loss of function and toxic accumulation of aggregates that results in CMTD. PMID:21827951

  6. Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

    PubMed

    Tokunaga, Shoko; Hashiguchi, Akihiro; Yoshimura, Akiko; Maeda, Kengo; Suzuki, Takashi; Haruki, Hiroyo; Nakamura, Tomonori; Okamoto, Yuji; Takashima, Hiroshi

    2012-11-01

    We identified the main features of Charcot-Marie-Tooth (CMT) disease, type 4F, caused by a periaxin gene (PRX) mutation in Japanese patients. Periaxin is known as one of the key myelination molecules, forming tight junction between myelin loop and axon. We collected 427 DNA samples from individuals with CMT or CMT-related neuropathy, negative for PMP22 duplication. We investigated PRX mutations using a purpose-built resequencing array screen during the period 2006-2012. We detected two types of PRX mutations in three patients; one patient showed a novel homozygous p.D651N mutation and the other two showed homozygous p.R1070X mutation. All PRX mutations reported so far have been of nonsense or frameshift type. In this study, we found homozygous missense mutation p.D651N. Aspartate 651 is located in a repeat domain; its position might indicate an important function. PRX mutations usually lead to early-onset, autosomal-recessive demyelinating CMT neuropathy 4F (CMT4F) or Dejerine-Sottas disease; their clinical phenotypes are severe. In our three patients, the onset of the disease was at the age of 27 years or later, and their clinical phenotypes were milder compared with those reported in previous studies. We showed a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation. PMID:22847150

  7. 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

  8. Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Exhibit Enhanced NGF-Stimulated Signaling

    PubMed Central

    Romero, Elsa; Wilson, Michael C.; Wandinger-Ness, Angela

    2010-01-01

    Missense mutants in the late endosomal Rab7 GTPase cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth disease type 2B (CMT2B). As yet, the pathological mechanisms connecting mutant Rab7 protein expression to altered neuronal function are undefined. Here, we analyze the effects Rab7 CMT2B mutants on nerve growth factor (NGF) dependent intracellular signaling in PC12 cells. The nerve growth factor receptor TrkA interacted similarly with Rab7 wild-type and CMT2B mutant proteins, but the mutant proteins significantly enhanced TrkA phosphorylation in response to brief NGF stimulation. Two downstream signaling pathways (Erk1/2 and Akt) that are directly activated in response to phospho-TrkA were differentially affected. Akt signaling, arising in response to activated TrkA at the plasma membrane was unaffected. However Erk1/2 phosphorylation, triggered on signaling endosomes, was increased. Cytoplasmic phospho-Erk1/2 persisted at elevated levels relative to control samples for up to 24 h following NGF stimulation. Nuclear shuttling of phospho Erk1/2, which is required to induce MAPK phosphatase expression and down regulate signaling, was greatly reduced by the Rab7 CMT2B mutants and explains the previously reported inhibition in PC12 neurite outgrowth. In conclusion, the data demonstrate a mechanistic link between Rab7 CMT2B mutants and altered TrkA and Erk1/2 signaling from endosomes. PMID:21151572

  9. [Molecular diagnosis of hereditary neuropathies such as Charcot-Marie-Tooth disease].

    PubMed

    Pouget, J

    2004-02-01

    During the last decade, molecular biology has demonstrated the extraordinary heterogeneity of genetic abnormalities in Charcot-Marie-Tooth disease (CMT). The main phenotypes are either of the demyelinating or axonal type, transmitted with dominant or recessive autosomal inheritance. X-linked CMT is less rare than it was initially described and is often misdiagnosed as autosomal dominant type. Linked phenotypes are Dejerine-Sottas disease, congenital hypomyelinization and hereditary neuropathy with susceptibility to pressure palsies. Each phenotype can be due to different genotypes and concerned genes are numerous. Conversely, each genotype can express different phenotypes. Molecular diagnostic strategy of CMT is mainly baised on three elements: - phenotypic expertise which is based on the analysis of the inheritance mode and on electrophysiological data, which are peculiar in CMTX - knowledge of respective occurrence of the different genotypes and phenotypes which is increasing - technical feasibility of molecular biology methods which is important to consider, even though progress are fastly coming. According to these considerations, a strategy is proposed for molecular diagnosis of CMT. PMID:15034475

  10. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

    PubMed

    Verhoeven, Kristien; Claeys, Kristl G; Züchner, Stephan; Schröder, J Michael; Weis, Joachim; Ceuterick, Chantal; Jordanova, Albena; Nelis, Eva; De Vriendt, Els; Van Hul, Matthias; Seeman, Pavel; Mazanec, Radim; Saifi, Gulam Mustafa; Szigeti, Kinga; Mancias, Pedro; Butler, Ian J; Kochanski, Andrzej; Ryniewicz, Barbara; De Bleecker, Jan; Van den Bergh, Peter; Verellen, Christine; Van Coster, Rudy; Goemans, Nathalie; Auer-Grumbach, Michaela; Robberecht, Wim; Milic Rasic, Vedrana; Nevo, Yoram; Tournev, Ivajlo; Guergueltcheva, Velina; Roelens, Filip; Vieregge, Peter; Vinci, Paolo; Moreno, Maria Teresa; Christen, H-J; Shy, Michael E; Lupski, James R; Vance, Jeffery M; De Jonghe, Peter; Timmerman, Vincent

    2006-08-01

    Mutations in mitofusin 2 (MFN2) have been reported in Charcot-Marie-Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients with distinct CMT phenotypes. In 29 probands, we identified 22 distinct MFN2 mutations, and 14 of these mutations have not been reported before. All mutations were located in the cytoplasmic domains of the MFN2 protein. Patients presented with a classical but rather severe CMT phenotype, since 28% of them were wheelchair-dependent. Some had additional features as optic atrophy. Most patients had an early onset and severe disease status, whereas a smaller group experienced a later onset and milder disease course. Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials. Examination of sural nerve specimens showed loss of large myelinated fibres and degenerative mitochondrial changes. In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population.

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

    PubMed

    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.

  12. 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

  13. 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.

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

    PubMed

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

    2016-01-01

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

  15. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis

    PubMed Central

    Zhang, Xin; Guo, Bi-Rong; Cai, Li-Qiong; Jiang, Tao; Sun, Liang-Dan; Cui, Yong; Hu, Jing-Chu; Zhu, Jun; Chen, Gang; Tang, Xian-Fa; Sun, Guang-Qing; Tang, Hua-Yang; Liu, Yuan; Li, Min; Li, Qi-Bin; Cheng, Hui; Gao, Min; Li, Ping; Yang, Xu; Zuo, Xian-Bo; Zheng, Xiao-Dong; Wang, Pei-Guang; Wang, Jian; Wang, Jun; Liu, Jian-Jun; Yang, Sen; Li, Ying-Rui; Zhang, Xue-Jun

    2012-01-01

    Background Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterised by coarse, wiry, twisted hair developed in early childhood and subsequent progressive hair loss. MUHH is a genetically heterogeneous disorder. No gene in 1p21.1–1q21.3 region responsible for MUHH has been identified. Methods Exome sequencing was performed on two affected subjects, who had normal vertex hair and modest alopecia, and one unaffected individual from a four-generation MUHH family of which our previous linkage study mapped the MUHH locus on chromosome 1p21.1–1q21.3. Results We identified a missense mutation in EPS8L3 (NM_024526.3: exon2: c.22G->A:p.Ala8Thr) within 1p21.1–1q21.3. Sanger sequencing confirmed the cosegregation of this mutation with the disease phenotype in the family by demonstrating the presence of the heterozygous mutation in all the eight affected and absence in all the seven unaffected individuals. This mutation was found to be absent in 676 unrelated healthy controls and 781 patients of other disease from another unpublished project of our group. Conclusions Taken together, our results suggest that EPS8L3 is a causative gene for MUHH, which was helpful for advancing us on understanding of the pathogenesis of MUHH. Our study also has further demonstrated the effectiveness of combining exome sequencing with linkage information for identifying Mendelian disease genes. PMID:23099647

  16. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

    PubMed Central

    McCorquodale, Donald S.; Montenegro, Gladys; Peguero, Ainsley; Carlson, Nicole; Speziani, Fiorella; Price, Justin; Taylor, Sean W.; Melanson, Michel; Vance, Jeffery M.

    2011-01-01

    Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset stroke. Mutations in MFN2 account for up to 20–30% of all axonal CMT type 2 cases. To further investigate the prevalence of MFN2 mutations and to add to the genotypic spectrum, we sequenced all exons of MFN2 in a cohort of 39 CMT2 patients. We identified seven variants, four of which are novel. One previously described change was co-inherited with a PMP22 duplication, which itself causes the demyelinating form CMT1A. Another mutation was a novel in frame deletion, which is a rare occurrence in the genotypic spectrum of MFN2 characterized mainly by missense mutations. Our results confirm a MFN2 mutation rate of ~ 15–20% in CMT2. PMID:21258814

  17. Animal models of Charcot-Marie-Tooth disease type 1A.

    PubMed

    Sereda, M W; Nave, K-A

    2006-01-01

    The most frequent genetic subtype of Charcot-Marie-Tooth disease is CMT1A, linked to chromosome 17p11.2. In the majority of cases, CMT1A is a gene dosage disease associated with a 1.5 Mb large genomic duplication. Transgenic models with extra copies of the Pmp22 gene have provided formal proof that overexpression of only this candidate gene is sufficent to cause peripheral demyelination, onion bulb formation, secondary axonal loss, and progressive muscle atrophy, the pathological hallmarks of CMT1A. The transgenic CMT rat with about 1.6-fold PMP22 overexpression exhibits clinical abnormalities, such as reduced nerve conduction velocity and lower grip strength that mimick findings in CMT1A patients. Also transgenic mice, carrying yeast artifical chromosomes as Pmp22 transgenes, demonstrate the variability of disease expression as a function of increased gene dosage. Recently, the first rational experimental therapies of CMT1A were tested, using transgenic animal models. In one proof-of-principle study with the CMT rat, a synthetic antagonist of the nuclear progesterone receptor was shown to reduce PMP22 overexpression and to ameliorate the clinical severity. In another study, administration of ascorbic acid, an essential factor of in vitro myelination, prolonged the survival and restored myelination of a dysmyelinated mouse model. Application of gene expression analysis to nerve biopsies that are readily available from such CMT1A animal models might identify additional pharmacological targets.

  18. 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.

  19. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

    PubMed

    Pedroso, José Luiz; Rocha, Clarissa R R; Macedo-Souza, Lucia I; De Mario, Vitor; Marques, Wilson; Barsottini, Orlando G P; Bulle Oliveira, Acary S; Menck, Carlos F M; Kok, Fernando

    2015-12-01

    PNKP (polynucleotide kinase 3'-phosphatase, OMIM #605610) product is involved in the repair of strand breaks and base damage in the DNA molecule mainly caused by radical oxygen species. Deleterious variants affecting this gene have been previously associated with microcephaly, epilepsy, and developmental delay.(1) According to a previous report, homozygous loss-of-function substitution in PNKP was associated with cerebellar atrophy, neuropathy, microcephaly, epilepsy, and intellectual disability.(2) Recently, whole-exome sequencing (WES) performed in a cohort of Portuguese families with ataxia with oculomotor apraxia (AOA) disclosed pathogenic variants in PNKP in 11 individuals. Other clinical features in that study included neuropathy, dystonia, cognitive impairment, decreased vibration sense, pyramidal signs, mild elevation in α-fetoprotein, and low levels of albumin. This condition was named AOA type 4 (OMIM #616267), as the phenotype of AOA has been previously associated with 3 other genes: APTX, SETX, and PIK3R5.(3) Altogether, these reports demonstrate the great phenotypic diversity associated with PNKP mutations. In this article, we further enlarge this variability by demonstrating that early-onset axonal sensory-motor neuropathy (or axonal Charcot-Marie-Tooth (CMT) disease) followed years later by ataxia without oculomotor apraxia can be caused by deleterious variants in PNKP. Full consent was obtained from the patient and his parents for this publication. This study was approved by institutional ethics committees. PMID:27066567

  20. Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.

    PubMed

    McCorquodale, Donald; Pucillo, Evan M; Johnson, Nicholas E

    2016-01-01

    Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Rapidly developing genetic discoveries and novel gene discovery techniques continue to add a growing number of genetic subtypes of CMT. The first large clinical natural history and therapeutic trials have added to our knowledge of each CMT subtype and revealed how CMT impacts patient quality of life. In this review, we discuss several important trends in CMT research factors that will require a collaborative multidisciplinary approach. These include the development of large multicenter patient registries, standardized clinical instruments to assess disease progression and disability, and increasing recognition and use of patient-reported outcome measures. These developments will continue to guide strategies in long-term multidisciplinary efforts to maintain quality of life and preserve functionality in CMT patients.

  1. Selective glacial erosion and weathering zones in the coastal mountains of Marie Byrd Land, Antarctica

    NASA Astrophysics Data System (ADS)

    Sugden, David E.; Balco, Greg; Cowdery, Seth G.; Stone, John O.; Sass, Louis C.

    2005-04-01

    In the coastal mountains of Marie Byrd Land, Antarctica, there is a juxtaposition of ice moulded landforms at lower altitudes and upstanding summits with weathered surfaces bearing tors. This paper uses geomorphological mapping and exposure dating to test two hypotheses commonly used to explain such a landscape contrast: either the pattern reflects contrasts in glacial erosion related to the basal thermal regime beneath a former ice sheet or it represents a periglacial trimline marking the upper limit of ice cover during the Last Glacial Maximum (LGM). Cosmogenic nuclide measurements on erratics show that the mountains were covered by ice on several occasions, most recently during the LGM. Similar measurements on bedrock show that fragile landforms on weathered surfaces survived many glaciations. Nuclide concentrations in bedrock indicate both that subglacial erosion is insignificant and that ice-free periods of periglacial weathering are longer at higher elevations. We conclude that the pattern of landscape modification reflects both topographically controlled contrasts in the basal thermal regime of overriding ice and the longer exposure to periglacial conditions at higher elevations. In addition, the combination of nuclide data and the wider pattern of striations shows that the LGM ice cover was thinner than predicted by ice sheet models assuming equilibrium conditions, that ice sheet thinning has occurred from 10,400 years ago to the present, and that regional flow by overriding ice has been replaced by radial ice flow from local glaciers centred on individual mountain massifs.

  2. [Anemia among schoolchildren 5 to 14 years old in Sainte Marie (Madagascar)].

    PubMed

    Blanchy, S; Genin, C; Rene, P; Randriasamimanana, J R; Lepers, J P

    1993-01-01

    The Island of Sainte Marie is located at 6 km from the Eastern Coast of Madagascar. The climate is a muggy tropical one, with an average temperature rising above 20 degrees C all along the year and precipitations superior to 2500 mm. In 1990, a clinical surveillance of ten affections has been performed by every health units of the Island: paludal syndromes, nutrition disorders and anemia have been the focus of symptomatic definition. Blood samples have been taken from 100 pupils of the village of Ambodiforaha for hemogram determination and research of malaria hematozoon. Four pupils out of five show biological anemia, more than 10% suffer from acute anemia (less than 3.5 millions of red blood cells for each microliters, hematocrit inferior to 30, less than 9 g of hemoglobin for 100 ml). 87% suffer from nutritional anemia, 17% from iron-deficient anemia. Those figures cannot be found in health statistics. There is a high rate of nutritional and iron deficient anemia, but the problem is not well perceived or not at all by the health system. Anemia must be related to the strength of paludal transmission, to the importance of nutrition disorders and the prevalence of intestinal parasitosis. A better knowledge of the epidemiology of anemias and their morbid consequences would allow the setting of a prevention programme useful for children under 5 years and for pregnant women.

  3. 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

  4. 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

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

    PubMed Central

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

    2016-01-01

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

  6. 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

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

    PubMed

    Smith, Tracy; Gordon, Tom

    2009-02-01

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

  8. View of 'Cape Verde' from 'Cape St. Mary' in Mid-Afternoon (False Color)

    NASA Technical Reports Server (NTRS)

    2006-01-01

    As part of its investigation of 'Victoria Crater,' NASA's Mars Exploration Rover Opportunity examined a promontory called 'Cape Verde' from the vantage point of 'Cape St. Mary,' the next promontory clockwise around the crater's deeply scalloped rim. This view of Cape Verde combines several exposures taken by the rover's panoramic camera into an approximately false-color mosaic. The exposures were taken during mid-afternoon lighting conditions.

    The upper portion of the crater wall contains a jumble of material tossed outward by the impact that excavated the crater. This vertical cross-section through the blanket of ejected material surrounding the crater was exposed by erosion that expanded the crater outward from its original diameter, according to scientists' interpretation of the observations. Below the jumbled material in the upper part of the wall are layers that survive relatively intact from before the crater-causing impact.

    The images combined into this mosaic were taken during the 1,006th Martian day, or sol, of Opportunity's Mars-surface mission (Nov. 22, 2006). The panoramic camera took them through the camera's 750-nanometer, 530-nanometer and 430-nanometer filters. The false color enhances subtle color differences among materials in the rocks and soils of the scene.

  9. View of 'Cape Verde' from 'Cape St. Mary' in Late Morning (False Color)

    NASA Technical Reports Server (NTRS)

    2006-01-01

    As part of its investigation of 'Victoria Crater,' NASA's Mars Exploration Rover Opportunity examined a promontory called 'Cape Verde' from the vantage point of 'Cape St. Mary,' the next promontory clockwise around the crater's deeply scalloped rim. This view of Cape Verde combines several exposures taken by the rover's panoramic camera into a false-color mosaic. The exposures were taken during late-morning lighting conditions.

    The upper portion of the crater wall contains a jumble of material tossed outward by the impact that excavated the crater. This vertical cross-section through the blanket of ejected material surrounding the crater was exposed by erosion that expanded the crater outward from its original diameter, according to scientists' interpretation of the observations. Below the jumbled material in the upper part of the wall are layers that survive relatively intact from before the crater-causing impact.

    The images combined into this mosaic were taken during the 1,006th Martian day, or sol, of Opportunity's Mars-surface mission (Nov. 22, 2006). The panoramic camera took them through the camera's 750-nanometer, 530-nanometer and 430-nanometer filters. The false color enhances subtle color differences among materials in the rocks and soils of the scene.

  10. View of 'Cape Verde' from 'Cape St. Mary' in Mid-Afternoon

    NASA Technical Reports Server (NTRS)

    2006-01-01

    As part of its investigation of 'Victoria Crater,' NASA's Mars Exploration Rover Opportunity examined a promontory called 'Cape Verde' from the vantage point of 'Cape St. Mary,' the next promontory clockwise around the crater's deeply scalloped rim. This view of Cape Verde combines several exposures taken by the rover's panoramic camera into an approximately true-color mosaic. The exposures were taken during mid-afternoon lighting conditions.

    The upper portion of the crater wall contains a jumble of material tossed outward by the impact that excavated the crater. This vertical cross-section through the blanket of ejected material surrounding the crater was exposed by erosion that expanded the crater outward from its original diameter, according to scientists' interpretation of the observations. Below the jumbled material in the upper part of the wall are layers that survive relatively intact from before the crater-causing impact.

    The images combined into this mosaic were taken during the 1,006th Martian day, or sol, of Opportunity's Mars-surface mission (Nov. 22, 2006). The panoramic camera took them through the camera's 750-nanometer, 530-nanometer and 430-nanometer filters.

  11. View of 'Cape Verde' from 'Cape St. Mary' in Late Morning

    NASA Technical Reports Server (NTRS)

    2006-01-01

    As part of its investigation of 'Victoria Crater,' NASA's Mars Exploration Rover Opportunity examined a promontory called 'Cape Verde' from the vantage point of 'Cape St. Mary,' the next promontory clockwise around the crater's deeply scalloped rim. This view of Cape Verde combines several exposures taken by the rover's panoramic camera into an approximately true-color mosaic. The exposures were taken during late-morning lighting conditions.

    The upper portion of the crater wall contains a jumble of material tossed outward by the impact that excavated the crater. This vertical cross-section through the blanket of ejected material surrounding the crater was exposed by erosion that expanded the crater outward from its original diameter, according to scientists' interpretation of the observations. Below the jumbled material in the upper part of the wall are layers that survive relatively intact from before the crater-causing impact.

    The images combined into this mosaic were taken during the 1,006th Martian day, or sol, of Opportunity's Mars-surface mission (Nov. 22, 2006). The panoramic camera took them through the camera's 750-nanometer, 530-nanometer and 430-nanometer filters.

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

    PubMed

    Kugelmann, Robert

    2005-01-01

    In the 1960s, humanistic psychology changed the relationship between psychology and religion by actively asserting the value of individual experience and self-expression. This was particularly evident in the encounter group movement. Beginning in 1967, Carl Rogers conducted a series of encounter groups, in order to promote "self-directed change in an educational system," for the Sisters of the Immaculate Heart of Mary, a religious order in California running an educational system. William Coulson, one of Rogers's associates in the project, later charged that the encounter groups undermined the religious order and played a major contributing part in the breakup of the order in 1970. The article examines these charges, situating the incident within the context of the changes occurring in religious life and in psychology in the 1960s. The article concludes that an already existing conflict the nuns had with the conservative Cardinal McIntyre of Los Angeles led to the departure of some 300 nuns from the order, who began the Immaculate Heart Community, an organization existing today. Nevertheless, encounter groups proved to be a psychological technology that helped to infuse a modern psychological--specifically, a humanistic psychological--perspective into contemporary religious life. PMID:16196049

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

    NASA Astrophysics Data System (ADS)

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

    2010-05-01

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

  14. 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

  15. 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.

  16. 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.

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

    PubMed Central

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

    2014-01-01

    BACKGROUND: In certain diseases, functional constraints establish a greater relationship with muscle power than muscle strength. However, in hereditary peripheral polyneuropathies, no such relationship was found in the literature. OBJECTIVE: In children with Charcot-Marie-Tooth (CMT), to identify the impact of muscle strength and range of movement on the static/dynamic balance and standing long jump based on quantitative and functional variables. METHOD: The study analyzed 19 participants aged between 6 and 16 years, of both genders and with clinical diagnoses of CMT of different subtypes. Anthropometric data, muscle strength of the lower limbs (hand-held dynamometer), ankle and knee range of movement, balance (Pediatric Balance Scale) and standing long jump distance were obtained by standardized procedures. For the statistical analysis, Pearson and Spearman correlation coefficients were used. RESULTS: There was a strong positive correlation between balance and the muscle strength of the right plantar flexors (r=0.61) and dorsiflexors (r=0.59) and a moderate correlation between balance and the muscle strength of inversion (r=0.41) and eversion of the right foot (r=0.44). For the long jump and range of movement, there was a weak positive correlation with right and left plantar flexion (r=0.20 and r=0.12, respectively) and left popliteal angle (r=0.25), and a poor negative correlation with left dorsiflexion (r=-0.15). CONCLUSIONS: The data on the patients analyzed suggests that the maintenance of distal muscle strength favors performance during balance tasks, while limitations in the range of movement of the legs seem not to be enough to influence the performance of the horizontal long jump. PMID:25076001

  18. Genetic Deletion of Cadm4 Results in Myelin Abnormalities Resembling Charcot-Marie-Tooth Neuropathy

    PubMed Central

    Golan, Neev; Kartvelishvily, Elena; Spiegel, Ivo; Salomon, Daniela; Sabanay, Helena; Rechav, Katya; Vainshtein, Anya; Frechter, Shahar; Maik-Rachline, Galia; Eshed-Eisenbach, Yael; Momoi, Takashi

    2013-01-01

    The interaction between myelinating Schwann cells and the axons they ensheath is mediated by cell adhesion molecules of the Cadm/Necl/SynCAM family. This family consists of four members: Cadm4/Necl4 and Cadm1/Necl2 are found in both glia and axons, whereas Cadm2/Necl3 and Cadm3/Necl1 are expressed by sensory and motor neurons. By generating mice lacking each of the Cadm genes, we now demonstrate that Cadm4 plays a role in the establishment of the myelin unit in the peripheral nervous system. Mice lacking Cadm4 (PGK-Cre/Cadm4fl/fl), but not Cadm1, Cadm2, or Cadm3, develop focal hypermyelination characterized by tomacula and myelin outfoldings, which are the hallmark of several Charcot-Marie-Tooth neuropathies. The absence of Cadm4 also resulted in abnormal axon–glial contact and redistribution of ion channels along the axon. These neuropathological features were also found in transgenic mice expressing a dominant-negative mutant of Cadm4 lacking its cytoplasmic domain in myelinating glia Tg(mbp-Cadm4dCT), as well as in mice lacking Cadm4 specifically in Schwann cells (DHH-Cre/Cadm4fl/fl). Consistent with these abnormalities, both PGK-Cre/Cadm4fl/fl and Tg(mbp-Cadm4dCT) mice exhibit impaired motor function and slower nerve conduction velocity. These findings indicate that Cadm4 regulates the growth of the myelin unit and the organization of the underlying axonal membrane. PMID:23825401

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

    PubMed

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

    2015-01-01

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

  20. 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.

  1. Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

    PubMed

    De Vos, A; Sermon, K; De Rijcke, M; Goossens, V; Henderix, P; Van Ranst, N; Platteau, P; Lissens, W; Devroey, P; Van Steirteghem, A; Liebaers, I

    2003-07-01

    Charcot-Marie-Tooth (CMT) disease is the 'common' name for a range of hereditary peripheral neuropathies. CMT1 is the most common form and is transmitted in an autosomal dominant manner. CMT1A maps to chromosome 17p11.2 and is caused, in the majority of cases, by a 1.5 Mb DNA duplication, that includes the peripheral myelin protein 22 (PMP) gene. This paper reports on preimplantation genetic diagnosis (PGD) for CMT1A in five couples. The CMT1A duplication was detected by fluorescent PCR analysis using polymorphic (CA)n markers localized within the duplication. Single-cell PCR on blastomeres allowed genetic analysis of embryos obtained after ICSI. Only healthy unaffected embryos were transferred to the uterus. PCR experiments with single EBV-transformed lymphoblasts or with research blastomeres allowed the evaluation of amplification efficiencies, as well as contamination and allele drop-out (ADO) rates for each PCR protocol. Three simplex PCR protocols (using one primer pair) and two duplex PCR protocols (using two primer pairs) were developed for CMT1A. Additionally, a protocol using all three primer pairs in triplex was also established. Thirteen clinical ICSI-PGD cycles were performed for five couples (12 simplex PCR cycles and one duplex PCR cycle), resulting in seven embryo transfers. Three singleton pregnancies ensued in two couples and three healthy babies were delivered. This report describes different fluorescent PCR-based tests which allow efficient and accurate single-cell level detection of the CMT1A duplication. On the basis of the presence of the healthy allele of the affected parent-to-be (and/or absence of the affected one), healthy embryos can be selected for transfer. The assays are suitable for PGD for other couples who present with the same CMT1A duplication [depending on their informativity for the (CA)n markers available] as described here.

  2. 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

  3. 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.

  4. Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

    PubMed

    Houlden, Henry; Reilly, Mary M

    2006-01-01

    Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of disorders and is the most common inherited neuromuscular disorder, with an estimated overall prevalence of 17-40/10,000. Although there has been major advances in the understanding of the genetic basis of CMT in recent years, the most useful classification is still a neurophysiological classification that divides CMT into type 1 (demyelinating; median motor conduction velocity < 38 m/s) and type 2 (axonal; median motor conduction velocity > 38 m/s). An intermediate type is also increasingly being described. Inheritance can be autosomal-dominant (AD), X-linked, or autosomal-recessive (AR). AD CMT1 is the most common type of CMT and was the first form of CMT in which a causative gene was described. This review provides an up-to-date overview of AD CMT1 concentrating on the molecular genetics as the clinical, neurophysiological, and pathological features have been covered elsewhere. Four genes (PMP22, MPZ, LITAF, and EGR2) have been described in the last 15 yr associated with AD CMTI and a further gene (NEFL), originally described as causing AD CMT2 can also cause AD CMT1 (by neurophysiological criteria). Studies have shown many of these genes, when mutated, can cause a wide range of CMT phenotypes from the relatively mild CMT1 to the more severe Dejerine-Sottas disease and congenital hypomyelinating neuropathy, and even in some cases axonal CMT2. This review discusses what is known about these genes and in particular how they cause a peripheral neuropathy, when mutated. PMID:16775366

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

    PubMed

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

    2010-01-01

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

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

    PubMed

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

    2015-01-01

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

  7. 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.

  8. 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

  9. Discovery of a cell wall porin in the mycolic-acid-containing actinomycete Dietzia maris DSM 43672.

    PubMed

    Mafakheri, Samaneh; Bárcena-Uribarri, Iván; Abdali, Narges; Jones, Amanda L; Sutcliffe, Iain C; Benz, Roland

    2014-04-01

    The cell wall of the Gram-positive mycolic-acid-containing actinomycete Dietzia maris DSM 43672 was found to contain a pore-forming protein, as observed from reconstitution experiments with artificial lipid bilayer experiments in the presence of cell wall extracts. The cell wall porin was purified to homogeneity using different biochemical methods and had an apparent molecular mass of about 120 kDa on tricine-containing SDS/PAGE. The 120 kDa protein dissociated into subunits with a molecular mass of about 35 kDa when it was heated to 100 °C in 8 m urea. The 120 kDa protein, here named PorADm , formed ion-permeable channels in lipid bilayer membranes with a high single-channel conductance of about 5.8 nS in 1 m KCl. Asymmetric addition of PorADm to lipid bilayer membranes resulted in an asymmetric voltage dependence. Zero-current membrane potential measurements with different salt solutions suggested that the porin of D. maris is cation-selective because of negative charges localized at the channel mouth. Analysis of the single-channel conductance using non-electrolytes with known hydrodynamic radii indicated that the diameter of the cell wall channel is about 2 nm. The channel characteristics of the cell wall porin of D. maris are compared with those of other members of the mycolata. They share some common features because they are composed of small molecular mass subunits and form large and water-filled channels. The porin was subjected to protein analysis by mass spectrometry but its sequence had no significant homology to any known porin sequences.

  10. 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.

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

    PubMed

    Johnston, J D

    2005-06-01

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

  13. 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

  14. 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

  15. The performance of M-ary FH-DPSK in the presence of partial-band multitone jamming

    NASA Technical Reports Server (NTRS)

    Simon, M. K.

    1982-01-01

    Using a geometric approach, the performance of M-ary FH-DPSK in the presence of partial-band multitone jamming is evaluated. The optimal jamming strategy is determined as a function of the number of signaling levels M and the ensuing results are used to determine worst case bit error probability performance as a function of this same parameter. It is demonstrated that, for M = 2 to the m power (where m is an integer), the best performance is obtained for M = 4.

  16. 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.

  17. [Comparison of efficiencies of oil-oxidizing Dietzia maris strain and stimulation of natural microbial communities in remediation of polluted soil].

    PubMed

    Pleshakova, E V; Dubrovskaia, E V; Turkovskaia, O V

    2008-01-01

    Two approaches to bioremediation of oil-polluted soils are compared: use of active degrader strain Dietzia maris AM3 and stimulation of natural microflora. Introduction of D. maris AM3 to soil freshly polluted with oil accelerated its remediation twofold within the first month in comparison with the stimulation. After three months, the purification degrees were approximately equal. By the end of bioremediation, the soil with the introduced strain had higher dehydrogenase and catalase activities. In soil with multiyear pollution, introduced strain D. maris AM3 did not affect the rate of oil product degradation, and no significant differences between the two bioremediation methods were detected in purification degree and biological activity of soil after three months.

  18. 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…

  19. [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.

  20. [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

  1. 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.

  2. 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.

  3. The Case for a Late Oligocene-Early Miocene Ice Sheet in Marie Byrd Land

    NASA Astrophysics Data System (ADS)

    Lemasurier, W. E.; Rocchi, S.

    2004-12-01

    A rough estimate of Neogene climate history can be inferred for coastal Marie Byrd Land (MBL) from the record contained in volcanic deposits, and from anomalies in the erosion characteristics of Cenozoic volcanic and plutonic features. As a prelude to the Neogene, a 34 Ma gabbroic pluton in eastern MBL was exhumed by removal of at least 4 km of overburden, apparently during a period of rapid uplift and erosion between 34 and 25 Ma. The depth of erosion represented by the exposure of this pluton contrasts sharply with the generally minimal erosion that seems to have characterized the MBL environment throughout much of the Neogene. Thus, the Neogene seems to have been ushered in by a pronounced decrease in erosion rate that has climatic implications. Late Oligocene hydrovolcanic deposits at the summit of Mt. Petras, on the crest of the MBL dome, seem to record the presence of glacial ice at the time they were erupted (25-29 Ma). However, uplift of the dome did not begin until the early Neogene, and the landscape 25 m.y. ago was probably one of very low relief, represented by the West Antarctic erosion surface. The inferred glacial ice was therefore most likely an ice sheet, rather than a mountain glacier. Although tentative, and contrary to interpretations of the deep sea proxy record, this suggestion of mid-Tertiary glaciation in West Antarctica is supported by two other lines of evidence. (1) The deep dissection of Mt. Petras (Oligocene and older rocks) by glacial cirques is anomalous when compared with nearby mid-Miocene (12-14 Ma) Mt. Hampton volcano, which is virtually untouched by erosion. Our analysis of this anomaly suggests that the Petras cirques were cut mainly before Mt. Hampton formed, i.e. between 14 Ma and 25 Ma, as the Petras fault block was rising. (2) Further support can be found in recently reported seismic-stratigraphic evidence for grounding of an expanded West Antarctic ice sheet in the Ross Sea around 15-17 Ma. Although the MBL data are

  4. 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.

  5. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

    PubMed

    Kostera-Pruszczyk, Anna; Kosinska, Joanna; Pollak, Agnieszka; Stawinski, Piotr; Walczak, Anna; Wasilewska, Krystyna; Potulska-Chromik, Anna; Szczudlik, Piotr; Kaminska, Anna; Ploski, Rafal

    2014-09-01

    The aim of our study was to characterize electrophysiologically and explain the genetic cause of severe Charcot-Marie-Tooth (CMT) in a 3.5-year-old with asymptomatic parents and a maternal grandfather with a history of mild adult-onset axonal neuropathy. Severity of neuropathy was assessed by Charcot-Marie-Tooth neuropathy score (CMTNS). Whole-exome sequencing was performed using an Illumina TruSeq Exome Enrichment Kit on the HiSeq 1500 with results followed up by Sanger sequencing on an ABI Prism 3500XL (Applied Biosystems, Foster City, CA, USA). Paternity was confirmed using a panel of 15 hypervariable markers. Electrophysiological studies demonstrated severe axonal sensory-motor neuropathy in the proband, mild motor neuropathy in his mother, and mild sensory-motor neuropathy in his grandfather. CMTNS in the proband, his mother, and grandfather was 21, 1, and 12, respectively. On genetic analysis, the boy was found to carry a heterozygous dominant MFN2 T236M mutation transmitted via the maternal line and a de novo GDAP1 H123R mutation. Our findings emphasize the need to search for more than one causative mutation when significant intrafamilial variability of CMT phenotype occurs and underline the role of whole-exome sequencing in the diagnosis of compound forms of CMT disease.

  6. The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two Cases

    PubMed Central

    Dimitrova, Erieta Nikolikj; Božinovikj, Ivana; Ristovska, Simona; Pejcikj, Aleksandra Hadzieva; Kolevska, Aleksandra; Hasani, Mirjeta

    2016-01-01

    BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a hereditary disease with signs of chronic non-progressive motor-sensory neuropathy which is characterised by symmetric muscle atrophy and weakness of the distal portion of lower extremities. AIM: The aim is to present two cases with peroneal muscular atrophy, applied rehabilitation procedures and rehabilitation outcome. MATERIAL AND METHODS: Patient DR, aged 51, and patient KH, aged 78. Both patients had weakness and pronounced atrophy of the distal portion of lower extremities, numbness down the legs, contractures in the ankles and walking difficulties. Evaluation of patients included a clinical examination, Barthel Index, Time Up and Go test, measurement of the ankle range of motion, and a manual muscle test. On admission, the Barthel Index score was 60 in the first case, and 80 in the second. The rehabilitation program included exercise therapy with for lower extremity, occupational therapy, stationary bicycle riding, galvanic current, water exercises, and ankle-foot orthoses for both legs. RESULTS: The therapy applied had no significant changes in the clinical neurological status of the patients, but yet it provided some improvement in ankle contractures, better mobility, and a more stable gait. CONCLUSION: The application of rehabilitation procedures in patients with Charcot-Marie-Tooth disease can improve their functional status and walking stability. PMID:27703571

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

    PubMed

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

    2011-08-01

    Autosomal recessive Charcot-Marie-Tooth diseases, relatively common in Algeria due to high prevalence of consanguineous marriages, are clinically and genetically heterogeneous. We report on two consanguineous families with demyelinating autosomal recessive Charcot-Marie-Tooth disease (CMT4) associated with novel homozygous mutations in the MTMR2 gene, c.331dupA (p.Arg111LysfsX24) and PRX gene, c.1090C>T (p.Arg364X) respectively, and peculiar clinical phenotypes. The three patients with MTMR2 mutations (CMT4B1 family) had a typical phenotype of severe early onset motor and sensory neuropathy with typical focally folded myelin on nerve biopsy. Associated clinical features included vocal cord paresis, prominent chest deformities and claw hands. Contrasting with the classical presentation of CMT4F (early-onset Dejerine-Sottas phenotype), the four patients with PRX mutations (CMT4F family) had essentially a late age of onset and a protracted and relatively benign evolution, although they presented marked spine deformities. These observations broaden the spectrum of clinical phenotypes associated with these two CMT4 forms. PMID:21741241

  8. Marie Rozette and her world: class, ethnicity, gender, and race in late eighteenth- and early nineteenth-century Mauritius.

    PubMed

    Allen, Richard B

    2011-01-01

    In 1790, Marie Rozette, a freedwoman of Indian origin on Mauritius, executed a series of notarial acts which revealed that she possessed a small fortune in cash assets as well as slaves and substantial landed property in one of the island’s rural districts. The life of this former slave between 1776, when she first appears in the archival record, and her death in 1804 provides a vantage point from which to gain a subaltern perspective on aspects of Mascarene social and economic history, as well as developments in the wider Indian Ocean world during the late eighteenth and early nineteenth centuries. Marie Rozette’s life history challenges the notion that free persons of color in Mauritius were little more than an “unappropriated” people, and invites us to consider how supposedly marginalized individuals were able to cross various socio-economic and cultural boundaries. More specifically, her life affords an opportunity to consider the ways in which class, ethnicity, and gender, as well as race, interacted to create a distinctive Creole society in Mauritius, the nature and dynamics of which bear directly on our knowledge and understanding of the free colored experience elsewhere in the European colonial slave plantation world.

  9. 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

  10. 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

  11. 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...

  12. 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)

  13. Elegant dinner raises $500,000 for St. Mary's endowment fund. Green Bay Packers attend first event at restored Lambeau Field.

    PubMed

    Botvin, Judith D

    2004-01-01

    A fundraiser for St. Mary's Hospital Medical Center, Green Bay, Wis., received a huge public response. Inspired and facilitated by Madeline Harlan, wife of Green Bay Packers president and CEO, Bob Harlan, it was the first event in the Packers' new Lambeau Field.

  14. Mary's First Schoolday in Paris: A Set of Six Culture Assimilators Written in English for Use in French Classes at All Levels.

    ERIC Educational Resources Information Center

    Lapeyre, Andrea

    A set of six programmed culture assimilators, written in English for use in French classes at all levels, is presented. The assimilators do not deal with specific classroom activities but rather with Mary's activities outside class. The assimilators are entitled: Having Breakfast, Taking the Bus, In the Latin Quarter, Lunch in a Cafe, In the…

  15. 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

  16. 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

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

    PubMed

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

    1998-03-01

    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.

  18. A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D).

    PubMed

    Seo, Ah Jung; Shin, Youn Ho; Lee, Seo Jin; Kim, Doyeun; Park, Byung Sun; Kim, Sunghoon; Choi, Kyu Ha; Jeong, Na Young; Park, Chan; Jang, Ji-Yeon; Huh, Youngbuhm; Jung, Junyang

    2014-04-01

    Charcot-Marie-Tooth disease type 2D is a hereditary axonal and glycyl-tRNA synthetase (GARS)-associated neuropathy that is caused by a mutation in GARS. Here, we report a novel GARS-associated mouse neuropathy model using an adenoviral vector system that contains a neuronal-specific promoter. In this model, we found that wild-type GARS is distributed to peripheral axons, dorsal root ganglion (DRG) cell bodies, central axon terminals, and motor neuron cell bodies. In contrast, GARS containing a G240R mutation was localized in DRG and motor neuron cell bodies, but not axonal regions, in vivo. Thus, our data suggest that the disease-causing G240R mutation may result in a distribution defect of GARS in peripheral nerves in vivo. Furthermore, a distributional defect may be associated with axonal degradation in GARS-associated neuropathies.

  19. [Current Status of Genetic Diagnosis of Charcot-Marie-Tooth Disease: Variety of the Disease-causing Genes].

    PubMed

    Hashiguchi, Akihiro; Higuchi, Yujiro; Takashima, Hiroshi

    2016-01-01

    At least 40 genes have been associated with Charcot-Marie-Tooth disease (CMT) and the related inherited neuropathies. Genetic studies have revealed the following factors as causes of inherited neuropathies: myelin components, transcription factors for myelination, myelin maintenance systems, differentiation factors of the peripheral nerve, neurofilaments, protein transfer systems, mitochondrial proteins, DNA repair, RNA/protein synthesis, ion channels, and aminoacyl-tRNA synthetases. Since 2007, we have tried to screen for mutations in CMT patients using microarrays or next generation sequencers. As a result, the detection rate of gene mutations has improved to about 25%. In this study, we applied target resequencing to 72 genes. From the negative examples, we identified the cases based on clinical course, family history, and electrophysiological findings, and then performed exome analysis. We then tried to identify novel causative genes by analyzing the enormous data obtained from our exome analysis.

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

    PubMed Central

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

    2015-01-01

    We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis. PMID:25883816

  1. 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

  2. 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.

  3. 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).

  4. 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.

  5. A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.

    PubMed

    Shiga, Kensuke; Noto, Yuichi; Mizuta, Ikuko; Hashiguchi, Akihiro; Takashima, Hiroshi; Nakagawa, Masanori

    2012-06-01

    Mutations of the early growth response 2 (EGR2) gene have been reported in a variety of severe demyelinating neuropathies such as autosomal recessive congenital hypomyelinating neuropathy, autosomal dominant child-onset Dejerine-Sottas neuropathy, and autosomal dominant adult-onset Charcot-Marie-Tooth disease (CMT). Here, we report on a heterozygous mutation in EGR2 (c.1160C>A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult-onset CMT. Of note, both the proband and her asymptomatic son exhibited neither pes cavus nor champagne-bottle leg atrophy, suggesting that the heterozygous T387N mutation may result in a relatively mild phenotype of demyelinating CMT. PMID:22734907

  6. Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Cottenie, Ellen; Menezes, Manoj P; Rossor, Alexander M; Morrow, Jasper M; Yousry, Tarek A; Dick, David J; Anderson, Janice R; Jaunmuktane, Zane; Brandner, Sebastian; Blake, Julian C; Houlden, Henry; Reilly, Mary M

    2013-05-01

    Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles. We describe a patient with a previous diagnosis of CMT1 who presented with a two year history of rapidly progressive weakness in a single limb, resembling an acquired inflammatory neuropathy. Nerve conduction studies showed an asymmetrical demyelinating neuropathy with conduction block and temporal dispersion. FIG4 sequencing identified a compound heterozygous I41T/K278YfsX5 genotype. CMT4J secondary to FIG4 mutations should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy, especially if there is a background history of a more slowly progressive neuropathy.

  7. Leaf-to-leaf distances and their moments in finite and infinite ordered m-ary tree graphs.

    PubMed

    Goldsborough, Andrew M; Rautu, S Alex; Römer, Rudolf A

    2015-04-01

    We study the leaf-to-leaf distances on one-dimensionally ordered, full and complete m-ary tree graphs using a recursive approach. In our formulation, unlike in traditional graph theory approaches, leaves are ordered along a line emulating a one-dimensional lattice. We find explicit analytical formulas for the sum of all paths for arbitrary leaf separation r as well as the average distances and the moments thereof. We show that the resulting explicit expressions can be recast in terms of Hurwitz-Lerch transcendants. Results for periodic trees are also given. For incomplete random binary trees, we provide first results by numerical techniques; we find a rapid drop of leaf-to-leaf distances for large r. PMID:25974464

  8. 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.

  9. Health-hazard evaluation report HETA-88-287-1942, Saint Mary-Corwin Hospital, Pueblo, Colorado

    SciTech Connect

    Gunter, B.; Daniels, W.

    1988-12-01

    In response to a request from Saint Mary-Corwin Hospital Pueblo, Colorado, an evaluation was made of possible hazardous working conditions. Concern centered around waste anesthetic gases and vapors in the main operating rooms, exposure to ethylene oxide (EtO) from a gas sterilizer, and exposure to solvents used in the laboratory. Personal breathing zone samples were analyzed for nitrous-oxide (N/sub 2/O), halogenated anesthetic agents, xylene (1330207), EtO, acetone, and benzene. The authors conclude that there were no exposures above the environmental criteria during the survey. The authors recommend specific measures including control procedures, work practices, and work procedures that would reduce employee exposures in the operation rooms.

  10. 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

  11. 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.

  12. 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.

  13. [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

    PubMed

    Renouil, M; Stojkovic, T; Jacquemont, M L; Lauret, K; Boué, P; Fourmaintraux, A; Randrianaivo, H; Tallot, M; Mignard, D; Roelens, P; Tabailloux, D; Bernard, R; Cartault, F; Chane-Thien, E; Dubourg, O; Ferrer, X; Sole, G; Fournier, E; Latour, P; Lacour, A; Mignard, C

    2013-01-01

    Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families.

  14. 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

  15. End Results What Happens Next?: Effect of plasticine on falling rods Insights and Conundrums: de Broglie's wavelength has many applications in the study of gases Signing Off: The life and work of Marie Curie

    NASA Astrophysics Data System (ADS)

    2011-07-01

    What Happens Next?: Effect of plasticine on falling rods David Featonby Insights and Conundrums: de Broglie's wavelength has many applications in the study of gases Rick Marshall Signing Off: The life and work of Marie Curie David Smith

  16. 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.

  17. 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.

  18. 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

  19. Introduction to the EC's Marie Curie Initial Training Network Project: The European Training Network in Digital Medical Imaging for Radiotherapy (ENTERVISION).

    PubMed

    Dosanjh, Manjit; Cirilli, Manuela; Navin, Sparsh

    2015-01-01

    Between 2011 and 2015, the ENTERVISION Marie Curie Initial Training Network has been training 15 young researchers from a variety of backgrounds on topics ranging from in-beam Positron Emission Tomography or Single Particle Tomography techniques, to adaptive treatment planning, optical imaging, Monte Carlo simulations and biological phantom design. This article covers the main research activities, as well as the training scheme implemented by the participating institutes, which included academia, research, and industry. PMID:26697403

  20. Introduction to the EC's Marie Curie Initial Training Network Project: The European Training Network in Digital Medical Imaging for Radiotherapy (ENTERVISION).

    PubMed

    Dosanjh, Manjit; Cirilli, Manuela; Navin, Sparsh

    2015-01-01

    Between 2011 and 2015, the ENTERVISION Marie Curie Initial Training Network has been training 15 young researchers from a variety of backgrounds on topics ranging from in-beam Positron Emission Tomography or Single Particle Tomography techniques, to adaptive treatment planning, optical imaging, Monte Carlo simulations and biological phantom design. This article covers the main research activities, as well as the training scheme implemented by the participating institutes, which included academia, research, and industry.

  1. 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.

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

    PubMed

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

    2014-03-01

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

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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

  8. 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

  9. Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

    PubMed

    Mathis, Stéphane; Funalot, Benoît; Boyer, Olivia; Lacroix, Catherine; Marcorelles, Pascale; Magy, Laurent; Richard, Laurence; Antignac, Corinne; Vallat, Jean-Michel

    2014-03-01

    The association of Charcot-Marie-Tooth (CMT) disease with renal dysfunction is uncommon but has long been recognized in several families. Recently, mutations in the INF2 gene, which encodes inverted formin-2, were identified in patients with focal segmental glomerulosclerosis and a dominant intermediate form of CMT (CMTDIE, OMIM #614455). We describe the pathologic lesions of nerve biopsies from 6 patients with INF2-related CMTDIE. There were 4 females and 2 males; ages were from 12 to 47 years; durations between neuropathy onset and biopsy were from 2 to 37 years. Clinical phenotypes were similar to those seen in other forms of CMT disease, but there was always an associated proteinuria (and later renal failure). Motor median nerve conduction velocities were in the range of intermediate CMT disease. Pathologic lesions suggested chronic demyelination and remyelination associated with progressive axonal loss. By electron microscopy, we observed unusual whorl-like proliferations of flattened Schwann cell cytoplasm and anomalies of unmyelinating Schwann cell cytoplasm with supernumerary elongated extensions similar to those described in CMT4C. We also observed abnormal accumulation of β-actin in the cytoplasm of Schwann cells. Our results suggest that these lesions reflect a global disorder of the actin cytoskeleton in Schwann cells and that CMTDIE is the first peripheral nerve disorder associated with a Schwann cell actinopathy. PMID:24487800

  10. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

    PubMed Central

    Brennan, Kathryn M.; Bai, Yunhong; Pisciotta, Chiara; Wang, Suola; Feely, Shawna M.E.; Hoegger, Mark; Gutmann, Laurie; Moore, Steven A.; Gonzalez, Michael; Sherman, Diane L.; Brophy, Peter J.; Züchner, Stephan; Shy, Michael E.

    2016-01-01

    Using exome sequencing in an individual with Charcot-Marie-Tooth disease (CMT) we have identified a mutation in the X-linked dystrophin-related protein 2 (DRP2) gene. A 60-year-old gentleman presented to our clinic and underwent clinical, electrophysiological and skin biopsy studies. The patient had clinical features of a length dependent sensorimotor neuropathy with an age of onset of 50 years. Neurophysiology revealed prolonged latencies with intermediate conduction velocities but no conduction block or temporal dispersion. A panel of 23 disease causing genes was sequenced and ultimately was uninformative. Whole exome sequencing revealed a stop mutation in DRP2, c.805C>T (Q269*). DRP2 interacts with periaxin and dystroglycan to form the periaxin-DRP2-dystroglycan complex which plays a role in the maintenance of the well-characterized Cajal bands of myelinating Schwann cells. Skin biopsies from our patient revealed a lack of DRP2 in myelinated dermal nerves by immunofluorescence. Furthermore electron microscopy failed to identify Cajal bands in the patient's dermal myelinated axons in keeping with ultrastructural pathology seen in the Drp2 knockout mouse. Both the electrophysiologic and dermal nerve twig pathology support the interpretation that this patient's DRP2 mutation causes characteristic morphological abnormalities recapitulating the Drp2 knockout model and potentially represents a novel genetic cause of CMT. PMID:26227883

  11. Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication

    PubMed Central

    Kim, Young Hwa; Chung, Hwa Kyung; Park, Kee Duk; Choi, Kyoung-Gyu; Kim, Seung-Min; Sunwoo, Il-Nam; Choi, Young-Chul; Lim, Jeong-Geun; Lee, Kwang Woo; Kim, Kwang-Kuk; Lee, Dong Kuk; Joo, In Soo; Kwon, Ki-Han; Gwon, Seok Beom; Park, Jae Hyeon; Kim, Dae-Seong; Kim, Seung Hyun; Kim, Woo-Kyung; Suh, Bum Chun; Kim, Sang-Beom; Kim, Nam-Hee; Sohn, Eun Hee; Kim, Ok-Joon; Kim, Hyun Sook; Cho, Jung Hee; Kang, Sa-Yoon; Park, Chan-Ik; Oh, Jiyoung; Shin, Jong Hyu; Chung, Ki Wha

    2012-01-01

    Background and Purpose Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. Methods We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. Results Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. Conclusions In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction. PMID:22787498

  12. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

    PubMed

    Menezes, Manoj P; Waddell, Leigh; Lenk, Guy M; Kaur, Simranpreet; MacArthur, Daniel G; Meisler, Miriam H; Clarke, Nigel F

    2014-08-01

    Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous and classification based on motor nerve conduction velocity and inheritance is used to direct genetic testing. With the less common genetic forms of CMT, identifying the causative genetic mutation by Sanger sequencing of individual genes can be time-consuming and costly. Next-generation sequencing technologies show promise for clinical testing in diseases where a similar phenotype is caused by different genes. We report the unusual occurrence of CMT4J, caused by mutations in FIG4, in a apparently dominant pedigree. The affected proband and her mother exhibit different disease severities associated with different combinations of compound heterozygous FIG4 mutations, identified by whole exome sequencing. The proband was also shown to carry a de novo nonsense mutation in the dystrophin gene, which may contribute to her more severe phenotype. This study is a cautionary reminder that in families with two generations affected, explanations other than dominant inheritance are possible, such as recessive inheritance due to three mutations segregating in the family. It also emphasises the advantages of next-generation sequencing approaches that screen multiple CMT genes at once for patients in whom the common genes have been excluded.

  13. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

    PubMed

    Choi, B-O; Nakhro, K; Park, H J; Hyun, Y S; Lee, J H; Kanwal, S; Jung, S-C; Chung, K W

    2015-06-01

    Charcot-Marie-Tooth disease 2A (CMT2A) is the most common axonal form of peripheral neuropathy caused by a defect in the mitofusin 2 (MFN2) gene, which encodes an outer mitochondrial membrane GTPase. MFN2 mutations result in a large range of phenotypes. This study analyzed the prevalence of MFN2 mutation in Korean families with their assorted phenotypes (607 CMT families and 160 CMT2 families). Direct sequencing of the MFN2 coding exons or whole-exome sequencing has been applied to identify causative mutations. A total of 21 mutations were found in 36 CMT2 families. Comparative genotype-phenotype correlations impacting severity, onset age, and specific symptoms were assessed. Most mutations were seen in the GTPase domain (∼86%). A deletion mutation found in the transmembrane helices is reported for the first time, as well as five novel mutations at other domains. MFN2 mutations made up 5.9% of total CMT families, whereas 22.9% in CMT2 families, of which 27.8% occurred de novo. Interestingly, patient phenotypes ranged from mild to severe even for the same mutation, suggesting other factors influenced phenotype and penetrance. This CMT2A cohort study will be useful for molecular diagnosis and treatment of axonal neuropathy.

  14. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

    PubMed

    Brennan, Kathryn M; Bai, Yunhong; Pisciotta, Chiara; Wang, Suola; Feely, Shawna M E; Hoegger, Mark; Gutmann, Laurie; Moore, Steven A; Gonzalez, Michael; Sherman, Diane L; Brophy, Peter J; Züchner, Stephan; Shy, Michael E

    2015-10-01

    Using exome sequencing in an individual with Charcot-Marie-Tooth disease (CMT) we have identified a mutation in the X-linked dystrophin-related protein 2 (DRP2) gene. A 60-year-old gentleman presented to our clinic and underwent clinical, electrophysiological and skin biopsy studies. The patient had clinical features of a length dependent sensorimotor neuropathy with an age of onset of 50 years. Neurophysiology revealed prolonged latencies with intermediate conduction velocities but no conduction block or temporal dispersion. A panel of 23 disease causing genes was sequenced and ultimately was uninformative. Whole exome sequencing revealed a stop mutation in DRP2, c.805C>T (Q269*). DRP2 interacts with periaxin and dystroglycan to form the periaxin-DRP2-dystroglycan complex which plays a role in the maintenance of the well-characterized Cajal bands of myelinating Schwann cells. Skin biopsies from our patient revealed a lack of DRP2 in myelinated dermal nerves by immunofluorescence. Furthermore electron microscopy failed to identify Cajal bands in the patient's dermal myelinated axons in keeping with ultrastructural pathology seen in the Drp2 knockout mouse. Both the electrophysiologic and dermal nerve twig pathology support the interpretation that this patient's DRP2 mutation causes characteristic morphological abnormalities recapitulating the Drp2 knockout model and potentially represents a novel genetic cause of CMT.

  15. 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.

  16. 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.

  17. 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.

  18. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.

    PubMed

    Hyun, Young Se; Lee, Jinho; Kim, Hye Jin; Hong, Young Bin; Koo, Heasoo; Smith, Alec S T; Kim, Deok-Ho; Choi, Byung-Ok; Chung, Ki Wha

    2015-11-01

    Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating subtype of peripheral enuropathies caused by mutations in the FGD4 gene. Most CMT4H patients are in consanguineous Mediterranean families characterized by early onset and slow progression. We identified two CMT4H patients from a Korean CMT cohort, and performed a detailed genetic and clinical analysis in both cases. Both patients from nonconsanguineous families showed characteristic clinical manifestations of CMT4H including early onset, scoliosis, areflexia, and slow disease progression. Exome sequencing revealed novel compound heterozygous mutations in FGD4 as the underlying cause in both families (p.Arg468Gln and c.1512-2A>C in FC73, p.Met345Thr and c.2043+1G>A (p.Trp663Trpfs*30) in FC646). The missense mutations were located in highly conserved RhoGEF and PH domains which were predicted to be pathogenic in nature by in silico modeling. The CMT4H occurrence frequency was calculated to 0.7% in the Korean demyelinating CMT patients. This study is the first report of CMT4H in Korea. FGD4 assay could be considered as a means of molecular diagnosis for sporadic cases of demyelinating CMT with slow progression.

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

    PubMed

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

    2016-05-01

    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.

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

    PubMed

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

    2014-01-22

    Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders affecting the peripheral nervous system. CMT is characterized by a clinically and genetically heterogeneous group of neuropathies, involving all types of Mendelian inheritance patterns. Over 1,000 different mutations have been discovered in 80 disease-associated genes. Genetic research of CMT has pioneered the discovery of genomic disorders and aided in understanding the effects of copy number variation and the mechanisms of genomic rearrangements. CMT genetic study also unraveled common pathomechanisms for peripheral nerve degeneration, elucidated gene networks, and initiated the development of therapeutic approaches. The reference genome, which became available thanks to the Human Genome Project, and the development of next generation sequencing tools, considerably accelerated gene and mutation discoveries. In fact, the first clinical whole genome sequence was reported in a patient with CMT. Here we review the history of CMT gene discoveries, starting with technologies from the early days in human genetics through the high-throughput application of modern DNA analyses. We highlight the most relevant examples of CMT genes and mutation mechanisms, some of which provide promising treatment strategies. Finally, we propose future initiatives to accelerate diagnosis of CMT patients through new ways of sharing large datasets and genetic variants, and at ever diminishing costs.

  1. 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

  2. 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

  3. 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

  4. 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.

  5. 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.

  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. Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis

    PubMed Central

    Liu, Zhi-Jun; Ni, Wang; Li, Hong-Fu; Xiao, Bao-Guo; Wu, Zhi-Ying

    2016-01-01

    Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype-phenotype correlations in many CMT patients make it difficult to decide which genes are affected. Recently, targeted next-generation sequencing (NGS) has been introduced as an alternative approach for diagnosis of genetic disorders. Here, we applied targeted NGS in combination with PMP22 duplication/deletion analysis to screen causative genes in 22 Chinese CMT families. The novel variants detected by targeted NGS were then further studied in cultured cells. Of the 22 unrelated patients, 8 had PMP22 duplication. The targeted NGS revealed 10 possible pathogenic variants in 11 patients, including 7 previously reported variants and 3 novel heterozygous variants (GJB1: p.Y157H; MFN2: p.G127S; YARS: p.V293M). Further classification of the novel variants according to American College of Medical Genetics and Genomics (ACMG) standards and guidelines and functional analysis in cultured cells indicated that p.Y157H in GJB1 was pathogenic, p.G127S in MFN2 was likely pathogenic, while p.V293M in YARS was likely benign. Our results suggest the potential for targeted NGS to make a more rapid and precise diagnosis in CMT patients. Moreover, the functional analysis is required when the novel variants are indistinct. PMID:27027447

  8. 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

  9. Probing the human brain with stimulating electrodes: the story of Roberts Bartholow's (1874) experiment on Mary Rafferty.

    PubMed

    Harris, Lauren Julius; Almerigi, Jason B

    2009-06-01

    Roberts Bartholow's 1874 experiment on Mary Rafferty is widely cited as the first demonstration, by direct application of stimulating electrodes, of the motor excitability of the human cerebral cortex. The many accounts of the experiment, however, leave certain questions and details unexamined or unresolved, especially about Bartholow's goals, the nature and quality of the evidence, and the experiment's role in the history of theory and research on localisation of function. In this article, we try to fill these gaps and to tell the full story. We describe Bartholow's career up to 1874, review the theoretical and empirical background for the experiment, and present Bartholow's own account of the experiment as well as those of his supporters and critics. We then present our own analysis, assess the experiment's influence on contemporaneous scientific opinion about cortical excitability, and trace its citation record into our own time. We also review and assess ethical criticisms of Bartholow and their effects on his career, and we close by discussing the role we think the experiment deserves to play in the history of theory and research on cortical excitability.

  10. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

    PubMed

    Al-Thihli, Khalid; Rudkin, Teresa; Carson, Nancy; Poulin, Chantal; Melançon, Serge; Der Kaloustian, Vazken M

    2008-09-15

    Dejerine-Sottas disease (DSD) is a particular phenotype of the Charcot-Marie-Tooth (CMT) disease spectrum that is genetically heterogeneous. It represents a severe form of hypertrophic axonal and demyelinating neuropathy. Although it is predominantly inherited as an autosomal recessive condition, autosomal dominant inheritance has also been described. To date, the autosomal recessive forms of DSD are classified into several CMT type 4 (CMT4) subclasses based on allelic heterogeneity. We present a 7-year-old boy with a severe form of CMT disease consistent with the autosomal recessive phenotype of DSD. He was found to be a compound heterozygote for mutations in the PMP22 gene resulting in homozygous deletion of exons 2 and 3. The maternally inherited allele was the typical 1.5 Mb deletion involving PMP22 seen with hereditary neuropathy with liability to pressure palsy (HNPP). The paternally inherited allele was a deletion of exons 2 and 3. Both parents presented with a typical clinical picture of HNPP. To our knowledge, this is the first patient reported with large deletions involving both PMP22 alleles. Our patient has also developed severe gastroesophageal reflux disease (GERD), a clinical feature not previously reported with CMT or DSD. The correlation of the phenotype and the molecular defects observed in this patient may set a new subcategory in the classification of DSD. PMID:18698610

  11. Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

    PubMed

    Numakura, Chikahiko; Shirahata, Emi; Yamashita, Sumimasa; Kanai, Masayo; Kijima, Kazuki; Matsuki, Takasumi; Hayasaka, Kiyoshi

    2003-06-15

    Charcot-Marie-Tooth disease type 1 (CMT1) is a heterogeneous disorder. Most CMT1 patients are associated with a duplication of 17p11.2-p12 (CMT1A duplication), but a small number of patients have mutations of peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), connexin 32 (Cx32) and early growth response 2 (EGR2) genes. In our previous study, we identified the responsible mutations in 72 of 128 Japanese CMT1 patients as CMT1A duplication in 40, PMP22 mutation in 6, MPZ mutation in 12 and Cx32 mutation in 14 patients. A total of 56 Japanese CMT1 patients with no identified mutations were screened for EGR2 mutation by denaturing gradient gel electrophoresis (DGGE). We detected a heterozygous Asp383Tyr mutation of EGR2 in one patient with severe CMT1, Dejerine-Sottas syndrome. EGR2 mutation is rare cause of CMT1 in Japan as in other nations. We were unable to identify the responsible mutation in 55 of 128 CMT1 patients and need further analysis to identify their candidate genes. PMID:12736090

  12. 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

  13. [Louis-Marie Rousseau and the "Chocolat rationnel des pharmaciens français" (Rational Chocolate of French pharmacists)].

    PubMed

    Raynal, Cécile

    2015-03-01

    In 1883, the chemist Louis-Marie Rousseau (1849-1930) creats the "Compagnie hygiénique française" (French Hygienic Company). The company manufactures and sells the "Poudre de viande Rousseau" (Rousseau meat powder) and the "Chocolat Rousseau" (Rousseau Chocolate) by methods developed and patented by the pharmacist. Ten years after a successful collaboration, L.-M. Rousseau separates from his associates and founds the "Chocolaterie spéciale d'Ermont" (Special Chocolate factory of Ermont) in the village of Ermont near Paris. Here is manufactured the "Chocolat Rationnel des pharmaciens français" (Rational Chocolate of French pharmacists), hygienic chocolate sold only in pharmacies. The factory is also a pharmaceutical laboratory where is extracted theobromine from waste vegetable substances of cocoa. It then produces the "Théobromine Rousseau cristallisée" (crystallized Rousseau's Theobromine) sold as tablets, then the "Théosol" that will be commercialized until the middle of 1930s.

  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. 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.

  16. 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

  17. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

    PubMed Central

    2013-01-01

    Background Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT). Methods To identify the causative mutation in an autosomal recessive intermediate CMT (RI-CMT) family with childhood onset, whole exome sequencing (WES), histopathology, and lower leg MRIs were performed. Expression and activity of each mutant protein were analyzed. Results We identified novel compound heterozygous (p.Thr663Met and p.Gly820Arg) mutations in the PLEKHG5 gene in the present family. The patient revealed clinical manifestations of sensory neuropathy. Fatty replacements in the distal lower leg muscles were more severe than in the thigh muscles. Although the symptoms and signs of this patient harboring slow nerve conduction velocities suggested the possibility of demyelinating neuropathy, a distal sural nerve biopsy was compatible with axonal neuropathy. Immunohistochemical analysis revealed that the patient has a low level of PLEKHG5 in the distal sural nerve and an in vitro assay suggested that the mutant proteins have a defect in activating the NF-κB signaling pathway. Conclusions This study identifies compound heterozygous PLEKHG5 mutations as the cause of RI-CMT. We suggest that PLEKHG5 might play a role in the peripheral motor and sensory nervous system. This study expands the phenotypic spectrum of PLEKHG5 mutations. PMID:23844677

  18. 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.

  19. Louis Nico Marie Duysens (March 15, 1921-September 8, 2015): a leading biophysicist of the 20th century.

    PubMed

    Govindjee; Pulles, M P J

    2016-06-01

    Louis Nico Marie (L. N. M.) Duijsens (Duysens) was one of the giants in the biophysics of photosynthesis. His PhD thesis "Transfer of Excitation Energy in Photosynthesis" (Duysens, 1952) is a classic; he introduced light-induced absorption difference spectroscopy to photosynthesis research and proved the existence of reaction centers, introducing advanced methods from physics to understand biological processes. Further, it is his 1959-1961 seminal work, with Jan Amesz, that provided evidence for the existence of the series scheme for the two light reactions in oxygenic photosynthesis. In one word, he was one of the master biophysicists of the 20th century-who provided direct measurements on many key intermediates, and made us understand the intricacies of photosynthesis with a simplicity that no one else ever did. We present here our personal perspective of the scientist that Lou Duysens was. For an earlier perspective, see van Grondelle and van Gorkom (Photosynth Res 120: 3-7, 2014). PMID:27039907

  20. Introduction to the EC's Marie Curie Initial Training Network (MC-ITN) project: Particle Training Network for European Radiotherapy (PARTNER).

    PubMed

    Dosanjh, Manjit; Magrin, Giulio

    2013-07-01

    PARTNER (Particle Training Network for European Radiotherapy) is a project funded by the European Commission's Marie Curie-ITN funding scheme through the ENLIGHT Platform for 5.6 million Euro. PARTNER has brought together academic institutes, research centres and leading European companies, focusing in particular on a specialized radiotherapy (RT) called hadron therapy (HT), interchangeably referred to as particle therapy (PT). The ultimate goal of HT is to deliver more effective treatment to cancer patients leading to major improvement in the health of citizens. In Europe, several hundred million Euro have been invested, since the beginning of this century, in PT. In this decade, the use of HT is rapidly growing across Europe, and there is an urgent need for qualified researchers from a range of disciplines to work on its translational research. In response to this need, the European community of HT, and in particular 10 leading academic institutes, research centres, companies and small and medium-sized enterprises, joined together to form the PARTNER consortium. All partners have international reputations in the diverse but complementary fields associated with PT: clinical, radiobiological and technological. Thus the network incorporates a unique set of competencies, expertise, infrastructures and training possibilities. This paper describes the status and needs of PT research in Europe, the importance of and challenges associated with the creation of a training network, the objectives, the initial results, and the expected long-term benefits of the PARTNER initiative.