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  1. Peter Becker and his Nazi past: the man behind Becker muscular dystrophy and Becker myotonia.

    Science.gov (United States)

    Zeidman, Lawrence A; Kondziella, Daniel

    2014-04-01

    Peter Becker was a German neurologist who helped classify the muscular dystrophies, and described Becker muscular dystrophy and Becker myotonia. His involvement in National Socialism began in 1933, when he was compelled by his peers to join the SA (brown shirts). He later joined the Nazi party, the Nazi Doctors Association, and the Nazi Lecturers' Association. He renewed his SA membership to maintain his position at a genetics institute. Colleagues stated postwar that he was not an active Nazi, and he was de-Nazified in 1947, able to continue his career. Later, Becker admitted to most, but not all, of his Nazi memberships in his autobiography, and wrote 2 books exploring the origins of Nazism and racial hygiene. The "neurologic court of opinion" must weigh in on how we should best remember Becker, and at the very least, we as neurologists must learn the dangers of career opportunism at any cost.

  2. Genetics Home Reference: Duchenne and Becker muscular dystrophy

    Science.gov (United States)

    ... Conditions Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Printable PDF Open All Close All Enable Javascript ... dystrophy occur almost exclusively in males. Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused ...

  3. Becker muscular dystrophy: an unusual presentation.

    OpenAIRE

    Thakker, P B; Sharma, A

    1993-01-01

    A 15 year old boy who presented with passing painless dark urine was found to have myoglobinuria. His creatine phosphokinase was raised, and a muscle biopsy specimen showed non-specific dystrophic changes. Subsequent DNA analysis led to the diagnosis of Becker muscular dystrophy. Myoglobinuria may be a presenting symptom of Becker muscular dystrophy.

  4. Peter Becker and his Nazi past

    DEFF Research Database (Denmark)

    Zeidman, Lawrence A; Kondziella, Daniel

    2014-01-01

    Peter Becker was a German neurologist who helped classify the muscular dystrophies, and described Becker muscular dystrophy and Becker myotonia. His involvement in National Socialism began in 1933, when he was compelled by his peers to join the SA (brown shirts). He later joined the Nazi party......, the Nazi Doctors Association, and the Nazi Lecturers' Association. He renewed his SA membership to maintain his position at a genetics institute. Colleagues stated postwar that he was not an active Nazi, and he was de-Nazified in 1947, able to continue his career. Later, Becker admitted to most......, but not all, of his Nazi memberships in his autobiography, and wrote 2 books exploring the origins of Nazism and racial hygiene. The "neurologic court of opinion" must weigh in on how we should best remember Becker, and at the very least, we as neurologists must learn the dangers of career opportunism at any...

  5. Congenital Becker's nevus with a familial association.

    Science.gov (United States)

    Book, S E; Glass, A T; Laude, T A

    1997-01-01

    Becker's nevus is a unilateral, hyperpigmented cutaneous hamartoma usually with hypertrichosis. It occurs predominantly in boys, becoming apparent during adolescence, although several cases of congenital Becker's nevus have been reported. Rarely it may be familial and as such is transmitted in an autosomal dominant pattern. We report a 16-month-old black boy with a hyperpigmented patch on his right shoulder and upper pectoral area that extended down his arm. The patient's father has a similar lesion with hair on his left shoulder which has been present since childhood. Histology of the child's lesion was consistent with Becker's nevus. We believe this to be the first reported case of a congenital Becker's nevus with a familial association.

  6. Síndrome do nevo de Becker: relato de caso Becker's nevus syndrome: case report

    Directory of Open Access Journals (Sweden)

    Isabela Guimarães Ribeiro Baeta

    2010-10-01

    Full Text Available O nevo de Becker se manifesta como uma mácula hipercrômica, localizada predominantemente no tronco anterior ou região escapular, e frequentemente associada à hipertricose. A coexistência do nevo de Becker e anormalidades cutâneas, músculo-esqueléticas ou maxilo-faciais corresponde à síndrome do nevo de Becker. Relata-se o caso de uma paciente de 16 anos, portadora desde os sete anos de mácula hipercrômica, localizada no tronco ântero-lateral direito, estendendo-se até a face medial da coxa direita, acompanhada de hipoplasia mamária ipsilateral. O exame anatomopatológico confirmou a hipótese clínica de nevo de Becker.Becker's nevus is a hyperpigmented macula that is predominantly located on the anterior trunk or on the scapular region, frequently associated with hypertrichosis. The association of Becker's nevus with other cutaneous, musculoskeletal or maxillofacial anomalies has been called Becker's nevus syndrome. We report a case of a 16-year-old girl with a hyperpigmented macula which spread from her right anterolateral trunk to the inner part of her right thigh accompanied by ipsilateral mammary hypoplasia. The skin lesion started when the patient was seven years old when it was also noticed ipsilateral mammary hypoplasia. The histological exam confirmed the clinical hypothesis of Becker's nevus.

  7. Cardiomyopathy in becker muscular dystrophy: Overview.

    Science.gov (United States)

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-06-26

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  8. Rafał Becker: psychiatrist, eugenist, Zionist.

    Science.gov (United States)

    Marcinowski, Filip; Nasierowski, Tadeusz

    2016-01-01

    In the interwar period the eugenic ideas gained the status of a scientific theory and become attractive to a wide range of physicians. Among them were doctors of Jewish origin who perceived eugenics as a tool in the fight for biological rebirth of the Jewish nation. Polish-Jewish psychiatrist Raphael Becker (1891-1939?), the author of dozens of scientific papers, was the most famous eugenist among Jewish psychiatrists, not only in Poland but also in Europe. After graduation in medicine at the University in Zurich and training in the psychiatry clinic Burghölzli under the guidance of Eugen Bleuler, Rafał Becker became interested in the question of epidemiology of mental disorders among the Jews. In the interwar period, dealing with the statistics of mental disorders among Polish Jews, and directing a psychiatric hospital "Zofiówka" in Otwock, he significantly contributed to the development of medical care for the mentally ill Jews in Poland. Becker's scientific ideas were greatly influenced by the work of Alfred Adler and Ernst Kretschmer. The article presents the life and scientific achievements of Becker, with particular emphasis on his views on eugenics.

  9. Becker and Lomnitz rheological models: A comparison

    Science.gov (United States)

    Mainardi, Francesco; Spada, Giorgio

    2012-07-01

    The viscoelastic material functions for the Becker and the Lomnitz rheological models, sometimes employed to describe the transient flow of rocks, are studied and compared. Their creep functions, which are known in a closed form, share a similar time dependence and asymptotic behavior. This is also found for the relaxation functions, obtained by solving numerically a Volterra equation of the second kind. We show that the two rheologies constitute a clear example of broadly similar creep and relaxation patterns associated with neatly distinct retardation spectra, for which analytical expressions are available.

  10. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, Edo M.; Ginjaar, Ieke B.; Bakker, Egbert; de Visser, Marianne

    2005-01-01

    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in

  11. Soul / Randy Becker, Bill Evans, Evelin Samuel ; interv. Sven Sapelson

    Index Scriptorium Estoniae

    Becker, Randy

    2007-01-01

    The Soulbop Bandi rajajad Randy Becker ja Bill Evans ning meie Evelin Samuel gospeli ja rhytmblues'i juurtega soulist. Lk. 72-73 Inessa Josingu ja Ande Kaalepi souliteemaline fotolavastusega ruumikujundus

  12. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Wein, Nicolas; Alfano, Lindsay; Flanigan, Kevin M

    2015-06-01

    Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. 40 years Becker Mining Systems - from small business to internationally successful mining supplier; 40 Jahre Becker Mining Systems - vom Kleinbetrieb zum international erfolgreichen Bergwerksausruester

    Energy Technology Data Exchange (ETDEWEB)

    Anon.

    2004-11-01

    Becker Mining Systems was founded in 1964 by Walter Becker, a mining engineer at Maybach coal mine in Friedrichsthal. On the 40th birthday party his son, Dr Franz Becker, reviewed the company history. Other felicitators were Dr. Georgi, Minister for Economic Affairs in Saarland, Dr. Walter-Borjahns, State Secretary in the Ministry of Economic Affairs and Labor in North Rhine-Westphalia, and Dr. Eikhoff, member of board of directors of DSK. (uke)

  14. Construct Validity of Measures of Becker's Side Bet Theory.

    Science.gov (United States)

    Shore, Lynn M.; Tetrick, Lois E.; Shore, Ted H.; Barksdale, Kevin

    2000-01-01

    Becker's side bet theory (remaining in a job because of perceived costs of leaving) was tested using data from 327 working business students. Three factors were most consistent with the theory: bureaucratic organization, nonwork-related concerns, and adjustment to social position. Attachment to the organization was significantly linked to tangible…

  15. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, EM; van der Wouw, PA; Wilde, AAM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; van Essen, AJ; Leschot, NJ; de Visser, Marianne

    A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives: (1) to estimate the frequency of electrocardiographic (ECG) and echocardiographic abnormalities; (2) to establish the proportion of carriers

  16. Histopathological findings in Becker-type muscular dystrophy

    NARCIS (Netherlands)

    ten Houten, R.; de Visser, M.

    1984-01-01

    Muscle biopsy specimens from 14 patients with Becker-type muscular dystrophy were analyzed to investigate possible neurogenic factors underlying the histopathological changes. Group atrophy, pyknotic nuclear clumps, and angular small fibers were seen respectively in 71%, 85%, and 100% of the cases.

  17. Gary Becker and the economics of trafficking in human beings

    NARCIS (Netherlands)

    de Hert, Paul; Muraszkiewic, Julia

    2014-01-01

    Gary Becker died on 3 May 2014. He was an economist, Noble prize winner and author. He was declared by Milton Friedman as the “the greatest social scientist who has lived and worked in the last half century”. His work focused on economics and sociology, and through the lenses of these disciplines he

  18. [Late Becker's nevus. One hundred cases (author's transl)].

    Science.gov (United States)

    Tymen, R; Forestier, J F; Boutet, B; Colomb, D

    1981-01-01

    The authors make a survey of a series of a hundred Becker's nevi diagnosed in a recruiting center of the French National Service. It is a statistic study bearing on the male population, aged 17 to 26, in a French region which is supposed to be representative of the French male population of the same age. First of all the authors focus on the various clinical descriptions since this nevus was first described by Becker in 1949, then discuss the problems raised by pathogenic interpretation and the results of microscopic studies. About this lesion, usually said to be pigmentary and hairy, and generally appearing before 20 years of age, is still very little known. Then after a short explanation of their method of study the authors give original results. A hundred Becker's nevi were diagnosed among 19,302 young men, that is to say in a proportion of 0.52 p. 100. A study of the racial, genetic and pigmentary background doesn't enable to retain general causes but rather leads to think of local causes. Half of these Becker's nevi appeared before ten years of age, the other half appearing between 10 and 20. In only one quarter of the cases can the role of the sun be pointed out. The location of the nevi is variable; they are mainly situated on the trunk and only 32 p. 100 of them are located above nipples, which was believed to be the usual place of the lesion. Pigmentation in three quarter of the cases is light brown. The average surface is 125 cm2. Hairs can be seen in only a little more than half of the cases of no lesion associated to the nevus could be found. The study points out that Becker's nevi seem to be more various in their clinical expression and more pigment than could be thought through more classical description.

  19. [Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy].

    Science.gov (United States)

    Silva, Helga Cristina Almeida da; Hiray, Marcia; Vainzof, Mariz; Schmidt, Beny; Oliveira, Acary Souza Bulle; Amaral, José Luiz Gomes do

    2017-05-31

    Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L -1 (normal 174IU.L -1 ). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  20. Prevalence of cardiomyopathy in duchenne and becker's muscular dystrophy

    International Nuclear Information System (INIS)

    Sultan, A.; Fayaz, M.

    2008-01-01

    Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy. Methods: It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments. The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram. Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years. (author)

  1. Resistance training in patients with limb-girdle and becker muscular dystrophies

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Andersen, Søren P; Ingelsrud, Lina H

    2013-01-01

    In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD).......In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD)....

  2. Functional muscle ischemia in Duchenne and Becker muscular dystrophy

    OpenAIRE

    Thomas, Gail D.

    2013-01-01

    Duchenne and Becker muscular dystrophy (DMD/BMD) comprise a spectrum of devastating X-linked muscle wasting disease for which there is no treatment. DMD/BMD is caused by mutations in the gene encoding dystrophin, a cytoskeletal protein that stabilizes the muscle membrane and also targets other proteins to the sarcolemma. Among these is the muscle-specific isoform of neuronal nitric oxide synthase (nNOSµ) which binds spectrin-like repeats within dystrophin’s rod domain and the adaptor pro...

  3. Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

    Science.gov (United States)

    Latimer, Rebecca; Street, Natalie; Conway, Kristin Caspers; James, Kathy; Cunniff, Christopher; Oleszek, Joyce; Fox, Deborah; Ciafaloni, Emma; Westfield, Christina; Paramsothy, Pangaja

    2017-06-01

    Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38.4%), constipation (31.7%), anxiety (29.3%), depression (27.4%), and obesity (19.5%). Higher frequencies of anxiety, depression, and kidney stones were found among nonambulatory males compared to ambulatory males. Attention-deficit hyperactivity disorder (ADHD) was more common in ambulatory than nonambulatory males. These data support clinical care recommendations for monitoring of patients with Duchenne or Becker muscular dystrophy by a multidisciplinary team to prevent and treat conditions that may be secondary to the diagnosis.

  4. Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Melinda F. Davis

    2010-10-01

    Full Text Available Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy, respiratory equipment (assisted ventilation, cough assist devices, and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds. The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI: 10.2458/azu_jmmss.v1i1.76

  5. Duchenne and Becker muscular dystrophy in adolescents: current perspectives

    Directory of Open Access Journals (Sweden)

    Andrews JG

    2018-03-01

    Full Text Available Jennifer G Andrews, Richard A Wahl Department of Pediatrics, University of Arizona, Tucson, AZ, USA Abstract: Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives. Keywords: adolescent health, review, Duchenne muscular dystrophy, Becker muscular dystrophy, dystrophinopathy, palliative care

  6. Magnetic resonance imaging phenotyping of Becker muscular dystrophy.

    Science.gov (United States)

    Faridian-Aragh, Neda; Wagner, Kathryn R; Leung, Doris G; Carrino, John A

    2014-12-01

    There is little information on magnetic resonance imaging (MRI) phenotypes of Becker muscular dystrophy (BMD). This study presents the MRI phenotyping of the upper and lower extremities of a large cohort of BMD patients. In this retrospective study, MRI images of 33 BMD subjects were evaluated for severity, distribution, and symmetry of involvement. Teres major, triceps long head, biceps brachii long head, gluteus maximus, gluteus medius, vasti, adductor longus, adductor magnus, semitendinosus, semimembranosus, and biceps femoris muscles showed the highest severity and frequency of involvement. All analyzed muscles had a high frequency of symmetric involvement. There was significant variability of involvement between muscles within some muscle groups, most notably the arm abductors, posterior arm muscles, medial thigh muscles, and lateral hip rotators. This study showed a distinctive pattern of involvement of extremity muscles in BMD subjects. © 2014 Wiley Periodicals, Inc.

  7. Muscular dystrophy in a dog resembling human becker muscular dystrophy.

    Science.gov (United States)

    Baroncelli, A B; Abellonio, F; Pagano, T B; Esposito, I; Peirone, B; Papparella, S; Paciello, O

    2014-05-01

    A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked variability in myofibre size, replacement of muscle with mature adipose tissue and degeneration/regeneration of muscle fibres, consistent with muscular dystrophy. Immunohistochemical examination for dystrophin showed markedly reduced labelling with monoclonal antibodies specific for the rod domain and the carboxy-terminal of dystrophin, while expression of β-sarcoglycan, γ-sarcoglycan and β-dystroglycan was normal. Immunoblotting revealed a truncated dystrophin protein of approximately 135 kDa. These findings supported a diagnosis of congenital canine muscular dystrophy resembling Becker muscular dystrophy in man. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Lydia Becker's "School for Science": a challenge to domesticity.

    Science.gov (United States)

    Parker, J E

    2001-01-01

    Lydia Becker (1827-1890) is known as a leader of the Women's Suffrage Movement but little is known about her work to include women and girls in science. Before her energy was channelled into politics, she aimed to have a scientific career. Mid-Victorian Britain was a period in which women's intellect and potential were widely debated, and in which the dominant ideology was that their primary role in life was that of wife and mother. Science was widely regarded as a "masculine" subject which women were deliberately discouraged from studying. The author concentrates on the two main areas in which important contributions were made, the British Association for the Advancement of Science, and the Manchester School Board.

  9. Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

    Science.gov (United States)

    Momma, Kazunari; Noguchi, Satoru; Malicdan, May Christine V; Hayashi, Yukiko K; Minami, Narihiro; Kamakura, Keiko; Nonaka, Ikuya; Nishino, Ichizo

    2012-01-01

    Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.

  10. Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

    Directory of Open Access Journals (Sweden)

    Kazunari Momma

    Full Text Available Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.

  11. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

    DEFF Research Database (Denmark)

    Schwartz, Marianne; Hertz, Jens Michael; Sveen, Marie Louise

    2005-01-01

    LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases...... of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I....

  12. Generalized coarse-grained Becker-Doering equations

    International Nuclear Information System (INIS)

    Bolton, Colin D; Wattis, Jonathan A D

    2003-01-01

    We present and apply a generalized coarse-graining method of reducing the Becker-Doering model; originally formulated to describe the stepwise aggregation and fragmentation of clusters during nucleation. Previous formulations of the coarse-graining procedure have allowed a temporal rescaling of the coarse-grained reaction rates; this is generalized to allow the rescaling to depend on cluster size. The form of this factor is derived for general reaction rates and general mesh function so that the steady-state solution is preserved; in the case of an even mesh function the kinetics can also be accurately reproduced. With a size-dependent mesh function the equilibrium solution and the form of convergence to this state are matched for a specific example. Finally we consider reaction rates relevant to the classical nucleation theory of spherical cluster growth, and numerically compare solutions of the full system to the generalized coarse-grained system in both constant monomer and constant mass formulations, demonstrating the accuracy of the method

  13. Duchenne and Becker muscular dystrophy in adolescents: current perspectives.

    Science.gov (United States)

    Andrews, Jennifer G; Wahl, Richard A

    2018-01-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives.

  14. Muscle MRI and functional outcome measures in Becker muscular dystrophy.

    Science.gov (United States)

    Barp, Andrea; Bello, Luca; Caumo, Luca; Campadello, Paola; Semplicini, Claudio; Lazzarotto, Annalisa; Sorarù, Gianni; Calore, Chiara; Rampado, Alessandro; Motta, Raffaella; Stramare, Roberto; Pegoraro, Elena

    2017-11-22

    Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease progression in dystrophinopathies. Correlation with clinically meaningful outcome measures such as North Star Ambulatory Assessment (NSAA) and 6 minute walk test (6MWT) is paramount for biomarker qualification. In this study, 51 molecularly confirmed BMD patients (aged 7-69 years) underwent muscle MRI and were evaluated with functional measures (NSAA and 6MWT) at the time of the MRI, and subsequently after one year. We confirmed a pattern of fatty substitution involving mainly the hip extensors and most thigh muscles. Severity of muscle fatty substitution was significantly correlated with specific DMD mutations: in particular, patients with an isolated deletion of exon 48, or deletions bordering exon 51, showed milder involvement. Fat infiltration scores correlated with baseline functional measures, and predicted changes after 1 year. We conclude that in BMD, skeletal muscle MRI not only strongly correlates with motor function, but also helps in predicting functional deterioration within a 12-month time frame.

  15. Follistatin Gene Therapy Improves Ambulation in Becker Muscular Dystrophy.

    Science.gov (United States)

    Al-Zaidy, Samiah A; Sahenk, Zarife; Rodino-Klapac, Louise R; Kaspar, Brian; Mendell, Jerry R

    2015-09-02

    Follistatin is a ubiquitous secretory propeptide that functions as a potent inhibitor of the myostatin pathway, resulting in an increase in skeletal muscle mass. Its ability to interact with the pituitary activin-inhibin axis and suppress the secretion of follicle-stimulating hormone (FSH) called for caution in its clinical applicability. This limitation was circumvented by the use of one of the alternatively spliced follistatin variants, FS344, undergoing post-translational modification to FS315. This follistatin isoform is serum-based, and has a 10-fold lower affinity to activin compared to FS288. Preclinical studies of intramuscular delivery of the follistatin gene demonstrated safety and efficacy in enhancing muscle mass. We herein review the evidence supporting the utility of follistatin as a genetic enhancer to improve cellular performance. In addition, we shed light on the results of the first clinical gene transfer trial using the FS344 isoform of follistatin in subjects with Becker muscular dystrophy as well as the future directions for clinical gene therapy trials using follistatin.

  16. Dystrophin in frameshift deletion patients with Becker Muscular Dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gangopadhyay, S.B.; Ray, P.N.; Worton, R.G.; Sherratt, T.G.; Heckmatt, J.Z.; Dubowitz, V.; Strong, P.N.; Miller, G. (Penn State College of Medicine, Hershey, PA (United States)); Shokeir, M. (Univ. Hospital, Saskatchewan (Canada))

    1992-09-01

    In a previous study the authors identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. They have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases they detected slightly lower-molecular-weight dystrophin in 12%-15% abundance relative to the normal. By sequencing amplified mRNA they have found that exon 2 is spliced to exon 8, a splice that produces a frameshifted mRNA, and have found no evidence for alternate splicing that might be involved in restoration of dystrophin mRNA reading frame in the patients with a mild phenotype. Other transcriptional and posttranscriptional mechanisms such as cryptic promoter, ribosomal frameshifting, and reinitiation are suggested that might play some role in restoring the reading frame. 34 refs., 5 figs. 1 tab.

  17. Duchenne and Becker muscular dystrophy in adolescents: current perspectives

    Science.gov (United States)

    Andrews, Jennifer G; Wahl, Richard A

    2018-01-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives. PMID:29588625

  18. Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Holtzer, Caleb; Meaney, F John; Andrews, Jennifer; Ciafaloni, Emma; Fox, Deborah J; James, Katherine A; Lu, Zhenqiang; Miller, Lisa; Pandya, Shree; Ouyang, Lijing; Cunniff, Christopher

    2011-11-01

    To determine whether sociodemographic factors are associated with delays at specific steps in the diagnostic process of Duchenne and Becker muscular dystrophy. We examined abstracted medical records for 540 males from population-based surveillance sites in Arizona, Colorado, Georgia, Iowa, and western New York. We used linear regressions to model the association of three sociodemographic characteristics with age at initial medical evaluation, first creatine kinase measurement, and earliest DNA analysis while controlling for changes in the diagnostic process over time. The analytical dataset included 375 males with information on family history of Duchenne and Becker muscular dystrophy, neighborhood poverty levels, and race/ethnicity. Black and Hispanic race/ethnicity predicted older ages at initial evaluation, creatine kinase measurement, and DNA testing (P Becker muscular dystrophy predicted younger ages at initial evaluation, creatine kinase measurement and DNA testing (P Becker muscular dystrophy are evident even after adjustment for family history of Duchenne and Becker muscular dystrophy and changes in the diagnostic process over time. Black and Hispanic children are initially evaluated at older ages than white children, and the gap widens at later steps in the diagnostic process.

  19. Botanical smuts and hermaphrodites: Lydia Becker, Darwin's botany, and education reform.

    Science.gov (United States)

    Gianquitto, Tina

    2013-06-01

    In 1868, Lydia Becker (1827-1890), the renowned Manchester suffragist, announced in a talk before the British Association for the Advancement of Science that the mind had no sex. A year later, she presented original botanical research at the BAAS, contending that a parasitic fungus forced normally single-sex female flowers of Lychnis diurna to develop stamens and become hermaphroditic. This essay uncovers the complex relationship between Lydia Becker's botanical research and her stance on women's rights by investigating how her interest in evolutionary theory, as well as her correspondence with Charles Darwin, critically informed her reform agendas by providing her with a new vocabulary for advocating for equality. One of the facts that Becker took away from her work on Lychnis was that even supposedly fixed, dichotomous categories such as biological sex became unfocused under the evolutionary lens. The details of evolutionary theory, from specific arguments on structural adaptations to more encompassing theories on heredity (i.e., pangenesis), informed Becker's understanding of human physiology. At the same time, Becker's belief in the fundamental equality of the sexes enabled her to perceive the distinction between inherent, biological differences and culturally contingent ones. She applied biological principles to social constructs as she asked: Do analogous evolutionary forces act on humans?

  20. Mothers' psychological adaptation to Duchenne/Becker muscular dystrophy

    Science.gov (United States)

    Peay, Holly L; Meiser, Bettina; Kinnett, Kathleen; Furlong, Pat; Porter, Kathryn; Tibben, Aad

    2016-01-01

    Duchenne and Becker muscular dystrophy (DBMD) cause significant emotional and care-related burden on caregivers, but no studies have evaluated predictors of positive caregiver outcomes, including disorder-specific psychological adaptation. Using a community-engaged approach focused on supporting mothers in positive aspects of caregiving, this prospective study aims to assess (i) the association between child's baseline functional status and mothers' illness perceptions, resilience, and coping self-efficacy; and (ii) predictors of mothers' psychological adaptation to caring for a child with DBMD. Biological mothers with at least one living child with DBMD completed a baseline survey (n=205) with 1-year (n=147) and 2-year (n=144) follow-up surveys. Worse child's baseline function was associated not only with increased caregiver burden and reduced maternal resilience, but also with perception of positive disease impact on the family. At two follow-ups, increased psychological adaptation to DBMD was predicted by resilience (β=0.264, P=0.001) and perceived positive impact (β=0.310, P<0.001), controlling for mother's age (β=−0.305, P<0.001) and income (β=−0.088, P=0.245). Child's functional status and caregiver burden of DBMD did not predict DBMD-specific adaptation. Though clinicians caring for families with DBMD should anticipate increased caregiver burden as the disorder progresses, interventions focused on caregiver burden are not expected to influence mothers' psychosocial adaptation. Efforts to improve mothers' well-being should focus on fostering mothers' resilience and enhancing perceptions of positive disease impact (benefit finding). Results suggest that psychosocial interventions can highlight strengths and well-being rather than burden and deficit. PMID:26306645

  1. Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy

    Science.gov (United States)

    Martin, Elizabeth A.; Barresi, Rita; Byrne, Barry J.; Tsimerinov, Evgeny I.; Scott, Bryan L.; Walker, Ashley E.; Gurudevan, Swaminatha V.; Anene, Francine; Elashoff, Robert M.; Thomas, Gail D.; Victor, Ronald G.

    2013-01-01

    Becker muscular dystrophy (BMD) is a progressive X-linked muscle wasting disease for which there is no treatment. Like Duchenne muscular dystrophy (DMD), BMD is caused by mutations in the gene encoding dystrophin, a structural cytoskeletal protein that also targets other proteins to the muscle sarcolemma. Among these is neuronal nitric oxide synthase (nNOSμ), which requires certain spectrin-like repeats in dystrophin’s rod domain and the adaptor protein α-syntrophin to be targeted to the sarcolemma. When healthy skeletal muscle is subjected to exercise, sarcolemmal nNOSμ-derived nitric oxide (NO) attenuates local α-adrenergic vasoconstriction thereby optimizing perfusion of muscle. We found previously that this protective mechanism is defective—causing functional muscle ischemia—in dystrophin-deficient muscles of the mdx mouse (a model of DMD) and of children with DMD, in whom nNOSμ is mislocalized to the cytosol instead of the sarcolemma. Here, we report that this protective mechanism also is defective in men with BMD in whom the most common dystrophin mutations disrupt sarcolemmal targeting of nNOSμ. In these men, the vasoconstrictor response, measured as a decrease in muscle oxygenation, to reflex sympathetic activation is not appropriately attenuated during exercise of the dystrophic muscles. In a randomized placebo-controlled cross-over trial, we show that functional muscle ischemia is alleviated and normal blood flow regulation fully restored in the muscles of men with BMD by boosting NO-cGMP signaling with a single dose of the drug tadalafil, a phosphodiesterase (PDE5A) inhibitor. These results further support an essential role for sarcolemmal nNOSμ in the normal modulation of sympathetic vasoconstriction in exercising human skeletal muscle and implicate the NO-cGMP pathway as a putative new target for treating BMD. PMID:23197572

  2. Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy.

    Science.gov (United States)

    Martin, Elizabeth A; Barresi, Rita; Byrne, Barry J; Tsimerinov, Evgeny I; Scott, Bryan L; Walker, Ashley E; Gurudevan, Swaminatha V; Anene, Francine; Elashoff, Robert M; Thomas, Gail D; Victor, Ronald G

    2012-11-28

    Becker muscular dystrophy (BMD) is a progressive X-linked muscle wasting disease for which there is no treatment. Like Duchenne muscular dystrophy (DMD), BMD is caused by mutations in the gene encoding dystrophin, a structural cytoskeletal protein that also targets other proteins to the muscle sarcolemma. Among these is neuronal nitric oxide synthase (nNOSμ), which requires certain spectrin-like repeats in dystrophin's rod domain and the adaptor protein α-syntrophin to be targeted to the sarcolemma. When healthy skeletal muscle is subjected to exercise, sarcolemmal nNOSμ-derived NO attenuates local α-adrenergic vasoconstriction, thereby optimizing perfusion of muscle. We found previously that this protective mechanism is defective-causing functional muscle ischemia-in dystrophin-deficient muscles of the mdx mouse (a model of DMD) and of children with DMD, in whom nNOSμ is mislocalized to the cytosol instead of the sarcolemma. We report that this protective mechanism also is defective in men with BMD in whom the most common dystrophin mutations disrupt sarcolemmal targeting of nNOSμ. In these men, the vasoconstrictor response, measured as a decrease in muscle oxygenation, to reflex sympathetic activation is not appropriately attenuated during exercise of the dystrophic muscles. In a randomized placebo-controlled crossover trial, we show that functional muscle ischemia is alleviated and normal blood flow regulation is fully restored in the muscles of men with BMD by boosting NO-cGMP (guanosine 3',5'-monophosphate) signaling with a single dose of the drug tadalafil, a phosphodiesterase 5A inhibitor. These results further support an essential role for sarcolemmal nNOSμ in the normal modulation of sympathetic vasoconstriction in exercising human skeletal muscle and implicate the NO-cGMP pathway as a putative new target for treating BMD.

  3. The natural history of Becker expandable breast implants: a single-center 10-year experience.

    Science.gov (United States)

    Sindali, Katia; Davis, Marcus; Mughal, Maleeha; Orkar, Kusu S

    2013-09-01

    Use of Becker expandable breast implants in single-stage breast surgery is a well-established technique; however, replacement with fixed-volume implants is common. The authors sought to analyze the long-term natural history of these implants over a wide range of surgical indications. A retrospective review of 330 consecutive patients who underwent 384 Becker expander breast reconstructions over a 10-year period in a dedicated plastic surgery unit was undertaken. Implant indication, Becker type, volume and site, complications, expander lifespan, and explant reasons were assessed. Two hundred twenty-eight patients (267 implants) and 102 patients (117 implants) underwent implantation for congenital deformities and breast cancer reconstruction, respectively. One hundred eighty-seven (48 percent) were explanted at a median period of 13.0 months (range, 9.0 to 26.0 months), 149 (39 percent) for aesthetic reasons and 38 (10 percent) for complications. Complication rates were higher in breast cancer reconstruction compared with congenital patients (19.6 percent versus 7.9 percent; p = 0.002), driven by an increased rate of wound complications (13.7 percent versus 4.4 percent; p = 0.003). Cancer-related surgery and advancing age were the only predictors of complication risk. The overall Becker expander retention rate was 24.9 percent and 46.8 percent at 150 months in the cancer reconstruction and congenital groups, respectively. Forty-seven percent of Becker implants were retained long term after congenital corrective surgery; only 25 percent were retained after postmastectomy reconstruction. Poor aesthetics was driving the exchange for fixed-volume implants, indicating that after breast cancer reconstruction, Becker expanders were being used as part of a two-stage reconstructive strategy.

  4. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

    DEFF Research Database (Denmark)

    Witting, Nanna; Duno, M; Vissing, J

    2013-01-01

    Becker muscular dystrophy features progressive proximal weakness, wasting and often focal hypertrophy. We present a patient with pain and cramps from adolescence. Widespread muscle hypertrophy, preserved muscle strength and a 10-20-fold raised CPK were noted. Muscle biopsy was dystrophic......, and Western blot showed a 95% reduction of dystrophin levels. Genetic analyses revealed a non-sense mutation in exon 2 of the dystrophin gene. This mutation is predicted to result in a Duchenne phenotype, but resulted in a mild Becker muscular dystrophy with widespread muscle hypertrophy. We suggest...

  5. Adult patient with Becker dystrophy undergoing orthopedic surgery: an anesthesia challenge

    Directory of Open Access Journals (Sweden)

    Parish M

    2018-02-01

    Full Text Available Masoud Parish, Haleh Farzin Anesthesiology Department, Tabriz University of Medical Sciences, Shohada Teaching Hospital, Tabriz, Iran Abstract: Muscular dystrophies are considered to be a series of neuromuscular diseases with genetic causes and are characterized by progressive muscle weakness and degeneration of the skeletal muscle. The case of an adult man with Becker dystrophy referred for repair of the patella tendon tearing and patella fracture is described. He underwent successful surgery using total intravenous anesthesia without any complications. Keywords: Becker dystrophy, orthopedic surgery, adult, intravenous anesthesia

  6. Sex, divoce and “machismo”: about Gary Becker, nobel prize of economy 1992

    OpenAIRE

    Fernández-Baca, Jorge

    1992-01-01

    Gary Becker ha dedicado su vida a extender el campo de aplicación de la teoría económica a todas las actividades del ser humano. En su Tratado sobre la Familia, Becker estudia los problemas de la discriminación sexual, la poligamia y la monogamia, la elección de parejas, la demanda de hijos y el divorcio, desde el punto de vista de la inversión en capital humano. Este es posiblemente el trabajo que lo ha llevado a merecer el Premio Nobel de Economía y del cual se ofrece aquí un breve comentar...

  7. Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy

    DEFF Research Database (Denmark)

    Lindberg, Ulrich; Witting, Nanna; Jørgensen, Stine Lundgaard

    2017-01-01

    Patients suffering from Becker muscular dystrophy (BMD) have dysfunctional dystrophin proteins and are deficient in neuronal nitric oxide synthase (nNOS) in muscles. This causes functional ischemia and contributes to muscle wasting. Similar functional ischemia may be present in brains of patients...

  8. Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Witting, Nanna; Kruuse, Christina; Nyhuus, Bo

    2014-01-01

    OBJECTIVE: Patients with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy lack neuronal nitric oxide synthase (nNOS). nNOS mediates physiological sympatholysis, thus ensuring adequate blood supply to working muscle. In mice lacking dystrophin, restoration of nNOS effects...

  9. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Thune, Jens Jakob; Køber, Lars

    2008-01-01

    OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology...

  10. Endurance training improves fitness and strength in patients with Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Sveen, Marie Louise; Jeppesen, Tina D; Hauerslev, Simon

    2008-01-01

    with the dystrophinopathy, Becker muscular dystrophy (BMD). Eleven patients with BMD and seven matched, healthy subjects cycled 50, 30 min sessions at 65% of their maximal oxygen uptake (VO(2max)) over 12 weeks, and six patients continued cycling for 1 year. VO(2max), muscle biopsies, echocardiography, plasma creatine...

  11. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy

    NARCIS (Netherlands)

    van den Bergen, J. C.; Schade van Westrum, S. M.; Dekker, L.; van der Kooi, A. J.; de Visser, M.; Wokke, B. H. A.; Straathof, C. S.; Hulsker, M. A.; Aartsma-Rus, A.; Verschuuren, J. J.; Ginjaar, H. B.

    2014-01-01

    Objective Duchenne and Becker muscular dystrophy (DMD/BMD) are both caused by mutations in the DMD gene. Out-of-frame mutations in DMD lead to absence of the dystrophin protein, while in-frame BMD mutations cause production of internally deleted dystrophin. Clinically, patients with DMD loose

  12. Body weight-supported training in Becker and Limb Girdle 2I muscular dystrophy

    DEFF Research Database (Denmark)

    Jensen, Bente Rona; Berthelsen, Martin Peter; Husu, Edith

    2016-01-01

    INTRODUCTION: We studied the functional effects of combined strength and aerobic anti-gravity training in severely affected patients with Becker and Limb-Girdle muscular dystrophies. METHODS: Eight patients performed 10-week progressive combined strength (squats, calf raises, lunges) and aerobic...

  13. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    van Westrum, S. M. Schade; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.

    Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated

  14. Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies

    DEFF Research Database (Denmark)

    Petri, Helle; Sveen, Marie-Louise; Thune, Jens Jakob

    2015-01-01

    AIM: To assess the degree and progression of cardiac involvement in patients with limb-girdle type 2 (LGMD2) and Becker muscular dystrophies (BMD). METHODS: A follow-up study of 100 LGMD2 (types A-L) and 30 BMD patients assessed by electrocardiogram (ECG) and echocardiography, supplemented...

  15. Adult patient with Becker dystrophy undergoing orthopedic surgery: an anesthesia challenge.

    Science.gov (United States)

    Parish, Masoud; Farzin, Haleh

    2018-01-01

    Muscular dystrophies are considered to be a series of neuromuscular diseases with genetic causes and are characterized by progressive muscle weakness and degeneration of the skeletal muscle. The case of an adult man with Becker dystrophy referred for repair of the patella tendon tearing and patella fracture is described. He underwent successful surgery using total intravenous anesthesia without any complications.

  16. Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity.

    Science.gov (United States)

    van den Bergen, J C; Wokke, B H A; Hulsker, M A; Verschuuren, J J G M; Aartsma-Rus, A M

    2015-03-01

    Becker muscular dystrophy is characterized by a variable disease course. Many factors have been implicated to contribute to this diversity, among which the expression of several components of the dystrophin associated glycoprotein complex. Together with dystrophin, most of these proteins anchor the muscle fiber cytoskeleton to the extracellular matrix, thus protecting the muscle from contraction induced injury, while nNOS is primarily involved in inducing vasodilation during muscle contraction, enabling adequate muscle oxygenation. In the current study, we investigated the role of three components of the dystrophin associated glycoprotein complex (beta-dystroglycan, gamma-sarcoglycan and nNOS) and the dystrophin homologue utrophin on disease severity in Becker patients. Strength measurements, data about disease course and fresh muscle biopsies of the anterior tibial muscle were obtained from 24 Becker patients aged 19 to 66. The designation of Becker muscular dystrophy in this study was based on the mutation and not on the clinical severity. Contrary to previous studies, we were unable to find a relationship between expression of nNOS, beta-dystroglycan and gamma-sarcoglycan at the sarcolemma and disease severity, as measured by muscle strength in five muscle groups and age at reaching several disease milestones. Unexpectedly, we found an inverse correlation between utrophin expression at the sarcolemma and age at reaching disease milestones. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy : an updated protocol

    NARCIS (Netherlands)

    vanEssen, AJ; Kneppers, ALJ; vanderHout, AH; Scheffer, H; Ginjaar, IB; tenKate, LP; vanOmmen, GJB; Buys, CHCM; Bakker, E

    1997-01-01

    Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferably by a

  18. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy

    NARCIS (Netherlands)

    de Visser, M.; de Voogt, W. G.; la Rivière, G. V.

    1992-01-01

    We report a study, assessing involvement of the heart in 33 familial cases of Becker muscular dystrophy (BMD), 31 familiar cases of facioscapulohumeral (FSH) dystrophy, and 27 familial cases of Bethlem myopathy. In the patients with BMD, correlations of myocardial involvement with age and extent of

  19. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Schade van Westrum, S. M.; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.

    2011-01-01

    Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated

  20. A Cross-Sectional Study of School Experiences of Boys with Duchenne and Becker Muscular Dystrophy

    Science.gov (United States)

    Soim, Aida; Lamb, Molly; Campbell, Kimberly; Pandya, Shree; Peay, Holly; Howard, James F., Jr.; Fox, Deborah

    2016-01-01

    The objectives of this study were to investigate types of supportive school services received and factors related to provision of these services. We conducted a cross-sectional study to describe the school experience of males with Duchenne and Becker muscular dystrophies. Study subjects were identified through the Muscular Dystrophy Surveillance,…

  1. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I

    DEFF Research Database (Denmark)

    Løkken, Nicoline; Hedermann, Gitte; Thomsen, Carsten

    2016-01-01

    We investigated whether a linear relationship between muscle strength and cross-sectional area (CSA) is preserved in calf muscles of patients with Becker muscular dystrophy (BMD, n = 14) and limb-girdle type 2I muscular dystrophy (LGMD2I, n = 11), before and after correcting for muscle fat...

  2. Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

    NARCIS (Netherlands)

    Straathof, Chiara S. M.; van Heusden, Dave; Ippel, Pieternella F.; Post, Jan G.; Voermans, Nicol C.; de Visser, Marianne; Brusse, Esther; van den Bergen, Janneke C.; van der Kooi, Anneke J.; Verschuuren, Jan J. G. M.; Ginjaar, Hendrika B.

    2016-01-01

    The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995. All requests for DNA analysis of the DMD gene in

  3. Van gen naar ziekte; het dystrofinegen, betrokken bij Duchenne- en Becker-spierdystrofie

    NARCIS (Netherlands)

    den Dunnen, J. T.; de Visser, M.; Bakker, E.

    2002-01-01

    Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive disorders, which almost exclusively affect males. DMD is the more severe type with an onset at 2-3 years of age. Patients become wheelchair-bound before the age of 13 and often die due to cardiac arrest or respiratory

  4. Community-engaged approaches to explore research priorities in Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Peay, Holly Landrum

    2015-01-01

    This thesis presents a series of translational research studies to explore topics of importance to a patient stakeholder community--Duchenne and Becker muscular dystrophy. The overarching objective was to inform a patient/family foundation's interventions and policy and advocacy approaches. Results

  5. Late-onset Becker-type muscular dystrophy in a Border terrier dog.

    Science.gov (United States)

    Jeandel, A; Garosi, L S; Davies, L; Guo, L T; Salgüero, R; Shelton, G D

    2018-01-29

    A 9-year-old Border terrier was presented to a referral hospital after a 1-year history of progressive stiffness and exercise intolerance. Neurological examination was consistent with a neuromuscular disorder. Serum creatine kinase activity was mildly elevated. A myopathy was suspected based on MRI findings and electrophysiological examination. Muscle histopathology was consistent with a severe non-inflammatory myopathy of a dystrophic type. Immunofluorescence and western blotting confirmed a dystrophinopathy with an 80-kDa truncated dystrophin fragment similar to Becker muscular dystrophy in people. To our knowledge, this is the first description of a late-onset Becker-type muscular dystrophy in a dog, and the first description of a dystrophinopathy in a Border terrier. Muscular dystrophy in dogs should not be ruled out based on late onset clinical signs and only mildly elevated creatine kinase. © 2018 British Small Animal Veterinary Association.

  6. Usefulness of sugammadex in a patient with Becker muscular dystrophy and dilated cardiomyopathy.

    Science.gov (United States)

    Shimauchi, Tsukasa; Yamaura, Ken; Sugibe, Sayaka; Hoka, Sumio

    2014-09-01

    A 54-year-old patient with Becker muscular dystrophy and dilated cardiomyopathy underwent laparoscopic cholecystectomy under total intravenous anesthesia. Muscle relaxation was induced by rocuronium (0.4 mg/kg body weight) under train-of-four (TOF) ratio monitoring. The TOF ratio was 0 at intubation, and 0.2 at the end of surgery. Residual muscle relaxant activity was successfully reversed by sugammadex (2 mg/kg body weight) without any hemodynamic adverse effects (TOF ratio 1.0 at extubation). The clinical and hemodynamic findings suggest that sugammadex can be safely used in patients with Becker muscular dystrophy and dilated cardiomyopathy. Copyright © 2014. Published by Elsevier B.V.

  7. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2.

    Science.gov (United States)

    Witting, N; Duno, M; Vissing, J

    2013-01-01

    Becker muscular dystrophy features progressive proximal weakness, wasting and often focal hypertrophy. We present a patient with pain and cramps from adolescence. Widespread muscle hypertrophy, preserved muscle strength and a 10-20-fold raised CPK were noted. Muscle biopsy was dystrophic, and Western blot showed a 95% reduction of dystrophin levels. Genetic analyses revealed a non-sense mutation in exon 2 of the dystrophin gene. This mutation is predicted to result in a Duchenne phenotype, but resulted in a mild Becker muscular dystrophy with widespread muscle hypertrophy. We suggest that this unusual phenotype is caused by translation re-initiation downstream from the mutation site. Copyright © 2012 Elsevier B.V. All rights reserved.

  8. Becker meets Ricardo: A social and cognitive skills model of human capabilities

    OpenAIRE

    Xianwen Shi; Ronald Wolthoff; Aloysius Siow; Robert McCann

    2012-01-01

    This paper studies an equilibrium model of social and cognitive skills interactions in school, work and marriage. The model uses a common team production function in each sector which integrates the complementarity concerns of Becker with the task assigment and comparative advantage concerns of Ricardo. The theory delivers full task specialization in the labor and education markets, incomplete task specialization in marriage. It rationalizes many to one matching, a common feature in labor mar...

  9. Complementary and alternative medicine for Duchenne and Becker muscular dystrophies: characteristics of users and caregivers.

    Science.gov (United States)

    Zhu, Yong; Romitti, Paul A; Conway, Kristin M; Andrews, Jennifer; Liu, Ke; Meaney, F John; Street, Natalie; Puzhankara, Soman; Druschel, Charlotte M; Matthews, Dennis J

    2014-07-01

    Complementary and alternative medicine is frequently used in the management of chronic pediatric diseases, but little is known about its use by those with Duchenne or Becker muscular dystrophy. Complementary and alternative medicine use by male patients with Duchenne or Becker muscular dystrophy and associations with characteristics of male patients and their caregivers were examined through interviews with 362 primary caregivers identified from the Muscular Dystrophy Surveillance, Tracking, and Research Network. Overall, 272 of the 362 (75.1%) primary caregivers reported that they had used any complementary and alternative medicine for the oldest Muscular Dystrophy Surveillance, Tracking, and Research Network male in their family. The most commonly reported therapies were from the mind-body medicine domain (61.0%) followed by those from the biologically based practice (39.2%), manipulative and body-based practice (29.3%), and whole medical system (6.9%) domains. Aquatherapy, prayer and/or blessing, special diet, and massage were the most frequently used therapies. Compared with nonusers, male patients who used any therapy were more likely to have an early onset of symptoms and use a wheel chair; their caregivers were more likely to be non-Hispanic white. Among domains, associations were observed with caregiver education and family income (mind-body medicines [excluding prayer and/or blessing only] and whole medical systems) and Muscular Dystrophy Surveillance, Tracking, and Research Network site (biologically based practices and mind-body medicines [excluding prayer and/or blessing only]). Complementary and alternative medicine use was common in the management of Duchenne and Becker muscular dystrophies among Muscular Dystrophy Surveillance, Tracking, and Research Network males. This widespread use suggests further study to evaluate the efficacy of integrating complementary and alternative medicine into treatment regimens for Duchenne and Becker muscular

  10. [Jan Kusberg, Kleine Geschichte St. Petersburgs. (Regensburg, 2009) ; Ingrid Bohn. Kleine Geschichte Stockholms. (Regensburg, 2008) ; Konrad Dittrich. Kleine Lübecker Stadtgeschichte. (Regensburg, 2007)] / Dennis Hortmuth

    Index Scriptorium Estoniae

    Hormuth, Dennis

    2011-01-01

    Arvustus: Jan Kusberg, Kleine Geschichte St. Petersburgs. (Regensburg, 2009) ; Ingrid Bohn. Kleine Geschichte Stockholms. (Regensburg, 2008) ; Konrad Dittrich. Kleine Lübecker Stadtgeschichte. (Regensburg, 2007)

  11. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

    Science.gov (United States)

    Anthony, Karen; Cirak, Sebahattin; Torelli, Silvia; Tasca, Giorgio; Feng, Lucy; Arechavala-Gomeza, Virginia; Armaroli, Annarita; Guglieri, Michela; Straathof, Chiara S; Verschuuren, Jan J; Aartsma-Rus, Annemieke; Helderman-van den Enden, Paula; Bushby, Katherine; Straub, Volker; Sewry, Caroline; Ferlini, Alessandra; Ricci, Enzo; Morgan, Jennifer E; Muntoni, Francesco

    2011-12-01

    Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy phenotype to that of the milder disorder, Becker muscular dystrophy, typically caused by in-frame dystrophin deletions that allow the production of an internally deleted but partially functional dystrophin. There is ongoing debate regarding the functional properties of the different internally deleted dystrophins produced by exon skipping for different mutations; more insight would be valuable to improve and better predict the outcome of exon skipping clinical trials. To this end, we have characterized the clinical phenotype of 17 patients with Becker muscular dystrophy harbouring in-frame deletions relevant to on-going or planned exon skipping clinical trials for Duchenne muscular dystrophy and correlated it to the levels of dystrophin, and dystrophin-associated protein expression. The cohort of 17 patients, selected exclusively on the basis of their genotype, included 4 asymptomatic, 12 mild and 1 severe patient. All patients had dystrophin levels of >40% of control and significantly higher dystrophin (P = 0.013), β-dystroglycan (P = 0.025) and neuronal nitric oxide synthase (P = 0.034) expression was observed in asymptomatic individuals versus symptomatic patients with Becker muscular dystrophy. Furthermore, grouping the patients by deletion, patients with Becker muscular dystrophy with deletions with an end-point of exon 51 (the skipping of which could rescue the largest group of Duchenne muscular dystrophy deletions) showed significantly higher dystrophin levels (P = 0.034) than those with deletions ending with exon 53. This is the first quantitative study on both

  12. Interleaved MRI/MRS study of muscle perfusion, oxygenation and high energy phosphate metabolism in normal subjects and Becker's myopathic patients

    International Nuclear Information System (INIS)

    Toussaint, J.F.; Brillault-Salvat, C.; Giacomini, E.; Bloch, G.; Duboc, D.; Jehenson, P.

    1998-01-01

    We present the first results of a study comparing patients suffering from Becker's myopathy and normal volunteers. We simultaneously assessed perfusion, oxygenation and high-energy phosphate metabolism using an interleaved NMR/NMRS approach. Muscle metabolism does not seem to differ in Becker's patients, except for myoglobin reoxygenation rates. (authors)

  13. Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.

    Science.gov (United States)

    Uwineza, Annette; Hitayezu, Janvier; Murorunkwere, Seraphine; Ndinkabandi, Janvier; Kalala Malu, Celestin Kaputu; Caberg, Jean Hubert; Dideberg, Vinciane; Bours, Vincent; Mutesa, Leon

    2014-04-01

    Duchenne and Becker muscular dystrophies are the most common clinical forms of muscular dystrophies. They are genetically X-linked diseases caused by a mutation in the dystrophin (DMD) gene. A genetic diagnosis was carried out in six Rwandan patients presenting a phenotype of Duchenne and Becker muscular dystrophies and six asymptomatic female carrier relatives using multiplex ligation-dependent probe amplification (MLPA). Our results revealed deletion of the exons 48-51 in one patient, an inherited deletion of the exons 8-21 in two brothers and a de novo deletion of the exons 46-50 in the fourth patient. No copy number variation was found in two patients. Only one female carrier presented exon deletion in the DMD gene. This is the first cohort of genetic analysis in Rwandan patients affected by Duchenne and Becker muscular dystrophies. This report confirmed that MLPA assay can be easily implemented in low-income countries.

  14. Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.

    Science.gov (United States)

    James, Katherine A; Cunniff, Christopher; Apkon, Susan D; Mathews, Katherine; Lu, Zhenqiang; Holtzer, Caleb; Pandya, Shree; Ciafaloni, Emma; Miller, Lisa

    2015-09-01

    Fractures are a significant concern for individuals with Duchenne/Becker muscular dystrophy with 21% to 44% of males experiencing a fracture. Factors that increase or decrease the risk for fracture have been suggested in past research, although statistical risk has not been determined. In this retrospective cohort study, we used the Muscular Dystrophy Surveillance, Tracking and Research Network cohort, a large, population-based sample to identify risk factors associated with first fractures in patients with Duchenne or Becker muscular dystrophy. Our study cohort included males with Duchenne or Becker muscular dystrophy born between 1982 and 2006 who resided in Arizona, Colorado, Georgia, Iowa, and Western New York, retrospectively identified and followed through 2010. We utilized a multivariate Cox proportional hazard model to determine hazard ratios for relevant factors associated with first fracture risk including race/ethnicity, surveillance site, ambulation status, calcium/vitamin D use and duration, bisphosphonate use and duration, and corticosteroid use and duration. Of 747 cases, 249 had at least 1 fracture (33.3%). Full-time wheelchair use increased the risk of first fracture by 75% for every 3 months of use (hazard ratio=1.75, 95% confidence interval, 1.14, 2.68), but corticosteroid use, bisphosphonate use, and calcium/vitamin D use did not significantly affect risk in the final adjusted model. In this cohort, first fractures were common and full-time wheelchair use, but not corticosteroid use, was identified as a risk factor. The impact of prevention measures should be more thoroughly assessed. Fractures are a significant concern for individuals with dystrophinopathies, but the contribution of various risk factors has not been consistently demonstrated.

  15. Muscle MRS detects elevated PDE/ATP ratios prior to fatty infiltration in Becker muscular dystrophy.

    Science.gov (United States)

    Wokke, B H; Hooijmans, M T; van den Bergen, J C; Webb, A G; Verschuuren, J J; Kan, H E

    2014-11-01

    Becker muscular dystrophy (BMD) is characterized by progressive muscle weakness. Muscles show structural changes (fatty infiltration, fibrosis) and metabolic changes, both of which can be assessed using MRI and MRS. It is unknown at what stage of the disease process metabolic changes arise and how this might vary for different metabolites. In this study we assessed metabolic changes in skeletal muscles of Becker patients, both with and without fatty infiltration, quantified via Dixon MRI and (31) P MRS. MRI and (31) P MRS scans were obtained from 25 Becker patients and 14 healthy controls using a 7 T MR scanner. Five lower-leg muscles were individually assessed for fat and muscle metabolite levels. In the peroneus, soleus and anterior tibialis muscles with non-increased fat levels, PDE/ATP ratios were higher (P < 0.02) compared with controls, whereas in all muscles with increased fat levels PDE/ATP ratios were higher compared with healthy controls (P ≤ 0.05). The Pi /ATP ratio in the peroneus muscles was higher in muscles with increased fat fractions (P = 0.005), and the PCr/ATP ratio was lower in the anterior tibialis muscles with increased fat fractions (P = 0.005). There were no other significant changes in metabolites, but an increase in tissue pH was found in all muscles of the total group of BMD patients in comparison with healthy controls (P < 0.05). These findings suggest that (31) P MRS can be used to detect early changes in individual muscles of BMD patients, which are present before the onset of fatty infiltration. Copyright © 2014 John Wiley & Sons, Ltd.

  16. Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

    Science.gov (United States)

    Bello, Luca; Campadello, Paola; Barp, Andrea; Fanin, Marina; Semplicini, Claudio; Sorarù, Gianni; Caumo, Luca; Calore, Chiara; Angelini, Corrado; Pegoraro, Elena

    2016-09-01

    We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was quantified by immunoblot. We grouped deletions ending on exon 45 ("del 45-x", n = 28) or 51 ("del x-51", n = 10); isolated exon 48 deletion ("del 48", n = 10); and other mutations (n = 21). Only patients in the "del 45-x" or "other" groups became non-ambulatory (n = 5, log-rank p = n.s.) or unable to run (n = 22, p dystrophy.

  17. Growth Hormone Deficiency in a Patient with Becker Muscular Dystrophy: A Pediatric Case Report

    Directory of Open Access Journals (Sweden)

    Valeria Calcaterra

    2013-01-01

    Full Text Available Objective. To describe a biochemical growth hormone (GH deficiency and to evaluate therapeutic result in a six-year-old male with Becker muscular dystrophy (BMD. Methods. GH peak was evaluated after response to arginine and insulin. Bone age was evaluated according to Greulich and Pyle method. Results. The GH-supplementary therapy was very effective in terms of growth gain. Conclusion. The possibility of a growth hormone deficiency and treatment with GH in patients with BMD cannot be excluded, especially considering the good therapeutic response.

  18. CAPABILITIES OF ONE-STAGE BREAST REPAIR WITH A BECKER EXPANDING ENDOPROSTHESIS

    Directory of Open Access Journals (Sweden)

    N. R. Fedyanina

    2009-01-01

    Full Text Available Organ-preserving surgical interventions can be performed owing to improved drug and radiation therapy methods. When radical resec- tion is contraindicated, radical mastectomy is carried out, which is a serious psychological trauma to a woman.In this connection, plastic reparative surgery for breast malignancies is growing in importance. An operation using silicone implants is technically much simpler and less traumatic to patients; therefore one-stage repair with a Becker expanding endoprosthesis both alone and that in combination with displaced flaps occupy a highly important place.

  19. Orthodontic treatment in a patient with unilateral open-bite and Becker muscular dystrophy. A 5-year follow-up

    Directory of Open Access Journals (Sweden)

    Juan Fernando Aristizabal

    2014-12-01

    Full Text Available INTRODUCTION: Becker muscular dystrophy is an X-chromosomal linked anomaly characterized by progressive muscle wear and weakness. This case report shows the orthodontic treatment of a Becker muscular dystrophy patient with unilateral open bite.METHODS: To correct patient's malocclusion, general anesthesia and orthognathic surgery were not considered as an option. Conventional orthodontic treatment with intermaxillary elastics and muscular functional therapy were employed instead.RESULTS: After 36 months, open bite was corrected. The case remains stable after a 5-year post-treatment retention period.

  20. TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy.

    Science.gov (United States)

    Fiorillo, Alyson A; Heier, Christopher R; Novak, James S; Tully, Christopher B; Brown, Kristy J; Uaesoontrachoon, Kitipong; Vila, Maria C; Ngheim, Peter P; Bello, Luca; Kornegay, Joe N; Angelini, Corrado; Partridge, Terence A; Nagaraju, Kanneboyina; Hoffman, Eric P

    2015-09-08

    The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability. In muscle from Becker patients sharing the same exon 45-47 in-frame deletion, dystrophin levels negatively correlate with microRNAs predicted to target dystrophin. Seven microRNAs inhibit dystrophin expression in vitro, and three are validated in vivo (miR-146b/miR-374a/miR-31). microRNAs are expressed in dystrophic myofibers and increase with age and disease severity. In exon-skipping-treated mdx mice, microRNAs are significantly higher in muscles with low dystrophin rescue. TNF-α increases microRNA levels in vitro whereas NFκB inhibition blocks this in vitro and in vivo. Collectively, these data show that microRNAs contribute to variable dystrophin levels in muscular dystrophy. Our findings suggest a model where chronic inflammation in distinct microenvironments induces pathological microRNAs, initiating a self-sustaining feedback loop that exacerbates disease progression. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  1. A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy.

    Science.gov (United States)

    Yamada, Yuka; Kawakami, Michiyuki; Wada, Ayako; Otsuka, Tomoyoshi; Muraoka, Kaori; Liu, Meigen

    2018-06-01

    Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia. Swinyard functional ability stage was not significantly different between the BMD and DMD groups. Rate of aspiration, P-A scale score, and total VDS score did not differ across groups, but the VDS item score for laryngeal elevation was lower in the BMD group than in the DMD group (median scores 4.5 and 9, respectively; p Becker muscular dystrophy (BMD) was not well known. Eighteen patients with BMD and 18 patients with Duchenne muscular dystrophy were examined with videofluorography. Patients with BMD have swallowing problems similar to those observed in patients with DMD.

  2. Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy.

    Science.gov (United States)

    Tatulli, F; Caraglia, A; Delcuratolo, A; Cassano, S; Chetta, G S

    2017-01-01

    Inguinal hernia repairs are routinely performed as outpatient procedures in most patients, whereas a few require admission due to clinical or social peculiarities. Muscular dystrophies are inherited disorders characterized by progressive muscle wasting and weakness. In case of surgery there is no definite recommendation for either general or regional anesthesia. This contribution regards a 48 y. o. male patient diagnosed with Becker Muscular Dystrophy by muscle biopsy 10 years earlier. He had a left-sided sizable inguinoscrotal hernia with repeat episodes of incarceration. An elective mesh repair with suction drainage was accomplished under selective spinal anesthesia. The post-operative course was uneventful. A few inguinal hernia repairs require admission due to peculiarities such as extensive scrotal hernias requiring suction drainage. Muscular dystrophies are inherited disorders with no cure and no two dystrophy patients are exactly alike, therefore the health issues will be different for each individual. In case of surgery there is no definite recommendation for either general or regional anesthesia. This contribution regards the successful elective mesh repair with suction drainage of a large left-sided inguino-scrotal hernia in a 48 y. o. male patient affected by Becker muscular dystrophy by selective spinal anesthesia obtained by 10 milligrams of hyperbaric bupivacaine. Effective mesh repair with suction drainage of large inguinal hernias under spinal anesthesia can be achieved in patients affected by muscular dystrophy.

  3. Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study.

    Science.gov (United States)

    Nakamura, Yuko; Saito, Yoshiaki; Kubota, Norika; Matsumura, Wataru; Hosoda, Chika; Tamasaki-Kondo, Akiko; Nishimura, Yoko; Sunada, Yoshihide; Fukada, Masuyuki; Ohno, Takako; Maegaki, Yoshihiro; Matsuo, Masafumi; Tokita, Yasuko

    2018-03-08

    To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized. This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow (PCF), average PCO 2 in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed. In five BMD patients, including three who were still ambulant, nocturnal average PCO 2 was elevated to >45 mmHg at 12-31 years of age. Noninvasive positive pressure ventilation was initiated in four patients. Gradual declines in FVC% and PEF% were evident in one BMD patient with exon 3-7 deletion, whereas these functions did not change in the remaining BMD patients. PCF, FEV1%, and LVEF were less informative for the assessment of respiratory function in this patient series. Sleep hypercapnia was present in certain BMD patients, which was unexpected from the routine pulmonary function tests. Individualized assessment of nocturnal PCO 2 , partly based on the deletion types, should be further explored in the clinical practice of BMD patients. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  4. A Case of Refractory Heart Failure in Becker Muscular Dystrophy Improved With Corticosteroid Therapy.

    Science.gov (United States)

    Nakamura, Makiko; Sunagawa, Osahiko; Hokama, Ryo; Tsuchiya, Hiroyuki; Miyara, Takafumi; Taba, Yoji; Touma, Takashi

    2016-09-28

    The patient was a 26 year-old man who was referred to our hospital in June 2011 because of severe heart failure. At age 24 years, he was found to have Becker muscular dystrophy. He received enalapril for cardiac dysfunction; however, he had worsening heart failure and was thus referred to our hospital. Echocardiography showed enlargement of the left ventricle, with a diastolic dimension of 77 mm and ejection fraction of 19%. His condition improved temporarily after an infusion of dobutamine and milrinone. He was then administered amiodarone for ventricular tachycardia; however, he subsequently developed hemoptysis. Amiodarone was discontinued and corticosteroid pulse therapy was administered followed by oral prednisolone (PSL). His creatinine phosphokinase (CPK) level and cardiomegaly improved after the corticosteroid therapy. The PSL dose was reduced gradually, bisoprolol was introduced, and the catecholamine infusion was tapered. A cardiac resynchronization device was implanted; however, the patient's condition gradually worsened, which necessitated dobutamine infusion for heart failure. We readministered 30 mg PSL, which decreased the CPK level and improved the cardiomegaly. The dobutamine infusion was discontinued, and the patient was discharged. He was given 7.5 mg PSL as an outpatient, and he returned to normal life without exacerbation of the heart failure. There are similar reports showing that corticosteroids are effective for skeletal muscle improvement in Duchenne muscular dystrophy; however, their effectiveness for heart failure has been rarely reported. We experienced a case of Becker muscular dystrophy in which corticosteroid therapy was effective for refractory heart failure.

  5. TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Alyson A. Fiorillo

    2015-09-01

    Full Text Available The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability. In muscle from Becker patients sharing the same exon 45–47 in-frame deletion, dystrophin levels negatively correlate with microRNAs predicted to target dystrophin. Seven microRNAs inhibit dystrophin expression in vitro, and three are validated in vivo (miR-146b/miR-374a/miR-31. microRNAs are expressed in dystrophic myofibers and increase with age and disease severity. In exon-skipping-treated mdx mice, microRNAs are significantly higher in muscles with low dystrophin rescue. TNF-α increases microRNA levels in vitro whereas NFκB inhibition blocks this in vitro and in vivo. Collectively, these data show that microRNAs contribute to variable dystrophin levels in muscular dystrophy. Our findings suggest a model where chronic inflammation in distinct microenvironments induces pathological microRNAs, initiating a self-sustaining feedback loop that exacerbates disease progression.

  6. Ways of Telling About Society. Howard S. Becker in Conversation With Reiner Keller

    Directory of Open Access Journals (Sweden)

    Howard S. Becker

    2016-04-01

    Full Text Available In the following conversation, Howard S. BECKER talks about his lifelong travel with and between sociology and jazz music, his professional training as a sociologist, the hazards of a career, and his involvement with photography and performance. He reflects on the different ways used by artists and sociologists to tell solid stories about social phenomena, and tells a compelling account in its own right about the methodology of sound sociological field work and case study research. By explaining core concepts of his sociological perspective (such as the concept of labeling and "doing things together" and referring to concrete research examples, BECKER in all modesty fully engages with what could be called today's sociological imagination, leaving narrow disciplinary constraints behind in order to explore society with curiosity, using methodologically sensible but nevertheless refreshing approaches. The audio file is accessible from http://dx.doi.org/10.5281/zenodo.49829. URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1602122

  7. Dos trágicas trombosis puerperales: Paula Modersohn-Becker y María Estuardo

    Directory of Open Access Journals (Sweden)

    Julio Montes-Santiago

    2018-03-01

    Full Text Available Se recuerdan los casos de embolismo pulmonar fatal y trombosis puerperal con dolorosas secuelas, respectivamente, de la pintora alemana Paula Modersohn-Becker y de la reina de Escocia María Estuardo y se comenta su pertinencia dado el repunte moderno de la mortalidad materna en algunos países por dicho proceso.

  8. Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers

    NARCIS (Netherlands)

    Schade van Westrum, Steven; Dekker, Lukas; de Haan, Rob; Endert, Erik; Ginjaar, Ieke; de Visser, Marianne; van der Kooi, Anneke

    2013-01-01

    Cardiomyopathy is reported in Duchenne and Becker muscle dystrophy patients and female carriers. Brain Natriuretic peptide (BNP) is a hormone produced mainly by ventricular cardiomyocytes and its production is up regulated in reaction to increased wall stretching. N-terminal-proBNP (NT-proBNP) has

  9. DGGE based whole-gene mutation scanning of the dystrophlin gene in Duchenne and Becker muscular dystrophy patients

    NARCIS (Netherlands)

    Hofstra, RMW; Mulder, IM; Vossen, R; de Koning-Gans, PAM; Kraak, M; Ginjaar, IB; van der Hout, AH; Bakker, E; Buys, CHCM; van Essen, AJ; den Dunnen, JT

    2004-01-01

    Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two,thirds of DMD patients, with similar to60% carrying deletions and 5-10% carrying duplications. Most of the remaining 30-35% of patients are

  10. Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers.

    Science.gov (United States)

    Schade van Westrum, Steven; Dekker, Lukas; de Haan, Rob; Endert, Erik; Ginjaar, Ieke; de Visser, Marianne; van der Kooi, Anneke

    2013-07-16

    Cardiomyopathy is reported in Duchenne and Becker muscle dystrophy patients and female carriers. Brain Natriuretic peptide (BNP) is a hormone produced mainly by ventricular cardiomyocytes and its production is up regulated in reaction to increased wall stretching. N-terminal-proBNP (NT-proBNP) has been shown to be a robust laboratory parameter to diagnose and monitor cardiac failure, and it may be helpful to screen for asymptomatic left ventricular dysfunction. Therefore we tested whether NT-proBNP can distinguish patients with Duchenne or Becker muscular dystrophy patients and carriers of a dystrophin mutation with a dilated cardiomyopathy from those without. In a cohort of Duchenne and Becker muscle dystrophy patients (n = 143) and carriers (n = 219) NT-proBNP was measured, and echocardiography was performed to diagnose dilated cardiomyopathy (DCM). In total sixty-one patients (17%) fulfilled the criteria for DCM, whereas 283 patients (78%) had an elevated NT-pro BNP. The sensitivity of NT-proBNP for DCM in patients or carriers was 85%, the specificity 23%, area under the ROC-curve = 0.56. In the specified subgroups there was also no association. Measurement of NT-pro BNP in patients suffering from Duchenne or Becker muscular dystrophy and carriers does not distinguish between those with and without dilated cardiomyopathy.

  11. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands : a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, Marianne

    1999-01-01

    Background Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

  12. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, E. M.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; Leschot, N. J.; van Essen, A. J.; Brunner, H. G.; van der Wouw, P. A.; Wilde, A. A.; de Visser, M.

    1999-01-01

    BACKGROUND: Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

  13. Investigation of the biosynthesis in Achillea millefolium ssp. collina Becker using radioactive isotopes

    International Nuclear Information System (INIS)

    Verzarne Petri, G.; Shalaby El-Sayed, A.

    1979-01-01

    The biosynthesis in Achillea millefolium ssp. collina Becker was studied using CH 3 - 14 COONa and 14 CH 3 - COONa precursors. It has been found that CH 3 - 14 COONa incorporates more slowly and in lower rate into the biosynthetic pathway of essential oil than 14 CH 3 - COONa. The incorporation of both demonstrates the oil forming ability of herb and flowers. The process is more emphasized in the flower out of the organs of the plants. Further on it was stated that the biosynthesis leads to bicyclic α-pinene and borneol through some aliphatic and cyclic monoterpenes, while eucalyptole (cineol) as an oxydation product appears in an early stage. Of sesquiterpenes the caryophyllene procedes the formation of camazulene. (author)

  14. Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy

    Science.gov (United States)

    Lo, Ivan F. M.; Cherk, Sharon W. W.; Cheng, Wai Wai; Fung, Eva L. W.; Yeung, Wai Lan; Ngan, Mary; Lee, Wing Cheong; Kwong, Ling; Wong, Suet Na; Ma, Che Kwan; Tai, Shuk Mui; Ng, Grace S. F.; Wu, Shun Ping; Wong, Virginia C. N.

    2015-01-01

    The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower. PMID:28503591

  15. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.

    Science.gov (United States)

    Wood, Molly F; Hughes, Sarah C; Hache, Lauren P; Naylor, Edwin W; Abdel-Hamid, Hoda Z; Barmada, M Michael; Dobrowolski, Steven F; Stickler, David E; Clemens, Paula R

    2014-06-01

    Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Copyright © 2013 Wiley Periodicals, Inc.

  16. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I.

    Science.gov (United States)

    Løkken, Nicoline; Hedermann, Gitte; Thomsen, Carsten; Vissing, John

    2016-09-01

    We investigated whether a linear relationship between muscle strength and cross-sectional area (CSA) is preserved in calf muscles of patients with Becker muscular dystrophy (BMD, n = 14) and limb-girdle type 2I muscular dystrophy (LGMD2I, n = 11), before and after correcting for muscle fat infiltration. The Dixon magnetic resonance imaging technique was used to quantify fat and calculate a fat-free contractile CSA. Strength was assessed by dynamometry. Muscle strength/CSA relationships were significantly lower in patients versus controls. The strength/contractile-CSA relationship was still severely lowered in BMD, but was almost normalized in LGMD2I. Our findings suggest close to intact contractile properties in LGMD2I, which are severely disrupted in BMD. Ann Neurol 2016;80:466-471. © 2016 American Neurological Association.

  17. Serum creatinine level: a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy.

    Science.gov (United States)

    Zhang, Huili; Zhu, Yuling; Sun, Yiming; Liang, Yingyin; Li, Yaqin; Zhang, Yu; Deng, Langhui; Wen, Xingxuan; Zhang, Cheng

    2015-01-01

    To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r = -0.793) and partial correlation analysis after adjustment for age, height, and weight (r = -0.791; both P Becker muscular dystrophy (BMD) patients than Duchenne muscular dystrophy (DMD) patients at ages 4, 5, 7, and 9 yr (all P < 0.0125). After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β = 7.140,  t = 6.277,  P < 0.01). Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

  18. Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction

    Directory of Open Access Journals (Sweden)

    Dastur P

    2004-01-01

    Full Text Available The diagnosis of Duchenna Muscular Dystrophy (DMD and Becker Muscular Dystorphy (BMD is mainly based on clinical profile, serum CPK values, muscle biopsy and immunostaining for dystrophin. This was done in 100 unrelated patients using 19 exons including the promoter region in two sets of multiplex polymerase chain reaction (PCR. These primers amplify most of the exons in the deletion prone ′hot spot′ regions allowing determinations of deletion end points. Intragenic deletions were detected in 74 patients indicating that the use of PCR- based assays will allow deletion detection help in prenatal diagnosis for most of the DMD/BMD patients. The frequency of deletions observed in the present study was 74%.

  19. Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco

    Directory of Open Access Journals (Sweden)

    Hanane Bellayou

    2009-01-01

    Full Text Available Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.

  20. Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient.

    Science.gov (United States)

    Alliod, Barbara A; Ash, Rebecca A

    2016-12-01

    More patients suffering with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are presenting to perianesthesia settings for emergent and nonemergent treatment and care. A group of collaborative health care providers at Rush University Medical Center in Chicago developed a multidisciplinary DMD/BMD Task Force to study this disorder and create a set of guidelines to aid those engaging in the planning, execution of care, and recovery of this unique population in the perianesthesia setting. Attention to detail, well-executed preplanning, meticulous awareness of the patient, and prearranged implementation and intervention has proven to offset potential problems and complications and is the key to a successful perianesthesia period. Copyright © 2016 American Society of PeriAnesthesia Nurses. Published by Elsevier Inc. All rights reserved.

  1. Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.

    Science.gov (United States)

    Straathof, Chiara S M; Van Heusden, Dave; Ippel, Pieternella F; Post, Jan G; Voermans, Nicol C; De Visser, Marianne; Brusse, Esther; Van Den Bergen, Janneke C; Van Der Kooi, Anneke J; Verschuuren, Jan J G M; Ginjaar, Hendrika B

    2016-01-01

    The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995. All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated. If the phenotype was compatible with BMD, and no deletions or duplications were detected, DNA samples were screened for small mutations. In 79 of 185 referrals, no mutation was found. Analysis could be performed on 31 DNA samples. Seven different mutations, including 3 novel ones, were found. Long-term clinical follow-up is described. Refining DNA analysis in previously undiagnosed cases can identify mutations in the DMD gene and provide genetic diagnosis of BMD. A delayed diagnosis can still be valuable for the proband or the relatives of BMD patients. © 2015 Wiley Periodicals, Inc.

  2. Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.

    Science.gov (United States)

    Greer, Kane; Mizzi, Kayla; Rice, Emily; Kuster, Lukas; Barrero, Roberto A; Bellgard, Matthew I; Lynch, Bryan J; Foley, Aileen Reghan; O Rathallaigh, Eoin; Wilton, Steve D; Fletcher, Sue

    2015-07-01

    We report a dystrophinopathy patient with an in-frame deletion of DMD exons 45-47, and therefore a genetic diagnosis of Becker muscular dystrophy, who presented with a more severe than expected phenotype. Analysis of the patient DMD mRNA revealed an 82 bp pseudoexon, derived from intron 44, that disrupts the reading frame and is expected to yield a nonfunctional dystrophin. Since the sequence of the pseudoexon and canonical splice sites does not differ from the reference sequence, we concluded that the genomic rearrangement promoted recognition of the pseudoexon, causing a severe dystrophic phenotype. We characterized the deletion breakpoints and identified motifs that might influence selection of the pseudoexon. We concluded that the donor splice site was strengthened by juxtaposition of intron 47, and loss of intron 44 silencer elements, normally located downstream of the pseudoexon donor splice site, further enhanced pseudoexon selection and inclusion in the DMD transcript in this patient.

  3. Health services received by individuals with duchenne/becker muscular dystrophy.

    Science.gov (United States)

    Pandya, Shree K; Campbell, Kim A; Andrews, Jennifer G; Meaney, F John; Ciafaloni, Emma

    2016-02-01

    Anecdotal reports from families and care providers suggest a wide variation in services received by individuals with Duchenne/Becker muscular dystrophy (DBMD). We documented the type and frequency of health services received by individuals with DBMD using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) interview data released in June 2012. Interviews with eligible caregivers from 5 sites (Arizona, Colorado, Georgia, Iowa, and western New York) were conducted from April 2007 to March 2012. Two hundred ninety-six caregivers (66% of those contactable) participated in the interview. There were significant differences among sites in the specialists seen and services received. Concurrence with cardiac recommendations was higher than that with respiratory recommendations. The results of this survey support and quantify the anecdotal reports from families and care providers regarding the disparities in services received by individuals with DBMD. It remains to be determined whether these differences affect outcomes. © 2015 Wiley Periodicals, Inc.

  4. Late-onset Becker muscular dystrophy: Refining the clinical features and electrophysiological findings.

    Science.gov (United States)

    Beltran Papsdorf, Tania; Howard, James F; Chahin, Nizar

    2015-11-01

    The aim of this study was to characterize a unique distribution of muscle involvement in sporadic Becker muscle dystrophy (BMD). Retrospective chart review, clinical examination, electrophysiological studies, cardiac testing, and genetic testing were performed in 5 patients. Predominant weakness and atrophy of biceps brachii, hip adduction, and quadriceps muscles was noted along with calf and extensor forearm hypertrophy. Finger flexor muscles were severely weak in 3 of 5 patients, a feature that could lead to a misdiagnosis of inclusion body myositis. Creatinine kinase was only mildly elevated in most patients. Electromyography was abnormal in all patients. Muscle biopsy in 1 patient demonstrated normal immunostaining for dystrophin. We found a unique and uniform distribution of muscle involvement in 5 sporadic cases of BMD. Recognizing these features is important for differentiating it from other myopathies that may have similar features and avoids unnecessary invasive procedures such as muscle biopsy. © 2015 Wiley Periodicals, Inc.

  5. Extensive Functional Evaluations to Monitor Aerobic Training in Becker Muscular Dystrophy: A Case Report.

    Science.gov (United States)

    Tramonti, Caterina; Rossi, Bruno; Chisari, Carmelo

    2016-06-13

    Low-intensity aerobic training seems to have positive effects on muscle strength, endurance and fatigue in Becker Muscular Dystrophy (BMD) patients. We describe the case of a 33-year old BMD man, who performed a four-week aerobic training. Extensive functional evaluations were executed to monitor the efficacy of the rehabilitative treatment. Results evidenced an increased force exertion and an improvement in muscle contraction during sustained exercise. An improvement of walk velocity, together with agility, endurance capacity and oxygen consumption during exercise was observed. Moreover, an enhanced metabolic efficiency was evidenced, as shown by reduced lactate blood levels after training. Interestingly, CK showed higher levels after the training protocol, revealing possible muscle damage. In conclusion, aerobic training may represent an effective method improving exercise performance, functional status and metabolic efficiency. Anyway, a careful functional assessment should be taken into account as a useful approach in the management of the disease's rehabilitative treatment.

  6. Extensive functional evaluations to monitor aerobic training in Becker Muscular Dystrophy: A case report

    Directory of Open Access Journals (Sweden)

    Caterina Tramonti

    2016-06-01

    Full Text Available Low-intensity aerobic training seems to have positive effects on muscle strength, endurance and fatigue in Becker Muscular Dystrophy (BMD patients. We describe the case of a 33-year old BMD man, who performed a four-week aerobic training. Extensive functional evaluations were executed to monitor the efficacy of the rehabilitative treatment. Results evidenced an increased force exertion and an improvement in muscle contraction during sustained exercise. An improvement of walk velocity, together with agility, endurance capacity and oxygen consumption during exercise was observed. Moreover, an enhanced metabolic efficiency was evidenced, as shown by reduced lactate blood levels after training. Interestingly, CK showed higher levels after the training protocol, revealing possible muscle damage. In conclusion, aerobic training may represent an effective method improving exercise performance, functional status and metabolic efficiency. Anyway, a careful functional assessment should be taken into account as a useful approach in the management of the disease’s rehabilitative treatment.

  7. Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction

    Directory of Open Access Journals (Sweden)

    Dastur R

    2003-01-01

    Full Text Available The diagnosis of Duchenne Muscular Dystrophy (DMD and Becker Muscular Dystrophy (BMD is mainly based on clinical profile, serum CPK values, muscle biopsy and immunostaining for dystrophin. Most recent and accurate method for diagnosing DMD/BMD is by detection of mutations in the DMD gene. This was done in 100 unrelated patients using 19 exons including the promoter region in two sets of multiplex polymerase chain reaction (PCR. These primers amplify most of the exons in the deletion prone ′hotspot′ regions allowing determination of deletion end point. Intragenic deletions were detected in 74 patients indicating that the use of PCR-based assays will allow deletion detection help in prenatal diagnosis for most of the DMD/BMD patients. The frequency of deletions observed in the present study was 74%.

  8. Correlates of care for young men with Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Andrews, Jennifer G; Davis, Melinda F; Meaney, F John

    2014-01-01

    In progressive conditions, such as Duchenne and Becker muscular dystrophy (DBMD), the need for care may outpace care use. We examined correlates that contribute to utilization of needed care. Structured interviews were conducted on use of care among 34 young men with DBMD who were born before 1982. Disease severity, per capita income, and presence of other relatives with DBMD predicted greater use of services. Race/ethnicity, acculturation, and level of caregiver education did not significantly predict service utilization. We identified disparities in receipt of healthcare and related services in adult men with DBMD that can affect quality of life. Despite the high disease severity identified in this population, these men utilized only half of the services available to individuals with significant progressive conditions. Providers should be aware of low service utilization and focus on awareness and assistance to ensure access to available care. Copyright © 2013 Wiley Periodicals, Inc.

  9. Relatively low proportion of dystrophin gene deletions in Israeili Duchenne and Becker muscular dystrophy patients

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    Shomrat, R.; Gluck, E.; Legum, C.; Shiloh, Y. [Tel Aviv Univ. (Israel)

    1994-02-15

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene. The most common mutations in western populations are deletions that are spread non-randomly throughout the gene. Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD/BMD patients showed deletions in 23 (37%). This proportion is significantly lower than that found in European and North American populations (55-65%). Seventy-eight percent of the deletions were confined to exons 44-52, half of these exons 44-45, and the remaining 22% to exons 1 and 19. There was no correlation between the size of the deletion and the severity of the disease. All the deletions causing frameshift resulted in the DMD phenotypes. 43 refs., 1 fig., 1 tab.

  10. Dialogue avec Howard Becker : comment parler de la société ?

    Directory of Open Access Journals (Sweden)

    Jacques Hamel

    2010-12-01

    Full Text Available Il n’est rien de plus intéressant que de lire le résumé d’un livre écrit par son propre auteur, surtout quand ce dernier a pour nom Howard Becker, l’esprit libre et imaginatif de la sociologie américaine. En effet, la densité et la richesse de Comment parler de la société ? – comme de ses autres écrits – peuvent avoir déjoué l’attention des lecteurs et les avoir incités à négliger certaines thèses chères à l’auteur que celui-ci veut mettre en exergue en s’employant à en donner le compte rendu...

  11. Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia.

    Science.gov (United States)

    Atehortúa, Sara C; Lugo, Luz H; Ceballos, Mateo; Orozco, Esteban; Castro, Paula A; Arango, Juan C; Mateus, Heidi E

    2018-03-09

    To determine the cost-effectiveness ratio of different courses of action for the diagnosis of Duchenne or Becker muscular dystrophy in Colombia. The cost-effectiveness analysis was performed from the Colombian health system perspective. Decision trees were constructed, and different courses of action were compared considering the following tests: immunohistochemistry (IHC), Western blot (WB), multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification (MLPA), and the complete sequencing of the dystrophin gene. The time horizon matched the duration of sample extraction and analysis. Transition probabilities were obtained from a systematic review. Costs were constructed with a type-case methodology using the consensus of experts and the valuation of resources from consulting laboratories and the 2001 Social Security Institute cost manual. Deterministic sensitivity and scenario analyses were performed with one or more unavailable alternatives. Costs were converted from Colombian pesos to US dollars using the 2014 exchange rate. In the base case, WB was the dominant strategy, with a cost of US $419.07 and a sensitivity of 100%. This approach remains the dominant strategy down to a 98.2% sensitivity and while costs do not exceed US $837.38. If WB was not available, IHC had the best cost-effectiveness ratio, followed by MLPA and sequencing. WB is a cost-effective alternative for the diagnosis of patients suspected of having Duchenne or Becker muscular dystrophy in the Colombian health system. The IHC test is rated as the second-best detection method. If these tests are not available, MLPA followed by sequencing would be the most cost-effective alternative. Copyright © 2018. Published by Elsevier Inc.

  12. Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach Distrofia muscular de Duchenne e Becker: abordagem molecular e imuno-histoquímica

    Directory of Open Access Journals (Sweden)

    Aline Andrade Freund

    2007-03-01

    Full Text Available Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma (discontinuous immunostains. The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy. Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.As distrofias musculares de Duchenne (DMD e de Becker (DMB são doenças causadas por mutação no gene da distrofina. Foram estudados 106 casos com a suspeita diagnóstica de DMD/BMD com a analise de 20 exons do gene da distrofina no sangue e biópsia muscular com imuno-histoquímica para distrofina em alguns casos. Em 71,7% dos casos foi encontrada deleção em pelo menos um dos exons, sendo que 68% das deleções localizam-se na região 3' hot spot. Foram encontradas deleções em 81,5% dos DMD e em todos os BMD, sendo que os sem deleção tinham deficiência de distrofina, incluindo a mulher com DMD. As portadoras sintomáticas não tinham deleções mas anormalidades na distribuição da distrofina no sarcolema. Os outros casos sem deleção, com auxilio da

  13. A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

    Science.gov (United States)

    Banihani, Rudaina; Baskin, Berivan; Halliday, William; Kobayashi, Jeff; Kawamura, Anne; McAdam, Laura; Ray, Peter N; Yoon, Grace

    2016-04-01

    Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy. The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ A mutation in DMD. Dystrophinopathy may be associated with predominantly cognitive impairment and neurobehavioral disorder, and should be considered in the differential diagnosis of unexplained cognitive or psychiatric disturbance in males.

  14. Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial.

    Science.gov (United States)

    Silva, Marly Conceição; Magalhães, Tiago Augusto; Meira, Zilda Maria Alves; Rassi, Carlos Henrique Reis Esselin; Andrade, Amanda Cristina de Souza; Gutierrez, Paulo Sampaio; Azevedo, Clerio Francisco; Gurgel-Giannetti, Juliana; Vainzof, Mariz; Zatz, Mayana; Kalil-Filho, Roberto; Rochitte, Carlos Eduardo

    2017-02-01

    In Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), interventions reducing the progression of myocardial disease could affect survival. To assess the effect of early angiotensin-converting enzyme (ACE) inhibitor therapy in patients with normal left ventricular function on the progression of myocardial fibrosis (MF) identified on cardiovascular magnetic resonance (CMR). A randomized clinical trial conducted in 2 centers included 76 male patients with DMD or BMD undergoing 2 CMR studies with a 2-year interval for ventricular function and MF assessment. In a non-intent-to-treat trial, 42 patients with MF and normal left ventricular ejection fraction (LVEF) were randomized (1:1) to receive or not receive ACE inhibitor therapy. The study was conducted from June 26, 2009, to June 30, 2012. Data analysis was performed from June 30, 2013, to October 3, 2016. Randomization (1:1) to receive or not receive ACE inhibitor therapy. Primary outcome was MF progression from baseline to the 2-year CMR study. Of the 76 male patients included in the study, 70 had DMD (92%) and 6 had BMD (8%); mean (SD) age at baseline was 13.1 (4.4) years. Myocardial fibrosis was present in 55 patients (72%) and LV systolic dysfunction was identified in 13 patients (24%). Myocardial fibrosis at baseline was an independent indicator of lower LVEF at follow-up (coefficient [SE], -0.16 [0.07]; P = .03). Among patients with MF and preserved LVEF (42 [55%]), those randomized (21 patients in each arm) to receive ACE inhibitors demonstrated slower MF progression compared with the untreated group (mean [SD] increase of 3.1% [7.4%] vs 10.0% [6.2%] as a percentage of LV mass; P = .001). In multivariate analysis, ACE inhibitor therapy was an independent indicator of decreased MF progression (coefficient [SE], -4.51 [2.11]; P = .04). Patients with MF noted on CMR had a higher probability of cardiovascular events (event rate, 10 of 55 [18.2%] vs 0 of 21 [0%]; log-rank P = .04

  15. Becker muscular dystrophy severity is linked to the structure of dystrophin.

    Science.gov (United States)

    Nicolas, Aurélie; Raguénès-Nicol, Céline; Ben Yaou, Rabah; Ameziane-Le Hir, Sarah; Chéron, Angélique; Vié, Véronique; Claustres, Mireille; Leturcq, France; Delalande, Olivier; Hubert, Jean-François; Tuffery-Giraud, Sylvie; Giudice, Emmanuel; Le Rumeur, Elisabeth

    2015-03-01

    In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of DMD. We hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity observed in Becker patients and we studied four prevalent in-frame exon deletions, i.e. Δ45-47, Δ45-48, Δ45-49 and Δ45-51. Molecular homology modelling revealed that the proteins corresponding to deletions Δ45-48 and Δ45-51 displayed a similar structure (hybrid repeat) than the wild-type dystrophin, whereas deletions Δ45-47 and Δ45-49 lead to proteins with an unrelated structure (fractional repeat). All four proteins in vitro expressed in a fragment encoding repeats 16-21 were folded in α-helices and remained highly stable. Refolding dynamics were slowed and molecular surface hydrophobicity were higher in fractional repeat containing Δ45-47 and Δ45-49 deletions compared with hybrid repeat containing Δ45-48 and Δ45-51 deletions. By retrospectively collecting data for a series of French BMD patients, we showed that the age of dilated cardiomyopathy (DCM) onset was delayed by 11 and 14 years in Δ45-48 and Δ45-49 compared with Δ45-47 patients, respectively. A clear trend toward earlier wheelchair dependency (minimum of 11 years) was also observed in Δ45-47 and Δ45-49 patients compared with Δ45-48 patients. Muscle dystrophin levels were moderately reduced in most patients without clear correlation with the deletion type. Disease progression in BMD patients appears to be dependent on the deletion itself and associated with a specific structure of dystrophin at the deletion site. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Longitudinal 2-point dixon muscle magnetic resonance imaging in becker muscular dystrophy.

    Science.gov (United States)

    Bonati, Ulrike; Schmid, Maurice; Hafner, Patricia; Haas, Tanja; Bieri, Oliver; Gloor, Monika; Fischmann, Arne; Fischer, Dirk

    2015-06-01

    Quantitative MRI techniques detect disease progression in myopathies more sensitively than muscle function measures or conventional MRI. To date, only conventional MRI data using visual rating scales are available for measurement of disease progression in Becker muscular dystrophy (BMD). In 3 patients with BMD (mean age 36.8 years), the mean fat fraction (MFF) of the thigh muscles was assessed by MRI at baseline and at 1-year follow-up using a 2-point Dixon approach (2PD). The motor function measurement scale (MFM) was used for clinical assessment. The mean MFF of all muscles at baseline was 61.6% (SD 7.6). It increased by 3.7% to 65.3% (SD 4.7) at follow-up. The severity of muscle involvement varied between various muscle groups. As in other myopathies, 2PD can quantify fatty muscle degeneration in BMD and can detect disease progression in a small sample size and at relatively short imaging intervals. © 2015 Wiley Periodicals, Inc.

  17. Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy.

    Science.gov (United States)

    Peay, Holly L; Meiser, Bettina; Kinnett, Kathleen; Tibben, Aad

    2018-02-01

    Care guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of individuals with DBMD. Two hundred and five mothers completed an online survey. More than 50% endorsed unmet needs for managing uncertainty about the future and managing DBMD fears. Higher levels of unmet need were associated with less disease progression/earlier stage of DBMD (rho = -0.166 p = 0.02). Twenty-one percent regularly used respite care and 57% worried about allowing others to care for their child. Highly-endorsed care facilitators included partner relationships (63%), child's approach to life (59%), and family relationships (49%). Our findings highlight the importance of psychological and social support for caregivers. Starting when children are young, clinicians should assess caregivers' unmet psychological needs, particularly uncertainty and fear. Exploring needs and facilitators may allow clinics to target and customize interventions that build upon existing strengths and supports. Our findings have implications for efforts to promote early diagnosis and newborn screening, in that increased needs in mothers of younger children should be anticipated and built into counseling. Further research can assess whether and how unmet needs change as new therapies become available.

  18. Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

    Science.gov (United States)

    Todeschini, Alice; Gualandi, Francesca; Trabanelli, Cecilia; Armaroli, Annarita; Ravani, Anna; Fanin, Marina; Rota, Silvia; Bello, Luca; Ferlini, Alessandra; Pegoraro, Elena; Padovani, Alessandro; Filosto, Massimiliano

    2016-10-01

    We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.1150-3C>G substitution in the DMD gene, affecting the intron 10 acceptor splice site and causing exon 11 skipping and an out-of-frame transcript. However, protein of normal molecular weight but in reduced amounts was observed on Western Blot analysis. Reverse transcription analysis on muscle RNA showed production, via alternative splicing, of a transcript missing exon 11 as well as a low abundant full-length transcript which is enough to avoid the severe Duchenne phenotype. Our study showed that a reduced amount of full length dystrophin leads to a mild form of Becker muscular dystrophy. These results confirm earlier findings that low amounts of dystrophin can be associated with a milder phenotype, which is promising for therapies aiming at dystrophin restoration. Copyright © 2016 Elsevier B.V. All rights reserved.

  19. Serum Creatinine Level: A Supplemental Index to Distinguish Duchenne Muscular Dystrophy from Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Huili Zhang

    2015-01-01

    Full Text Available Background. To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn level reflects disease severity. Methods. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Results. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r=-0.793 and partial correlation analysis after adjustment for age, height, and weight (r=-0.791; both P<0.01. Serum Crn level was significantly higher in patients with in-frame than out-of-frame mutations (Z=-4.716, P<0.01 and in Becker muscular dystrophy (BMD patients than Duchenne muscular dystrophy (DMD patients at ages 4, 5, 7, and 9 yr (all P<0.0125. After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β=7.140, t=6.277, P<0.01. Conclusions. Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

  20. Cardiac considerations in the operative management of the patient with Duchenne or Becker muscular dystrophy.

    Science.gov (United States)

    Cripe, Linda H; Tobias, Joseph D

    2013-09-01

    Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) is a progressive multisystem neuromuscular disorder. In addition to the skeletal muscle, the myocardium in the DMD/BMD patient is dystrophin deficient which results in a progressive cardiomyopathy. The myopathic myocardium poses significant risk of increased morbidity and mortality at the time of major surgical procedures. Careful attention must be given to the DMD/BMD patient during the intraoperative and postoperative period. Anesthesia selection is critical and anesthetics should be avoided which have been shown to be harmful in this patient population. Preanesthesia assessment should include cardiac consultation and detailed preoperative evaluation. Intraoperative management needs to insure that the weakened myocardium is not compromised by physiologic changes such as hypotension or major fluid shifts. Finally, attention to the cardiac status of the patient must continue into the postoperative period. The surgical care of the DMD/BMD patient requires a multispecialty approach to insure operative success. © 2013 John Wiley & Sons Ltd.

  1. Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.

    Science.gov (United States)

    Ramos, Edwardo; Conde, José G; Berrios, Rafael Arias; Pardo, Sherly; Gómez, Omar; Mas Rodríguez, Manuel F

    2016-05-27

    Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse. To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients. Patients selected for data analysis matched "definite", "probable" and "possible" case definitions as established by MD STARnet. A total of 141 patients matched the inclusion criteria, with 64.5% and 35.5% being categorized into DMD and BMD, respectively. DMD and BMD prevalence in Puerto Rico was estimated at 5.18 and 2.84 per 100,000 males, respectively. Deletion was the most common form of mutation (66.7%) in the dystrophin gene, with exons in segment 45 to 47 being the most frequently affected. This is the first report of the prevalence and genetic profile characteristics of DMD and BMD in Puerto Rico. Prevalence of DMD was similar to that reported worldwide, while prevalence of BMD was higher. Genetic profile was consistent with that reported in the literature.

  2. [Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy].

    Science.gov (United States)

    Magot, A; Mercier, S; Péréon, Y

    2015-12-01

    Becker muscular dystrophy (BMD) was first described in 1955 and linked to the DMD gene in 1987. Compared to Duchenne muscular dystrophy (DMD), clinical onset of BMD usually occurs after the age of 12 and wheelchair is required after the age of 16. BMD is characterized by generalized weakness first affecting limb girdle muscles, hypertrophy of the calves and cardiomyopathy in males. Some patients have only mild symptoms such as cramps or elevated serum creatine kinases (SCK) throughout all their lives. SCK levels are usually elevated. Muscle biopsy (immunohistochemistry or immunoblotting) shows a dystrophic pattern with abnormal dystrophin staining. Diagnosis is confirmed by DMD gene sequencing. Deletions or duplications of one or several exons are identified in the majority of cases. A multidisciplinary approach is recommended for the care management of these patients with a particular attention to the cardiomyopathy, which is typically responsible for death but can be prevented by specific treatment. X-linked dilated cardiomyopathies linked to DMD gene are a phenotypic continuum of BMD. Some female carriers of DMD mutations exhibit clinical symptoms of variable severity, often milder and beginning later than in males. The cardiomyopathy is the most frequent feature that should be especially monitored in these patients. Genetic counselling should be systematically proposed. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  3. Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.

    Science.gov (United States)

    Imbornoni, Lauren; Price, Elinora T; Andrews, Jennifer; Meaney, F John; Ciafaloni, Emma; Cunniff, Christopher

    2014-11-01

    Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood. From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to age 9 years were identified. The median age at diagnosis was 8.3 years, and the median interval from first symptoms to diagnosis was 1.35 years. Of the nine female heterozygotes, four had a positive family history, seven had intellectual disability and five had at least one mental health disorder. Mental health concerns included attention deficit hyperactivity disorder (ADHD), autism spectrum features, bipolar disorder, and depression. The frequency of intellectual and mental health problems in this group is higher than previously reported for affected males and for symptomatic females. These findings may have implications for diagnosis of early manifesting heterozygotes and for their health supervision. © 2014 Wiley Periodicals, Inc.

  4. A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.

    Science.gov (United States)

    Mendell, Jerry R; Sahenk, Zarife; Malik, Vinod; Gomez, Ana M; Flanigan, Kevin M; Lowes, Linda P; Alfano, Lindsay N; Berry, Katherine; Meadows, Eric; Lewis, Sarah; Braun, Lyndsey; Shontz, Kim; Rouhana, Maria; Clark, Kelly Reed; Rosales, Xiomara Q; Al-Zaidy, Samiah; Govoni, Alessandra; Rodino-Klapac, Louise R; Hogan, Mark J; Kaspar, Brian K

    2015-01-01

    Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations. Phenotype is variable with loss of ambulation in late teenage or late mid-life years. There is currently no treatment for this condition. In this BMD proof-of-principle clinical trial, a potent myostatin antagonist, follistatin (FS), was used to inhibit the myostatin pathway. Extensive preclinical studies, using adeno-associated virus (AAV) to deliver follistatin, demonstrated an increase in strength. For this trial, we used the alternatively spliced FS344 to avoid potential binding to off target sites. AAV1.CMV.FS344 was delivered to six BMD patients by direct bilateral intramuscular quadriceps injections. Cohort 1 included three subjects receiving 3 × 10(11) vg/kg/leg. The distance walked on the 6MWT was the primary outcome measure. Patients 01 and 02 improved 58 meters (m) and 125 m, respectively. Patient 03 showed no change. In Cohort 2, Patients 05 and 06 received 6 × 10(11) vg/kg/leg with improved 6MWT by 108 m and 29 m, whereas, Patient 04 showed no improvement. No adverse effects were encountered. Histological changes corroborated benefit showing reduced endomysial fibrosis, reduced central nucleation, more normal fiber size distribution with muscle hypertrophy, especially at high dose. The results are encouraging for treatment of dystrophin-deficient muscle diseases.

  5. Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy.

    Science.gov (United States)

    Pandya, Shree; Andrews, Jennifer; Campbell, Kim; Meaney, F John

    2016-01-01

    To document use of rehabilitative technology among individuals with Duchenne/Becker muscular dystrophy (DBMD) among sites of the Muscular Dystrophy Surveillance, Tracking, and Research network (MD STARnet). Data from 362 caregivers who participated in the MD STARnet caregiver interview between April 2006 and March 2012 (54.7% response rate) were analyzed to assess the type, frequency and duration of use of assistive technology. Caregiver reports of technology use by individuals with DBMD across five MD STARnet sites in the US demonstrated significant regional differences in the proportion of individuals who had ever used night splints (36.9%-73.0%), standers (3.1%-22.2%) and scooters (10.7%-54.5%). Among individuals who used night splints 59.7% stopped using them at a mean age of 10.3 years after a mean duration of 2.9 years in spite of the current recommendation to continue using them through the non-ambulatory phase. Results of this comprehensive survey document the frequency of assistive device use by individuals with DBMD in the USA and also provides data on differences across the sites. Further research is needed to understand the reasons for and the impact of these differences on clinical outcomes and health related quality of life of individuals with DBMD.

  6. Body weight-supported training in Becker and limb girdle 2I muscular dystrophy.

    Science.gov (United States)

    Jensen, Bente R; Berthelsen, Martin P; Husu, Edith; Christensen, Sofie B; Prahm, Kira P; Vissing, John

    2016-08-01

    We studied the functional effects of combined strength and aerobic anti-gravity training in severely affected patients with Becker and Limb-Girdle muscular dystrophies. Eight patients performed 10-week progressive combined strength (squats, calf raises, lunges) and aerobic (walk/run, jogging in place or high knee-lift) training 3 times/week in a lower-body positive pressure environment. Closed-kinetic-chain leg muscle strength, isometric knee strength, rate of force development (RFD), and reaction time were evaluated. Baseline data indicated an intact neural activation pattern but showed compromised muscle contractile properties. Training (compliance 91%) improved functional leg muscle strength. Squat series performance increased 30%, calf raises 45%, and lunges 23%. Anti-gravity training improved closed-kinetic-chain leg muscle strength despite no changes in isometric knee extension strength and absolute RFD. The improved closed-kinetic-chain performance may relate to neural adaptation involving motor learning and/or improved muscle strength of other muscles than the weak knee extensors. Muscle Nerve 54: 239-243, 2016. © 2016 Wiley Periodicals, Inc.

  7. Calf muscle involvement in Becker muscular dystrophy: when size does not matter.

    Science.gov (United States)

    Monforte, Mauro; Mercuri, Eugenio; Laschena, Francesco; Ricci, Enzo; Tasca, Giorgio

    2014-12-15

    Calf hypertrophy is a common feature in Becker muscular dystrophy (BMD), and it is still debated to which extent fatty degeneration or true muscle hypertrophy account for it. We wanted to investigate the relative contribution of these two components using a simple image analysis approach and their possible correlation with disease severity. Twenty-nine BMD patients' MRI scans were analyzed. A semiquantitative visual score assessing fatty replacement of calf muscles (calf MRI score, CMS) was calculated and correlated with the cross sectional area (CSA) of lower leg posterior compartment muscles, digitally measured on acquired images. The correlation between CSA and CMS was not significant. CMS in contrast correlated with disease severity (p<0.001) while CSA did not (p=0.969). In BMD, a major contribution to calf hypertrophy is provided by real muscle hypertrophy rather than by fatty degeneration. CMS appears to be a potential surrogate marker of disease severity. Copyright © 2014 Elsevier B.V. All rights reserved.

  8. A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ki Hyun Doo

    2012-09-01

    Full Text Available An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L without overt weakness; based on the results, Becker muscular dystrophy (BMD was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed cardiomegaly (cardiothoracic ratio, 54%, and his electrocardiogram (ECG showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9% and ejection fraction (19%. Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.

  9. Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures.

    Science.gov (United States)

    Segura, Leal G; Lorenz, Jessica D; Weingarten, Toby N; Scavonetto, Federica; Bojanić, Katarina; Selcen, Duygu; Sprung, Juraj

    2013-09-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are associated with life-threatening perioperative complications, including rhabdomyolysis, hyperkalemia, and hyperthermia. Current recommendations contraindicate use of succinylcholine and volatile anesthetics; however, the latter recommendation remains controversial. To review the perioperative outcomes of patients with DMD and BMD. We reviewed records of patients with DMD or BMD who underwent anesthetic management at our institution from January 1990 through December 2011. We identified 47 patients (DMD, 37; BMD, 10) who underwent 117 anesthetic exposures (DMD, 101; BMD, 16). Volatile anesthetic agents were used 66 times (DMD, 59; BMD, 7). One patient with undiagnosed BMD received succinylcholine and developed acute rhabdomyolysis and hyperkalemic cardiac arrest. All other major complications were attributed to the procedure (i.e., large bleeding), to preexisting comorbidities (i.e., respiratory failure, cardiac disease), or to both. Use of succinylcholine in children with dystrophinopathy is contraindicated. These patients have significant comorbidities and are frequently undergoing extensive operations; complications related to these factors can develop, as evidenced by our series. These complications may occur with use of volatile and nonvolatile anesthetics. However, because most of our patients were older than 8 years at the time of surgery, our observation cannot be generalized to younger dystrophin-deficient children. © 2013 John Wiley & Sons Ltd.

  10. A burla do gênero: Cacilda Becker, a Mary Stuart de Pirassununga

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    Heloisa Pontes

    2004-06-01

    Full Text Available O artigo procura explicar as razões que levaram as atrizes brasileiras a conquistarem mais cedo do que em outros campos da produção cultural o "nome próprio" e tudo que dele decorre - notoriedade, prestígio e autoridade. Esse pressuposto é desenvolvido por meio do esquadrinhamento da morfologia corporal e da carreira fulgurante de Cacilda Becker (1921-1969. Transitando por personagens muito distintas, da rainha Mary Stuart ao menino Pega-Fogo, Cacilda triunfou porque elevou a alturas máximas a sua competência como atriz, em um contexto muito particular de renovação do teatro brasileiro. Nem bonita nem bem formada, em razão de sua origem social e da sua precária escolarização, marcada para sempre, e em suas palavras, "pela pobreza", Cacilda pertence ao time seleto das grandes atrizes que, fazendo de seus corpos o suporte privilegiado para a reconversão de experiências alheias, dominam as convenções teatrais a ponto de burlar constrangimentos sociais de classe, de gênero e de idade, infundindo às personagens uma pletora de significados novos e inesperados. Entender como isso aconteceu com Cacilda é o objetivo central do artigo.

  11. Identification of Neoceratitis asiatica (Becker) (Diptera: Tephritidae) based on morphological characteristics and DNA barcode.

    Science.gov (United States)

    Guo, Shaokun; He, Jia; Zhao, Zihua; Liu, Lijun; Gao, Liyuan; Wei, Shuhua; Guo, Xiaoyu; Zhang, Rong; Li, Zhihong

    2017-12-12

    Neoceratitis asiatica (Becker), which especially infests wolfberry (Lycium barbarum L.), could cause serious economic losses every year in China, especially to organic wolfberry production. In some important wolfberry plantings, it is difficult and time-consuming to rear the larvae or pupae to adults for morphological identification. Molecular identification based on DNA barcode is a solution to the problem. In this study, 15 samples were collected from Ningxia, China. Among them, five adults were identified according to their morphological characteristics. The utility of mitochondrial DNA (mtDNA) cytochrome c oxidase I (COI) gene sequence as DNA barcode in distinguishing N. asiatica was evaluated by analysing Kimura 2-parameter distances and phylogenetic trees. There were significant differences between intra-specific and inter-specific genetic distances according to the barcoding gap analysis. The uncertain larval and pupal samples were within the same cluster as N. asiatica adults and formed sister cluster to N. cyanescens. A combination of morphological and molecular methods enabled accurate identification of N. asiatica. This is the first study using DNA barcode to identify N. asiatica and the obtained DNA sequences will be added to the DNA barcode database.

  12. Evidence of Insulin Resistance and Other Metabolic Alterations in Boys with Duchenne or Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Maricela Rodríguez-Cruz

    2015-01-01

    Full Text Available Aim. Our aim was (1 to determine the frequency of insulin resistance (IR in patients with Duchenne/Becker muscular dystrophy (DMD/BMD, (2 to identify deleted exons of DMD gene associated with obesity and IR, and (3 to explore some likely molecular mechanisms leading to IR. Materials and Methods. In 66 patients with DMD/BMD without corticosteroids treatment, IR, obesity, and body fat mass were evaluated. Molecules involved in glucose metabolism were analyzed in muscle biopsies. Results show that 18.3%, 22.7%, and 68% were underweight, overweight, or obese, and with high adiposity, respectively; 48.5% and 36.4% presented hyperinsulinemia and IR, respectively. Underweight patients (27.3% exhibited hyperinsulinemia and IR. Carriers of deletions in exons 45 (OR = 9.32; 95% CI = 1.16–74.69 and 50 (OR = 8.73; 95% CI = 1.17–65.10 from DMD gene presented higher risk for IR than noncarriers. We observed a greater staining of cytoplasmic aggregates for GLUT4 in muscle biopsies than healthy muscle tissue. Conclusion. Obesity, hyperinsulinemia, and IR were observed in DMD/BMD patients and are independent of corticosteroids treatment. Carriers of deletion in exons 45 or 50 from DMD gene are at risk for developing IR. It is suggested that alteration in GLUT4 in muscle fibers from DMD patients could be involved in IR.

  13. Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Lager, Christina; Kroksmark, Anna-Karin

    2015-09-01

    The purpose of this study was to explore the prevalence, nature and scope of pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy and whether the pain differs between diagnostic groups or between adolescents with different ambulation status. Furthermore to study the consequences of pain and to identify pain-exacerbating and pain-relieving factors. In a national survey, fifty-five adolescents with spinal muscular atrophy and dystrophinopathy completed a questionnaire assessing pain frequency, duration, location using a body map, intensity and discomfort using visual analogue scales, pain interference using a modified version of Brief Pain Inventory and factors exacerbating and relieving pain. Sixty-nine per cent of the adolescents reported pain during the past three months and 50% reported chronic pain. The pain prevalence did not differ significantly between diagnostic groups or between ambulators and non-ambulators. The average pain intensity was graded as mild and the worst pain as moderate. The pain typically occurred weekly, most frequently in the neck/back or legs. General activity and mood were the areas that were most affected by pain. Common pain-exacerbating factors were sitting, too much movement/activity and being lifted or transferred. Pain is a frequent problem in adolescents with spinal muscular atrophy and dystrophinopathy. The assessments used enable an understanding both of the nature and scope of pain and of the impact of pain in everyday life. The study highlights the importance of assessing pain in a systematic manner and offering an individual approach to interventions designed to reduce pain in this population. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  14. Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy.

    Science.gov (United States)

    Lindberg, Ulrich; Witting, Nanna; Jørgensen, Stine Lundgaard; Vissing, John; Rostrup, Egill; Larsson, Henrik Bo Wiberg; Kruuse, Christina

    2017-01-01

    Patients suffering from Becker muscular dystrophy (BMD) have dysfunctional dystrophin proteins and are deficient in neuronal nitric oxide synthase (nNOS) in muscles. This causes functional ischemia and contributes to muscle wasting. Similar functional ischemia may be present in brains of patients with BMD, who often have mild cognitive impairment, and nNOS may be important for the regulation of the microvascular circulation in the brain. We hypothesized that treatment with sildenafil, a phosphodiesterase type 5 inhibitor that potentiates nitric oxide responses, would augment both the blood oxygen level-dependent (BOLD) response and cerebral blood flow (CBF) in patients with BMD. Seventeen patients (mean ± SD age 38.5 ± 10.8 years) with BMD were included in this randomized, double-blind, placebo-controlled, crossover trial. Twelve patients completed the entire study. Effects of sildenafil were assessed by 3 T magnetic resonance (MR) scanning, evoked potentials, somatosensory task-induced BOLD functional MR imaging, regional and global perfusion, and angiography before and after 4 weeks of sildenafil, 20 mg (Revatio in gelatine capsules, oral, 3 times daily), or placebo treatment. Sildenafil increased the event-related sensory and visual BOLD response compared with placebo (p < 0.01). However, sildenafil did not alter CBF, measured by MR phase contrast mapping, or the arterial diameter of the middle cerebral artery, measured by MR angiography. We conclude that nNOS may play a role in event-related neurovascular responses. Further studies in patients with BMD may help clarify the roles of dystrophin and nNOS in neurovascular coupling in general, and in patients with BMD in particular.

  15. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.

    Science.gov (United States)

    van den Bergen, J C; Schade van Westrum, S M; Dekker, L; van der Kooi, A J; de Visser, M; Wokke, B H A; Straathof, C S; Hulsker, M A; Aartsma-Rus, A; Verschuuren, J J; Ginjaar, H B

    2014-01-01

    Duchenne and Becker muscular dystrophy (DMD/BMD) are both caused by mutations in the DMD gene. Out-of-frame mutations in DMD lead to absence of the dystrophin protein, while in-frame BMD mutations cause production of internally deleted dystrophin. Clinically, patients with DMD loose ambulance around the age of 12, need ventilatory support at their late teens and die in their third or fourth decade due to pulmonary or cardiac failure. BMD has a more variable disease course. The disease course of patients with BMD with specific mutations could be very informative to predict the outcome of the exon-skipping therapy, aiming to restore the reading-frame in patients with DMD. Patients with BMD with a mutation equalling a DMD mutation after successful exon skipping were selected from the Dutch Dystrophinopathy Database. Information about disease course was gathered through a standardised questionnaire. Cardiac data were collected from medical correspondence and a previous study on cardiac function in BMD. Forty-eight patients were included, representing 11 different mutations. Median age of patients was 43 years (range 6-67). Nine patients were wheelchair users (26-56 years). Dilated cardiomyopathy was present in 7/36 patients. Only one patient used ventilatory support. Three patients had died at the age of 45, 50 and 76 years, respectively. This study provides mutation specific data on the course of disease in patients with BMD. It shows that the disease course of patients with BMD, with a mutation equalling a 'skipped' DMD mutation is relatively mild. This finding strongly supports the potential benefit of exon skipping in patients with DMD.

  16. Clinical study of DMD gene point mutation causing Becker muscular dystrophy

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    Ji-qing CAO

    2015-07-01

    Full Text Available Background  DMD gene point mutation, mainly nonsense mutation, always cause the most severe Duchenne muscular dystrophy (DMD. However, we also observed some cases of Becker muscular dystrophy (BMD carrying DMD point mutation. This paper aims to explore the mechanism of DMD point mutation causing BMD, in order to enhance the understanding of mutation types of BMD.  Methods  Sequence analysis was performed in 11 cases of BMD confirmed by typical clinical manifestations and muscle biopsy. The exon of DMD gene was detected non-deletion or duplication by multiplex ligation-dependent probe amplification (MLPA.  Results  Eleven patients carried 10 mutation types without mutational hotspot. Six patients carried nonsense mutations [c.5002G>T, p.(Glu1668X; c.1615C > T, p.(Arg539X; c.7105G > T, p.(Glu2369X; c.5287C > T, p.(Arg1763X; c.9284T > G, p.(Leu3095X]. One patient carried missense mutation [c.5234G > A, p.(Arg1745His]. Two patients carried frameshift mutations (c.10231dupT, c.10491delC. Two patients carried splicing site mutations (c.4518 + 3A > T, c.649 + 2T > C.  Conclusions  DMD gene point mutation may result in BMD with mild clinical symptoms. When clinical manifestations suggest the possibility of BMD and MLPA reveals non?deletion or duplication mutation of DMD gene, BMD should be considered. Study on the mechanism of DMD point mutation causing BMD is very important for gene therapy of DMD. DOI: 10.3969/j.issn.1672-6731.2015.06.005

  17. A reflexão pluridimensional da professora Magda Becker Soares

    Directory of Open Access Journals (Sweden)

    Magda Becker Soares

    2005-12-01

    Full Text Available Em fins de dezembro de 2005, a pesquisadora Magda Becker Soares, professora da Universidade Federal de Minas Gerais (UFMG, esteve em Natal participando de uma banca de Examinadora de Mestrado na Universidade Federal do Rio Grande do Norte (UFRN, e além disso proferiu a Palestra: “Alfabetização e Letramento: Caminhos do Passado e Descaminhos do Presente.” Aos leitores que já leram as obras pedagógicas ou mesmo assistiram palestras dessa professora e pesquisadora brasileira conhecem o seu empenho teórico, metodológico e intervencionista no domínio da educação escolar infantil e da formação do professor alfabetizador. A história acadêmica e intelectual da professora Magda Soares, é uma história de profundo compromisso político e de lealdade explícita para com a pluridimensionalidade dos processos pedagógicos de ensinar e aprender na escola, especialmente na escola pública. Em pessoa, ela é igualmente uma professora reflexiva que adora falar, mas falar ensinando. Os (as professores (as Marta Maria de Araújo, Denise Maria de Carvalho, Márcia Maria Gurgel, Marly Amarilha, Maria Estela Costa Campelo e Marcos Antonio de Carvalho Lopes entrevistaram, para esse número da Revista Educação em Questão, a professora Magda Soares, que expôs didaticamente o denso fenômeno – alfabetizar e educar.

  18. Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene.

    Science.gov (United States)

    Ishizaki, Masatoshi; Fujimoto, Akiko; Ueyama, Hidetsugu; Nishida, Yasuto; Imamura, Shigehiro; Uchino, Makoto; Ando, Yukio

    2015-01-01

    We herein present a report of three patients with Becker muscular dystrophy in the same family who developed complete atrioventricular block or ventricular tachycardia with severe cardiomyopathy. Our cases became unable to walk in their teens, and were introduced to mechanical ventilation due to respiratory muscle weakness in their twenties and thirties. In all three cases, a medical device such as a permanent cardiac pacemaker or an implantable cardiac defibrillator was considered to be necessary. The duplication of exons 3-4 in the dystrophin gene was detected in two of the patients. In patients with Becker muscular dystrophy, complete atrioventricular block or ventricular tachycardia within a family has rarely been reported. Thus attention should be paid to the possibility of severe arrhythmias in the severe phenotype of Becker muscular dystrophy.

  19. Cardiac involvement of progressive muscular dystrophy (Becker type, Limb-girdle type and Fukuyama type) evaluated by radionuclide method

    International Nuclear Information System (INIS)

    Nagamachi, Shigeki; Inoue, Kenjiro; Jinnouchi, Seishi; Hoshi, Hiroaki; Ono, Seiji; Ohnishi, Takashi; Futami, Shigemi; Watanabe, Katsushi; Hayashi, Tohru

    1994-01-01

    Tl-201 SPECT and Tc-99m-Human serum albumin (HSA) multigated radionuclide ventriculography were performed on 11 patients with progressive muscular dystrophy (Becker type 2, Fukuyama type 2, Limb-girdle type 7) to evaluate myocardial involvement. Hypoperfusion was detected in 8 patients on Tl-201 SPECT. Decreases in both systolic function (left ventricular ejection fraction; LVEF) and diastolic function (peak filling rate; PFR) were also seen in these patients. A high incidence of myocardial involvement of these kinds of progressive muscular dystrophy was suggested. (author)

  20. Cardiac involvement of progressive muscular dystrophy (Becker type, Limb-girdle type and Fukuyama type) evaluated by radionuclide method

    Energy Technology Data Exchange (ETDEWEB)

    Nagamachi, Shigeki; Inoue, Kenjiro; Jinnouchi, Seishi; Hoshi, Hiroaki; Ono, Seiji; Ohnishi, Takashi; Futami, Shigemi; Watanabe, Katsushi; Hayashi, Tohru [Miyazaki Medical Coll., Kiyotake (Japan)

    1994-02-01

    Tl-201 SPECT and Tc-99m-Human serum albumin (HSA) multigated radionuclide ventriculography were performed on 11 patients with progressive muscular dystrophy (Becker type 2, Fukuyama type 2, Limb-girdle type 7) to evaluate myocardial involvement. Hypoperfusion was detected in 8 patients on Tl-201 SPECT. Decreases in both systolic function (left ventricular ejection fraction; LVEF) and diastolic function (peak filling rate; PFR) were also seen in these patients. A high incidence of myocardial involvement of these kinds of progressive muscular dystrophy was suggested. (author).

  1. Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.

    Science.gov (United States)

    Bogue, Lauren; Peay, Holly; Martin, Ann; Lucas, Ann; Ramchandren, Sindhu

    2016-12-01

    Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or had biological sons with Duchenne or Becker muscular dystrophy and were enrolled in the US DuchenneConnect patient registry, with questions assessing knowledge of carrier status and recurrence risk, knowledge of care standards for carriers, and barriers to testing. Of the 182 eligible respondents, 25% did not know their carrier status and 14% incorrectly classified themselves as not at risk. Cost of testing was the most commonly identified barrier to testing. Women reporting unknown carrier status were 13 times as likely to express uncertainty regarding their recurrence risk compared to women reporting positive carrier status. 37% of women at an increased risk for cardiomyopathy had never had an echocardiogram. Women who were certain of their positive carrier status were twice as likely to have had an echocardiogram in the last five years compared to women with unknown carrier status. Future research on reducing barriers to counseling and carrier testing, such as cost, may improve care standard adherence. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Becker's rational addiction theory: An empirical test with price elasticities for distilled spirits in Denmark 1911-31.

    Science.gov (United States)

    Skog, Ole-Jørgen; Melberg, Hans Olav

    2006-10-01

    To test an implication of Becker's rational addiction theory, namely that price changes will lead both to simultaneous consumption changes as well as lagged changes (and potentially also immediate changes if future changes in prices are anticipated). Time-series analysis, first of aggregate sales of distilled spirits and prices, controlled for gross national product (GNP), and secondly of deaths from delirium tremens. Denmark 1911-31. Price changes were very large in the period 1916-18 due to shortages during World War I, and the Danish case can be conceived as a natural experiment. No evidence for lagged price effects in the expected direction was found. On the contrary, the evidence pointed in the opposite direction. The immediate reduction in sales following rising prices are, to some degree, counteracted by an adjustment in the opposite direction the following year. The delirium tremens data confirm this pattern. Becker's theory is not confirmed. Several possible explanations are discussed. If the pattern observed in these data is representative of a more general mechanism, current price elasticity estimates may be too high, by ignoring lagged compensatory effects.

  3. Ultrasound tissue characterization does not differentiate genotype, but indexes ejection fraction deterioration in becker muscular dystrophy.

    Science.gov (United States)

    Giglio, Vincenzo; Puddu, Paolo Emilio; Holland, Mark R; Camastra, Giovanni; Ansalone, Gerardo; Ricci, Enzo; Mela, Julia; Sciarra, Federico; Di Gennaro, Marco

    2014-12-01

    The aims of the study were, first, to assess whether myocardial ultrasound tissue characterization (UTC) in Becker muscular dystrophy (BMD) can be used to differentiate between patients with deletions and those without deletions; and second, to determine whether UTC is helpful in diagnosing the evolution of left ventricular dysfunction, a precursor of dilated cardiomyopathy. Both cyclic variation of integrated backscatter and calibrated integrated backscatter (cIBS) were assessed in 87 patients with BMD and 70 controls. The average follow-up in BMD patients was 48 ± 12 mo. UTC analysis was repeated only in a subgroup of 40 BMD patients randomly selected from the larger overall group (15 with and 25 without left ventricular dysfunction). Discrimination between BMD patients with and without dystrophin gene deletion was not possible on the basis of UTC data: average cvIBS was 5.2 ± 1.2 and 5.5 ± 1.4 dB, and average cIBS was 29.9 ± 4.7 and 29.6 ± 5.8, respectively, significantly different (p < 0.001) only from controls (8.6 ± 0.5 and 24.6 ± 1.2 dB). In patients developing left ventricular dysfunction during follow-up, cIBS increased to 31.3 ± 5.4 dB, but not significantly (p = 0.08). The highest cIBS values (34.6 ± 5.3 dB, p < 0.09 vs. baseline, p < 0.01 vs BMD patients without left ventricular dysfunction) were seen in the presence of severe left ventricular dysfunction. Multivariate statistics indicated that an absolute change of 6 dB in cIBS is associated with a high probability of left ventricular dysfunction. UTC analysis does not differentiate BMD patients with or without dystrophin gene deletion, but may be useful in indexing left ventricular dysfunction during follow-up. Copyright © 2014 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

  4. A comprehensive database of Duchenne and Becker muscular dystrophy patients in Children's Hospital of Fudan University

    Directory of Open Access Journals (Sweden)

    Xi-hua LI

    2015-05-01

    Full Text Available Background China is one of the countries that have the largest number of patients suffering from Duchenne and Becker muscular dystrophy (DMD/BMD. Although the building of international DMD/BMD databases has laid a foundation for clinical drug development and clinical trials, it has not yet been carried out in China. In this study, a modified registry form of Remudy was applied to 229 DMD/BMD patients in order to establish a comprehensive database, which will lay the groundwork for international cooperation.  Methods A total of 229 DMD/BMD patients diagnosed by genetic testing or muscle biopsy admitted in Children's Hospital of Fudan University (CHFU during the period of August 2011 to December 2013 were enrolled in this study. The data included sex, age, age at diagnosis, geographic distribution of patients, DMD gene mutation types, family history, walking capability, cardiac and respiratory function, steroid treatment and rehabilitation intervention.  Results There were 194 DMD and 35 BMD male patients who were diagnosed at the age of 0-18 years, and among them, most patients were diagnosed at the age of > 3-4 (16.59%, 38/229 and > 7-8 (14.85%, 34/229 years. Exon deletion was the most frequent genetic mutations for DMD/BMD [65.46% (127/194 and 74.29% (26/35], respectively. Patients with a family history accounted for 23.14% (53/229. The rate of DMD registrants losing walking capability was 17.53% (34/194, and all the BMD registrants were able to walk. Cardiac functions were examined in 46.29% (106/229 DMD/BMD boys and respiratory functions were examined in 17.90% (41/229 DMD/BMD boys. The proportion of DMD patients receiving prednisone with dosage of 0.75 mg/(kg·d was 26.29% (51/194.  Conclusions This database describes in detail the genotype, clinical manifestation, diagnosis and treatment and rehabilitation status of 229 DMD/BMD patients in China. The database not only provides comprehensive information for DMD/BMD patient management

  5. [Comparison analysis of muscle enzymes in children with myocarditis and Duchene/Becker muscular dystrophy].

    Science.gov (United States)

    Zhang, Yali; Wang, Hong; Yu, Xuexin; Xing, Yanlin; Wang, Ce; He, Rong

    2016-09-28

    To compare the changes in muscle enzyme between children with myocarditis and Duchene/Becker muscular dystrophy (DMD/BMD), and to seek the explanations for variation.
 The retrospective analysis for 83 myocarditis children (myocarditis group) and 69 DMD/BMD children (DMD/BMD group), who were collected from Department of Pediatric of Shengjing Hospital affiliated to China Medical University since January 2008 to May 2015, was carried out. At the same time, 24 healthy children from the Department of Pediatric Development served as a control group. The examination indexes included creatine kinase (CK), creatine kinase-isoenzyme MB (CK-MB), creatine kinase isoenzyme MB mass (CK-MB mass), cardiac troponin I (cTnI) and high-sensitive-cTnT (hs-cTnT).
 1) In the myocarditis group, the CK increased from 100 to 1 000 U/L, reached a peak after 5 days, which lasted for a week and then dropped to the normal; the CK-MB reached a peak after 5 to 7 days and dropped to the normal a month later; the CK-MB mass reached a peak on the first day and dropped to the normal after 3 weeks; the cTn reached to a peak after 5 days and dropped to the normal after about 17 days; hs-cTnT reached to a peak on the first day and dropped to the normal after about 19 days. 2) In the DMD/BMD group, the CK increased significantly and 27 cases had a CK value of more than 10 000 U/L. After the treatment for 1 to 2 weeks, their enzyme rose again after a slight drop. In terms of cTnI, 6 cases showed a moderate increase, 5 of them couldn't drop to the normal level until more than 3 weeks later; the hs-cTnT increased in the 45 cases, which lasted for more than 3 weeks in the 31 cases of them and showed a tendency of persisting increase.
 The cTnI and hs-cTnT rise significantly and possess wider observation window than CK and CK-MB mass in myocarditis children, with more sensitive and specific changes. The myocardial damage can occur before myasthenia and keep this trend for a long time in the DMD

  6. Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

    Science.gov (United States)

    Mathews, Katherine D; Cunniff, Chris; Kantamneni, Jiji R; Ciafaloni, Emma; Miller, Timothy; Matthews, Dennis; Cwik, Valerie; Druschel, Charlotte; Miller, Lisa; Meaney, F John; Sladky, John; Romitti, Paul A

    2010-09-01

    The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are reviewed independently by >4 clinicians and assigned to 1 of 6 case definition categories (definite, probable, possible, asymptomatic, female, not Duchenne/Becker muscular dystrophy) by consensus. As of November 2009, 815 potential cases were reviewed. Of the cases included in analysis, 674 (82%) were either ''definite'' or ''probable'' Duchenne/Becker muscular dystrophy. These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009.

  7. More deletions in the 5{prime} region than in the central region of the dystrophin gene were identified among Filipino Duchenne and Becker muscular dystrophy patients

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1995-11-06

    This report describes mutations in the dystrophin gene and the frequency of these mutations in Filipino pedigrees with Duchenne and Becker muscular dystrophy (DMD/BMD). The findings suggest the presence of genetic variability among DMD/BMD patients in different populations. 13 refs., 1 tab.

  8. Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.

    Science.gov (United States)

    Haghshenas, Maryam; Akbari, Mohammad Taghi; Karizi, Shohreh Zare; Deilamani, Faravareh Khordadpoor; Nafissi, Shahriar; Salehi, Zivar

    2016-06-01

    Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked neuromuscular diseases characterized by progressive muscular weakness and degeneration of skeletal muscles. Approximately two-thirds of the patients have large deletions or duplications in the dystrophin gene and the remaining one-third have point mutations. This study was performed to evaluate point mutations in Iranian DMD/BMD male patients. A total of 29 DNA samples from patients who did not show any large deletion/duplication mutations following multiplex polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) screening were sequenced for detection of point mutations in exons 50-79. Also exon 44 was sequenced in one sample in which a false positive deletion was detected by MLPA method. Cycle sequencing revealed four nonsense, one frameshift and two splice site mutations as well as two missense variants.

  9. Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

    Science.gov (United States)

    Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella

    2013-12-01

    Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time. Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

  10. A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.

    Science.gov (United States)

    Miao, Jing; Feng, Jia-Chun; Zhu, Dan; Yu, Xue-Fan

    2016-12-12

    Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extremely rare. We describe a 9-year-old boy with BMD, who presented with epilepsy and dysgnosia. Serum creatine kinase level was markedly elevated (3665 U/L). Wechsler intelligence tests showed a low intelligence quotient (IQ = 65). Electromyogram showed slight myogenic changes and skeletal muscle biopsy revealed muscular dystrophy. Immunohistochemical staining showed partial positivity of sarcolemma for dystrophin-N. Multiplex ligation-dependent probe amplification revealed a duplication mutation in exons 37-44 in the Dystrophin gene. The present case report helps to better understand the clinical and genetic features of BMD.

  11. [Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin gene].

    Science.gov (United States)

    Wang, Yanyun; Zhu, Yuling; Yang, Juan; Li, Yaqin; Sun, Jiangwen; Zhan, Yixin; Zhang, Cheng

    2018-02-10

    OBJECTIVE To explore the clinical features of patients carrying deletions of the rod domain of the dystrophin gene. METHODS Clinical data of 12 Chinese patients with Becker muscular dystrophy (BMD) and such deletions was reviewed. RESULTS Most patients complained of muscle weakness of lower limbs. Two patients had muscle cramps, one had increased creatine kinase (CK) level, and one had dilated cardiomyopathy. CONCLUSION Compared with DMD, the clinical features of BMD are much more variable, particularly for those carrying deletions of the rod domain of the dystrophin gene. Muscular weakness may not be the sole complaint of BMD. The diagnosis of BMD cannot be excluded by moderately elevated CK. For male patients with dilated cardiomyopathy, the possibility of BMD should be considered.

  12. Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

    Science.gov (United States)

    Chan, Sophelia H S; Lo, Ivan F M; Cherk, Sharon W W; Cheng, Wai Wai; Fung, Eva L W; Yeung, Wai Lan; Ngan, Mary; Lee, Wing Cheong; Kwong, Ling; Wong, Suet Na; Ma, Che Kwan; Tai, Shuk Mui; Ng, Grace S F; Wu, Shun Ping; Wong, Virginia C N

    2015-01-01

    The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower.

  13. Adequate managment of patients with dystrophinopathies (muscular dystrophy Duchenne/Becker: objective scales and additional diagnostic methods

    Directory of Open Access Journals (Sweden)

    A. S. Nosko

    2014-01-01

    Full Text Available There are still no guidlines on managment of Duchenne/Becker myodystrophy in domestic medical practice. It leads to decrease of quality of life and, what is more important, lifespan of patients. In this article we have described our Western coleagues lаst decade experience, including consensus guidelines published in 2010 on mаnаgment of Duchenne myodystrophy, supplemented with our practicle experience. We have described standardized motor development scale and muscle tone score for patients with MDD/MDB, and algorithm of multidiscipline care with focus on prevention, diagnosis and treatment of main disease and steroid therapy complications: cardiovascular, orthopedics, respirator etc. These recommendations not only improve quality of live and extend lifespan of MDD/MDB patients, but allow to take part in multicentre trials on searching of pathognomonic and symptomatic treatment.

  14. Howard S. Becker, La Bonne focale. De l’utilité des cas particuliers en sciences sociales

    OpenAIRE

    Feryn, Mathieu

    2017-01-01

    Comment peut-on comprendre de longs processus que nous observons sur le terrain dans le cadre des enquêtes menées en sciences humaines et sociales ? Rédigé par Howard S. Becker, l’ouvrage La Bonne focale. De l’utilité des cas particuliers en sciences sociales illustre la manière dont le sociologue de terrain investit sa recherche en étudiant des cas particuliers. Faisant le point sur sa méthodologie et son évolution depuis les trente dernières années ; d’une part, l’auteur met en relation ses...

  15. Utopia economica. Uno studio genealogico del neoliberalismo di Gary Becker in relazione al pensiero di Jeremy Bentham

    Directory of Open Access Journals (Sweden)

    Eleonora Buono

    2016-12-01

    Full Text Available L’Autrice si propone di tracciare la genealogia della posizione neoliberale, partendo soprattutto dai testi di Gary Becker. Il pensiero economico neoliberale è posto in relazione con la rivoluzione scientifica e l’operazione di matematizzazione della natura che da essa scaturisce. Questo percorso porterà poi a Jeremy Bentham, il cui sistema è spesso visto come antesignano degli studiosi neoliberali. Secondo la tesi sostenuta dall’Autrice, il neoliberalismo presenta il proprio sguardo come una neutra e scientifica descrizione del reale, sennonché in tale mossa si annida pur sempre una tendenza normativa. È così che gli economisti neoliberali elaborano un sistema che è altresì prescrittivo, proponendo un modello che si pone sul piano politico; modello il quale viene qui designato con il nome di «utopia economica».

  16. Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron

    Energy Technology Data Exchange (ETDEWEB)

    Todorova, A.; Bronzova, J.; Kremensky, I. [Univ. Hospital of Obstetrics and Gynecology, Sofia (Bulgaria)] [and others

    1996-10-02

    For the first time in Bulgaria, a deletion/duplication screening was performed on a group of 84 unrelated Duchenne/Becker muscular dystrophy patients, and the breakpoint distribution in the dystrophin gene was analyzed. Intragenic deletions were detected in 67.8% of patients, and intragenic duplications in 2.4%. A peculiar distribution of deletion breakpoints was found. Only 13.2% of the deletion breakpoints fell in the {open_quotes}classical{close_quotes} hot spot in intron 44, whereas the majority (> 54%) were located within the segment encompassing introns 45-51, which includes intron 50, the richest in breakpoints (16%) in the Bulgarian sample. Comparison with data from Greece and Turkey points at the probable existence of a deletion hot spot within intron 50, which might be a characteristic of populations of the Balkan region. 17 refs., 2 figs.

  17. Results of the radiological survey at Route 17(S) and Becker Avenue, Rochelle Park, New Jersey (RJ001)

    International Nuclear Information System (INIS)

    Foley, R.D.; Carrier, R.F.

    1989-11-01

    Maywood Chemical Works (MCW) of Maywood, New Jersey, generated process wastes and residues associated with the production and refining of thorium and thorium compounds from monazite ores from 1916 to 1956. MCW supplied rare earth metals and thorium compounds to the Atomic Energy Commission and various other government agencies from the late 1940s to the mid-1950s. Area residents used the sandlike waste from this thorium extraction process mixed with tea and cocoa leaves as mulch in their yards. Some of these contaminated wastes were also eroded from the site into Lodi Brook. At the request of the US Department of Energy (DOE), a group from Oak Ridge National Laboratory conducts investigative radiological surveys of properties in the vicinity of MCW to determine whether a property is contaminated with radioactive residues, principally 232 Th, derived from the MCW site. The surveys typically include direct measurement of gamma radiation levels and soil sampling for radionuclide analyses. The survey of this commercial property at Route 17(S) and Becker Avenue, Rochelle Park, New Jersey (RJ001), was conducted in 1986. Measurements taken at the commercial property located at Route 17(S) and Becker Avenue indicate slightly elevated gamma exposure rates in three areas of the parking lot. Although results of analysis of the asphalt disclosed radionuclide concentrations in excess of the applicable criterion, their presence is due to naturally radioactive substances in asphalt patching materials and is not associated with material from the MCW site. Therefore, it is recommended that this site be eliminated from consideration for inclusion in the DOE remedial action program. 5 refs., 2 figs., 3 tabs

  18. Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies.

    Science.gov (United States)

    Conway, Kristin M; Ciafaloni, Emma; Matthews, Dennis; Westfield, Chris; James, Kathy; Paramsothy, Pangaja; Romitti, Paul A

    2018-07-01

    Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine functional health. The infrastructure of the Muscular Dystrophy Surveillance, Tracking, and Research Network was used to identify commonly affected body functions and link selected functions to clinical surveillance data collected through medical record abstraction. Seventy-one (24 second-, 41 third- and 7 fourth-level) body function categories were selected via clinician review and consensus. Of these, 15 of 24 retained second-level categories were linked to data elements from the Muscular Dystrophy Surveillance, Tracking, and Research Network surveillance database. Our findings support continued development of a core set of body functions from the International Classification of Functioning, Disability and Health system that are representative of disease progression in dystrophinopathies and the incorporation of these functions in standardized evaluations of functional health and implementation of individualized rehabilitation care plans. Implications for Rehabilitation Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive disorders that affect the production of dystrophin resulting in compromised muscle function across multiple systems. The severity and progressive nature of dystrophinopathies can have considerable impact on a patient's participation in activities across multiple life domains. Our findings support continued development of an International Classification of Functioning, Disability and Health core set for childhood-onset dystrophinopathies. A standardized

  19. Is mammary reconstruction with the anatomical Becker expander a simple procedure? Complications and hidden problems leading to secondary surgical procedures: a follow-up study.

    Science.gov (United States)

    Farace, Francesco; Faenza, Mario; Bulla, Antonio; Rubino, Corrado; Campus, Gian Vittorio

    2013-06-01

    Debate over the role of Becker expander implants (BEIs) in breast reconstruction is still ongoing. There are no clear indications for BEI use. The main indications for BEI use are one-stage breast reconstruction procedure and congenital breast deformities correction, due to the postoperative ability to vary BEI volume. Recent studies showed that BEIs were removed 5 years after mammary reconstruction in 68% of operated patients. This entails a further surgical procedure. BEIs should not, therefore, be regarded as one-stage prostheses. We performed a case-series study of breast reconstructions with anatomically shaped Becker-35™ implants, in order to highlight complications and to flag unseen problems, which might entail a second surgical procedure. A total of 229 patients, reconstructed from 2005 to 2010, were enrolled in this study. Data relating to implant type, volume, mean operative time and complications were recorded. All the patients underwent the same surgical procedure. The minimum follow-up period was 18 months. During a 5-year follow-up, 99 patients required secondary surgery to correct their complications or sequelae; 46 of them underwent BEI removal within 2 years of implantation, 56 within 3 years, 65 within 4 years and 74 within 5 years. Our findings show that two different sorts of complications can arise with these devices, leading to premature implant removal, one common to any breast implant and one peculiar to BEIs. The Becker implant is a permanent expander. Surgeons must, therefore, be aware that, once positioned, the Becker expander cannot be adjusted at a later date, as in two-stage expander/prosthesis reconstructions for instance. Surgeons must have a clear understanding of possible BEI complications in order to be able to discuss these with their patients. Therefore, only surgeons experienced in breast reconstruction should use BEIs. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by

  20. Pathogenicity of Metarrhizium anisopliae (Metsch.) Sorokin and Beauveria bassiana (Bals.) Vuillemin isolates to Scaptocoris carvalhoi Becker (Hemiptera, Cydnidae); Patogenicidade de isolados de Metarhizium anisopliae (Metsch.) Sorokin e de Beauveria bassiana (Bals.) Vuillemin a Scaptocoris carvalhoi Becker (Hemiptera, Cydnidae)

    Energy Technology Data Exchange (ETDEWEB)

    Xavier, Luciane Modenez Saldivar [Universidade Federal da Grande Dourados (UFGD), Dourados, MS (Brazil)], e-mail: luciane_modenez@ibest.com.br; Avila, Crebio Jose [EMBRAPA Agropecuaria Oeste, Dourados, MS (Brazil)], e-mail: crebio@cpao.embrapa.br

    2006-12-15

    Pathogenicity of the fungi Metarrhizium anisopliae (Metsch.) Sorokin and Beauveria bassiana (Bals.) Vuillemin to stink bug Scaptocoris carvalhoi Becker, 1967 was evaluated under laboratory and greenhouse conditions. Experiments were carried out at EMBRAPA Agropecuaria Oeste, Dourados, Mato Grosso do Sul State, Brazil, in 2003. Ten M. anisopliae and eleven B. bassiana isolates were evaluated in laboratory using a completely randomized experimental design with five replicates (10 adults and 5 nymphs/plot). The pathogenicity of M. anisopliae isolate (Ma69) was also separately evaluated against nymphs and adults in laboratory and greenhouse. The stink bug mortality levels were higher for M. anisopliae isolates (between 73.3% and 94.7% than for B. bassiana isolates (between 10.7% and 78.7%). In greenhouse, stink bug mortality due to the M. anisopliae isolate (Ma69) was 57.3%, and there was no difference of mortality for nymphs and adults of stink bug in laboratory. However, in greenhouse, mortality levels were significantly higher (p<0,05) for nymphs (38,4%) than for adults (16,2%). From these data, we conclude that M. anisopliae isolate Ma69 was efficient to control S. carvalhoi in laboratory and in greenhouse, thus being a promising choice for use as a microbial insecticide under field conditions. (author)

  1. Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

    Directory of Open Access Journals (Sweden)

    Fawziah Mohammed

    Full Text Available Duchenne and Becker muscular dystrophies (DMD/BMD are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. DMD/BMD is caused by mutations in the Dystrophin gene on the X chromosome, leading to the absence of the essential muscle protein Dystrophin in DMD. In BMD, Dystrophin is partially functioning with a shorter protein product. Recent advances in molecular therapies for DMD require precise genetic diagnoses because most therapeutic strategies are mutation-specific. Hence, early diagnosis is crucial to allow appropriate planning for patient care and treatment. In this study, data from DMD/BMD patients who attended the Kuwait Medical Genetic Center during the last 20 years was retrieved from a Kuwait neuromuscular registry and analyzed. We combined multiplex PCR and multiplex ligation-dependent probe amplification (MLPA with Sanger sequencing to detect Dystrophin gene mutations. A total of 35 different large rearrangements, 2 deletion-insertions (Indels and 4 substitution mutations were identified in the 68 unrelated families. The deletion and duplication rates were 66.2% and 4.4%, respectively. The analyzed data from our registry revealed that 11 (16% of the DMD families will benefit from newly introduced therapies (Ataluren and exon 51 skipping. At the time of submitting this paper, two cases have already enrolled in Ataluren (Tranlsarna™ therapy, and one case has been enrolled in exon 51 skipping therapy.

  2. Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study.

    Science.gov (United States)

    Wang, Liang; Chen, Menglong; He, Ruojie; Sun, Yiming; Yang, Juan; Xiao, Lulu; Cao, Jiqing; Zhang, Huili; Zhang, Cheng

    2017-01-01

    Here, we investigated correlations between serum creatinine (SCRN) levels and clinical phenotypes of dystrophinopathy in young patients. Sixty-eight patients with dystrophinopathy at the Neuromuscular Clinic, The First Affiliated Hospital, Sun Yat-sen University, were selected for this study. The diagnosis of dystrophinopathy was based on clinical manifestation, biochemical changes, and molecular analysis. Some patients underwent muscle biopsies; SCRN levels were tested when patients were ≤3 years old, and reading frame changes were analyzed. Each patient was followed up, and motor function and clinical phenotype were assessed when the same patients were ≥4 years old. Our findings indicated that in young patients, lower SCRN levels were associated with increased disease severity ( p  Becker muscular dystrophy (BMD) ( p  dystrophy (DMD) ( p  < 0.01) and were significantly higher in patients carrying in-frame mutations than in patients carrying out-of-frame mutations ( p  < 0.001). SCRN level cutoff values for identifying mild BMD [18 µmol/L; area under the curve (AUC): 0.947; p  < 0.001] and DMD (17 µmol/L; AUC: 0.837; p  < 0.001) were established. These results suggest that SCRN might be a valuable biomarker for distinguishing DMD from BMD in patients aged ≤3 years and could assist in the selection of appropriate treatment strategies.

  3. Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

    Science.gov (United States)

    Gonçalves, Ana; Oliveira, Jorge; Coelho, Teresa; Taipa, Ricardo; Melo-Pires, Manuel; Sousa, Mário; Santos, Rosário

    2017-10-03

    A broad mutational spectrum in the dystrophin ( DMD ) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants. Bioinformatic, transcriptomic (real time PCR, RT-PCR), and genomic approaches (Southern blot, long-range PCR, and single molecule real-time sequencing) were used to characterize the mutation. An aberrant transcript was identified, containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene. This corresponded to the partial exonization of a long interspersed nuclear element (LINE-1), disrupting the open reading frame. Further characterization identified a complete LINE-1 (~6 kb with typical hallmarks) deeply inserted in intron 51. Haplotyping and segregation analysis demonstrated that the mutation had a de novo origin. Besides underscoring the importance of mRNA studies in genetically unsolved cases, this is the first report of a disease-causing fully intronic LINE-1 element in DMD , adding to the diversity of mutational events that give rise to D/BMD.

  4. Pathogenicity of Metarrhizium anisopliae (Metsch.) Sorokin and Beauveria bassiana (Bals.) Vuillemin isolates to Scaptocoris carvalhoi Becker (Hemiptera, Cydnidae)

    International Nuclear Information System (INIS)

    Xavier, Luciane Modenez Saldivar; Avila, Crebio Jose

    2006-01-01

    Pathogenicity of the fungi Metarrhizium anisopliae (Metsch.) Sorokin and Beauveria bassiana (Bals.) Vuillemin to stink bug Scaptocoris carvalhoi Becker, 1967 was evaluated under laboratory and greenhouse conditions. Experiments were carried out at EMBRAPA Agropecuaria Oeste, Dourados, Mato Grosso do Sul State, Brazil, in 2003. Ten M. anisopliae and eleven B. bassiana isolates were evaluated in laboratory using a completely randomized experimental design with five replicates (10 adults and 5 nymphs/plot). The pathogenicity of M. anisopliae isolate (Ma69) was also separately evaluated against nymphs and adults in laboratory and greenhouse. The stink bug mortality levels were higher for M. anisopliae isolates (between 73.3% and 94.7% than for B. bassiana isolates (between 10.7% and 78.7%). In greenhouse, stink bug mortality due to the M. anisopliae isolate (Ma69) was 57.3%, and there was no difference of mortality for nymphs and adults of stink bug in laboratory. However, in greenhouse, mortality levels were significantly higher (p<0,05) for nymphs (38,4%) than for adults (16,2%). From these data, we conclude that M. anisopliae isolate Ma69 was efficient to control S. carvalhoi in laboratory and in greenhouse, thus being a promising choice for use as a microbial insecticide under field conditions. (author)

  5. Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

    Science.gov (United States)

    Gonçalves, Ana; Coelho, Teresa; Melo-Pires, Manuel; Sousa, Mário

    2017-01-01

    A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants. Bioinformatic, transcriptomic (real time PCR, RT-PCR), and genomic approaches (Southern blot, long-range PCR, and single molecule real-time sequencing) were used to characterize the mutation. An aberrant transcript was identified, containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene. This corresponded to the partial exonization of a long interspersed nuclear element (LINE-1), disrupting the open reading frame. Further characterization identified a complete LINE-1 (~6 kb with typical hallmarks) deeply inserted in intron 51. Haplotyping and segregation analysis demonstrated that the mutation had a de novo origin. Besides underscoring the importance of mRNA studies in genetically unsolved cases, this is the first report of a disease-causing fully intronic LINE-1 element in DMD, adding to the diversity of mutational events that give rise to D/BMD. PMID:28972564

  6. Characterization of genetic deletions in Becker muscular dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin

    Energy Technology Data Exchange (ETDEWEB)

    Thanh, L.T.; Man, Nguyen Thi; Morris, G.E. [Wales Institute, Clwyd (United Kingdom)] [and others

    1995-08-28

    We have produced a new panel of 20 monoclonal antibodies (mAbs) against a region of the dystrophin protein corresponding to a deletion-prone region of the Duchenne muscular dystrophy gene (exons 45-50). We show that immunohistochemistry or Western blotting with these {open_quotes}exon-specific{close_quotes} mAbs can provide a valuable addition to Southern blotting or PCR methods for the accurate identification of genetic deletions in Becker muscular dystrophy patients. The antibodies were mapped to the following exons: exon 45 (2 mAbs), exon 46 (6), exon 47 (1), exons 47/48 (4), exons 48-50 (6), and exon 50 (1). PCR amplification of single exons or groups of exons was used both to produce specific dystrophin immunogens and to map the mAbs obtained. PCR-mediated mutagenesis was also used to identify regions of dystrophin important for mAb binding. Because the mAbs can be used to characterize the dystrophin produced by individual muscle fibres, they will also be useful for studying {open_quotes}revertant{close_quotes} fibres in Duchenne muscle and for monitoring the results of myoblast therapy trials in MD patients with deletions in this region of the dystrophin gene. 27 refs., 7 figs., 3 tabs.

  7. Na+-H+ exchanger and proton channel in heart failure associated with Becker and Duchenne muscular dystrophies.

    Science.gov (United States)

    Bkaily, Ghassan; Jacques, Danielle

    2017-10-01

    Cardiomyopathy is found in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, which are linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects are not limited to DMD but are also present in mild BMD. The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD. Using this model, our previous work showed a defect in intracellular sodium homeostasis before the appearance of any apparent biochemical and histological defects. This was attributed to the continual presence of the fetal slow sodium channel, which was also found to be active in human DMD. Due to muscular intracellular acidosis, the intracellular sodium overload in DMD and BMD was also due to sodium influx through the sodium-hydrogen exchanger NHE-1. Lifetime treatment with an NHE-1 inhibitor prevented intracellular Na + overload and early death due to HF. Our previous work also showed that another proton transporter, the voltage-gated proton channel (Hv1), exists in many cell types including heart cells and skeletal muscle fibers. The Hv1 could be indirectly implicated in the beneficial effect of blocking NHE-1.

  8. Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies

    Energy Technology Data Exchange (ETDEWEB)

    Vainzof, M.; Passos-Bueno, M.R.; Man, N.; Zatz, M. [IB USP, Sao Paulo (Brazil)] [and others

    1995-09-25

    While present in the surface membrane of embryonic muscle fibers, in adult normal muscle fibers, utrophin is restricted to the motor endplate and cells of blood vessel walls. However, the observation that utrophin is maintained in the extrajunctional plasma membrane in Duchenne (DMD) and in mdx muscle fibers has led to the suggestion that excess utrophin might compensate for dystrophin deficiency in the Xp21 muscular dystrophies. In order to detect an inverse correlation of utrophin presence and clinical severity, we have assessed utrophin distribution and quantity in DMD and Becker (BMD) patients of different ages and stages of clinical severity. All patients showed a positive discontinuous immunolabeling of utrophin on the sarcolemma, staining equally small and large muscle fibers, indicating that immature characteristics are maintained in such fibers. On Western blot, utrophin bands with concentrations 2- to 10-fold greater than in normal controls were detected in all DMD/BMD patients. However, no negative correlation was found between the amount of utrophin and the severity of clinical course, implying that the detectable utrophin levels in these patients did not compensate for dystrophin deficiency. In a DMD patient with growth hormone (GH) deficiency and a BMD-like clinical course, utrophin levels were comparable to the other typical DMD cases, which reinforces the hypothesis that the observed increase in utrophin is apparently not responsible for a milder clinical course in some patients with Xp21 muscular dystrophies. 35 refs., 2 figs., 1 tab.

  9. Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.

    Science.gov (United States)

    Garcia, Susana; de Haro, Tomás; Zafra-Ceres, Mercedes; Poyatos, Antonio; Gomez-Capilla, Jose A; Gomez-Llorente, Carolina

    2014-01-01

    Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible. Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives. Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied. MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.

  10. MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

    Science.gov (United States)

    Zimowski, Janusz G; Massalska, Diana; Holding, Mariola; Jadczak, Sylwia; Fidziańska, Elżbieta; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Kamińska, Anna; Zaremba, Jacek

    2014-01-01

    Duchenne/Becker muscular dystrophy (DMD/BMD) is a recessive, X-linked disorder caused by a mutation in the dystrophin gene. Deletions account for approximately 60-65% of mutations, duplications for 5-10%. The remaining cases are mainly point mutations. According to Monaco theory clinical form of the disease depends on maintaining or disrupting the reading frame. The purpose of the study was to determine frequency and location of deletions and duplications in the dystrophin gene, to determine the compliance between maintaining/disrupting the reading frame and clinical form of the disease and to check the effectiveness of MLPA (multiplex ligation-dependent probe amplification) in the detection of these mutations in hemizygous patients and heterozygous female carriers. The material is composed of combined results of molecular diagnosis carried out in years 2009-2012 in 180 unrelated patients referred with the diagnosis of DMD/BMD tested by use of MLPA. We identified 110 deletions, 22 duplication (in one patient two different duplications were detected) and 2 point mutations. Deletions involved mainly exons 45-54 and 3-21, whereas most duplications involved exons 3-18. The compliance with Monaco theory was 95% for deletions and 76% for duplications. Most of mutations in the dystrophin gene were localized in the hot spots - different for deletions and duplications. MLPA enabled their quick identification, exact localization and determination whether or not they maintained or disrupted the reading frame. MLPA was also effective in detection of deletions and duplications in female carriers. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  11. Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India.

    Science.gov (United States)

    Rao, Mandava V; Sindhav, Gaurang M; Mehta, Jitendra J

    2014-07-01

    In India, various groups have studied different regions to find out deletion pattern of dystrophin gene. We have investigated its deletion pattern among Duchenne/Becker muscular dystrophy (D/BMD) patients across Gujarat. Moreover, in this study we also correlate the same with reading frame rule. However, we too consider various clinicopathological features to establish as adjunct indices when deletion detection fails. In this pilot study, a total of 88 D/BMD patients consulting at our centers in Gujarat, India were included. All patients were reviewed on basis of their clinical characteristics, tested by three primer sets of 10-plex, 9-plex, and 7-plex polymerase chain reaction (PCR) for genetic analysis; whereas, biochemical indices were measured using automated biochemical analyzers. The diagnosis of D/BMD was confirmed by multiplex-PCR (M-PCR) in D/BMD patients. A number of 65 (73.86%) out of 88 patients showed deletion in dystrophin gene. The exon 50 (58.46%) was the most frequent deletion found in our study. The mean age of onset of DMD and BMD was 4.09 ± 0.15 and 7.14 ± 0.55 years, respectively. In patients, mean creatine phosphokinase (CPK), lactate dehydrogenase (LDH), and myoglobin levels were elevated significantly (P < 0.05) in comparison to controls. Addition to CPK, LDH and myoglobin are good adjunct when deletion detection failed. These data are further in accordance with world literature when correlated with frame rule. The analysis has been carried out for the first time for a total of 88 D/BMD patients particularly from Gujarat, India. More research is essential to elucidate specific mutation pattern in association with management and therapies of proband.

  12. Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry.

    Science.gov (United States)

    Mori-Yoshimura, Madoka; Mizuno, Yukio; Yoshida, Sumiko; Minami, Narihiro; Yonemoto, Naohiro; Takeuchi, Fumi; Nishino, Ichizo; Murata, Miho; Takeda, Shin'ichi; Takahashi, Yuji; Kimura, En

    2018-04-01

    Little is known about the relationship between Becker Muscular Dystrophy (BMD) and developmental problems, school life, employment, and mental problems. We aimed to clarify whether BMD is a risk factor for developmental disorders, problematic behavior, psychiatric diseases, and other social difficulties in school life and employment. Adults with genetically or immunohistochemically confirmed BMD from the Registry of Muscular Dystrophy in Japan (REMUDY) were asked to complete a questionnaire regarding patient history, school life, employment, and mental problems. In total, 125 (68.3%) of 183 participants with BMD (median age, 37.2 years) completed the questionnaire. Of these, ten had developmental disorders (mental retardation, autism, and speech disturbance). Fifty-eight (44%) experienced bullying in school, and 39 felt the reason for bullying was physical handicap. Sixteen participants experienced problematic behavior such as cutting class, domestic violence, violent incidents, suicide attempts, or self-mutilation. Employment histories were noted by 92 (73%), of whom 15 could not continue to work due to physical handicaps. Fifteen participants had psychiatric disorders, with 5, 3 and 1 having neurosis, depression, and bipolar disorder, respectively. The other 6 participants with psychiatric disorders did not specify their diagnoses. Patients carrying a Dp140 expression change had significantly more incidences of developmental disorders, but not bullying, problematic behavior, workplace difficulties, or psychiatric disorders. Patients with BMD risk bullying and workplace difficulties, as well as developing psychiatric disorders. Parents, teachers, and supporters should be mindful of the daily environment of BMD patients and provide support to help them cope with stress. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  13. Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.

    Science.gov (United States)

    Zhao, Hui-Hui; Sun, Xue-Ping; Shi, Ming-Chao; Yi, Yong-Xiang; Cheng, Hong; Wang, Xing-Xia; Xu, Qing-Cheng; Ma, Hong-Ming; Wu, Hao-Quan; Jin, Qing-Wen; Niu, Qi

    2018-04-05

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction (multiplex PCR) and multiplex ligation-dependent probe amplification (MLPA) are the most common methods for detecting dystrophin gene mutations. This study aimed to contrast the two methods and discern the genetic characterization of patients with DMD/BMD in Eastern China. We collected 121 probands, 64 mothers of probands, and 15 fetuses in our study. The dystrophin gene was detected by multiplex PCR primarily in 28 probands, and MLPA was used in multiplex PCR-negative cases subsequently. The dystrophin gene of the remaining 93 probands and 62 female potential carriers was tested by MLPA directly. In fetuses, multiplex PCR and MLPA were performed on 4 fetuses and 10 fetuses, respectively. In addition, sequencing was also performed in 4 probands with negative MLPA. We found that 61.98% of the subjects had genetic mutations including deletions (50.41%) and duplications (11.57%). There were 43.75% of mothers as carriers of the mutation. In 15 fetuses, 2 out of 7 male fetuses were found to be unhealthy and 2 out of 8 female fetuses were found to be carriers. Exons 3-26 and 45-52 have the maximum frequency in mutation regions. In the frequency of exons individually, exon 47 and exon 50 were the most common in deleted regions and exons 5, 6, and 7 were found most frequently in duplicated regions. MLPA has better productivity and sensitivity than multiplex PCR. Prenatal diagnosis should be applied in DMD high-risk fetuses to reduce the disease incidence. Furthermore, it is the responsibility of physicians to inform female carriers the importance of prenatal diagnosis.

  14. Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.

    Science.gov (United States)

    Oitani, Yoshiki; Ishiyama, Akihiko; Kosuga, Motomichi; Iwasawa, Kentaro; Ogata, Ayako; Tanaka, Fumiko; Takeshita, Eri; Shimizu-Motohashi, Yuko; Komaki, Hirofumi; Nishino, Ichizo; Okuyama, Torayuki; Sasaki, Masayuki

    2018-05-16

    Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD. GAA enzyme activity in both dried blood spots and lymphocytes was low, at 11.7% and 7.7% of normal, respectively. However, genetic analysis of GAA detected only heterozygosity for a nonsense mutation (c.118C > T, p.Arg40 ∗ ). Muscle pathology showed no glycogen deposits and no high acid phosphatase activity. Hematoxylin-eosin staining detected scattered regenerating fibers; the fibers were faint and patchy on immunochemistry staining of dystrophin. The amount of dystrophin protein was reduced to 11.8% of normal, on Western blotting analysis. Direct sequencing analysis of DMD revealed hemizygosity for a nonsense mutation (c.72G > A, p.Trp24 ∗ ). The boy was diagnosed with BMD, despite remarkable reduction in GAA activity; further, he demonstrated heterozygosity for [p.Gly576Ser; p.Glu689Lys] polymorphism variants that indicated pseudodeficiency on another allele in GAA. Pseudodeficiency alleles are detected in approximately 4% of the Asian population; these demonstrate low activity of acid α-glucosidase (GAA), similar to levels found in Pompe disease. Clinicians should be careful in their interpretations of pseudodeficiency alleles that complicate diagnosis in cases of elevated creatine kinase. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  15. Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India

    Directory of Open Access Journals (Sweden)

    Mandava V Rao

    2014-01-01

    Full Text Available Objective: In India, various groups have studied different regions to find out deletion pattern of dystrophin gene. We have investigated its deletion pattern among Duchenne/Becker muscular dystrophy (D/BMD patients across Gujarat. Moreover, in this study we also correlate the same with reading frame rule. However, we too consider various clinicopathological features to establish as adjunct indices when deletion detection fails. Materials and Methods: In this pilot study, a total of 88 D/BMD patients consulting at our centers in Gujarat, India were included. All patients were reviewed on basis of their clinical characteristics, tested by three primer sets of 10-plex, 9-plex, and 7-plex polymerase chain reaction (PCR for genetic analysis; whereas, biochemical indices were measured using automated biochemical analyzers. Results: The diagnosis of D/BMD was confirmed by multiplex-PCR (M-PCR in D/BMD patients. A number of 65 (73.86% out of 88 patients showed deletion in dystrophin gene. The exon 50 (58.46% was the most frequent deletion found in our study. The mean age of onset of DMD and BMD was 4.09 ΁ 0.15 and 7.14 ΁ 0.55 years, respectively. In patients, mean creatine phosphokinase (CPK, lactate dehydrogenase (LDH, and myoglobin levels were elevated significantly (P < 0.05 in comparison to controls. Addition to CPK, LDH and myoglobin are good adjunct when deletion detection failed. These data are further in accordance with world literature when correlated with frame rule. Conclusion: The analysis has been carried out for the first time for a total of 88 D/BMD patients particularly from Gujarat, India. More research is essential to elucidate specific mutation pattern in association with management and therapies of proband.

  16. Dystrophin Hot-Spot Mutants Leading to Becker Muscular Dystrophy Insert More Deeply into Membrane Models than the Native Protein.

    Science.gov (United States)

    Ameziane-Le Hir, Sarah; Paboeuf, Gilles; Tascon, Christophe; Hubert, Jean-François; Le Rumeur, Elisabeth; Vié, Véronique; Raguénès-Nicol, Céline

    2016-07-26

    Dystrophin (DYS) is a membrane skeleton protein whose mutations lead to lethal Duchenne muscular dystrophy or to the milder Becker muscular dystrophy (BMD). One third of BMD "in-frame" exon deletions are located in the region that codes for spectrin-like repeats R16 to R21. We focused on four prevalent mutated proteins deleted in this area (called RΔ45-47, RΔ45-48, RΔ45-49, and RΔ45-51 according to the deleted exon numbers), analyzing protein/membrane interactions. Two of the mutants, RΔ45-48 and RΔ45-51, led to mild pathologies and displayed a similar triple coiled-coil structure as the full-length DYS R16-21, whereas the two others, RΔ45-47 and RΔ45-49, induced more severe pathologies and showed "fractional" structures unrelated to the normal one. To explore lipid packing, small unilamellar liposomes (SUVs) and planar monolayers were used at various initial surface pressures. The dissociation constants determined by microscale thermophoresis (MST) were much higher for the full-length DYS R161-21 than for the mutants; thus the wild type protein has weaker SUV binding. Comparing surface pressures after protein adsorption and analysis of atomic force microscopy images of mixed protein/lipid monolayers revealed that the mutants insert more into the lipid monolayer than the wild type does. In fact, in both models every deletion mutant showed more interactions with membranes than the full-length protein did. This means that mutations in the R16-21 part of dystrophin disturb the protein's molecular behavior as it relates to membranes, regardless of whether the accompanying pathology is mild or severe.

  17. Engaging patients and caregivers in prioritizing symptoms impacting quality of life for Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Hollin, Ilene L; Peay, Holly; Fischer, Ryan; Janssen, Ellen M; Bridges, John F P

    2018-05-26

    Patient preference information (PPI) have an increasing role in regulatory decision-making, especially in benefit-risk assessment. PPI can also facilitate prioritization of symptoms to treat and inform meaningful selection of clinical trial endpoints. We engaged patients and caregivers to prioritize symptoms of Duchenne and Becker muscular dystrophy (DBMD) and explored preference heterogeneity. Best-worst scaling (object case) was used to assess priorities across 11 symptoms of DBMD that impact quality of life and for which there is unmet need. Respondents selected the most and least important symptoms to treat among a subset of five. Relative importance scores were estimated for each symptom, and preference heterogeneity was identified using mixed logit and latent class analysis. Respondents included patients (n = 59) and caregivers (n = 96) affected by DBMD. Results indicated that respondents prioritized "weaker heart pumping" [score = 5.13; 95% CI (4.67, 5.59)] and pulmonary symptoms: "lung infections" [3.15; (2.80, 3.50)] and "weaker ability to cough" [2.65; (2.33, 2.97)] as the most important symptoms to treat and "poor attention span" as the least important symptom to treat [- 5.23; (- 5.93, - 4.54)]. Statistically significant preference heterogeneity existed (p value dystrophy indicated that symptoms with direct links to morbidity and mortality were prioritized above other non-skeletal muscle symptoms. Findings suggested the existence of preference heterogeneity for symptoms, which may be related to symptom experience.

  18. Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.

    Science.gov (United States)

    Viggiano, Emanuela; Picillo, Esther; Ergoli, Manuela; Cirillo, Alessandra; Del Gaudio, Stefania; Politano, Luisa

    2017-04-01

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting approximately 1: 18.000 male births. Female carriers are usually asymptomatic, although 2.5-18% may present muscle or heart symptoms. In the present study, the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy (DMD) carriers. XCI was determined on the lymphocytes of 36 BMD carriers (both symptomatic and not symptomatic) from 11 families requiring genetic advice at the Cardiomyology and Medical Genetics of the Second University of Naples, using the AR methylation-based assay. Carriers were subdivided into two groups, according to age above or below 50 years. Seven females from the same families known as noncarriers were used as controls. A Student's t-test for nonpaired data was performed to evaluate the differences observed in the XCI values between asymptomatic and symptomatic carriers, and carriers aged above or below 50 years. A Pearson correlation test was used to evaluate the inheritance of the XCI pattern in 19 mother-daughter pairs. The results showed that symptomatic BMD carriers had a skewed XCI with a preferential inactivation of the X chromosome carrying the normal allele, whereas the asymptomatic carriers and controls showed a random XCI. No concordance concerning the XCI pattern was observed between mothers and related daughters. The data obtained in the present study suggest that the onset of symptoms in BMD carriers is related to a skewed XCI, as observed in DMD carriers. Furthermore, they showed no concordance in the XCI pattern inheritance. Copyright © 2017 John Wiley & Sons, Ltd.

  19. Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study

    Directory of Open Access Journals (Sweden)

    Liang Wang

    2017-05-01

    Full Text Available Here, we investigated correlations between serum creatinine (SCRN levels and clinical phenotypes of dystrophinopathy in young patients. Sixty-eight patients with dystrophinopathy at the Neuromuscular Clinic, The First Affiliated Hospital, Sun Yat-sen University, were selected for this study. The diagnosis of dystrophinopathy was based on clinical manifestation, biochemical changes, and molecular analysis. Some patients underwent muscle biopsies; SCRN levels were tested when patients were ≤3 years old, and reading frame changes were analyzed. Each patient was followed up, and motor function and clinical phenotype were assessed when the same patients were ≥4 years old. Our findings indicated that in young patients, lower SCRN levels were associated with increased disease severity (p < 0.01 and that SCRN levels were the highest in patients exhibiting mild Becker muscular dystrophy (BMD (p < 0.001 and the lowest in patients with Duchenne muscular dystrophy (DMD (p < 0.01 and were significantly higher in patients carrying in-frame mutations than in patients carrying out-of-frame mutations (p < 0.001. SCRN level cutoff values for identifying mild BMD [18 µmol/L; area under the curve (AUC: 0.947; p < 0.001] and DMD (17 µmol/L; AUC: 0.837; p < 0.001 were established. These results suggest that SCRN might be a valuable biomarker for distinguishing DMD from BMD in patients aged ≤3 years and could assist in the selection of appropriate treatment strategies.

  20. Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany.

    Science.gov (United States)

    Schreiber-Katz, Olivia; Klug, Constanze; Thiele, Simone; Schorling, Elisabeth; Zowe, Janet; Reilich, Peter; Nagels, Klaus H; Walter, Maggie C

    2014-12-18

    Our study aimed to determine the burden of illness in dystrophinopathy type Duchenne (DMD) and Becker (BMD), both leading to progressive disability, reduced working capacity and high health care utilization. A micro-costing method was used to examine the direct, indirect and informal care costs measuring the economic burden of DMD in comparison to BMD on patients, relatives, payers and society in Germany and to determine the health care burden of these diseases. Standardized questionnaires were developed based on predefined structured interview guidelines to obtain data directly from patients and caregivers using the German dystrophinopathy patient registry. The health-related quality of life (HRQOL) was analyzed using PedsQL™ Measurement Model. In total, 363 patients with genetically confirmed dystrophinopathies were enrolled. Estimated annual disease burden including direct medical/non-medical, indirect and informal care costs of DMD added up to € 78,913 while total costs in BMD were € 39,060. Informal care costs, indirect costs caused by loss of productivity and absenteeism of patients and caregivers as well as medical costs of rehabilitation services and medical aids were identified as the most important cost drivers. Total costs notably increased with disease progression and were consistent with the clinical severity; however, patients' HRQOL declined with disease progression. In conclusion, early assessments of economic aspects and the disease burden are essential to gain extensive knowledge of a distinct disease and above all play an important role in funding drug development programs for rare diseases. Therefore, our results may help to accelerate payer negotiations such as the pricing and reimbursement of new therapies, and will hopefully contribute to facilitating the efficient translation of innovations from clinical research over marketing authorization to patient access to a causative treatment.

  1. Delayed entry into first marriage and marital stability: Further evidence on the Becker-Landes-Michael hypothesis

    Directory of Open Access Journals (Sweden)

    Evelyn Lehrer

    2013-09-01

    Full Text Available BACKGROUND In their pioneering research, Becker, Landes, and Michael (1977 found that beyond age 30 there is a positive relationship between women's age at first marriage and marital instability. They interpreted this finding as a "poor-match effect" emerging when the biological clock begins to tick. OBJECTIVE Our objective was to ascertain with more recent data whether or not there is evidence of a poor match effect and if so, whether it is associated with higher marital instability. METHODS We used data on non-Hispanic white women from the 2006-2010 National Surveys of Family Growth (NSFG (N = 3,184. RESULTS We found evidence of the existence of a poor-match effect: women who delay marriage disproportionately make unconventional matches, which are generally associated with high marital instability. We also found, however, that their unions are very solid. Both of these results were consistent with earlier findings for the 1995 and 2002-2003 NSFG cycles. In attempting to explain this puzzle, we proposed and tested competing hypotheses. We found that the destabilizing effects associated with indicators of unconventional matches are also present in marriages contracted late, but are dwarfed by the stabilizing influences associated with higher levels of education and older ages. CONCLUSIONS This paper contributes to our understanding of the determinants of marital instability and the poor match effect by providing a new interpretation for the puzzle described above. COMMENTS Our findings have implications for analyses of changes over time in the extent of positive assortative mating in the marriage market, and for the extensive literature showing that heterogamy in traits that are complementary in the context of marriage is destabilizing -- heterogamous marriages contracted at a late age are likely to be stable.

  2. Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

    Science.gov (United States)

    Janghra, Narinder; Morgan, Jennifer E; Sewry, Caroline A; Wilson, Francis X; Davies, Kay E; Muntoni, Francesco; Tinsley, Jonathon

    2016-01-01

    Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction in muscle mass and function. There is evidence from dystrophin-deficient mouse models that increasing levels of utrophin at the muscle fibre sarcolemma by genetic or pharmacological means significantly reduces the muscular dystrophy pathology. In order to determine the efficacy of utrophin modulators in clinical trials, it is necessary to accurately measure utrophin levels and other biomarkers on a fibre by fibre basis within a biopsy section. Our aim was to develop robust and reproducible staining and imaging protocols to quantify sarcolemmal utrophin levels, sarcolemmal dystrophin complex members and numbers of regenerating fibres within a biopsy section. We quantified sarcolemmal utrophin in mature and regenerating fibres and the percentage of regenerating muscle fibres, in muscle biopsies from Duchenne, the milder Becker muscular dystrophy and controls. Fluorescent immunostaining followed by image analysis was performed to quantify utrophin intensity and β-dystrogylcan and ɣ -sarcoglycan intensity at the sarcolemma. Antibodies to fetal and developmental myosins were used to identify regenerating muscle fibres allowing the accurate calculation of percentage regeneration fibres in the biopsy. Our results indicate that muscle biopsies from Becker muscular dystrophy patients have fewer numbers of regenerating fibres and reduced utrophin intensity compared to muscle biopsies from Duchenne muscular dystrophy patients. Of particular interest, we show for the first time that the percentage of regenerating muscle fibres within the muscle biopsy correlate with the clinical severity of Becker and Duchenne muscular dystrophy patients from whom the biopsy was taken. The ongoing development of these tools to quantify

  3. Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

    Directory of Open Access Journals (Sweden)

    Narinder Janghra

    Full Text Available Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction in muscle mass and function. There is evidence from dystrophin-deficient mouse models that increasing levels of utrophin at the muscle fibre sarcolemma by genetic or pharmacological means significantly reduces the muscular dystrophy pathology. In order to determine the efficacy of utrophin modulators in clinical trials, it is necessary to accurately measure utrophin levels and other biomarkers on a fibre by fibre basis within a biopsy section. Our aim was to develop robust and reproducible staining and imaging protocols to quantify sarcolemmal utrophin levels, sarcolemmal dystrophin complex members and numbers of regenerating fibres within a biopsy section. We quantified sarcolemmal utrophin in mature and regenerating fibres and the percentage of regenerating muscle fibres, in muscle biopsies from Duchenne, the milder Becker muscular dystrophy and controls. Fluorescent immunostaining followed by image analysis was performed to quantify utrophin intensity and β-dystrogylcan and ɣ -sarcoglycan intensity at the sarcolemma. Antibodies to fetal and developmental myosins were used to identify regenerating muscle fibres allowing the accurate calculation of percentage regeneration fibres in the biopsy. Our results indicate that muscle biopsies from Becker muscular dystrophy patients have fewer numbers of regenerating fibres and reduced utrophin intensity compared to muscle biopsies from Duchenne muscular dystrophy patients. Of particular interest, we show for the first time that the percentage of regenerating muscle fibres within the muscle biopsy correlate with the clinical severity of Becker and Duchenne muscular dystrophy patients from whom the biopsy was taken. The ongoing development of these

  4. Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.

    Science.gov (United States)

    Ciafaloni, Emma; Kumar, Anil; Liu, Ke; Pandya, Shree; Westfield, Christina; Fox, Deborah J; Caspers Conway, Kristin M; Cunniff, Christopher; Mathews, Katherine; West, Nancy; Romitti, Paul A; McDermott, Michael P

    2016-01-01

    We investigated the prognostic utility of onset age at first signs and symptoms (SS) to predict onset age at loss of ambulation (LOA) for childhood-onset Duchenne and Becker Muscular Dystrophies (DBMD). Our cohort comprised male cases with DBMD ascertained by the population-based Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using Cox proportional hazards models for associations between onset ages of first SS and LOA. Covariates controlled for were corticosteroid use, family history of DBMD, birth year, race/ethnicity, and MD STARnet site. Onset age at first SS was considered as a continuous and as a categorical variable. A one-year increase in onset age at first SS was significantly associated with a 10% reduction in annual risk of LOA (HR = 0.90, CI = 0.87-0.94). Treating onset age at first SS as a categorical variable yielded a similar association (≥ 5 years: referent; ≥ 3 to Becker muscular dystrophies.

  5. Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril.

    Science.gov (United States)

    Mavrogeni, Sophie; Giannakopoulou, Aikaterini; Papavasiliou, Antigoni; Markousis-Mavrogenis, George; Pons, Roser; Karanasios, Evangelos; Noutsias, Michel; Kolovou, Genovefa; Papadopoulos, George

    2017-07-24

    To evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). This is a single point cross sectional study of twenty-four boys with genetically ascertained DMD, and 10 with BMD, aged 10.5 ± 1.5 years (range 9-13), were prospectively evaluated by a 1.5 T system and compared with those of age-sex matched controls. The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment with deflazacort, only. BMD patients did not take any medication. Biventricular function was assessed using a standard SSFP sequence. Late gadolinium enhancement (LGE) was assessed from T1 images taken 15 min after injection of 0.2 mg/Kg gadolinium DTPA using a 3D-T1-TFE sequence. Group A and BMDs were asymptomatic with normal ECG, 24 h ECG recording and echocardiogram. Group B were asymptomatic but 6/12 had abnormal ECG and mildly impaired LVEF. Their 24 h ECG recording revealed supraventricular and ventricular extrasystoles (all at 12-13 yrs). LV indices in Group A and BMD did not differ from those of controls. However, LV indices in Group B were significantly impaired compared with controls, Group A and BMDs (p < 0.001). An epicardial LGE area = 3 ± 0.5% of LV mass was identified in the posterolateral wall of LV only in 6/12 patients of Group B, but in not in any BMD or Group A. Children with either BMD or DMD under treatment with both deflazacort and perindopril present preserved LV function and lack of LGE. However, further large scale multicenter studies are warranted to confirm these data, including further CMR mapping approaches.

  6. Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach

    Directory of Open Access Journals (Sweden)

    Thiene Gaetano

    2008-11-01

    Full Text Available Abstract Background Becker-Kiener muscular dystrophy (BMD represents an X-linked genetic disease associated with myocardial involvement potentially resulting in dilated cardiomyopathy (DCM. Early diagnosis of cardiac involvement may permit earlier institution of heart failure treatment and extend life span in these patients. Both echocardiography and nuclear imaging methods are capable of detecting later stages of cardiac involvement characterised by wall motion abnormalities. Cardiovascular magnetic resonance (CMR has the potential to detect cardiac involvement by depicting early scar formation that may appear before onset of wall motion abnormalities. Methods In a prospective two-center-study, 15 male patients with BMD (median age 37 years; range 11 years to 56 years underwent comprehensive neurological and cardiac evaluations including physical examination, echocardiography and CMR. A 16-segment model was applied for evaluation of regional wall motion abnormalities (rWMA. The CMR study included late gadolinium enhancement (LGE imaging with quantification of myocardial damage. Results Abnormal echocardiographic results were found in eight of 15 (53.3% patients with all of them demonstrating reduced left ventricular ejection fraction (LVEF and rWMA. CMR revealed abnormal findings in 12 of 15 (80.0% patients (p = 0.04 with 10 (66.6% having reduced LVEF (p = 0.16 and 9 (64.3% demonstrating rWMA (p = 0.38. Myocardial damage as assessed by LGE-imaging was detected in 11 of 15 (73.3% patients with a median myocardial damage extent of 13.0% (range 0 to 38.0%, an age-related increase and a typical subepicardial distribution pattern in the inferolateral wall. Ten patients (66.7% were in need of medical heart failure therapy based on CMR results. However, only 4 patients (26.7% were already taking medication based on clinical criteria (p = 0.009. Conclusion Cardiac involvement in patients with BMD is underdiagnosed by echocardiographic methods resulting

  7. Becker muscular dystrophy

    Science.gov (United States)

    The health care provider will do a nervous system (neurological) and muscle exam. A careful medical history is also important, ... the legs and pelvis, then moves to the muscles of the shoulders, ... respiratory system Tests that may be done include: CPK blood ...

  8. The ultrasound-guided nerve blocks of abdominal wall contributed to anesthetic management of cholecystectomy in a patient with Becker muscular dystrophy without using muscle relaxants.

    Science.gov (United States)

    Iwata, Masato; Kuzumoto, Naoya; Akasaki, Yuka; Morioka, Masayo; Nakayama, Kana; Matsuzawa, Nobuyoshi; Kimoto, Katsuhiro; Shimomura, Toshiyuki

    2017-01-01

    Becker muscular dystrophy (BMD) is a progressive neuromuscular disorder caused by mutations in the dystrophin gene. The sensitivity to non-depolarizing muscle relaxant in a patient with muscle dystrophy is reportedly higher than that in normal individuals, and the duration of the effect is known to be prolonged. In this report, we present the case of a 58-year-old man with BMD who underwent laparoscopic cholecystectomy for symptomatic cholelithiasis under total intravenous anesthesia without the use of muscle-relaxant drugs and supplemented with regional anesthesia. Anesthesia was induced and maintained with propofol, remifentanil, and fentanyl; ultrasound-guided bilateral rectus sheath block (RSB) and right-sided subcostal transversus abdominis plane block (TAP) were performed. The procedure required conversion to open surgery because of hard conglutination; intraoperative and postoperative periods were uneventful. Adequate analgesia was maintained after extubation because of the effect of RSB and TAP.

  9. Abnormal short-latency synaptic plasticity in the motor cortex of subjects with Becker muscular dystrophy: a rTMS study.

    Science.gov (United States)

    Golaszewski, Stefan; Schwenker, Kerstin; Bergmann, Jürgen; Brigo, Francesco; Christova, Monica; Trinka, Eugen; Nardone, Raffaele

    2016-01-01

    We used repetitive transcranial magnetic stimulation (rTMS) to further investigate motor cortex excitability in 13 patients with Becker muscular dystrophy (BMD), six of them with slight mental retardation. RTMS delivered at 5Hz frequency and suprathreshold intensity progressively increases the size of motor evoked potentials (MEPs) in healthy subjects; the rTMS-induced facilitation of MEPs was significantly reduced in the BMD patients mentally retarded or classified as borderline when compared with age-matched control subjects and the BMD patients with normal intelligence. The increase in the duration of the cortical silent period was similar in both patient groups and controls. These findings suggest an altered cortical short-term synaptic plasticity in glutamate-dependent excitatory circuits within the motor cortex in BMD patients with intellectual disabilities. RTMS studies may shed new light on the physiological mechanisms of cortical involvement in dystrophinopathies. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  10. Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

    Science.gov (United States)

    Cho, Anna; Seong, Moon-Woo; Lim, Byung Chan; Lee, Hwa Jeen; Byeon, Jung Hye; Kim, Seung Soo; Kim, Soo Yeon; Choi, Sun Ah; Wong, Ai-Lynn; Lee, Jeongho; Kim, Jon Soo; Ryu, Hye Won; Lee, Jin Sook; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Ki Joong; Hwang, Young Seung; Hong, Ki Ho; Park, Seungman; Cho, Sung Im; Lee, Seung Jun; Park, Hyunwoong; Seo, Soo Hyun; Park, Sung Sup; Chae, Jong Hee

    2017-05-01

    Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene. We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing. Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications accounted for 65.4% and 13.3% of Korean dystrophinopathy, respectively, suggesting that the incidence of large rearrangements in dystrophin is similar among different ethnic groups. We also detected sequence variations in >100 probands. The small variations were dispersed across the whole gene, and 12.3% were nonsense mutations. Precise genetic characterization in patients with DMD/BMD is timely and important for implementing nationwide registration systems and future molecular therapeutic trials in Korea and globally. Muscle Nerve 55: 727-734, 2017. © 2016 Wiley Periodicals, Inc.

  11. Willingness to pay for small solar powered bed net fans: results of a Becker-DeGroot-Marschak auction in Ghana.

    Science.gov (United States)

    Yukich, Joshua O; Briët, Olivier J T; Ahorlu, Collins K; Nardini, Peter; Keating, Joseph

    2017-08-07

    Long-lasting insecticidal nets (LLINs) are one of the main interventions recommended by the World Health Organization for malaria vector control. LLINs are ineffective if they are not being used. Subsequent to the completion of a cluster randomized cross over trial conducted in rural Greater Accra where participants were provided with the 'Bɔkɔɔ System'-a set of solar powered net fan and light consoles with a solar panel and battery-or alternative household water filters, all trial participants were invited to participate in a Becker-DeGroot-Marschak auction to determine the mean willingness to pay (WTP) for the fan and light consoles and to estimate the demand curve for the units. Results demonstraed a mean WTP of approximately 55 Cedis (~13 USD). Demand results suggested that at a price which would support full manufacturing cost recovery, a majority of households in the area would be willing to purchase at least one such unit.

  12. Linkage disequilibria among (CA){sub n} polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker musclar dystrophies

    Energy Technology Data Exchange (ETDEWEB)

    Chakraborty, R.; Zhong, Y.; Andrade, M. de [Univ. of Texas Graduate School of Biomedical Sciences, Houston, TX (United States)] [and others

    1994-06-01

    Four short tandem repeat loci, characterized by length polymorphisms of (CA){sub n} repeats, have been detected within introns 44, 45, 49, and 50 of the human dystrophin gene. The predicted heterozygosites for these loci range from 72 to 93%, and observed allele numbers range from 6 to 19 in 57 normal chromosomes, revealing their high degree of polymorphism. Evidence for significant disequilibria between the loci within introns 49 and 50 is found. These data appear to be consistent with observations of recombination frequencies between these markers and the length of the intron 44 in relation to the entire region. In addition, these four loci are collectively found to be 100% informative in carrier detection/prenatal diagnosis of Becker and Duchenne muscular dystrophies (B/DMD), whereas scoring the (CA){sub n} markers within introns 45 and 49 alone gives a 99.6% success rate. 13 refs., 4 tabs.

  13. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

    Science.gov (United States)

    Lim, Byung Chan; Lee, Seungbok; Shin, Jong-Yeon; Kim, Jong-Il; Hwang, Hee; Kim, Ki Joong; Hwang, Yong Seung; Seo, Jeong-Sun; Chae, Jong Hee

    2011-11-01

    Duchenne muscular dystrophy or Becker muscular dystrophy might be a suitable candidate disease for application of next-generation sequencing in the genetic diagnosis because the complex mutational spectrum and the large size of the dystrophin gene require two or more analytical methods and have a high cost. The authors tested whether large deletions/duplications or small mutations, such as point mutations or short insertions/deletions of the dystrophin gene, could be predicted accurately in a single platform using next-generation sequencing technology. A custom solution-based target enrichment kit was designed to capture whole genomic regions of the dystrophin gene and other muscular-dystrophy-related genes. A multiplexing strategy, wherein four differently bar-coded samples were captured and sequenced together in a single lane of the Illumina Genome Analyser, was applied. The study subjects were 25 16 with deficient dystrophin expression without a large deletion/duplication and 9 with a known large deletion/duplication. Nearly 100% of the exonic region of the dystrophin gene was covered by at least eight reads with a mean read depth of 107. Pathogenic small mutations were identified in 15 of the 16 patients without a large deletion/duplication. Using these 16 patients as the standard, the authors' method accurately predicted the deleted or duplicated exons in the 9 patients with known mutations. Inclusion of non-coding regions and paired-end sequence analysis enabled accurate identification by increasing the read depth and providing information about the breakpoint junction. The current method has an advantage for the genetic diagnosis of Duchenne muscular dystrophy and Becker muscular dystrophy wherein a comprehensive mutational search may be feasible using a single platform.

  14. [Rolf Hammel-Kiesow. Der Lübecker Katasterplan des 19. Jahrhunderts als historische Quelle. Überlegungen zur Stadtentwicklung Lübecks aus archäologischer, historischer und bauhistorischen Zicht] / Dennis Hormuth

    Index Scriptorium Estoniae

    Hormuth, Dennis

    2013-01-01

    Arvustus : Rolf Hammel-Kiesow. Der LÜbecker Katasterplan des 19. Jahrhunderts als historische Quelle. Überlegungen zur Stadtentwicklung Lübecks aus archäologischer, historischer und bauhistorischen Sicht. In: Stadtgründung und Stadterweiterung. Beiträge von Archäologie und Stadtgeschichtsforschung (=Beiträge zur Geschichte der Städte Mitteleuropas XXII). Linz, 2011. S. 75-104

  15. Becker muscular dystrophy-like myopathy regarded as so-called "fatty muscular dystrophy" in a pig: a case report and its diagnostic method.

    Science.gov (United States)

    Horiuchi, Noriyuki; Aihara, Naoyuki; Mizutani, Hiroshi; Kousaka, Shinichi; Nagafuchi, Tsuneyuki; Ochiai, Mariko; Ochiai, Kazuhiko; Kobayashi, Yoshiyasu; Furuoka, Hidefumi; Asai, Tetsuo; Oishi, Koji

    2014-03-01

    We describe a case of human Becker muscular dystrophy (BMD)-like myopathy that was characterized by the declined stainability of dystrophin at sarcolemma in a pig and the immunostaining for dystrophin on the formalin-fixed, paraffin-embedded (FFPE) tissue. The present case was found in a meat inspection center. The pig looked appeared healthy at the ante-mortem inspection. Muscular abnormalities were detected after carcass dressing as pale, discolored skeletal muscles with prominent fat infiltrations and considered so-called "fatty muscular dystrophy". Microscopic examination revealed following characteristics: diffused fat infiltration into the skeletal muscle and degeneration and regeneration of the remaining skeletal muscle fibers. Any lesions that were suspected of neurogenic atrophy, traumatic muscular degeneration, glycogen storage disease or other porcine muscular disorders were not observed. The immunostaining for dystrophin was conducted and confirmed to be applicable on FFPE porcine muscular tissues and revealed diminished stainability of dystrophin at the sarcolemma in the present case. Based on the histological observations and immunostaining results, the present case was diagnosed with BMD-like myopathy associated with dystrophin abnormality in a pig. Although the genetic properties were not clear, the present BMD-like myopathy implied the occurrence of dystrophinopathy in pigs. To the best of our knowledge, this is the first report of a natural case of myopathy associated with dystrophin abnormalities in a pig.

  16. Comparison of the clinical state and its changes in patients with Duchenne and Becker muscular dystrophy with results of in vivo 31P magnetic resonance spectroscopy

    International Nuclear Information System (INIS)

    Hajek, M.; Grosmanova, A.; Horska, A.; Urban, P.

    1993-01-01

    A total of 14 boys with the Duchenne and Becker forms of muscular dystrophy (DMD, BMD) were examined using 31 P magnetic resonance (MR) spectroscopy; 12 boys were examined repeatedly. The results were correlated with clinical findings (including those of genetic tests) and with data obtained from examinations of an age-matched control group. Evaluation of results using principal component analysis revealed maximum variability in the following ratios: phosphocreatine/inorganic phosphate (PCr/Pi), phosphocreatine/phosphodiesters (PCr/PDe) and phosphocreatine/phosphomonoesters (PCr/PMe). A decrease in PCr/Pi correlates with weakness of the hip girdle and of the lower part of the shoulder girdle in DMD/BMD patients. The values of all ratios in the group of patients with the DMD phenotype differ significantly from results obtained in the group with the BMD phenotype. Continuous follow-up of patients using 31 P MR spectroscopy revealed a marked decrease in PCr/Pi in DMD/BMD patients at an age that could be expected in subjects with a typical clinical course of DMD/BMD. An attempt to manage a concomitant disease with prednisone and carnitene was followed by an increase in PCr/Pi in 3 cases. A rise in the PCr/Pi ratio signalled clinical improvement in the patients. A decrease in PCr/Pi was found after controlled physical training, a finding consistent with data obtained from clinical observations describing an adverse effect of physical stress on the dystrophic process. (orig.)

  17. Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup.

    Science.gov (United States)

    Matsumoto, Masaaki; Awano, Hiroyuki; Lee, Tomoko; Takeshima, Yasuhiro; Matsuo, Masafumi; Iijima, Kazumoto

    2017-11-01

    Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS). The mean height SDS of DMD was -1.08 SD that was significantly smaller than normal (p < 0.001), indicating short stature of Japanese DMD. Furthermore, the mean height SDS of BMD was -0.27 SD, suggesting shorter stature than normal. Remarkably, the mean height SDS of DMD was significantly smaller than that of BMD (p < 0.0001). In DMD higher incidence of short stature (height SDS < -2.5 SD) was observed in Dp71 subgroup having mutations in dystrophin exons 63-79 than others having mutations in exons 1-62 (27.8% vs. 7.5%, p = 0.017). These suggested that height is influenced by dystrophin in not only DMD but also BMD and that dystrophin Dp71 has a role in height regulation. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.

    Science.gov (United States)

    Tsuda, Takeshi; Fitzgerald, Kristi; Scavena, Mena; Gidding, Samuel; Cox, Mary O; Marks, Harold; Flanigan, Kevin M; Moore, Steven A

    2015-03-01

    We report a family in which two male siblings with Becker muscular dystrophy (BMD) developed severe dilated cardiomyopathy (DCM) and progressive heart failure (HF) at age 11 years; one died at age 14 years while awaiting heart transplant and the other underwent left ventricular assist device implantation at the same age. Genetic analysis of one sibling showed a novel frameshift mutation in exon 27 of Duchenne muscular dystrophy (DMD) gene (c.3779_3785delCTTTGGAinsGG), in which seven base pairs are deleted and two are inserted. Although this predicts an amino-acid substitution and premature termination (p.Thr1260Argfs*8), muscle biopsy dystrophin immunostaining instead indicates that the mutation is more likely to alter splicing. Despite relatively preserved skeletal muscular performance, both the siblings developed progressive HF secondary to early-onset DCM. In addition, their 7-year-old nephew with delayed gross motor development, mild proximal muscle weakness and markedly elevated serum creatine kinase level (>13 000 IU l(-1)) at 16 months was recently demonstrated to have the familial DMD mutation. Here, we report a novel genotype of BMD with early-onset DCM and progressive lethal HF during early adolescence.

  19. Comparison of the clinical state and its changes in patients with Duchenne and Becker muscular dystrophy with results of in vivo {sup 31}P magnetic resonance spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Hajek, M [MR Unit, Inst. for Clinical and Experimental Medicine, Prague (Czech Republic); Grosmanova, A [Dept. of Neuropediatrics, Thomayer` s Hospital, Prague (Czech Republic); Horska, A [MR Unit, Inst. for Clinical and Experimental Medicine, Prague (Czech Republic); Urban, P [Dept. of Analytical Chemistry, Prague Inst. of Chemical Technology (Czech Republic)

    1993-12-01

    A total of 14 boys with the Duchenne and Becker forms of muscular dystrophy (DMD, BMD) were examined using {sup 31}P magnetic resonance (MR) spectroscopy; 12 boys were examined repeatedly. The results were correlated with clinical findings (including those of genetic tests) and with data obtained from examinations of an age-matched control group. Evaluation of results using principal component analysis revealed maximum variability in the following ratios: phosphocreatine/inorganic phosphate (PCr/Pi), phosphocreatine/phosphodiesters (PCr/PDe) and phosphocreatine/phosphomonoesters (PCr/PMe). A decrease in PCr/Pi correlates with weakness of the hip girdle and of the lower part of the shoulder girdle in DMD/BMD patients. The values of all ratios in the group of patients with the DMD phenotype differ significantly from results obtained in the group with the BMD phenotype. Continuous follow-up of patients using {sup 31}P MR spectroscopy revealed a marked decrease in PCr/Pi in DMD/BMD patients at an age that could be expected in subjects with a typical clinical course of DMD/BMD. An attempt to manage a concomitant disease with prednisone and carnitene was followed by an increase in PCr/Pi in 3 cases. A rise in the PCr/Pi ratio signalled clinical improvement in the patients. A decrease in PCr/Pi was found after controlled physical training, a finding consistent with data obtained from clinical observations describing an adverse effect of physical stress on the dystrophic process. (orig.)

  20. A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

    Science.gov (United States)

    Zimowski, Janusz G; Pilch, Jacek; Pawelec, Magdalena; Purzycka, Joanna K; Kubalska, Jolanta; Ziora-Jakutowicz, Karolina; Dudzińska, Magdalena; Zaremba, Jacek

    2017-08-01

    In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation-a single exon 48 deletion of the dystrophin gene-who were affected with a very mild or subclinical form of BMD. They were usually detected thanks to accidental findings of elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis of the carriers, both children (12) and adults (5), revealed in some of them muscle hypotonia (10/17) and/or very mild muscle weakness (9/17), as well as decreased tendon reflexes (6/17). Adults, apart from very mild muscle weakness and calf hypertrophy in some, had no significant abnormalities on neurological assessments and had good exercise tolerance. Parents of the children carriers of the exon 48 deletion are usually unaware of their children being affected, and possibly at risk of developing life-threatening cardiomyopathy. The same concerns the adult male carriers. Therefore, the authors postulate undertaking preventive measures such as cascade screening of the relatives of the probands. Newborn screening programmes of Duchenne muscular dystrophy (DMD)/BMD based on sCPK marked increase may be considered.

  1. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease carrying a new mutation in the CLCN1 gene

    Directory of Open Access Journals (Sweden)

    Fernando Morales

    2008-03-01

    Full Text Available Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The clinical diagnosis was established using ocular, cardiac, neurological and electrophysiological tests and the molecular diagnosis was done by PCR, SSCP and sequencing of the CLCN1 gene. The proband and the other affected individuals exhibited proximal and distal muscle weakness but no hypertrophy or muscular pain was found. The myotatic reflexes were lessened and sensibility was normal. Electrical and clinical myotonia was found only in the sufferers. Slit lamp and electrocardiogram tests were normal. Two affected probands presented diminution of the sensitive conduction velocities and prolonged sensory distal latencies. The clinical spectrum for this family is in agreement with a clinical diagnosis of Becker myotonia. This was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P was found in the family and absent in 200 unaffected chromosomes. No latent myotonia was found in this family; therefore the ability to cause this subclinical sign might be intrinsic to each mutation. Implications of the structure-function-genotype relationship for this and other mutations are discussed. Adequate clinical diagnosis of a neuromuscular disorder would allow focusing the molecular studies toward the confirmation of the initial diagnosis, leading to a proper clinical management, genetic counseling and improving in the quality of life of the patients and relatives. Rev. Biol. Trop. 56 (1: 1-11. Epub 2008 March 31.La miotonía congénita es una enfermedad muscular caracterizada por miotonía, hipertrofia y rigidez. Se presenta con dos patrones de herencia, autosómica dominante en cuyo

  2. Patients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks

    Directory of Open Access Journals (Sweden)

    M.C. Artilheiro

    Full Text Available This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs (UL in patients with Duchenne and Becker muscular dystrophies (DMD/BMD, to compare UL performance of patients and healthy subjects and to investigate the relationship between timed performance of UL and age, motor function and muscle strength in DMD/BMD patients. Sixteen patients with DMD and 3 with BMD were evaluated with Jebsen-Taylor Test (timed performance, Vignos scale and Dimension 3 of Motor Function Measure (motor function, and Medical Research Council scale (muscle strength on a single session. ANOVA showed no asymmetry between dominant and non-dominant UL, except in the writing subtest, in patients and in healthy controls. There were relationships between dominant and non-dominant UL performances. Correlations between timed performance, motor function and muscle strength were found, but age was not correlated with these variables. These findings may reduce the assessment time, prevent fatigue and provide more accurate clinical reasoning involving UL in DMD/BMD treatment.

  3. The interactive effect of phosphorus and nitrogen on "in vitro" spore germination of Glomus etunicatum Becker & Gerdemann, root growth and mycorrhizal colonization

    Directory of Open Access Journals (Sweden)

    Bressan Wellington

    2001-01-01

    Full Text Available The effects of P and N amendment and its interactions on spore germination, root growth and colonized root length by Glomus etunicatum Becker & Gerdemann (INVAM S329 was studied "in vitro" in RiT - DNA transformed roots of Anthylis vulneraria sub sp. Sampaiana (Kidney vetch. Three N media concentrations (5, 10 and 50 mg/l at P constant level (2 mg/l and three P media concentrations (2, 10 and 20 mg/l at N constant level (5 mg/l were utilized as a treatment. Bécard & Fortin medium was used as a basal medium for root growth and colonized root length, and water/agar (0.8% media was the control for spore germination. Spore germination of G. etunicatum at low P level was reduced by N addition in relation to the control media, and at low N level addition of P stimulated spore germination. Total root length was stimulated by N addtion at low P level, but no significant difference (p£0.05 was observed between 10 and 50 mg/l of N. P addition at low N level media also stimulated total root growth, and a significant difference (p£0.05 was observed among P concentrations. Colonized root length by G. etunicatum increased significantly (p£0.05 with P additions at low N levels. Under low P level no significant differences was found between 10 and 50 mg/l of N. These results demonstrate that the interaction between P and N affect differently spore germination, root growth and colonized root lenght.

  4. Reliability of hand-held dynamometry for measurement of lower limb muscle strength in children with Duchenne and Becker muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Wei SHI

    2015-05-01

    Full Text Available Objective To determine the reliability of hand-held dynamometry (HHD for lower limb isometric muscle strength measurement in children with Duchenne and Becker muscular dystrophy (DMD/BMD.  Methods A total of 21 children [20 males and one female; mean age was (7.88 ± 2.87 years, ranging between 3.96-14.09 years; mean age at diagnosis was (5.88 ± 2.88 years, ranging between 1.35-12.89 years; mean height was (120.64 ± 16.30 cm, ranging between 97-153 cm; mean body weight was (24.62 ± 9.05 kg, ranging between 14-50 kg] with DMD (19/21 and BMD (2/21 were involved from Rehabilitation Center of Children's Hospital of Fudan University. The muscle strength of hip, knee and ankle was measured by HHD under standardized test methods. The test-retest results were compared to determine the inter-test reliability, and the results among testers were compared to determine the inter-tester reliability.  Results HHD showed fine inter-tester reliability (ICC = 0.762-0.978 and inter-test reliability (ICC = 0.690-0.938 in measuring lower limb muscle strength of children with DMD/BMD. Results also showed relatively poor reliability in distal muscle groups (foot plantar flexion and dorsiflexion.  Conclusions HHD, showing fine inter-tester and inter-test reliability in measuring the lower limb muscle strength of children with DMD/BMD, can be used in monitoring muscle strength changing and assessing effects of clinical interventions. DOI: 10.3969/j.issn.1672-6731.2015.05.009

  5. Transplantation of human umbilical cord-derived mesenchymal stems cells for the treatment of Becker muscular dystrophy in affected pedigree members.

    Science.gov (United States)

    Li, Pang; Cui, Kai; Zhang, Bo; Wang, Zhendan; Shen, Yangyang; Wang, Xiangyu; Zhang, Jianbo; Tong, Feng; Li, Sheng

    2015-04-01

    The regeneration of muscle tissue has been achieved using multipotent mesenchymal stem cells in mouse models of injured skeletal muscle. In the present study, the utility of multipotent human umbilical cord-derived mesenchymal stem cells (hUC-MSCs) in the treatment of Becker muscular dystrophy (BMD), a genetic disease where muscle tissue fails to regenerate, was examined in members from a pedigree affected by BMD. The disease status was evaluated in 4 affected pedigree members (II1, II2, II3 and III2; aged 50, 46, 42 and 6 years, respectively). The transplantation of the hUC‑MSCs (performed on 3 patients, I2, II3 and III2) was performed by infusion with an intravenous drip over a 30‑min period, and the patients were evaluated at 1, 3, 4 and 12 weeks following the procedure. The evaluation was based on physical characteristics, as well as on molecular testing for serum creatine kinase (CK) and lactate dehydrogenase (LDH) levels and a histological examination of muscle biopsies. The patients suffered no adverse reactions in response to the transplantation of the hUC‑MSCs. At 1 week following transplantation all 3 patients showed improvement in the muscle force of the limbs, muscle size and daily activity. The walking gait of patient III2 had improved by 1 week post-transplantation and reached a normal status by 12 weeks. Serum CK and LDH levels were decreased relative to the baseline levels. A histological examination of muscle biopsies displayed no obvious tissue regeneration. In conclusion, the treatment of patients with BMD using hUC-MSCs was safe and of therapeutic benefit that lasted for up to 12 weeks. hUC-MSCs are, therefore, a potential cell therapy-based treatment option for patients with muscular dystrophies.

  6. Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy.

    Science.gov (United States)

    McCourt, Jackie L; Talsness, Dana M; Lindsay, Angus; Arpke, Robert W; Chatterton, Paul D; Nelson, D'anna M; Chamberlain, Christopher M; Olthoff, John T; Belanto, Joseph J; McCourt, Preston M; Kyba, Michael; Lowe, Dawn A; Ervasti, James M

    2018-02-01

    Missense mutations in the dystrophin protein can cause Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) through an undefined pathomechanism. In vitro studies suggest that missense mutations in the N-terminal actin-binding domain (ABD1) cause protein instability, and cultured myoblast studies reveal decreased expression levels that can be restored to wild-type with proteasome inhibitors. To further elucidate the pathophysiology of missense dystrophin in vivo, we generated two transgenic mdx mouse lines expressing L54R or L172H mutant dystrophin, which correspond to missense mutations identified in human patients with DMD or BMD, respectively. Our biochemical, histologic and physiologic analysis of the L54R and L172H mice show decreased levels of dystrophin which are proportional to the phenotypic severity. Proteasome inhibitors were ineffective in both the L54R and L172H mice, yet mice homozygous for the L172H transgene were able to express even higher levels of dystrophin which caused further improvements in muscle histology and physiology. Given that missense dystrophin is likely being degraded by the proteasome but whole body proteasome inhibition was not possible, we screened for ubiquitin-conjugating enzymes involved in targeting dystrophin to the proteasome. A myoblast cell line expressing L54R mutant dystrophin was screened with an siRNA library targeting E1, E2 and E3 ligases which identified Amn1, FBXO33, Zfand5 and Trim75. Our study establishes new mouse models of dystrophinopathy and identifies candidate E3 ligases that may specifically regulate dystrophin protein turnover in vivo. © The Author(s) 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.

    Science.gov (United States)

    Vengalil, Seena; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Mahadevappa, Manjunath; Sekar, Deepha; Purushottam, Meera; Thomas, Priya Treesa; Nashi, Saraswathi; Nalini, Atchayaram

    2017-01-01

    Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India. The 317 patients comprised 279 cases of DMD (88%), 32 of BMD (10.1%), and 6 of intermediate phenotype (1.9%). Deletions accounted for 91.8% of cases, with duplications causing the remaining 8.2%. There were 254 cases of DMD (91%) with deletions and 25 (9%) due to duplications, and 31 cases (96.8%) of BMD with deletions and 1 (3.2%) due to duplication. All six cases of intermediate type were due to deletions. The most-common mutation was a single-exon deletion. Deletions of six or fewer exons constituted 68.8% of cases. The deletion of exon 50 was the most common. The reading-frame rule held in 90% of DMD and 94% of BMD cases. A tendency toward a lower IQ and earlier wheelchair dependence was observed with distal exon deletions, though a significant correlation was not found. The reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world. However, testing by MLPA is a limitation, and advanced sequencing methods including analysis of the structure of mutant dystrophin is needed for more-accurate assessments of the genotype-phenotype correlation.

  8. The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study.

    Science.gov (United States)

    Fischer, Dirk; Hafner, Patricia; Rubino, Daniela; Schmid, Maurice; Neuhaus, Cornelia; Jung, Hans; Bieri, Oliver; Haas, Tanja; Gloor, Monika; Fischmann, Arne; Bonati, Ulrike

    2016-07-01

    Becker muscular dystrophy (BMD) has an incidence of 1 in 16 000 male births. This cross-sectional study investigated the relation between validated functional scores and quantitative MRI (qMRI) of thigh muscles in 20 ambulatory BMD patients, aged 18.3-60 years (mean 31.2; SD 11.1). Clinical assessments included the motor function measure (MFM) and its subscales, as well as timed function tests such as the 6-minute walk test (6MWT) and the timed 10-m run/walk test. Quantitative MRI of the thigh muscles included the mean fat fraction (MFF) using a 2-point Dixon (2-PD) technique, and transverse relaxation time (T2) measurements. The mean MFM value was 80.4%, SD 9.44 and the D1 subscore 54.5%, SD 19.9. The median 6MWT was 195m, IQR 160-330.2. The median 10-m run/walk test was 7.4 seconds, IQR 6.1-9.3. The mean fat fraction of the thigh muscles was 55.6%, SD 17.4%, mean T2 relaxation times of all muscles: 69.9 ms, SD 14.4. The flexors had the highest MFF and T2 relaxation times, followed by the extensors and the adductors. MFF and global T2 relaxation times were highly negatively correlated with the MFM total, D1-subscore and 6MWT, and positively correlated with the 10 m run/walk test time (p < 0.01). Age was not correlated with MFF, global T2 relaxation time or clinical assessments. Both MFF and T2 measures in the thigh muscle were well correlated with clinical function in BMD and may serve as a surrogate outcome measure in clinical trials. Copyright © 2016 Elsevier B.V. All rights reserved.

  9. Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.

    Science.gov (United States)

    Mori-Yoshimura, Madoka; Mitsuhashi, Satomi; Nakamura, Harumasa; Komaki, Hirofumi; Goto, Kanako; Yonemoto, Naohiro; Takeuchi, Fumi; Hayashi, Yukiko K; Murata, Miho; Takahashi, Yuji; Nishino, Ichizo; Takeda, Shin'ichi; Kimura, En

    2018-01-01

    Obtaining an adequate number of patients to conduct a natural history study for rare diseases such as Becker muscular dystrophy (BMD) is difficult. The present study used data from Remudy, a national registry for neuromuscular diseases in Japan, to conduct a phenotypic analysis of BMD. We analyzed Remudy data of participants with dystrophinopathy. All participants who were aged 17 and older and were ambulant at age 13 were included in this study. Participants were divided into two groups: those with BMD who were ambulant at age 17, and those with intermediate muscular dystrophy (IMD) who lost ambulation by age 17. Frequent mutations were analyzed by age at ambulation, cardiopulmonary function, and genotype. For clinical comparisons, participants who were administered steroids were excluded. From July 2009 through September 2015, 192 participants had registered with Remudy. Mean participant age was 34.80±13.3 (range, 17-78) years, and 52.1% of participants were ambulant. Of the entire study population, 50.5% had cardiomyopathy and 35.9% had respiratory failure. Three participants required invasive ventilation and 30 required non-invasive ventilation. Nineteen of the 30 non-invasive ventilator users were part-time users. In total, 138 (71.9%) had BMD and 54 (28.1%) had IMD. The most frequent mutation was ex45_ex47del (36 participants). Among participants with frequent in-frame mutations, those with the ex45-49del mutation lost their ambulation earlier than those with the ex45_ex47del mutation. A total of 67 different exon deletions and duplications were identified in the study population. We clarified the clinical phenotypes of Japanese patients with BMD/IMD using data from Remudy. Our results suggest that not only IMD but also BMD are associated with risk of respiratory dysfunction.

  10. Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.

    Science.gov (United States)

    Magliano, Lorenza; D'Angelo, Maria Grazia; Vita, Giuseppe; Pane, Marika; D'Amico, Adele; Balottin, Umberto; Angelini, Corrado; Battini, Roberta; Politano, Luisa; Patalano, Melania; Sagliocchi, Alessandra; Civati, Federica; Brighina, Erika; Vita, Gian Luca; Messina, Sonia; Sframeli, Maria; Lombardo, Maria Elena; Scalise, Roberta; Colia, Giulia; Catteruccia, Maria; Berardinelli, Angela; Motta, Maria Chiara; Gaiani, Alessandra; Semplicini, Claudio; Bello, Luca; Astrea, Guja; Zaccaro, Antonella; Scutifero, Marianna

    2014-12-01

    This study explored the burden in parents and healthy siblings of 4-17 year-old patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, and whether the burden varied according to clinical aspects and social resources. Data on socio-demographic characteristics, patient's clinical history, parent and healthy children burden, and on parent's social resources were collected using self-reported questionnaires administered to 336 parents of patients with DMD (246) and BMD (90). Parents of patients with DMD reported higher burden than those of patients with BMD, especially concerning feeling of loss (84.3% DMD vs. 57.4% BMD), stigma (44.2% DMD vs. 5.5% BMD) and neglect of hobbies (69.0% DMD vs. 32.5% BMD). Despite the burden, 66% DMD and 62.4% BMD parents stated the caregiving experience had a positive impact on their lives. A minority of parents believed MD has a negative influence on the psychological well-being (31.0% DMD vs. 12.8% BMD), and social life of unaffected children (25.7% vs. 18.4%). In the DMD group, burden correlated with duration of illness and parent age, and burden was higher among parents with lower social contacts and support in emergencies. In DMD, difficulties among healthy children were reported as higher by parents who were older, had higher burden and lower social contacts. In both groups, burden increased in relation to patient disability. These findings underline that the psychological support to be provided to parents of patients with MD, should take into account clinical features of the disease.

  11. Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy.

    Science.gov (United States)

    Beekman, Chantal; Janson, Anneke A; Baghat, Aabed; van Deutekom, Judith C; Datson, Nicole A

    2018-01-01

    Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by progressive weakness of the skeletal and cardiac muscles. This X-linked disorder is caused by open reading frame disrupting mutations in the DMD gene, resulting in strong reduction or complete absence of dystrophin protein. In order to use dystrophin as a supportive or even surrogate biomarker in clinical studies on investigational drugs aiming at correcting the primary cause of the disease, the ability to reliably quantify dystrophin expression in muscle biopsies of DMD patients pre- and post-treatment is essential. Here we demonstrate the application of the ProteinSimple capillary immunoassay (Wes) method, a gel- and blot-free method requiring less sample, antibody and time to run than conventional Western blot assay. We optimized dystrophin quantification by Wes using 2 different antibodies and found it to be highly sensitive, reproducible and quantitative over a large dynamic range. Using a healthy control muscle sample as a reference and α-actinin as a protein loading/muscle content control, a panel of skeletal muscle samples consisting of 31 healthy controls, 25 Becker Muscle dystrophy (BMD) and 17 DMD samples was subjected to Wes analysis. In healthy controls dystrophin levels varied 3 to 5-fold between the highest and lowest muscle samples, with the reference sample representing the average of all 31 samples. In BMD muscle samples dystrophin levels ranged from 10% to 90%, with an average of 33% of the healthy muscle average, while for the DMD samples the average dystrophin level was 1.3%, ranging from 0.7% to 7% of the healthy muscle average. In conclusion, Wes is a suitable, efficient and reliable method for quantification of dystrophin expression as a biomarker in DMD clinical drug development.

  12. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy.

    Science.gov (United States)

    Zygmunt, Deborah A; Crowe, Kelly E; Flanigan, Kevin M; Martin, Paul T

    2017-09-01

    Recombinant adeno-associated virus (rAAV) is a commonly used gene therapy vector for the delivery of therapeutic transgenes in a variety of human diseases, but pre-existing serum antibodies to viral capsid proteins can greatly inhibit rAAV transduction of tissues. Serum was assayed from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), inclusion body myositis (IBM), and GNE myopathy (GNE). These were compared to serum from otherwise normal human subjects to determine the extent of pre-existing serum antibodies to rAAVrh74, rAAV1, rAAV2, rAAV6, rAAV8, and rAAV9. In almost all cases, patients with measurable titers to one rAAV serotype showed titers to all other serotypes tested, with average titers to rAAV2 being highest in all instances. Twenty-six percent of all young normal subjects (18 years old). Fifty percent of all IBM and GNE patients also had antibody titers to all rAAV serotypes, while only 18% of DMD and 0% of BMD patients did. In addition, serum-naïve macaques treated systemically with rAAVrh74 could develop cross-reactive antibodies to all other serotypes tested at 24 weeks post treatment. These data demonstrate that most DMD and BMD patients should be amenable to vascular rAAV-mediated treatment without the concern of treatment blockage by pre-existing serum rAAV antibodies, and that serum antibodies to rAAVrh74 are no more common than those for rAAV6, rAAV8, or rAAV9.

  13. A novel point mutation (G[sup [minus]1] to T) in a 5[prime] splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker Muscular Dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Hagiwara, Yoko; Nishio, Hisahide; Kitoh, Yoshihiko; Takeshima, Yasuhiro; Narita, Naoko; Wada, Hiroko; Yokoyama, Mitsuhiro; Nakamura, Hajime; Matsuo, Masafumi (Kobe Univ. School of Medicine (Japan))

    1994-01-01

    The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. The authors now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene in a patient with Becker muscular dystrophy. This defect results from a G-to-T transversion at the terminal nucleotide of exon 13, within the 5[prime] splice site of intron 13, and causes complete skipping of exon 13 during processing of dystrophin pre-mRNA. The predicted polypeptide encoded by the aberrant mRNA is a truncated dystrophin lacking 40 amino acids from the amino-proximal end of the rod domain. This is the first report of an intraexon point mutation that completely inactivates a 5[prime] splice donor site in dystrophin pre-mRNA. Analysis of the genomic context of the G[sup [minus]1]-to-T mutation at the 5[prime] splice site supports the exon-definition model of pre-mRNA splicing and contributes to the understanding of splice-site selection. 48 refs., 5 figs.

  14. Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study.

    Science.gov (United States)

    Florian, Anca; Rösch, Sabine; Bietenbeck, Michael; Engelen, Markus; Stypmann, Jörg; Waltenberger, Johannes; Sechtem, Udo; Yilmaz, Ali

    2016-03-01

    Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked recessive disorders associated with both skeletal myopathy and progressive cardiomyopathy in males. Female DMD/BMD carriers (DMDc/BMDc) are mostly free of skeletal muscle symptoms, but they are also prone to cardiomyopathy. The aim of the current study was to characterize the frequency, pattern, and extent of cardiomyopathy in female DMD/BMD carriers (DMDc/BMDc) in comparison to their first-degree male MD relatives. Thirty-six (age 44 ± 14 years) female MD carriers (20 DMDc and 16 BMDc) constituted the 'MD carrier group' and were prospectively enrolled. All MD carriers underwent a complete CMR study comprising cine- and late gadolinium enhancement (LGE) imaging. In 22 of these women ('female MD carrier comparison group', 7 DMD and 15 BMD), at least one first-degree male relative with a previously established diagnosis of MD underwent the same CMR protocol and was assigned to the 'male MD comparison group' (n = 24, 6 DMD and 18 BMD). In the total MD carrier group, 17 (47%) MD carriers had at least one pathological CMR finding [5 (14%) with a reduced left ventricular ejection fraction (LV-EF) and 16 (44%) with the presence of LGE]. All LGE-positive patients (n = 16) showed non-ischaemic LGE with subepicardial involvement of the LV lateral free wall being the most frequent pattern (13/16, 81%). Compared with BMDc, DMDc demonstrated more frequently a pathological CMR result (65 vs. 19%; P = 0.008)--in spite of being significantly younger (40 ± 11 vs. 50 ± 16 years, P = 0.038). In the male MD comparison group, the same LGE pattern as in female carriers was seen, but with a significantly higher prevalence of cardiac abnormalities compared with their female carrier relatives constituting the female MD comparison group (75 vs. 27%; P = 0.003). Cardiac involvement is a frequent finding in female carriers of DMD, but less frequently observed in carriers of BMD. Those DMDc and BMDc with cardiac involvement

  15. Duchenne and Becker Muscular Dystrophies

    Science.gov (United States)

    ... In another approach, MDA-supported researchers at a biotechnology company are testing PTC124, a drug that changes ... cally receives Quest, MDA’s award-win- ning quarterly magazine. Quest publishes detailed articles about research findings, medical ...

  16. Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55

    Directory of Open Access Journals (Sweden)

    Aoife Gowran

    2018-04-01

    Full Text Available Becker muscular dystrophy (BMD is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55.

  17. Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55).

    Science.gov (United States)

    Gowran, Aoife; Spaltro, Gabriella; Casalnuovo, Federica; Vigorelli, Vera; Spinelli, Pietro; Castiglioni, Elisa; Rovina, Davide; Paganini, Stefania; Di Segni, Marina; Gervasini, Cristina; Nigro, Patrizia; Pompilio, Giulio

    2018-04-01

    Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55). Copyright © 2018 The Author(s). Published by Elsevier B.V. All rights reserved.

  18. Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.

    Science.gov (United States)

    Matsuzaka, Yasunari; Kishi, Soichiro; Aoki, Yoshitsugu; Komaki, Hirofumi; Oya, Yasushi; Takeda, Shin-Ichi; Hashido, Kazuo

    2014-11-01

    Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker. However, because CK levels can be altered by various other factors, such as vigorous exercise, etc., false positive is observed. Therefore, three microRNAs (miRNAs), miR-1, miR-133a, and miR-206, were previously reported as alternative biomarkers for duchenne muscular dystrophy (DMD). However, no alternative biomarkers have been established for the other muscular dystrophies. We, therefore, evaluated whether these miR-1, miR-133a, and miR-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including DMD, myotonic dystrophy 1 (DM1), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), becker muscular dystrophy (BMD), and distal myopathy with rimmed vacuoles (DMRV) by qualitative polymerase chain reaction (PCR) amplification assay. Statistical analysis indicated that all these miRNA levels in serum represented no significant differences between all muscle disorders examined in this study and controls by Bonferroni correction. However, some of these indicated significant differences without correction for testing multiple diseases (P < 0.05). The median values of miR-1 levels in the serum of patients with LGMD, FSHD, and BMD were approximately 5.5, 3.3 and 1.7 compared to that in controls, 0.68, respectively. Similarly, those of miR-133a and miR-206 levels in the serum of BMD patients were about 2.5 and 2.1 compared to those in controls, 1.03 and 1.32, respectively. Taken together, our data demonstrate that levels of miR-1, miR-133a, and miR-206 in serum of BMD and miR-1 in sera of LGMD and FSHD patients showed no significant differences compared with those of controls by Bonferroni correction. However, the results might need increase in sample sizes to evaluate these three miRNAs as

  19. An unusual variant of Becker muscular dystrophy

    NARCIS (Netherlands)

    de Visser, M.; Bakker, E.; Defesche, J. C.; Bolhuis, P. A.; van Ommen, G. J.

    1990-01-01

    We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed

  20. Duchenne and Becker muscular dystrophy prevalence in South ...

    African Journals Online (AJOL)

    1993-07-28

    Jul 28, 1993 ... deletions in the dystrophin gene. Deletions were identified in 50% of Indian, white and mixed ancestry patients. In contrast, only 22% of blacks had identifiable deletions. DMD appears to be underrepresented in the black population; the low deletion frequency in this group suggests that unique mutations ...

  1. Duchenne and Becker muscular dystrophy prevalence in South ...

    African Journals Online (AJOL)

    DMD appears to be underrepresented in the black population; the low deletion frequency in this group suggests that unique mutations not detectable by methods used in this study may be more frequent in these patients than in the other populations. The increased DMD frequency in Indians corroborates findings reported ...

  2. Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Melinda F. Davis

    2011-05-01

    Full Text Available Reports an error in Davis et al. (2010.  The functional motor scale used in Davis et al. (2010 was the EK (Egen Klassifikation Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997.  Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness.  This error does not change the conclusions. DOI: 10.2458/azu_jmmss.v1i2.12366

  3. Genetic testing for Duchenne/Becker muscular dystrophy in ...

    African Journals Online (AJOL)

    BMD) mutations initially involved multiplex polymerase chain reaction (mPCR), which targeted two mutation hotspots in the gene and detected deletions in affected males. A newer technology, multiplex ligation-dependent probe amplification ...

  4. 77 FR 72387 - Jeffery J. Becker, D.D.S., and Jeffery J. Becker, D.D.S., Affordable Care Decision and Order

    Science.gov (United States)

    2012-12-05

    ... Third New International Dictionary 1802 (1993), or the ``main, prominent'' or ``leading,'' see Hertz Corp. v. Friend, 130 S.Ct. 1181, 1192 (2010) (quoting 12 Oxford English Dictionary 495 (2d ed. 1989...

  5. Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry

    Directory of Open Access Journals (Sweden)

    Acary S. Bulle Oliveira

    1992-12-01

    Full Text Available To ascertain whether dystrophin immunohistochemistry could improve DMD/ BMD carrier detection, we analyzed 14 muscle biopsies from 13 DMD and one BMD probable and possible carriers. All women were also evaluated using conventional methods, including genetic analysis, clinical and neurological evaluation, serum CK levels, KMG, and muscle biopsy. In 6 cases, there was a mosaic of dystrophin-positive and dystrophin-deficient fibers that allowed to make the diagnosis of a carrier state. Comparing dystrophin immunohistochemistry to the traditional methods, it was noted that this method is less sensitive than serum CK measuremens, but is more sensitive than EMG and muscle biopsy. The use of dystrophin immunohistochemistry in addition to CK, EMG and muscle biopsy improved the accuracy of carrier detection. This method is also helpful to distinguish manifesting DMD carriers from patients with other neuromuscular diseases like limb-girdle muscular dystrophy and spinal muscular atrophy.

  6. Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy—Implications for Therapies

    Directory of Open Access Journals (Sweden)

    Ahlke Heydemann

    2018-06-01

    Full Text Available The interactions between nutrition and metabolism and skeletal muscle have long been known. Muscle is the major metabolic organ—it consumes more calories than other organs—and therefore, there is a clear need to discuss these interactions and provide some direction for future research areas regarding muscle pathologies. In addition, new experiments and manuscripts continually reveal additional highly intricate, reciprocal interactions between metabolism and muscle. These reciprocal interactions include exercise, age, sex, diet, and pathologies including atrophy, hypoxia, obesity, diabetes, and muscle myopathies. Central to this review are the metabolic changes that occur in the skeletal muscle cells of muscular dystrophy patients and mouse models. Many of these metabolic changes are pathogenic (inappropriate body mass changes, mitochondrial dysfunction, reduced adenosine triphosphate (ATP levels, and increased Ca2+ and others are compensatory (increased phosphorylated AMP activated protein kinase (pAMPK, increased slow fiber numbers, and increased utrophin. Therefore, reversing or enhancing these changes with therapies will aid the patients. The multiple therapeutic targets to reverse or enhance the metabolic pathways will be discussed. Among the therapeutic targets are increasing pAMPK, utrophin, mitochondrial number and slow fiber characteristics, and inhibiting reactive oxygen species. Because new data reveals many additional intricate levels of interactions, new questions are rapidly arising. How does muscular dystrophy alter metabolism, and are the changes compensatory or pathogenic? How does metabolism affect muscular dystrophy? Of course, the most profound question is whether clinicians can therapeutically target nutrition and metabolism for muscular dystrophy patient benefit? Obtaining the answers to these questions will greatly aid patients with muscular dystrophy.

  7. Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies.

    Science.gov (United States)

    Heydemann, Ahlke

    2018-06-20

    The interactions between nutrition and metabolism and skeletal muscle have long been known. Muscle is the major metabolic organ—it consumes more calories than other organs—and therefore, there is a clear need to discuss these interactions and provide some direction for future research areas regarding muscle pathologies. In addition, new experiments and manuscripts continually reveal additional highly intricate, reciprocal interactions between metabolism and muscle. These reciprocal interactions include exercise, age, sex, diet, and pathologies including atrophy, hypoxia, obesity, diabetes, and muscle myopathies. Central to this review are the metabolic changes that occur in the skeletal muscle cells of muscular dystrophy patients and mouse models. Many of these metabolic changes are pathogenic (inappropriate body mass changes, mitochondrial dysfunction, reduced adenosine triphosphate (ATP) levels, and increased Ca 2+ ) and others are compensatory (increased phosphorylated AMP activated protein kinase (pAMPK), increased slow fiber numbers, and increased utrophin). Therefore, reversing or enhancing these changes with therapies will aid the patients. The multiple therapeutic targets to reverse or enhance the metabolic pathways will be discussed. Among the therapeutic targets are increasing pAMPK, utrophin, mitochondrial number and slow fiber characteristics, and inhibiting reactive oxygen species. Because new data reveals many additional intricate levels of interactions, new questions are rapidly arising. How does muscular dystrophy alter metabolism, and are the changes compensatory or pathogenic? How does metabolism affect muscular dystrophy? Of course, the most profound question is whether clinicians can therapeutically target nutrition and metabolism for muscular dystrophy patient benefit? Obtaining the answers to these questions will greatly aid patients with muscular dystrophy.

  8. Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

    Science.gov (United States)

    Papa, Riccardo; Madia, Francesca; Bartolomeo, Domenico; Trucco, Federica; Pedemonte, Marina; Traverso, Monica; Broda, Paolo; Bruno, Claudio; Zara, Federico; Minetti, Carlo; Fiorillo, Chiara

    2016-02-01

    Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during childhood are poorly known. We describe a cohort of pediatric DMD carriers, providing clinical, genetic, and histopathologic features, with a mean follow-up of 7 years. Fifteen females with a DMD mutation (age range 5 to 18 years) were included. Seven patients (46%) presented with clinically evident symptoms and signs such as limb girdle weakness, abnormal gait, and exercise intolerance. The other eight patients (53%) were evaluated because of an incidental finding of elevated level of creatine kinase. Creatine kinase level was elevated in all, ranging from 392 to 13,000 U/L. Calf hypertrophy was observed in eight patients (53%). No patient developed respiratory or cardiac involvement. The most frequent complication was scoliosis (46%). Four patients (29%) also presented minor learning disabilities or behavioral problems. We performed electromyography in half of patients, showing myopathic pattern in four (53%). Muscle biopsy revealed a mosaic reduction of dystrophin in nine available cases. DMD gene mutations were mostly deletions (71%), resulting in loss of reading frame in five patients (36%). The three patients who experienced the most severe disease course were affected either by a nonsense or frameshift mutation. Our analysis suggests that DMD gene mutations may be suspected in a female child with persistently elevated levels of creatine kinase. Evidence of scoliosis, calf hypertrophy, or myopathic pattern at electromyography may also be helpful, and muscle biopsy is always indicative. DMD carriers should be followed for subtle orthopedic and psychiatric complications during childhood. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Das Lübecker Repetitorium "Innere Kompakt" [The Luebeck compact revision course in Internal Medicine

    Directory of Open Access Journals (Sweden)

    Kühn, Johanna

    2007-08-01

    Full Text Available [english] Introduction: The initiation of the amended second state examination in human medicine in autumn 2006 made many students feel insecure. Aim of the Luebeck compact revision course in Internal Medicine was to reassure the students by optimal preparation. Project description: In September 2006, for the first time, 75 students in their final practical year of study participated in the revision course. During eight days, the relevant topics for the second state examination in Internal Medicine were discussed – as lectures in the morning and in small working groups with case presentations in the afternoon. Results: Daily evaluation as well as a detailed evaluation at the end of the course point out the positive and negative aspects of the project. A final grade of 1.92 and a level of recommendation of 100% reflect a very positive feedback. Discussion and conclusion: To ensure a successful realisation of such a course, time and effort may not be underrated: it takes i.e. a structured time-table and motivated tutors as well as a detailed planning and administrative tasks to realise such a project. However, the students´ better preparation for their examinations and jobs compensate the additional time and effort. Therefore, we decided to establish comparable revision courses in Internal Medicine annually, and other clinical areas like Surgery will follow. [german] Einleitung: Die Einführung des neuen zweiten Staatsexamens im Herbst letzten Jahres führte bei vielen Medizinstudenten zu Verunsicherung. Diesem so genannten „Hammerexamen“ durch optimale Vorbereitung seinen Schrecken zu nehmen, war Ziel des neu eingeführten Repetitoriums der Inneren Medizin in Lübeck. Projektbeschreibung: Erstmals im September letzten Jahres nahmen 75 Studierende im Praktischen Jahr am Repetitorium „Innere kompakt“ teil. Innerhalb von acht Tagen wurden die wesentlichen prüfungsrelevanten Inhalte der Inneren Medizin behandelt – vormittags als Vorlesung, nachmittags als interaktiver Kleingruppenunterricht. Ergebnisse: Durch tägliche Evaluierung und eine ausführliche Abschlussevaluation konnten positive Ansätze ebenso wie Schwachstellen ermittelt werden. Bei einer durchschnittlichen Gesamtnote von 1,92 und einer Weiterempfehlungsrate von 100% fiel die Rückmeldung sehr positiv aus. Diskussion und Schlussfolgerung: Um ein gutes Gelingen zu gewährleisten, sollte man den Aufwand eines Repetitoriums nicht unterschätzen: ein strukturierter Stundenplan und engagierte Dozenten gehören ebenso dazu wie sorgfältige Planung und Verwaltungsaufgaben. Die mögliche Mehrbelastung wird jedoch durch gute Prüfungs- und Berufsvorbereitung der Studenten wieder aufgewogen. Dies hat uns in Lübeck dazu bewogen, das Repetitorium in der Inneren Medizin nun jährlich anzubieten und weitere Repetitorien in klinischen Fächern wie der Chirurgie folgen zu lassen.

  10. Continuum model of the two-component Becker-Döring equations

    OpenAIRE

    Soheili, Ali Reza

    2004-01-01

    The process of collision between particles is a subject of interest in many fields of physics, astronomy, polymer physics, atmospheric physics, and colloid chemistry. If two types of particles are allowed to participate in the cluster coalescence, then the time evolution of the cluster distribution has been described by an infinite system of ordinary differential equations. In this paper, we describe the model with a second-order two-dimensional partial differential equation, as a continuum m...

  11. Continuum model of the two-component Becker-Döring equations

    Directory of Open Access Journals (Sweden)

    Ali Reza Soheili

    2004-01-01

    Full Text Available The process of collision between particles is a subject of interest in many fields of physics, astronomy, polymer physics, atmospheric physics, and colloid chemistry. If two types of particles are allowed to participate in the cluster coalescence, then the time evolution of the cluster distribution has been described by an infinite system of ordinary differential equations. In this paper, we describe the model with a second-order two-dimensional partial differential equation, as a continuum model.

  12. The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression.

    Science.gov (United States)

    Kinnett, Kathi; Noritz, Garey

    2017-06-27

    Duchenne muscular dystrophy (DMD or Duchenne) is a progressive, life-limiting muscle-wasting disease that requires comprehensive, multidisciplinary care. This care, at minimum, should include neuromuscular, respiratory, cardiac, orthopedic, endocrine and rehabilitative interventions that address both the primary and secondary manifestations of the disease. The care needs of patients evolve over the cdourse of the disease and as they transition from childhood into young adulthood. In the past two decades, life expectancy has increased significantly by the use of corticosteroids and enhanced clinical management. Nevertheless, each year, patients with Duchenne muscular dystrophy are admitted to emergency departments and intensive care units where medical expertise thrives, but where expertise in rare diseases, such as Duchenne, may not. Emergency care for patients with Duchenne can be as complex as the disease process itself. While any illness or injury may occur in a person with Duchenne, some acute scenarios are much more common in the context of the disease. Making decisions about the clinical care of a person with Duchenne who presents with an acute illness can be quite difficult - in part, because of the extensive use of corticosteroids, which can lead to adrenal suppression. The life of a person with Duchenne needing emergency care may therefore depend upon the ability of the clinician on duty in the emergency department to recognize and mitigate adrenal suppression resulting from corticosteroid dependence. With this in mind, and drawing from expertise and experience with other steroid-dependent diseases, the 'PJ Nicholoff Steroid Protocol' was developed. The purpose of this protocol is to provide clinicians information regarding the safe management of corticosteroid during emergency situations in patients who may have accompanying adrenal suppression. The protocol explains how to recognize the signs and symptoms of acute adrenal crisis, how to prevent it with supplemental stress doses of corticosteroids, and how to taper doses after emergency care in order to prevent corticosteroid withdrawal.

  13. 77 FR 52346 - Hamden Slough National Wildlife Refuge, Becker County, MN

    Science.gov (United States)

    2012-08-29

    ... hold open house-style meetings during the comment period to receive comments and provide information on... regime would better emulate natural seasonal and long-term variability. More diverse, sustainable.... More diverse, sustainable vegetation patterns would be restored on Refuge wetlands and prairies. A...

  14. Implementation of new core cooling monitoring system for light water reactors - BCCM (Becker Core Cooling Monitor)

    International Nuclear Information System (INIS)

    Coville, Patrick; Eliasson, Bengt; Stromqvist, Erik; Ward, Olav; Fox, Georges; Ashjian, D. T.

    1998-01-01

    Core cooling monitors are key instruments to protect reactors from large accidents due to loss of coolant. Sensors presented here are based on resistance thermometry. Temperature dependent resistance is powered by relatively high and constant current. Value of this resistance depends on thermal exchange with coolant and when water is no more surrounding the sensors a large increase of temperature is immediately generated. The same instrument can be operated with low current and will measure the local temperature up to 1260 o C in case of loss of coolant accident. Sensors are manufactured with very few components and materials already qualified for long term exposure to boiling or pressurized water reactors environment. Prototypes have been evaluated in a test loop up to 160 bars and in the Barsebaeck-1 reactor. Industrial sensors are now in operation in reactor Oskarshamn 2. (author)

  15. On potential enemies and potential targets / Egdunas Racius ; interv. Sven Becker

    Index Scriptorium Estoniae

    Racius, Egdunas

    2006-01-01

    Araabia regiooni tundev spetsialist annab intervjuus ülevaate olukorrast Iraagis, vastates küsimustele, mis puudutavad riigis demokraatia üles ehitamist, terrorismiga toimetulemist ning Leedu sõjaväelaste viibimist Iraagis. Lisa: Egdunas Racius

  16. Russia puts Europe to a test of morality / Vytautas Landsbergis ; interv. Sven Becker

    Index Scriptorium Estoniae

    Landsbergis, Vytautas

    2006-01-01

    Euroopa Parlamendi liige vastab küsimustele, mis puudutavad Leedut Euroopa Liidu liikmesriigina, Euroopa Liidu ja Venemaa suhteid, Vene-Saksa gaasitoru ja Leedu sisepoliitikat. Lisa: Vytautas Landsbergise CV

  17. Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype

    DEFF Research Database (Denmark)

    Witting, Nanna; Duno, Morten; Vissing, John

    2011-01-01

    With the possible introduction of exon skipping therapy in Duchenne muscular dystrophy, it has become increasingly important to know the role of each exon of the dystrophin gene to protein expression, and thus the phenotype. In this report, we present two related men with an unusually mild BMD...... calf hypertrophy was noted. Creatine kinase was normal or raised maximally to 500 U/l. The muscle biopsy was myopathic with increased fiber size variation and many internal nuclei, but no dystrophy. No comorbidity was found. In both cases, western blot showed a reduced dystrophin band. Genetic...... skipping therapy for Duchenne muscular dystrophy. This report also shows that BMD may present with a normal CK....

  18. Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China

    Directory of Open Access Journals (Sweden)

    Hui-Hui Zhao

    2018-01-01

    Conclusions: MLPA has better productivity and sensitivity than multiplex PCR. Prenatal diagnosis should be applied in DMD high-risk fetuses to reduce the disease incidence. Furthermore, it is the responsibility of physicians to inform female carriers the importance of prenatal diagnosis.

  19. Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis

    Directory of Open Access Journals (Sweden)

    Fardeen Ali Malayeri

    2011-03-01

    Full Text Available This study determines the value of linkage analysis using six RFLP markers for carrier detection and prenatal diagnosis in familial DMD/BMD cases and their family members for the first time in the Iranian population. We studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of DMD or BMD. Subsequently, we determined the rate of heterozygosity for six intragenic RFLP markers in the mothers of patients with dystrophin gene deletions. Finally, we studied the efficiency of linkage analysis by using RFLP markers for carrier status detection of DMD/BMD. In 63.6% of the patients we found one or more deletions. The most common heterozygous RFLP marker with 57.1% heterozygosity was pERT87.15Taq1. More than 80% of mothers in two groups of familial or non-familial cases had at least two heterozygous markers. Family linkage analysis was informative in more than 80% of the cases, allowing for accurate carrier detection. We found that linkage analysis using these six RFLP markers for carrier detection and prenatal diagnosis is a rapid, easy, reliable, and inexpensive method, suitable for most routine diagnostic services. The heterozygosity frequency of these markers is high enough in the Iranian population to allow carrier detection and prenatal diagnosis of DMD/BMD in more than 80% of familial cases in Iran.

  20. Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype

    DEFF Research Database (Denmark)

    Witting, Nanna; Duno, Morten; Vissing, John

    2011-01-01

    With the possible introduction of exon skipping therapy in Duchenne muscular dystrophy, it has become increasingly important to know the role of each exon of the dystrophin gene to protein expression, and thus the phenotype. In this report, we present two related men with an unusually mild BMD...... skipping therapy for Duchenne muscular dystrophy. This report also shows that BMD may present with a normal CK....... associated with an exon 26 deletion. The proband, a 23-year-old man, had slightly delayed motor milestones, walking 1 1/2 years old. He had no complaints of muscle weakness, but had muscle pain. Clinical examination revealed no muscle wasting or loss of power, but his CK was 1500-7000 U/l. Muscle biopsy...

  1. Results of the radiological survey at State Route 17 ampersand Becker Avenue, Maywood, New Jersey (MJ033)

    International Nuclear Information System (INIS)

    Foley, R.D.; Carrier, R.F.

    1990-03-01

    Maywood Chemical Works (MCW) of Maywood, New Jersey, generated process wastes and residues associated with the production and refining of thorium and thorium compounds from monazite ores from 1916 to 1956. At the request of the US Department of Energy (DOE), a group from Oak Ridge National Laboratory conducts investigative radiological surveys of properties in the vicinity of MCW to determine whether a property is contaminated with radioactive residues, principally 232 Th, derived from the MCW site. The survey typically includes direct measurement of gamma radiation levels and soil sampling for radionuclide analyses. 5 refs., 2 figs., 3 tabs

  2. 77 FR 33235 - Notice of Realty Action: Modified Competitive Sale of Public Lands in Becker County, MN

    Science.gov (United States)

    2012-06-05

    ... bid is received or the sale is cancelled. Sealed bid envelopes must be clearly marked on the front lower left-hand corner with ``SEALED BID BLM LAND SALE, MNES-056512''. The bid envelope must contain a... of Land Management. Personal checks will not be accepted. Failure to submit the remainder of the full...

  3. Solid State Quantum Computer in Silicon

    Science.gov (United States)

    2008-09-30

    Zac Evans Martin Fuechsle Virginia Gill Toby Hopf Lenneke Jong Gajendran Kandasamy Wee Han Lim Graeme Lowe Melissa Makin Mladen Mitic Dane McCamey...Hudson 0.50 Linda Macks 0.50 Andrea Morello 1.00 Thilo Reusch 1.00 Frank Ruess 0.00 Giordano Scappucci 0.00 Laurens Willems van Beveren 0.60

  4. Juhtimine ja juhtiv kultuur / Jürgen Habermas

    Index Scriptorium Estoniae

    Habermas, Jürgen, 1929-

    2010-01-01

    Autor kirjutab Saksamaa ühiskondlikest ja poliitilistest suundumustest. Probleemidest sisserännanutega, üha suurenevast toetusest mittepoliitilistele tegelastele poliitikasfääris ja vastuseisust parteide poliitikale, kodanikualagatuslikust vastuhakust. Thilo Sarrazini raamatust "Saksamaa kaotab end ära"

  5. Populism või normaliseerumine? / Jeroen Bult

    Index Scriptorium Estoniae

    Bult, Jeroen

    2010-01-01

    Autor leiab, et Saksamaa kõrge riigiametniku Thilo Sarrazini raamat "Deutschland schafft sich ab. Wie wir unser Land aufs Spiel setzen", milles ta kritiseerib islamiusulisi sisserändajaid, võiks algatada rahvusliku debati: millist laadi immigrante on vananeva elanikkonnaga Saksamaale vaja

  6. Barbara Becker-Cantarino: Genderforschung und Germanistik. Perspektiven von der Frühen Neuzeit bis zur Moderne. Berlin: Weidler Buchverlag 2010.

    Directory of Open Access Journals (Sweden)

    Sahra Dornick

    2011-07-01

    Full Text Available Die Grundlage der literaturhistorischen Untersuchung bilden literarische und religiöse Texte von der Frühen Neuzeit bis zur Moderne – Romane, Dramen und Briefe sowie Ego-Dokumente, philosophische Schriften und bildliche Darstellungen. Die Autorin konzentriert sich auf die Rekonstruktion der in den Primärtexten auffindbaren Geschlechterverhältnisse und -rollen und auf die kritische Beleuchtung ihrer Produktions- und Rezeptionsbedingungen in einem grundlegend patriarchalisch strukturierten literarischen Feld. Damit gelingt es ihr, einerseits anschaulich vorzuführen, inwiefern Geschlecht als strukturierende Struktur in literarische und religiöse Texte eingeschrieben ist, und andererseits zu zeigen, welche Lücke aufgrund der Demarkierung weiblicher Autorschaft und weiblichen Schreibens bis heute in der literaturhistorischen Forschung klafft.Literary and religious texts from the Early Modern era to Modernity – novels, plays, and letters as well as ego documents, philosophical writings, and visual material are the basis for this literary-historical analysis. The author focuses on the reconstruction of the gender relations and roles that can be found in the primary texts as well as on a critical analysis of the conditions for production and reception in a literary field that was fundamentally patriarchally structured. In doing so, she succeeds both in clearly illustrating to what extent gender is encoded as a structuring pattern in literary and religious texts and in showing the gap, which, due to the demarcation of female authorship and female writing, is still gaping in literary-historical research until today.

  7. The regulation of market communication and market behaviour: corporate social responsibility and the directives on unfair commercial practices and unfair contract terms / Anna Beckers

    Index Scriptorium Estoniae

    Beckers, Anna

    2017-01-01

    Ettevõtete sotsiaalse vastutuse poliitika õiguslikust määratlemisest ELi õiguses tarbijakaitse direktiivide 2005/29/EÜ (ebaausad kaubandustavad ettevõtjate ja tarbijate vahel) ja 1993/13/EMÜ (ebaõiglased tingimused tarbijalepingutes) taustal

  8. IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES

    Directory of Open Access Journals (Sweden)

    Patricia Hernández Rodríguez

    2002-06-01

    Full Text Available Se diseñó un ensayo de PCR múltiplex (6-plex que amplifica simultáneamente 6 exones del gen de la distrofina, estos exones son los que presentan mayor frecuencia de mutación. La proporción de deleciones observada en este estudio mediante el sistema 6-plex correspondió al31,25%, además el60% del total de las deleciones involucró los exones 44 al 52. Con el fin de identificar mujeres portadoras de DMD y DMB se utilizó el cálculo de dosis génica, a través de esta metodología fueron identificadas 7 mujeres como portadoras y 15 como no portadoras de deleción para los exones analizados, en este estudio no se encontró ninguna mujer como portadora de duplicación. Con la utilización de polimorfismos dinucleotídicos (CAn localizados en el interior del gen fue posible establecer inforrnación sobre el cromosoma X que posiblemente está afectado en el 63% de las mujeresanalizadas.

  9. Identificación de mutaciones y diagnóstico molecular de portadoras en familias mexicanas con distrofia muscular Duchenne/Becker

    Directory of Open Access Journals (Sweden)

    S. Canizales

    2008-01-01

    Discusión o Conclusión: El porcentaje de eliminaciones genéticas en los pacientes estudiados fue menor al reportado en otras poblaciones. Un estudio con un mayor número de individuos permitirá saber sí esta baja frecuencia es característica de nuestra población. El uso de estudios de ligamiento genético y de RT-PCR aumenta la posibilidad de definir el estado portador en mujeres pertenecientes a familias con DMD/BMD y así poder ofrecerles un adecuado consejo genético. Este es el primer trabajo realizado en México, donde se usó el RT-PCR como herramienta diagnóstica en esta distrofia, se identificó por primera vez, a nivel molecular, un paciente con Síndrome de genes continuos y se demostró un empalme alternativo en un paciente con esta miopatía para explicar su fenotipo.

  10. Merkel kaitses tuliselt sõnavabadust / Inga Höglund

    Index Scriptorium Estoniae

    Höglund, Inga

    2010-01-01

    Saksamaal otsustati tunnustada taani karikaturisti Kurt Westergaardi 5 aastat tagasi joonistatud Muhamedi karikatuuri eest. Kurt Westergaardi ja ajakirjandusvabaduse tunnustamiseks lavale astunud Saksamaa kansleri Angela Merkeli kõnest. Angela Merkel leidis, et endise keskpanga nõukogu juhtkonda kuulunud Thilo Sarrazini islamivaenulikke sõnavõtte ei saa karikatuuriga võrrelda, kuna kõrgel riigiametnikul ei ole sobiv esineda taoliste sõnavõttudega

  11. Genetics Home Reference: X-linked dilated cardiomyopathy

    Science.gov (United States)

    ... The other conditions in the spectrum, Duchenne and Becker muscular dystrophy , are characterized by progressive weakness and wasting of ... linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy. Related Information What does it mean if a ...

  12. Learning about Duchenne Muscular Dystrophy

    Science.gov (United States)

    ... protein. Often these boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) ... National Library of Medicine Web site Duchenne and Becker muscular dystrophy [ghr.nlm.nih.gov] From Genetics Home Reference ...

  13. Catalog of Completed Studies, US Army Health Care Studies and Clinical Investigation Activity.

    Science.gov (United States)

    1984-12-10

    Arch. Dermatol, 1980, 116:559-561. 16 Becker, L. E. Charles, C. R., Babcock, W. S., Electrol microscopic diagnosis of lymphogranuloma venereum , J. Assn...852. 3 Becker, L. E., Skipworth, G. B., Ginkgo-tree dermatitis, stomatitis, and proctitis. JAMA, 1975, 231:1162-1163. 4 Becker, L. E., Lymphogranuloma ... venereum . Intl. J. Dermatol, 1976, 15:26-33 5 Jessen, R. T., Straight, M., Becker, L. E., Lichen myxedematosus. Treatment with cyclophosphamide. Int

  14. CINRG: Systems Biology of Glucocoricoids in Muscle Disease

    Science.gov (United States)

    2014-12-01

    amyotrophic lateral sclerosis; BMD, Becker muscular dystrophy ; COX, cytochrome c oxidase; DMD, Duchenne mus- cular dystrophy ; FSH...to a lesser extent, in Becker muscular dystrophy (BMD; dystrophin mutation), LGMD2A (limb girdle muscular dystrophy type 2A; CALP3 [calpain 3...muscular dystrophy (FSH), normal human skeletal muscle (NHM), amyotrophic lateral sclerosis (ALS), acute quadriplegic myopathy (AQM), Becker muscular

  15. Nuevos casos de coccidiosis bovina en León. Denuncia de Eimeria bovis (Züblin,1908) Fiebiger, 1912, E. auburnensis Christensen y Porter, 1939 y E. ellipsoidalis Becker y Frye, 1929

    OpenAIRE

    Cordero del Campillo, Miguel

    1981-01-01

    P. 61-72 Se estudian nuevos focos de coccidiosis bovina en la provincia de León. En la zona montañosa del NE, se identifica, nuevamente Eimeria zürni más Eimeria auburnensis. En las cercanías de la ciudad de León se comprobó la existencia de Eimeria bovis, Eimeria auburnensis y Eimeria ellipsoidalis. La máxima frecuencia corre a cargo de Eimeria zürni y Eimeria bovis, dotadas también de mayor poder patógeno. Los datos morfológicos de Eimeria zürni concuerdan con los estudiados por el autor...

  16. Disastrous Dialogue

    DEFF Research Database (Denmark)

    Just, Sine Nørholm; Berg, Kristine Marie

    2016-01-01

    In 2010 the Danish artist Søren Thilo Funder was in Cairo to produce the art film Disastrous Dialogue. As Funder set to work he had a foreboding about how politically charged the piece might be. When he cut the film, however, events had exceeded his most fateful premonitions, reshaping the interp...... through the lens of the concept of plasticity. This leads us to propose a plastic understanding of agency as both formed by and formative of meaningful relationships—and able to creatively destruct and, thereby, transform configurations of meaning....

  17. CINRG: Infrastructure for Clinical Trials in Duchenne Dystrophy

    Science.gov (United States)

    2013-09-01

    monitoring visit to monitor this study, the PITT0908 clinical trial, a study on facioscapulohumeral muscular dystrophy (FSHD), and PITT0112 Becker natural...height findings manuscript are currently in working stage and circulating among co-authors for editing. 2.3.6 Becker Muscular Dystrophy – A Natural...participants with Becker muscular dystrophy . The study period is 36 months per patient. This project is primarily funded by the National Institutes of

  18. Genetics Home Reference: myotonia congenita

    Science.gov (United States)

    ... Manual Consumer Version: Congenital Myopathies Orphanet: Thomsen and Becker disease Patient Support and Advocacy Resources (3 links) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource ...

  19. Weakness

    Science.gov (United States)

    ... by a slipped disk in the spine) Stroke MUSCLE DISEASES Becker muscular dystrophy Dermatomyositis Muscular dystrophy (Duchenne) Myotonic dystrophy POISONING Botulism Poisoning ( insecticides , nerve gas) ...

  20. Cosmetic Surgery

    Science.gov (United States)

    ... the Eating Disorders Clinical and Research Program, Massachusetts General Hospital Kendra Becker, M.S., Clinical Fellow in Psychology, Department of Psychiatry, Massachusetts General Hospital Michael Kozak, ...

  1. Good Mental Health

    Science.gov (United States)

    ... the Eating Disorders Clinical and Research Program, Massachusetts General Hospital Kendra Becker, M.S., Clinical Fellow in Psychology, Department of Psychiatry, Massachusetts General Hospital Michael Kozak, ...

  2. Recreation and Natural Area Needs Assessment (GREAT III)

    Science.gov (United States)

    1982-01-01

    1970 The Pennsylvania State University: Research and Computer Technician for Dr. E. L. Bergman, Department of Horticulture . Education B.S. The...Publication 1974 Becker, R. H. and R. 0. Ray. "Accessibility: An Application of the New Technology." Therapeutic Recreation Journal, Vol. 8, No. 4. 1976 Becker

  3. Definitions and Omissions of Heroism

    Science.gov (United States)

    Martens, Jeffrey W.

    2005-01-01

    This article presents comments on "The Heroism of Women and Men" by Selwyn W. Becker and Alice H. Eagly. Their article specifically addressed the "cultural association of heroism with men and masculinity . . . in natural settings." Becker and Eagly evidenced roughly equivalent rates of heroism by women and men in a variety of settings. However,…

  4. A Survey of Principles Instructors: Why Lecture Prevails

    Science.gov (United States)

    Goffe, William L.; Kauper, David

    2014-01-01

    For many years, surveys have shown that lecture is the dominant method for teaching principles of economics (Watts and Schaur 2011; Watts and Becker 2008; Becker and Watts 1996, 2001a, b). The authors confirm this and augment it by asking why principles instructors teach the way they do. The respondents, 340 principles instructors at the 2012…

  5. Travel to Learn: How, When, and Why to Apply for Overseas Professional Development

    Science.gov (United States)

    Cook, Erika; Becker, Aaron

    2013-01-01

    In this article, Erika Cook and Aaron Becker suggest teachers travel to "unfamiliar" lands to not only breathe life into global lessons but also to gain new perspectives and experiences as educators. For teachers who dread teaching about an unfamiliar place or culture, Cook and Becker recommend considering the very real opportunities to…

  6. Sequential causal learning in humans and rats

    NARCIS (Netherlands)

    Lu, H.; Rojas, R.R.; Beckers, T.; Yuille, A.; Love, B.C.; McRae, K.; Sloutsky, V.M.

    2008-01-01

    Recent experiments (Beckers, De Houwer, Pineño, & Miller, 2005;Beckers, Miller, De Houwer, & Urushihara, 2006) have shown that pretraining with unrelated cues can dramatically influence the performance of humans in a causal learning paradigm and rats in a standard Pavlovian conditioning paradigm.

  7. Important Evidence Highlights the Meaning of Teacher-Child Relationships for Child Development. Commentary on: "Formations of Attachment Relationships towards Teachers Lead to Conclusions for Public Child Care"

    Science.gov (United States)

    Sagi-Schwartz, Abraham

    2016-01-01

    In this commentary, Sagi-Schwartz evaluates the article by Beckh and Becker-Stoll (2016) on attachment relationships with non-parental caregivers and how it may contribute to public child care. Beckh and Becker-Stoll first describe important background about research on early parent-child relationships, and how their nature and quality might…

  8. Whose Side Are We on and for Whom Do We Write? Notes on Issues and Challenges Facing Those Researching and Evaluating Public Policy

    Science.gov (United States)

    Warren, Jon; Garthwaite, Kayleigh

    2015-01-01

    Becker (1967) poses the question "Whose side are we on?," a question which has become an enduring part of discussions within social scientific methodology. This paper explores the key issues in Becker's argument and considers its relevance to researchers today, locating this within a consideration of evaluation-based research and policy.…

  9. Structure May Be Key to Incorporating Library School Interns in Academic Library Environments. A Review of: Sargent, A. R., Becker, B. W., & Klingberg, S. (2011. Incorporating library school interns on academic library subject teams. The Journal of Academic Librarianship, 37(1, 28-33. doi: 10.1016/j.acalib.2010.10.004

    Directory of Open Access Journals (Sweden)

    Heather R. Williams

    2011-09-01

    Full Text Available Objective – To evaluate the effectiveness of the San Jose State University Library internship program.Design – Focus group; single point in time; qualitative design.Setting – Large academic library in the United States of America.Subjects – Nine former interns of the San Jose State University (SJSU Library.Methods - Nine former interns of the SJSU Library internship program participated in a single 90-minute session. No inducements for participation were offered. A moderator asked a series of 10 questions designed to gather feedback in three areas: 1 “the internship as part of the Masters program,” 2 “the internship’s role in the realization of personal objectives and professional development,” and 3 “the experience of working in team based activities.” A digital voice recorder captured the participants’ responses, allowing for detailed analysis of the responses after the session.Main Results – The interns deemed their overall experience successful, as all indicated they achieved their professional development objectives for the internship. However, the interns also indicated their experience could have been improved by the appointment of a single dedicated coordinator for recruitment and oversight, as well as more feedback on the quality of their work, especially for course-related instruction.Conclusion – The SJSU Library determined that the internship program was advantageous to both the Library and the interns. All of the interns who participated in the focus group achieved their profession development objectives for the internship. Additionally, the Library received valuable feedback for improving the program. Suggestions included appointing a dedicated internship coordinator, allowing interns more of an opportunity to choose their projects, and ensuring that interns are offered frequent feedback about the quality of their work.

  10. Claves para reconocer, pensar y repensar aspectos centrales y problemáticos del proceso de investigación social : Howard S. Becker, Trucos del oficio: cómo conducir su investigación en Ciencias Sociales, Buenos Aires, Siglo Veintiuno, 2009

    OpenAIRE

    Santos, Javier Alberto

    2011-01-01

    Trucos del Oficio es la edición en español de la obra Tricks of the trade, editada originalmente en 1998 por la Universidad de Chicago. Se trata de un trabajo vigente que invita a profundizar sobre los aspectos metodológicos de las ciencias sociales, sobre todo para aquellos que poseen conocimientos y experiencia en investigación social empírica con abordaje cualitativo. Se trata de una suerte de manual heterodoxo (y no canónico) de herramientas conceptuales y operativas escrito con un estilo...

  11. Learn About Neuromuscular Disease

    Science.gov (United States)

    ... cause weakness and degeneration of the skeletal muscles. Becker muscular dystrophy (BMD) Congenital muscular dystrophies (CMD) Bethlem CMD Fukuyama ... Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Myotonia ... muscular dystrophy Vocal cord and pharyngeal distal myopathy Welander distal ...

  12. Evaluation of Limb-Girdle Muscular Dystrophy

    Science.gov (United States)

    2014-03-06

    Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency); Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency); Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

  13. Saksa kunstiklassika Worpswede külakesest / Mai Levin

    Index Scriptorium Estoniae

    Levin, Mai, 1942-

    2000-01-01

    Tallinna Kunstihoone galeriis saksa maalikunsti näitus "Paula Modersohn-Becker ja teised Worpswede kunstnikud 1895-1906". Pikemalt modernistliku primitivismi esindaja Paula Modersohn-Beckeri loomingust

  14. Cannabis careers revisited

    DEFF Research Database (Denmark)

    Järvinen, Margaretha; Ravn, Signe

    2014-01-01

    A considerable part of today's sociological research on recreational drug use is (explicitly or implicitly) inspired by Howard Becker's classical model of deviant careers. The aim of the present paper is to directly apply Becker's theory to empirical data on present-day cannabis use and to suggest...... in treatment for cannabis problems in Copenhagen, Denmark. We suggest a revision of Becker's career model in relation to four aspects: initiation of cannabis use, differentiation between socially integrated and individualised, disintegrated use, social control from non-users, and the users' moral stance...... on cannabis. A central point of the paper is that social interaction may both motivate cannabis use, as Becker proposed, and serve as a protective factor against extensive, problematic use....

  15. Evaluation of point mutations in dystrophin gene in Iranian ...

    Indian Academy of Sciences (India)

    5Department of Biology, Science and Research Branch, Islamic Azad ... Dystrophin protein is found ... Duchenne and Becker muscular dystrophy; neuromuscular disorder; point mutation. ..... modern diagnostic techniques to a large cohort.

  16. 2097-IJBCS-Article-Jean Pierre Mingoas K

    African Journals Online (AJOL)

    hp

    circumference and reproductive hormones rate .... t-test was used to compare means. RESULTS ..... Meeting between organizations involved in the integrated trypanosomosis control,. Bordeaux ... Faye D, Sulon J, Kane Y, Beckers JF, Leak S,.

  17. 78 FR 29760 - Final Flood Hazard Determinations

    Science.gov (United States)

    2013-05-21

    ... above. FOR FURTHER INFORMATION CONTACT: Luis Rodriguez, Chief, Engineering Management Branch, Federal... Municipal Offices, 8801 Paul Becker Road, Marcy, NY 13403. Town of Marshall Marshall Town Hall, 2651 State...

  18. The American dream

    OpenAIRE

    Camanho, Gilberto Luis

    2015-01-01

    The American dream : literar. Spiegelungen. - In: Weltmacht USA / hrsg. von Josef Becker ... - München : Vögel, 1976. - S. 31-48. - (Schriften der Philosophischen Fachbereiche der Universität Augsburg ; 10)

  19. SEA SURFACE TEMPERATURE and Other Data from COLUMBUS and Other Platforms from 19250801 to 19320914 (NODC Accession 9400016)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Sea Surface Temperatures (SST) data from 1925 to 1932 collected using ships COLUMBUS and EUROPA was submitted in two diskettes by Dr. Gerd Becker, Bundesamt fuer...

  20. Migraine

    Science.gov (United States)

    ... headache Migraine cause CT scan of the brain Central nervous system and peripheral nervous system References Becker WJ. Acute migraine treatment in adults. Headache . 2015;55(6):778-793. PMID: 25877672 ...

  1. Pop / Anneli Remme

    Index Scriptorium Estoniae

    Remme, Anneli, 1968-

    2004-01-01

    Heliplaatidest: Hortus Musicus "Eesti heliloojad III", Brad Mehldau Trio "Anything Goes", Vitamins For You "I'm sorry for ever and for always", The Coral "Nightfreak and the Sons of Becker", Lionel Richie "Just For You", David Byrne "Grown Backwards"

  2. Plaadid / Valner Valme

    Index Scriptorium Estoniae

    Valme, Valner, 1970-

    2004-01-01

    Uutest plaatidest The Von Bondies "Pawn Shoppe Heart", Papa M "Hole of Burning Alms", Georg Levin "Can't Hold Back", The Coral "Nightfreak And The Sons Of Becker", "In America", Lamb "Between Darkness and Wonder"

  3. A METHODOLOGY FOR THE EVALUATION OF PROCESS SUSTAINABILITY

    Science.gov (United States)

    The twelve principles of green chemistry (Anastas and Warner, 1998) provide a foundation and pathway which allows researchers to incorporate greenness into existing reactions or when developing new technologies. Research from our laboratory (Gonzalez and Becker, 2002) has adopted...

  4. At R209

    CERN Multimedia

    1977-01-01

    Side view of R209, showing a large muon chamber in front of the Iron toroid magnet. Gunter Feilhauer is looking down from top of the magnet. Ulrich Becker (left), Lars Leistam (right) stand on the floor.

  5. Comparison of transgenic plant production for bacterial blight ...

    African Journals Online (AJOL)

    USER

    2010-03-29

    Mar 29, 2010 ... DR - 82 with calli exposed to 300 µM acetosyringone for 2 min. ... provided by the Xa 21 gene. Key words: Transformation efficiency, selection, regeneration, resistance evaluation. ...... Shrawat AK, Becker D, Lorz H (2006).

  6. Impr oving oxid oxidat dants f tive sta from a ability gri-ind of ghe ...

    African Journals Online (AJOL)

    SAM

    2014-08-22

    Aug 22, 2014 ... study were; (1) to evaluate different extracts from peanut skin (PS), pomegranate peels (PP) and olive waste cake. (OP) as a source of natural antioxidants, (2) to charac- .... solubility (Siddhuraju and Becker, 2003; Kequan and.

  7. Growth assessments of Nicotianatabaccumcv.Xanthitransformed ...

    African Journals Online (AJOL)

    Jane

    2011-08-10

    Aug 10, 2011 ... transgenic plants were grown; T1 and the succeeding T2 transgenic plants were obtained. Subsequently, ..... evaluation of T2 plants for salt tolerance, seeds from .... Chen C, Wanduragala S, Becker DF, Dickman MB (2006).

  8. The effect of pesticides and aqueous extracts of Azadirachta indica ...

    African Journals Online (AJOL)

    SARAH

    2014-08-31

    Aug 31, 2014 ... Objective: The objective was to evaluate the effects of foliar application of Jatropha and neem ..... Aqueous jatropha seed extract 80g / L (T2) Aqueous jatropha seed extract ..... Makkar HPS, Becker K, Sporer F, Wink M, 1997.

  9. Investigating the cooperative strategies between China and North ...

    African Journals Online (AJOL)

    2011-04-06

    Apr 6, 2011 ... collaboratively constructed, and that the benefits of the 2 dams should be allocated according to .... cooperative game is used to predict or evaluate the strategies of ... resource management conflicts (Becker and Easter, 1999).

  10. Micronutrient levels in the plasma of Nigerian females with breast ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-06-03

    Jun 3, 2008 ... and is considered to be the leading cancer-related cause of death among ... have received little attention (Adebamowo et al., 2005;. Becker et al., 2007). ..... stress induction and organelle-selective damage. J. Biol Chem.

  11. ROLE OF MONOCYTES AND EOSINOPHILS IN RESPIRATORY SYNCTIAL VIRUS (RSV) INFECTION

    Science.gov (United States)

    Role of Monocytes and Eosinophils in Respiratory Syncytial Virus (RSV) InfectionJoleen M. Soukup and Susanne Becker US Environmental Protection Agency, National Health and Environmental Effects Research Laboratory, Research Triangle Park, NC 27711;...

  12. The effect of phosphodiesterase-5 inhibitors on cerebral blood flow in humans

    DEFF Research Database (Denmark)

    Pauls, Mathilde Mh; Moynihan, Barry; Barrick, Thomas R

    2018-01-01

    , ED, type 2 diabetes, stroke, pulmonary hypertension, Becker muscular dystrophy and subarachnoid haemorrhage. Most studies used middle cerebral artery flow velocity to estimate CBF. Few studies employed direct measurements of tissue perfusion. Resting CBF velocity was unaffected by phosphodiesterase-5...... inhibitors, but cerebrovascular regulation was improved in ED, pulmonary hypertension, diabetes, Becker's and a group of healthy volunteers. This evidence suggests that phosphodiesterase-5 inhibitors improve responsiveness of the cerebral vasculature, particularly in disease states associated...

  13. Infrastructure for Clinical Trials in Duchenne Dystrophy

    Science.gov (United States)

    2010-09-13

    A Zimmerman, T Duong, J Florence and the CINRG Investigators. Pulmonary Function Characteristics of Boys with Duchenne and Becker Muscular Dystrophy ...designated CINRG site staff 1. Has the participant been clinically diagnosed with Limb-Girdle or Becker muscular dystrophy ? LGMD BMD 2. Was...Number: W81XWH-09-1-0592 TITLE: CINRG: Infrastructure for Clinical Trials in Duchenne Dystrophy PRINCIPAL INVESTIGATOR: Avital Cnaan, PhD

  14. Bone health measured using quantitative ultrasonography in adult males with muscular dystrophy

    OpenAIRE

    Morse, C.I.; Smith, J.; Denny, A.; Tweedale, J.; Searle, N.D.; Winwood, K.; Onambele-Pearson, G.L.

    2016-01-01

    Objectives: To compare muscle and bone health markers in adult males (aged 20-59 yrs) with and without muscular dystrophy (MD). Methods: Participants included 11 Fascioscapulohumeral (FSH), 11 Becker?s (Be), 9 limb girdle (LG), 11 Duchenne (DMD), and 14 non-dystrophic controls (CTRL). Physical activity was assessed using Bone (BPAQ) and disability specific (PASIPD) questionnaires. Bone QUS provided T- and Z scores from the Distal Radius (DR) and Mid-shaft tibia (MST). Tibialis anterior cross ...

  15. Escape from Evil? Notes on Capacity, Tragedy, Coding and Non-Destructive Immortality Projects

    Directory of Open Access Journals (Sweden)

    Ronnie Lippens

    2015-09-01

    Full Text Available Like James Hardie-Bick’s (2015 contribution this paper elaborates on the importance for socio-legal studies of Ernest Becker’s (1924-1974 work on the destructive consequences of human … all too human forms of death denial. With Becker, it makes an attempt to think through the question, ‘Is it possible, in the light of the human condition, to escape evil?’ Terminally ill by the early 1970s, Becker himself was left no time to complete his thoughts on this matter. Focussing on the point where Becker left the discussion when he died in 1974 we make an attempt here, still with an eye on the aforementioned question, to explore the work of a number of philosophers whose work we know Becker was familiar with: Benedictus de Spinoza, Henri Bergson, and Albert Camus. In their work, it is argued here, one could find elements towards thinking through the question of evil, and the (impossibility of escaping it. Al igual que el artículo de James Hardie-Bick (2015, este artículo profundiza en la importancia que tiene para los estudios sociojurídicos el trabajo de Ernest Becker (1924-1974 sobre las consecuencias destructivas del ser humano… y la tan humana negación de la muerte. Con Becker, se realiza un intento de reflexionar sobre esta pregunta: “Es posible, a la luz de la condición humana, escapar del mal? Enfermo terminal a comienzos de los años 70, el propio Becker no tuvo tiempo de completar sus pensamientos sobre este asunto. Centrándonos en el punto en el que Becker dejó el debate, cuando murió en 1974, y sin perder de vista esta pregunta, se intenta analizar el trabajo de una serie de filósofos, con el que estaba familiarizado Becker: Benedictus de Spinoza, Henri Bergson y Albert Camus. Se defiende que en su trabajo se pueden encontrar elementos que hacen pensar sobre la cuestión del mal, y la (imposibilidad de escapar de él.DOWNLOAD THIS PAPER FROM SSRN: http://ssrn.com/abstract=2619429

  16. 6th International Symposium on Molecular Allergology (ISMA

    Directory of Open Access Journals (Sweden)

    Christiane Hilger

    2016-10-01

    -patient quantification of allergen-specific IgE Petra Zavadakova, Aurélie Buchwalder, Fabien Rebeaud, Iwan Märki Symposium 4: Relevance of molecular diagnostics for intervention and treatment O7 Longitudinal analysis of Bet v 1-specific epitope repertoires during birch pollen immunotherapy Barbara Gepp, Nina Lengger, Christian Möbs, Wolfgang Pfützner, Christian Radauer, Barbara Bohle O8 A natural CCD-free tool: is polistes sp. venom suitable for polybia paulista diagnosis and therapy? Karine Marafigo De Amicis, Alexandra Sayuri Watanabe, Clovis Eduardo Galvao, Daniele Danella Figo, Jose Roberto Aparecido Santos-Pinto, Mario Sergio Palma, Fabio Fernandes Morato Castro, Jorge Kalil, Fatima Ferreira, Gabriele Gadermaier, Keity Souza Santos Symposium 5: The advent of molecular allergology in epidemiology O9 Peanut oleosins: from identification to diagnostic testing Christian Schwager, Skadi Kull, Frauke Schocker, Jochen Behrends, Wolf-Meinhard Becker, Uta Jappe O10 Endotypes of oral allergy syndrome in childhood: a molecular diagnostic approach Carla Mastrorilli, Salvatore Tripodi, Carlo Caffarelli, Riccardo Asero, Arianna Dondi, Giampaolo Ricci, Carlotta Povesi Dascola, Elisabetta Calamelli, Andrea Di Rienzo Businco, Annamaria Bianchi, Tullio Frediani, Carmen Verga, Iride Dello Iacono, Diego Peroni, Giuseppe Pingitore, Roberto Bernardini, Paolo Maria Matricardi Symposium 6: Molecular AIT: which approaches will make it to market? O11 Mbc4: an innovative molecule to tackle birch pollen and concomitant food allergies Heidi Hofer, Claudia Asam, Michael Hauser, Peter Briza, Martin Himly, Christof Ebner, Fatima Ferreira O12 Challenges and solutions associated with the production of recombinant Bet v 1 allergen as a therapeutic protein Emmanuel Nony, Maxime Le Mignon, Pierrick Lemoine, Karine Jain, Kathy Abiteboul, Monica Arvidsson, Sabina Rak, Philippe Moingeon Clinical Cases: Breakthroughs and headaches from CRD: interactive session CC1 Anaphylaxis caused by lipid transfer proteins: a

  17. Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia

    Directory of Open Access Journals (Sweden)

    Estrella Fernández

    Full Text Available ABSTRACT A 37-year-old female presented with severe apraxia of lid opening (ALO affecting the right upper lid associated with Becker congenital myotonia (MC. The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid. Treatment with BoNT-A is an effective method of managing ALO in Becker MC. This is the first case of unilateral ALO in the course of Becker MC that was successfully treated with injections of botulinum toxin.

  18. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy

    DEFF Research Database (Denmark)

    Berthelsen, Martin Peter; Husu, Edith; Christensen, Sofie Bouschinger

    2014-01-01

    of their weakness. We investigated the functional effects of combined aerobic and strength training in patients with Becker and limb-girdle muscular dystrophies with knee muscle strength levels as low as 3% of normal strength. Eight patients performed 10weeks of aerobic and strength training on an anti...... affected patients with Becker and limb-girdle muscular dystrophies.......Recent studies in patients with muscular dystrophies suggest positive effects of aerobic and strength training. These studies focused training on using bicycle ergometers and conventional strength training, which precludes more severely affected patients from participating, because...

  19. Challenge energy policy turnaround; Herausforderung Energiewende

    Energy Technology Data Exchange (ETDEWEB)

    Becker, Michael; Brandt-Schwabedissen, Annette; Graaff, Rudolf; Queitsch, Peter; Thomas, Roland [Staedte- und Gemeindebund Nordrhein-Westfalen e.V., Duesseldorf (Germany); Becker, Sven [Trianel GmbH, Aachen (Germany); Portz, Norbert; Schmitz, Johannes [Deutscher Staedte- und Gemeindebund, Berlin (Germany)

    2011-07-01

    The documentation under consideration makes suggestions to cities and communities in light of the energy policy turnaround. The documentation contains the following contributions: (1) Power generation by means of renewable energy resources (Johannes Schmitz); (2) The energy policy turnaround needs acceptance - communication as the key to success (Sven Becker); (3) Climate-conscious communal construction planning (Michael Becker); (4) Establishment of climate concepts (Peter Queitsch); (5) Energetic measures at buildings (Annette Brandt-Schwabedissen); (6) Energy political turnaround and awarding (Norbert Portz); (7) Electromobility (Roland Thomas); (8) Position paper of DStB for the energy policy turnaround.

  20. Health behind bars: can exploring the history of prison health systems impact future policy?

    Science.gov (United States)

    Weston, Kathryn M; McCarthy, Louella R; Meyering, Isobelle Barrett; Hampton, Stephen; Mackinnon, Tobias

    2018-02-01

    The value of history is, indeed, not scientific but moral … it prepares us to live more humanely in the present, and to meet rather than to foretell, the future - Carl Becker. Becker's quote reminds us of the importance of revealing and understanding historical practices in order to influence actions in the future. There are compelling reasons for uncovering this history, in particular to better inform government policy makers and health advocates, and to address the impacts of growing community expectations to 'make the punishment fit the crime'. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  1. Awareness programs and change in taste-based caste prejudice

    DEFF Research Database (Denmark)

    Banerjee, Ritwik; Datta Gupta, Nabanita

    ) in the context of caste in India, with management students (potential employers in the near future) as subjects. First, we measure caste prejudice and show that awareness through a TV social program reduces implicit prejudice against the lower caste and the reduction is sustained over time. Second, we find......Becker's theory of taste-based discrimination predicts that relative employment of the discriminated social group will improve if there is a decrease in the level of prejudice for the marginally discriminating employer. In this paper we experimentally test this prediction offered by Becker (1971...

  2. Dragon.

    Directory of Open Access Journals (Sweden)

    Horacio Ortiz

    2006-06-01

    Full Text Available L’ouvrage d’Howard Becker, The Tricks of the Trade , finit sur une parabole, que l’auteur nous indique comme étant une métaphore sur la notion d’illumination. Cette métaphore est ce qui se rapproche le plus, selon Becker, du fait d’avoir, jusqu’à l’os, une manière de penser qui est celle des sciences sociales. La métaphore sur l’illumination particulière des sciences sociales compare les chercheuses en sciences sociales à des dragons océaniques. Pour celles 1 qui ...

  3. Kriminologie und Kriminalistik im Zugriff der Geschichtswissenschaft

    Directory of Open Access Journals (Sweden)

    Peter-Alexis Albrecht

    2007-01-01

    Full Text Available Rezensierte Werke:Silviana Galassi, Kriminologie im Deutschen Kaiserreich. Geschichte einer gebrochenen Verwissen­schaftlichung, Stuttgart: Franz Steiner Verlag 2004, 452 S., ISBN 3-515-08352-9; Peter Becker, Dem Täter auf der Spur. Eine Geschichte der Kriminalistik, Darmstadt: Primus Verlag 2005, 287 S., ISBN 3-89678-275-4; Peter Becker, Richard F. Wetzell (Hg., Criminals and their Scientists. The History of Criminology in International Perspective, Cambridge: Cambridge University Press 2006, 492 S., ISBN 0-521-81012-4

  4. An Inquiry into the Resilience of U.S. Navy Recruits

    Science.gov (United States)

    2015-12-01

    15. Luthar, S. S., Cicchetti, D., & Becker , B. (2000). The construct of resilience: A critical evaluation and guidelines for future work. Child...research suggests that resilience supports one’s ability to positively adjust in adverse conditions (Luthar, Cicchetti, & Becker , 2000; Sutcliffe...5.2 5.3 5.4 5.5 5.6 5.7 T1 T2 T3 T4 R es il ie n ce M ea n Time Points T1 - T4 General Males Females Males w/Females Males w/o Females 28 c. All

  5. Surgical and nonsurgical treatment of total rupture of the pectoralis major muscle in athletes: update and critical appraisal

    Directory of Open Access Journals (Sweden)

    Jörn Kircher

    2010-10-01

    Full Text Available Jörn Kircher, Christoph Ziskoven, Thilo Patzer, Daniela Zaps, Bernd Bittersohl, Rüdiger KrauspeUniversity Hospital, Orthopaedic Department, Heinrich-Heine University Düsseldorf, Düsseldorf, GermanyAbstract: The complete rupture of the pectoralis major tendon is an uncommon injury but has become increasingly common among athletes in recent years. This may be due to a higher number of individuals taking part in high-impact sports and weightlifting as well as the use of anabolic substances, which can make muscles and tendons vulnerable to injury. In recent literature, there are only few recommendations to rely on conservative treatment alone, but there are a number of reports and case series recommending early surgical intervention. Comparing the results of the two treatment regimens, there is clear evidence for a superior outcome after surgical repair with better cosmesis, better functional results, regaining of muscle power, and return to sports compared with the conservative treatment. In summary, anatomic surgical repair is the treatment of choice for complete acute ruptures of the pectoralis major tendon or muscle in athletes.Keywords: pectoralis major, rupture, athlete, conservative treatment, surgical treatment, steroid, tendon, sports injury

  6. Numerical simulation of the dynamic flow behaviour in a bubble column: comparison of the bubble-induced turbulence models in K-epsilon model

    NARCIS (Netherlands)

    Zhang, D.; Deen, N.G.; Kuipers, J.A.M.

    2005-01-01

    Numerical simulations of the gas-liquid bubbly flow in a bubble column were conducted with the commercial CFD package CFX-4.4 to investigate the performance of three models (Pfleger and Becker, 2001; Sato and Sekoguchi, 1975; Troshko and Hassan, 2001) to account for the bubble-induced turbulence in

  7. Attraction of Mosquitoes to Diethyl Methylbenzamide and Ethyl Hexanediol

    Science.gov (United States)

    1990-09-01

    tant to the biting midges Culicoides pulicaris that 8% ethyl acetate was attractant to the Linn. and Culicoides puncticoUis Becker (Cera- vinegar fly...Drosoph- finding by mosquitoes (Diptera: Culcidae): a review. ila melanogaster Meigen to the products of ferment - Bull. Entomol. Res. 70:525-532. ing banana

  8. Southern African Journal of Anaesthesia and Analgesia - Vol 16, No ...

    African Journals Online (AJOL)

    Entropy of the electroencephalogram as applied in the M-Entropy S/5TM Module (GE Healthcare) during increases in nitrous oxide and constant sevofl urane concentrations · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. F.J Smith, S Spijkerman, P.J Becker, ...

  9. A visit to Cornell University, Ithaca, USA : Notes on the International Workplace Studies Program IWSP

    NARCIS (Netherlands)

    van der Voordt, Theo

    2004-01-01

    In October 2004 I had the opportunity to visit Cornell University in Ithaca, New York. The purpose of my visit was to learn more about the International Workplace Studies Program (IWSP) that was launched in 1989 by Franklin Becker and William (Bill) Sims. Frank is the present chair (Bill the former)

  10. The Use of Physarum for Testing of Toxicity/Mutagenicity

    Science.gov (United States)

    1984-04-19

    grade and sup- pliers were as follows: ethanol, U.S. Industrial Co.; hydrazine dihydrochloride Fisher Chemical Co.; hydrocarbons, Alltech Co. and Theta...procedure had its own particular advantages and limitations. The microplasmodial growth inhibition system (Becker et al., 1963) was convenient because it

  11. Extrasynaptic location of laminin beta 2 chain in developing and adult human skeletal muscle

    DEFF Research Database (Denmark)

    Wewer, U M; Thornell, L E; Loechel, F

    1997-01-01

    and Becker muscular dystrophy. Immunoaffinity chromatography of muscle extracts with a monoclonal antibody to the laminin alpha 2 chain followed by immunoblotting with various antibodies to the beta 2 chain demonstrated the presence of the laminin-4 (alpha 2-beta 2-gamma 1) isoform. Together the present...

  12. A pilot study of muscle plasma protein changes after exercise

    DEFF Research Database (Denmark)

    Dahlqvist, Julia R; Voss, Line G; Lauridsen, Thomas

    2014-01-01

    profiles were measured before and after exercise in 3 groups: subjects affected by either Becker muscular dystrophy or McArdle disease, and healthy subjects. RESULTS: Mb and TnI appeared early in the blood, and the increase of TnI was only observed in patients with muscle disease. The CK increase was more...

  13. Characterization of DLK1+ cells emerging during skeletal muscle remodeling in response to myositis, myopathies, and acute injury

    DEFF Research Database (Denmark)

    Andersen, Ditte C; Petersson, Stine J; Jørgensen, Louise H

    2009-01-01

    , DLK1 was upregulated in all human myopathies analyzed, including Duchenne- and Becker muscular dystrophies. Substantial numbers of DLK1(+) satellite cells were observed in normal neonatal and Duchenne muscle, and furthermore, myogenic DLK1(+) cells were identified during muscle regeneration in animal...

  14. Meaning of Muscular Dystrophy

    Science.gov (United States)

    ... is very similar to Duchenne, except kids with Becker MD may not have problems until much later, when they're teenagers or adults. It takes a long time for their muscles to become weak. How Does a Kid Get Muscular Dystrophy? MD is not contagious (say: con-TAY-juss), ...

  15. Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

    Science.gov (United States)

    2017-08-10

    Inherited Cardiac Arrythmias; Long QT Syndrome (LQTS); Brugada Syndrome (BrS); Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT); Early Repolarization Syndrome (ERS); Arrhythmogenic Cardiomyopathy (AC, ARVD/C); Hypertrophic Cardiomyopathy (HCM); Dilated Cardiomyopathy (DCM); Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy); Normal Control Subjects

  16. I snova pro ljubov... k paukam i politseiskim / Jevgeni Levik

    Index Scriptorium Estoniae

    Levik, Jevgeni

    2002-01-01

    Prantsuse mängufilm "Armastab, ei armasta" ("A la folie...pas du tout") : režissöör Laetitia Colombani ja kaks ameerika mängufilmi - "Super Troopers" : režissöör Jay Chandrasekhar ning "Van Wilder : Party Liaison" : režissöör Walt Becker

  17. Berlinskaja stena i Rimskije kanikulõ / Jevgeni Levik

    Index Scriptorium Estoniae

    Levik, Jevgeni

    2003-01-01

    Mängufilmid "Hüvasti, Lenin!" ("Good Bye, Lenin!") : režissöör Wolfgang Becker : Saksamaa 2003 ja "Lizzie McGuire - koolitüdrukust popstaariks" ("The Lizzie McGuire Movie") : režissöör Jim Fall : Ameerika Ühendriigid 2003

  18. Secreted Protein Acidic and Rich in Cysteine (SPARC) in Human Skeletal Muscle

    DEFF Research Database (Denmark)

    Jørgensen, Louise H; Petersson, Stine J; Sellathurai, Jeeva

    2009-01-01

    indicated a function of SPARC in skeletal muscle. We therefore found it of interest to study SPARC expression in human skeletal muscle during development and in biopsies from Duchenne and Becker muscular dystrophy and congenital muscular dystrophy, congenital myopathy, inclusion body myositis...

  19. affect rice in integrated rice-fish culture in Lake Victoria Basin, Kenya?

    African Journals Online (AJOL)

    AGHOGHO A

    Rice field ecology and fish culture - an overview. Hydrobiologia 259:91-113. Fernando CH, Halwart M (2000). Fish farming in irrigation systems. Fisheries Management and Ecol. 7:45-54. Frei M, Razzak MA, Hossain MM, Ochme M, Dewan S, Becker K. (2007). Performance of common carp, Cyprinus carpio L. and Nile.

  20. Follow-up of conservatively treated sleep apnoea patients

    African Journals Online (AJOL)

    Health of School Children: Treatment of /ntestinal. Helminths and Schistosomiasis (WHO/GDS/IPI/GTD 92.1). Geneva: WHO, 1992. Accepted 17 June 1994. Follow-up of conservatively treated sleep apnoea patients. P. R. Bartel, J. Verster, P. J. Becker. Polysomnograms have been recorded at our laboratory since 1985 for ...

  1. 2′-O-methyl nucleotide modified DNA substrates influence the ...

    Indian Academy of Sciences (India)

    2014-07-18

    Jul 18, 2014 ... 1. Introduction. Due to the development of novel nucleotide derivatives, ..... which is located in a spiral ring made of 152-157 bases before α6. ..... 8 126–. 130. Majlessi M, Nelson NC and Becker MM 1998 Advantages of 2'-O-.

  2. Testing the Human Capital Development Model: The Case of Apprenticeships in Turkey

    Science.gov (United States)

    Akpinar, Taner; Gün, Servet

    2016-01-01

    Human capital theory was developed to study how individual agents make rational choices or how they invest in human capital to maximize their welfare. One of the leading founders of this perspective, Becker, argues that schooling, on-the-job training, medical care, migration and searching for information about prices and incomes are different…

  3. Local Anesthesia Part 2: Technical Considerations

    Science.gov (United States)

    Reed, Kenneth L.; Malamed, Stanley F.; Fonner, Andrea M.

    2012-01-01

    An earlier paper by Becker and Reed provided an in-depth review of the pharmacology of local anesthetics. This continuing education article will discuss the importance to the safe and effective delivery of these drugs, including needle gauge, traditional and alternative injection techniques, and methods to make injections more comfortable to patients. PMID:23050753

  4. Evaluating Twitter and Its Impact on Student Learning in Principles of Economics Courses

    Science.gov (United States)

    Al-Bahrani, Abdullah; Patel, Darshak; Sheridan, Brandon J.

    2017-01-01

    Ever since Becker and Watts (1996) found that economic educators rely heavily on "chalk and talk" as a primary teaching method, economic educators have been seeking new ways to engage students and improve learning outcomes. Recently, the use of social media as a pedagogical tool in economics has received increasing interest. The authors…

  5. The Interactionist Imagination

    DEFF Research Database (Denmark)

    to the works of: Georg Simmel, Robert E. Park, George Herbert Mead, Everett C. Hughes, Herbert Blumer, Manford H. Kuhn, Erving Goffman, Harold Garfinkel, Anselm L. Strauss, Jack D. Douglas, Howard S. Becker, Stanford M. Lyman, Arlie R. Hochschild and Gary Alan Fine....

  6. The Effects of Parenting Styles on Children's Self-Esteem: A Developmental Perspective.

    Science.gov (United States)

    Elings, Joette Renee

    The effects of parenting styles on children's self-esteem were examined by dividing the empirical literature into three age groups: the preschool child; the elementary child; and the adolescent. Major literature reviews by W. C. Becker, B. Martin, and E. E. Maccoby and J. A. Martin are discussed and inconsistencies among the reviews are examined.…

  7. The Use of Ferroelectric Ceramics to Charge Small Capacitor Banks

    Science.gov (United States)

    2017-09-01

    CENTER D BLANKENBILLER 106 DIR US ARL (PDF) RDRL DP RC BECKER TW BJERKE RDRL WMM JH BEATTY RDRL WMM A JJ LA SCALA...KORNECKI SM WALSH RDRL WMM E VL BLAIR SM KILCZEWSKI JC LASALVIA PJ PATEL JJ SWAB LR VARGAS-GONZALEZ RDRL WML B

  8. Antihyperglycemic activity of the bark methanolic extract of Syzygium ...

    African Journals Online (AJOL)

    Rahul Chandran

    The glucose homeostasis was observed till 180th min in glucose loaded rats treated with the ... formation.1 The pathogenesis of type-2 diabetes is not fully under- stood. .... Becker.15 The results are expressed as gallic acid equivalents. The ..... (Mucuna pruriens var. utilis) extracts and certain non-protein amino/imino · acids ...

  9. 77 FR 31372 - Proposed Flood Hazard Determinations

    Science.gov (United States)

    2012-05-25

    ..., identified by Docket No. FEMA-B-1255, to Luis Rodriguez, Chief, Engineering Management Branch, Federal... (email) [email protected] . FOR FURTHER INFORMATION CONTACT: Luis Rodriguez, Chief... Stokes Lee Center Road, Lee Center, NY 13363. Town of Marcy Municipal Offices, 8801 Paul Becker Road...

  10. New Advances in Molecular Therapy for Muscle Repair after Diseases and Injuries

    Science.gov (United States)

    2012-01-01

    muscle regeneration in a preclinical mouse model of muscle regeneration and Duchenne muscular dystrophy (DMD...improve the regeneration of muscles damaged by trauma or by chronic muscle diseases, such as Duchenne and Becker muscular dystrophies . In the past...selected MDX mice, a mouse model for Duchenne muscular dystrophy [DMD], to investigate if MMP1 could enhance muscle cell migration and

  11. Diagnosis of Duchenne

    Science.gov (United States)

    ... or by a Western blot test of the muscle protein (a chemical process that tests for the chemical presence of dystrophin). This type of testing can usually tell whether a person has Duchenne or Becker muscular dystrophy. Because this is a surgical procedure, it more ...

  12. The dynamic relationships between union dissolution and women’s employment: A life-history analysis of 16 countries

    NARCIS (Netherlands)

    van Damme, M.; Kalmijn, M.

    2014-01-01

    The specialization theory from Gary Becker is often used to explain the effect of women’s work on the risk of divorce. The main argument is that women with little work experience have higher economic costs to exit marriage. Using the Fertility and Family Surveys, we test for 16 countries to what

  13. The dynamic relationships between union dissolution and women's employment: A life-history analysis of 16 countries

    NARCIS (Netherlands)

    van Damme, M.; Kalmijn, M.

    2014-01-01

    The specialization theory from Gary Becker is often used to explain the effect of women’s work on the risk of divorce. The main argument is that women with little work experience have higher economic costs to exit marriage. Using the Fertility and Family Surveys, we test for 16 countries to what

  14. Classic papers in glaucoma

    National Research Council Canada - National Science Library

    Ritch, Robert; Caronia, Ronald M

    1999-01-01

    ... Elimination of Intraocular Fluid J.S. Friedenwald The Formation of the Intraocular Fluid. Proctor Award Lecture of the Association for Research in Ophthalmology W.M. Grant, Tonographic Method for Measuring the Facility and Rate of Aqueous Flow in Human Eyes P.A. Chandler , Malignant Glaucoma B. Becker, Decrease in Intraocular Pressure in Man by a Carbo...

  15. Promoting increased Chlorella sorokiniana Shih. et Krauss ...

    African Journals Online (AJOL)

    Prof. Nweze

    2014-12-31

    Dec 31, 2014 ... Also, the extract obtained from the leaves of Moringa in 80% ethanol contains growth enhancing principles for higher plants. (Makkar and Becker, 1996). In view of the fact that. Chlorella biomass is much sought after for use as health food supplement and for biofuels among other uses, enhanced production ...

  16. Towards Distributed Intelligence: A High Level Definition

    Science.gov (United States)

    2004-12-01

    Some of the first research in multi-robot systems came in the foraging /sorting area by Parker [77] and Beckers [9] and was likely fueled by the bio...chapter 24, pages 28–39. Artificial Intelligence at MIT. The MIT Press, 1989. 15. R.A. Brooks. Robotic Science, chapter 11, The Whole Iguana , pages 432

  17. "Build Your Social Confidence": A Social Anxiety Group for College Students

    Science.gov (United States)

    Damer, Diana E.; Latimer, Kelsey M.; Porter, Sarah H.

    2010-01-01

    Social anxiety, a common concern among college students, carries significant negative consequences. Group therapy is an efficient and cost-effective way to provide treatment, and cognitive-behavioral group therapy (CBGT; Heimberg & Becker, 2002) is the most widely researched and empirically supported treatment for persons with social anxiety…

  18. Minority Language Researchers and Their Role in Policy Development

    Science.gov (United States)

    Gorter, Durk

    2012-01-01

    This paper deals with the role of researchers in the development of language policies for European minority languages. This question is placed in the context of a long-standing debate in sociology to which several authors have contributed; among them are Max Weber, Howard Becker and Alvin Gouldner. This article also briefly refers to the European…

  19. Toward a New Measure for Faith and Civic Engagement: Exploring the Structure of the FACE Scale

    Science.gov (United States)

    Droege, Jocelyn R.; Ferrari, Joseph R.

    2012-01-01

    Civic and political engagement may encourage individuals to make positive societal contributions and thus act as responsible and productive citizens. A positive relationship between civic/political engagement and the extent of one's faith-based beliefs and behaviors has been the basis for a growing field of research (e.g., Becker & Dhingra, 2001;…

  20. Questioning quantum mechanics

    Science.gov (United States)

    Frappier, Mélanie

    2018-03-01

    A century after its inception, quantum mechanics continues to puzzle us with dead-and-alive cats, waves "collapsing" into particles, and "spooky action at a distance." In his first book, What Is Real?, science writer and astrophysicist Adam Becker sets out to explore why the physics community is still arguing today about quantum mechanics's true meaning.

  1. Sensitivity in Teachers' Interaction Processes Is Central to the Improvement of Teacher-Child Relationships. Commentary on: "Formations of Attachment Relationships towards Teachers Lead to Conclusions for Public Child Care"

    Science.gov (United States)

    Ahnert, Lieselotte

    2016-01-01

    In this commentary, Ahnert addresses the Beckh and Becker-Stoll's (2016) paper that characterized positive teacher-child relationships through high levels of closeness and low levels of conflict. Once teacher-child relationships are positively established, the children benefit the most in developmental domains which are considered typically weak…

  2. Old Testament exegesis: Reflections on methodology

    African Journals Online (AJOL)

    p1243322

    1914:v). 2 Becker (2005:3) states as follows: “Die alttestamentliche Texte haben ein Alter von etwa. 2800 bis 2000 Jahren; sie stammen aus einer anderen kulturellen Welt; sie sind in einer fremden, völlig anders strukturierten Sprache geschrieben. Wer solche Texte verstehen will, muβ sie in unsere Sprach- und Denkwelt ...

  3. Discrimination against Facially Stigmatized Applicants in Interviews: An Eye-Tracking and Face-to-Face Investigation

    Science.gov (United States)

    Madera, Juan M.; Hebl, Michelle R.

    2012-01-01

    Drawing from theory and research on perceived stigma (Pryor, Reeder, Yeadon, & Hesson-McInnis, 2004), attentional processes (Rinck & Becker, 2006), working memory (Baddeley & Hitch, 1974), and regulatory resources (Muraven & Baumeister, 2000), the authors examined discrimination against facially stigmatized applicants and the processes involved.…

  4. The Effects of Split-Attention and Redundancy on Cognitive Load When Learning Cognitive and Psychomotor Tasks

    Science.gov (United States)

    Pociask, Fredrick D.; Morrison, Gary

    2004-01-01

    Human working memory can be defined as a component system responsible for the temporary storage and manipulation of information related to higher level cognitive behaviors, such as understanding and reasoning (Baddeley, 1992; Becker & Morris, 1999). Working memory, while able to manage a complex array of cognitive activities, presents with an…

  5. Poor Facial Affect Recognition among Boys with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Hinton, V. J.; Fee, R. J.; De Vivo, D. C.; Goldstein, E.

    2007-01-01

    Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a…

  6. Culture conditions for the production of a tannase of Aspergillus ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-06-03

    Jun 3, 2009 ... hydrogen bonds in solutions (Spencer et al., 1988) resulting in the ... death at higher levels of intake (Garg et al., 1992; Makkar and Becker ..... Spencer CM, Cai Y, Martin R, Gaffney SH, Goulding PN, Magnolato D,. Lilley TH ...

  7. Co-occurrence of Xp21 microduplication encompassing the DMD ...

    African Journals Online (AJOL)

    Defects in the DMD gene (deletion, duplication, or mutation) are associated with Duchenne and Becker muscular dystrophies (DMD and BMD). Combined microduplications of Xp21/DMD with 17p12/PMP22 are extremely rare with only one published report of a male patient with changes in both the DMD and PMP22 genes.

  8. The effect of positive end-expiratory pressure on pulse pressure ...

    African Journals Online (AJOL)

    The effect of positive end-expiratory pressure on pulse pressure variation. FJ Smith, M Geyser, I Schreuder, PJ Becker. Abstract. Objectives: To determine the effect of different levels of positive end-expiratory pressure (PEEP) on pulse pressure variation (PPV). Design: An observational study. Setting: Operating theatres of a ...

  9. Editorial

    African Journals Online (AJOL)

    Raoul

    2009-09-04

    Sep 4, 2009 ... Provider Initiated Testing and Counseling (PITC) for HIV in resource-limited clinical settings: important questions unanswered. Joseph Becker 1&, Landry Tsague2, Ruben Sahabo2, Peter Twyman2. 1Stanford University School of Medicine, Department of Medicine, Division of Emergency Medicine, ...

  10. A comparison of EEG spectral entropy with conventional quantitative ...

    African Journals Online (AJOL)

    A comparison of EEG spectral entropy with conventional quantitative EEG at varying depths of sevoflurane anaesthesia. PR Bartel, FJ Smith, PJ Becker. Abstract. Background and Aim: Recently an electroencephalographic (EEG) spectral entropy module (M-ENTROPY) for an anaesthetic monitor has become commercially ...

  11. America's Opinion Leader Historians on Behalf of Success.

    Science.gov (United States)

    Carpenter, Ronald H.

    1983-01-01

    Examines the rhetorical role of several twentieth century historians who were opinion leaders on behalf of the American way of achieving success: by emulating the earlier qualities of our frontier and founding fathers. Discusses the role of Frederick Turner Jackson, Charles A. Beard, Carl Becker, Allan Nevins, and others. (PD)

  12. A Survey of Economic Models of Criminal Behavior

    Science.gov (United States)

    1987-10-01

    Economic Research, 1-54. Bentham , Jeremy (1931). Theory of Legislation. New York: Harcourt Brace. Block, Michael K. and J. M. Heineke (1975). A Labor...criminology in the eighteenth and nineteenth centuries, Beccaria and Bentham , explicitly applied an economic framework. Becker sees his work as re

  13. Assessments of CHF correlations based on full-scale rod bundle experiments

    International Nuclear Information System (INIS)

    Sardh, K.; Becker, K.M.

    1986-02-01

    In the present study the Barnett, the Becker, the Biasi, the CISE-4, the XN-1, the EPRI and the Bezrukov burnout correlations have been compared with burnout measurements obtained with full scale 81, 64, 36 and 37-rod bundles. The total power as well as the local power hypothesis was employed for the comparisons. The results clearly indicated that the Biasi and the CISE-4 correlations do not predict the burnout conditions in full-scale rod bundles. Since, these correlations yield non-conservative results their use in computer programs as for instance RELAP, TRAC or NORA should be avoided. Considering that the effects of spacers were not included in the predictions, the Becker and the Bezrukov correlations were in excellent agreement with the experimental data. However, it should be pointed out that the Bezrukov correlation only covered the 70 and 90 bar data, while the Becker correlation agreed with the experimental data in the whole pressure range between 30 and 90 bar. The Barnett, the XN-1 and the EPRI correlations were also in satisfactory agreement with the experiments. We therefore conclude that for predictions of the burnout conditions in full-scale BWR rod bundles the Becker correlation should be employed. (author)

  14. South African Medical Journal - Vol 104, No 3 (2014)

    African Journals Online (AJOL)

    ... pseudomonal infection on pulmonary function testing in individuals with cystic fibrosis in Pretoria, South Africa · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. A Pentz, P Becker, R Masekela, O Coetzee, RJ Green, 191-194. http://dx.doi.org/10.7196/SAMJ.7222 ...

  15. SINET: Ethiopian Journal of Science - Vol 28, No 2 (2005)

    African Journals Online (AJOL)

    Quantitative genetic analysis of total glucosinolate, oil and protein contents in Ethiopian mustard (Brassica carinata A. Braun) · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. Nigussie Alemayehu, Heiko Becker, 141-150. http://dx.doi.org/10.4314/sinet.v28i2.18250 ...

  16. Browse Title Index

    African Journals Online (AJOL)

    Items 201 - 250 of 333 ... Vol 28, No 2 (2005), Quantitative genetic analysis of total glucosinolate, oil and protein contents in Ethiopian mustard (Brassica carinata A. Braun), Abstract PDF. Nigussie Alemayehu, Heiko Becker. Vol 21, No 2 (1998), Ranked k-longest paths in acyclic networks, its algorithm and application.

  17. 78 FR 72069 - Proposed Collection; Comment Request

    Science.gov (United States)

    2013-12-02

    ... information is necessary for the proper performance of the functions of the agency, including whether the... proposed information collection; (c) ways to enhance the quality, utility, and clarity of the information... Deployment and Distribution Command (AMSSD-PP), ATTN: John Becker, Scott AFB, Illinois, 62225-1604, or call...

  18. Advances in Synthetic Peptides Reagent Discovery

    Science.gov (United States)

    2013-07-01

    phage [4], bacteria [5-7], yeast [8, 9], insect cell/baculovirus [10], as well as mammalian cell culture [11]. Although each system has its unique...dependent characteristics,” The Journal of Immunology , 147(10), 3545-3552 (1991). [32] S. Becker, H. Höbenreich, A. Vogel et al., “Single‐Cell High

  19. Metabolic Mapping of Breast Cancer with Multiphoton Spectral and Lifetime Imaging

    Science.gov (United States)

    2007-03-01

    2002. Spectrally resolved fluorescence lifetime imaging microscopy. Appl. Spec- trosc. 56 :155-166. 38. Becker, W., A. Bergmann, E. Haustein , Z...photon fluores- cence lifetime imaging microscopy of macrophage-mediated antigen processing. J. Microsc. 185 :339-353. 45. Lin, H.J., P. Herman , and

  20. The Impacts of Family Size on Investment in Child Quality

    Science.gov (United States)

    Caceres-Delpiano, Julio

    2006-01-01

    Using multiple births as an exogenous shift in family size, I investigate the impact of the number of children on child investment and child well-being. Using data from the 1980 US Census Five-Percent Public Use Micro Sample, 2SLS results demonstrate that parents facing a change in family size reallocate resources in a way consistent with Becker's…

  1. Phenotype-Genotype analysis of dystrophinopathy caused by ...

    African Journals Online (AJOL)

    Background: The dystrophinopathies, duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are common X-linked genetic myopathies resulting from mutations in the dystrophin gene. Duplication is an uncommon mechanism of mutation occurring in about 5% of DMD cases. The global prevalence of DMD is ...

  2. Why do successful restaurants not raise their prices? : Market forces of demand and the all-or-nothing demand curve

    NARCIS (Netherlands)

    Folmer, Henk; Leen, Auke

    Becker (J Political Econ 99:1109-1116, 1991) addresses the problem of persistent queues at popular restaurants. He poses the question why such restaurants do not raise their prices, thus reducing the queues while expanding profits. He presents a solution based on the assumption that demand by a

  3. South African Journal of Clinical Nutrition - Vol 24, No 4 (2011)

    African Journals Online (AJOL)

    South African private practising clinical dietitians' perceptions of the relevance of service-specific healthcare marketing principles and communication elements · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. LM Hanekom, GJ Gericke, PJ Becker, 192-198.

  4. Advanced Machining Toolpath for Low Distortion

    Science.gov (United States)

    2017-02-28

    Advanced Machining Toolpath for Low Distortion FINAL STATUS REPORT Prepared by Brian Becker R&D Technology Manager Third Wave Systems, Inc... Machining Toolpath for Low Distortion December 2016 Contract No.: W911W6-16-P-0044 2 Table of Contents 1.0 EXECUTIVE SUMMARY...2 2.1 Task 1: Collect Details of Machining Lab to Support

  5. Tumour reduction with a Cavitron Ultrasonic Surgical Aspirator® in ...

    African Journals Online (AJOL)

    of a scarf made the patient appear natural and presentable. Figure 1: The fungating tumour before tumour reduction with a Cavitron Ultrasonic Surgical Aspirator®. Tumour reduction with a Cavitron Ultrasonic. Surgical Aspirator® in the palliative care of anaplastic thyroid cancer. CASE REPORT. JHR Becker,1,2 F Ghoor1,2.

  6. The Photospheric Flow near the Flare Locations of Active Regions

    Indian Academy of Sciences (India)

    tribpo

    in the active regions along with few locations of upflows. The localised upflows are observed in the light bridges and emerging flux regions with different speeds (Beckers & Schroter 1969). The flow patterns of flare locations in the active regions are observed by using the tower vector magnetograph (TVM) of Marshall.

  7. Radiation Protection in the Application of Active Detection Technologies

    Science.gov (United States)

    2013-07-01

    BECKER, S.M. (2004). “Emergency communication and information issues in terrorism events involving radioactive materials,” Biosecur Bioterror. 2(3...National Council on Radiation Protection and Measurements. Considerations Regarding the Unintended Radiation Exposure of the Embryo, Fetus or Nursing

  8. Marital dissolution: an economic analysis.

    Science.gov (United States)

    Hunter, K A

    1984-01-01

    A longitudinal analysis of factors affecting marital dissolution in the United States is presented using data from the Coleman-Rossi Retrospective Life History. Factors considered include labor force participation of both spouses, wage growth, size of family unit, age at marriage, and educational status. The study is based on the economic analysis approach developed by Gary S. Becker and others.

  9. Body Mass Index, Nutrient Intakes, Health Behaviours and Nutrition Knowledge: A Quantile Regression Application in Taiwan

    Science.gov (United States)

    Chen, Shih-Neng; Tseng, Jauling

    2010-01-01

    Objective: To assess various marginal effects of nutrient intakes, health behaviours and nutrition knowledge on the entire distribution of body mass index (BMI) across individuals. Design: Quantitative and distributional study. Setting: Taiwan. Methods: This study applies Becker's (1965) model of health production to construct an individual's BMI…

  10. Browse Title Index

    African Journals Online (AJOL)

    Items 451 - 500 of 1309 ... E Pretorius, H Oberholzer, P Becker. Vol 13, No 1 (2016), Comparing the influence of relaxation training and consumption of valerian on insomnia of menopause women: A randomized clinical trial, Abstract PDF. Azam Jokar, Atefe Kargosha, Marzieh Akarzadeh, Nasrin Asadi, Zahra Setoudeh.

  11. A Technology Integration Education (TIE) Model: Millennial Preservice Teachers' Motivations about Technological, Pedagogical, and Content Knowledge (TPACK) Competencies

    Science.gov (United States)

    Holland, Denise D.; Piper, Randy T.

    2014-01-01

    Nobel laureates Schultz (1971) and Becker (1964, 1993) reinvigorated the analysis of education investments. Human capital investments that improve cognitive skills for elementary and secondary students have important economic implications. An interdisciplinary, 12-construct technology integration education (TIE) model was developed. The sample…

  12. Stimulation of vesicular-arbuscular mycorrhizal fungi by mycotrophic and nonmycotrophic plant root systems.

    Science.gov (United States)

    Schreiner, R P; Koide, R T

    1993-08-01

    Transformed root cultures of three nonmycotrophic and one mycotrophic plant species stimulated germination and hyphal growth of the vesicular-arbuscular mycorrhizal fungus Glomus etunicatum (Becker & Gerd.) in a gel medium. However, only roots of the mycotrophic species (carrot) supported continued hyphal exploration after 3 to 4 weeks and promoted appressoria formation by G. etunicatum.

  13. Stimulation of Vesicular-Arbuscular Mycorrhizal Fungi by Mycotrophic and Nonmycotrophic Plant Root Systems

    OpenAIRE

    Schreiner, R. Paul; Koide, Roger T.

    1993-01-01

    Transformed root cultures of three nonmycotrophic and one mycotrophic plant species stimulated germination and hyphal growth of the vesicular-arbuscular mycorrhizal fungus Glomus etunicatum (Becker & Gerd.) in a gel medium. However, only roots of the mycotrophic species (carrot) supported continued hyphal exploration after 3 to 4 weeks and promoted appressoria formation by G. etunicatum.

  14. Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

    Czech Academy of Sciences Publication Activity Database

    Fajkusová, L.; Lukáš, Z.; Tvrdíková, M.; Kuhrová, V.; Hájek, J.; Fajkus, Jiří

    2001-01-01

    Roč. 11, č. 2 (2001), s. 133-138 ISSN 0960-8966 R&D Projects: GA MZd IZ3700; GA MZd NM19; GA MZd NA5227 Institutional research plan: CEZ:AV0Z5004920 Keywords : Duchenne muscular dystrophy * Becker muscular dystrophy * dystrophin mRNA Subject RIV: BO - Biophysics Impact factor: 2.547, year: 2001

  15. Ghana Journal of Development Studies, Volume 7, Number 2

    African Journals Online (AJOL)

    UDS-CAPTURED

    Ghana Journal of Development Studies, Volume 7, Number 2 2010. 53 ... The use of motorcycles for urban passenger transport in Nigeria popularly called okada is a source of ..... Gap in Mexico Washington, DC: The World Bank. Becker, S. G. ...

  16. Reference Sources: Little Known to Basic

    Science.gov (United States)

    RQ, 1970

    1970-01-01

    This article lists seventy-eight reference sources, and is divided into the following four sections: (1) Useful But Little-Known Reference Tools by John Fetros, (2) The Statesman's Year-Book by James Becker, (3) Single Volume Scientific Encyclopedias by Jack Clarke and (4) Ten Basic Sources of Business and Economic Statistics by James Woy. (MF)

  17. Methylene Blue Enteric Mapping for Intraoperative Localization in Obscure Small Bowel Hemorrhage: Report of a New Technique and Literature Review

    Science.gov (United States)

    2012-07-12

    J Gastroenterol 2010;16:302 4. 3. Meyer CT, Troncale FJ, Galloway S, Sheahan DG. Arteriovenous malformation of the bowel: an analysis of 22 cases and...Becker GJ, Park HM, O’Connor KW, Tarver RD, Scott JA, Jackson VP, Lappas JC, Broadie TA, Holden RW. Portal hypertension due to jejunal vascular

  18. A Model of Interpersonal Persuasion.

    Science.gov (United States)

    Cegala, Donald J.

    The traditional views of audience analysis and rhetorical strategy are examined in terms of modifications necessary for application to persuasion in interpersonal communication contexts. To obtain guidance for ways in which the traditional concepts may be modified, a framework consisting of selected work by Erving Goffman and Ernest Becker is…

  19. An Explication and Partial Test of a Model of Interpersonal Persuasion.

    Science.gov (United States)

    Cegala, Donald J.

    In applying Ernest Becker's work on self-esteem to Erving Goffman's theory of interpersonal society, this paper suggests that Goffman's views about the politeness structure of face-to-face society might be viewed as largely grounded in a basic motivation for individuals to avoid anxiety due to loss of self-esteem. The paper uses this application…

  20. Raamatuautomaadid Hamburgis / A. Bösch ; refereerinud Lea Laurberg-Heckelmann

    Index Scriptorium Estoniae

    Bösch, A.

    2012-01-01

    Refereeritud väljaandest: Bösch, A. Eine Schachtel Literatur ziehen: Bettina von Bülow betreibt in Hamburg Bücherautomaten - Das Angebot reicht vom Comics bis zum Stadtführer. - Lübecker Nachrichten, 30./31.10.2011, lk. 19

  1. Training for Inner City Parents in Child Rearing: Why Fried Chicken Franchises for Parenting Don't Work.

    Science.gov (United States)

    James, Richard; Etheridge, George

    In an effort to examine the effectiveness of commercially produced parent education programs, a child management and communication class given for Memphis, Tennessee, inner city parents is evaluated in this paper. The program, sponsored by the Mid-South Teacher Corps Project, utilized two models: (1) Becker's 1971 "Parents Are Teachers: A…

  2. Our Gifted: Our Future. Proceedings of the Annual Northern Virginia Conference on Gifted/Talented Education (5th, Alexandria, VA, March 7-8, 1980).

    Science.gov (United States)

    Orloff, Jeffrey H., Ed.

    The document contains 13 selected papers from a conference on working with gifted students. Titles and authors include the following: "A Metacurriculum for the Future" (B. Hubbard); "Building a Curriculum to Train Leadership Abilities" (L. Addison); "Gifted Boys, Gifted Girls--What's the Difference" (B. Becker);…

  3. Agro. no 1 June Latest

    African Journals Online (AJOL)

    2. Abu A. H , Ahemen T and IKPECHUKWU P. 1 Department of Veterinary ... weeks which weighed between 627.4g to 631.5g were used to evaluate the ..... Nouala, F. S., Akinbamijo, O. O., Adewumi A., Hoffman, E., Muetzel, S. and Becker, ...

  4. Effets de doses croissantes des composts de fumiers de poules sur ...

    African Journals Online (AJOL)

    SARAH

    31 mai 2014 ... Wa Lwalaba1, Antoine Kanyenga Lubobo1, Becker Ntumba ... avec des rendements variant de 1,4 à 5,1 t.ha-1; les traitements T2 et T5 ayant donné les rendements ...... Pour une évaluation complète, il importe aussi.

  5. Agro. no 1 June Latest

    African Journals Online (AJOL)

    This study was carried out to evaluate the effects of dietary levels of Moringa oleifera ... 2 range 27.67±0.60. The specific growth rate was highest in fish in tank T (0.96±0.01). ..... Makkar and Becker (1997c) who observed 23% CP in the leaves.

  6. to view fulltext PDF

    Indian Academy of Sciences (India)

    2016-10-14

    Oct 14, 2016 ... evolution of the coupling (blue cross-peak in figure 2). Development of TROSY and ...... Jaremko Ł, Jaremko M, Giller K, Becker S and Zweckstetter M ... 2008 Design, synthesis, and evaluation of a lanthanide chelating protein ...

  7. Évaluation de deux variétés de riz (CK73 et CK90) à la Toxicité ...

    African Journals Online (AJOL)

    SARAH

    30 avr. 2017 ... Evaluation of two rice varieties (CK73 and CK90) on iron toxicity and some biotic stress in. Yamoussoukro ... des parties aériennes (Becker et Asch, 2005 ; ... T0 : témoin, variété WITA 9 ; T1 : variété CK 73 ; T2 : variété CK 90.

  8. The Role of Friendship within Social Networks of Divisions at Recruit Training Command and its Effect on the Resilience of Naval Recruits

    Science.gov (United States)

    2017-06-01

    Review, 2(3), 538–555. doi: 10.2307/259141 Luthar, S. S., Cicchetti, D., & Becker , B. (2000). The construct of resilience: a critical evaluation and...Friendship Network at T2 . Integrated Division–Received No Intervention...54  Figure 11.  Division 1 Venting Network at T2 . Integrated Division–Received No Intervention

  9. The Child Quantity-Quality Trade-Off During the Industrial Revolution in England

    DEFF Research Database (Denmark)

    Klemp, Marc; Weisdorf, Jacob L.

    We take Gary Becker's child quantity-quality trade-off hypothesis to the historical record, investigating the causal link from family size to the literacy status of offspring using data from Anglican parish registers, c. 1700-1830. Extraordinarily forhistorical data, the parish records enable us ...

  10. African Journal for Physical Activity and Health Sciences - Vol 22 ...

    African Journals Online (AJOL)

    Assessment of scapular position in patients suffering from shoulder dysfunction · EMAIL FULL TEXT EMAIL FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. E Korkie, A.J. Van Rooijen, A.M. Marais, P.J. Becker, 107-117 ...

  11. Comment on "Habitat split and the global decline of amphibians".

    Science.gov (United States)

    Cannatella, David C

    2008-05-16

    Becker et al. (Reports, 14 December 2007, p. 1775) reported that forest amphibians with terrestrial development are less susceptible to the effects of habitat degradation than those with aquatic larvae. However, analysis with more appropriate statistical methods suggests there is no evidence for a difference between aquatic-reproducing and terrestrial-reproducing species.

  12. Strategic Performance Options in Professional Service Organizations

    NARCIS (Netherlands)

    Doorewaard, J.A.C.M.; Meihuizen, H.E.

    2000-01-01

    In the current debate on HRM and organisational performance (Mahoney and Pandian, 1992; Storey, 1992; Paauwe, 1994; Wright et al, 1994; Flood et al, 1995; Becker and Gerhardt, 1996; Boxall, 1996; Mueller, 1996; Beatty and Schneider, 1997; Coff, 1997; Guest, 1997; Paauwe and Richardson, 1997; Boxall

  13. African Zoology - Vol 28, No 2 (1993)

    African Journals Online (AJOL)

    Relationship between body temperature and air temperature in stridulating male crickets, Gryllus bimaculatus (Orthoptera: Gryllidae) · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. R.B. Toms, J.W.H. Ferguson, S Becker, 71-73 ...

  14. A dynamic-efficiency rationale for public investment in the health of young

    DEFF Research Database (Denmark)

    Andersen, Torben M.; Bhattacharya, Joydeep

    2014-01-01

    under dynamic efficiency and exogenous mortality even when private and public investments are perfect substitutes. If health investment reduces mortality risk but individuals do not internalize its effect on the life-annuity interest rate, the “Philipson-Becker effect” emerges; when the young are net...

  15. Energetic use of renewable fuels. Logistics of energy carrier supply, technologies of usage, boundary conditions for economically efficient use of biomass. Proceedings; Energetische Nutzung nachwachsender Rohstoffe - Logistik der Energietraegerbereitstellung, Technologien der Energietraegernutzung, Rahmenbedinungen fuer den wirtschaftlichen Einsatz von Biomasse. Vortraege

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2008-07-01

    Within the 14th international conference 'Energetical use of renewable fuels' at Freiberg (Federal Republic of Germany) at 11th and 12th September, 2008, the following lectures were held: (a) State of the legislation procedure for the revision of the Renewable Energy Resources Act and Renewable Energy Resources Heat Act (Bernhard Dreher); (b) Power generation from biomass - A task of investigation? (Martin Kaltschmitt); (c) A physical-chemical online analysis of fine dust emissions from wood furnaces (Michael Sattler, Christian Gaegauf, Nicolas Meyer, Maaren Heringa); (d) Actual state of standardization of biogenic solid fuels (Andreas Neff, Frank Baur); (e) Combined heat and power coupling with thermal gasification of biomass - State of the art and actual developments (Juergen Karl); (f) Wood power generation in the practice - Possibilities and potentials (Michael Hoeffling); (g) Biological natural gas - An analysis and evaluation (Alexander Vogel, Stephan Ramesohl); (h) Digestion of biomass ensures a high yield of biogas (Thilo Lehmann, Christina Dornack); (i) Market for wood pellets in the Federal Republic of Germany - State of the art, development, perspectives (Martin Bentele); (j) Report on the expert opinion ''Utilization of biomass for power generation'' of the Scientific Advisory Council agrarian policy at BMELV (Thomas De Witte); (k) About the ecology of short rotation plants (Heino Wolf); (l) Generation of electricity and heat on the basis of straw - The first straw-fired heating plant in Germany (Rainer Knieper); (m) Standardization of liquid fuels in European context (Thomas Brehmer, Franz Heger); (n) Bio fuels of the second generation: Production, quantities of biomass and strategies of supply (Lutz Freytag); (o) Biomass-fired heating plant Simmering (Ludwig Gockner); (p) Industrial network Renewably Energy in the Free State of Saxony (Klaus Beumler); (q) Exemplary regional conversion of an intelligent, decentralised

  16. Beyond Sarrazin? Zur Darstellung von Migration in deutschen Medien am Beispiel der Berichterstattung in SPIEGEL und BILD

    Directory of Open Access Journals (Sweden)

    Ulrike Irrgang

    2011-12-01

    Full Text Available This paper examines how the German news magazine DER SPIEGEL and the daily BILD cover the issue of migration in Germany. As other studies in the early 1990s have shown, the debate in both print media was dominated by negative and polemic articles. The analysis conducted in this paper clarifies to what extent this also applies to the more recent news coverage. By using quantitative and qualitative content analysis, the paper tries to answer the following questions: What kind of actors and institutional players are involved in the covered debate? How is the phenomenon of migration framed politically, economically or culturally? In which way do both news media evaluate migration? The case study includes 30 articles of DER SPIEGEL and 54 articles of BILD; all of them were published in August and October 2010. At that time, Thilo Sarrazin released his book “Deutschland schafft sich ab” which focuses on Muslim immigration and revived the public debate on immigration and integration in Germany. The paper also examines, if this event has affected the news coverage. The results show that the daily BILD still covers migration in a very unbalanced manner. Muslim immigrants are predominantly represented as a threat to the “German culture”. DER SPIEGEL covers the debate in a more differentiated way with articles written by migrants showing Muslims and migrants as part of the German society. However, there are also statements made by politicians as well as entire articles that only emphasise the economic benefit of migration and thereby objectify people with a migrant background. In both print media, the book release had an apparent effect on the coverage. This can be recognized by an increase of articles on migration in October 2010.

  17. Awareness Programs and Change in Taste-based Caste Prejudice

    DEFF Research Database (Denmark)

    Banerjee, Ritwik; Gupta, Nabanita Datta

    2015-01-01

    Becker's theory of taste-based discrimination predicts that relative employment of the discriminated social group will improve if there is a decrease in the level of prejudice for the marginally discriminating employer. In this paper we experimentally test this prediction offered by Garry Becker...... in his seminal work on taste based discrimination, in the context of caste in India, with management students (potential employers in the near future) as subjects. First, we measure caste prejudice and show that awareness through a TV social program reduces implicit prejudice against the lower caste...... and the reduction is sustained over time. Second, we find that the treatment reduces the prejudice levels of those in the left tail of the prejudice distribution - the group which can potentially affect real outcomes as predicted by the theory. And finally, a larger share of the treatment group subjects exhibit...

  18. Eliciting and Measuring Betrayal Aversion using the BDM Mechanism*

    Science.gov (United States)

    Quercia, Simone

    2016-01-01

    Betrayal aversion has been operationalized as the evidence that subjects demand a higher risk premium to take social risks compared to natural risks. This evidence has been first shown by Bohnet and Zeckhauser (2004) using an adaptation of the Becker – DeGroot – Marschak mechanism (BDM, Becker et al. (1964)). We compare their implementation of the BDM mechanism with a new version designed to facilitate subjects’ comprehension. We find that, although the two versions produce different distributions of values, the size of betrayal aversion, measured as an average treatment difference between social and natural risk settings, is not different across the two versions. We further show that our implementation is preferable to use in practice as it reduces substantially subjects’ mistakes and the likelihood of noisy valuations. PMID:27366658

  19. On the predictions and limitations of the Becker–Döring model for reaction kinetics in micellar surfactant solutions

    KAUST Repository

    Griffiths, I.M.

    2011-08-01

    We investigate the breakdown of a system of micellar aggregates in a surfactant solution following an order-one dilution. We derive a mathematical model based on the Becker-Döring system of equations, using realistic expressions for the reaction constants fit to results from Molecular Dynamics simulations. We exploit the largeness of typical aggregation numbers to derive a continuum model, substituting a large system of ordinary differential equations for a partial differential equation in two independent variables: time and aggregate size. Numerical solutions demonstrate that re-equilibration occurs in two distinct stages over well-separated timescales, in agreement with experiment and with previous theories. We conclude by exposing a limitation in the Becker-Döring theory for re-equilibration of surfactant solutions. © 2011 Elsevier Inc.

  20. Numerical design of an EBIS collector to optimize electron collection and ion extraction

    Science.gov (United States)

    Dietrich, Jürgen

    1990-12-01

    For the Frankfurt EBIS (R. Becker et al., Nucl. Instr. and Meth. B24/25 (1987) 838, ref. [1]), a new collector was designed using the relativistic electron optics program EGUN (W.B. Herrmannsfeldt, SLAC-331 (1988), ref. [2]) and the magnetic field program INTMAG (R. Becker, Nucl. Instr. and Meth. B42 (1989) 303, ref. [3]). To model the fringing field of the main solenoid, a bucking coil and a cylindrical shim is provided. The current of the bucking coil and the position and shape of the shim are optimized with INTMAG for minimum fringing field to allow expansion of the electron beam by its space charge. The magnetic field data output from INTMAG is directly used as input for EGUN to calculate the electron and ion trajectories. The initial conditions for the trajectories were computed from the paraxial ray equation. Different operation modes of the collector are investigated including the behaviour of secondary electrons.

  1. Awareness programs and change in taste-based caste prejudice.

    Directory of Open Access Journals (Sweden)

    Ritwik Banerjee

    Full Text Available Becker's theory of taste-based discrimination predicts that relative employment of the discriminated social group will improve if there is a decrease in the level of prejudice for the marginally discriminating employer. In this paper we experimentally test this prediction offered by Garry Becker in his seminal work on taste based discrimination, in the context of caste in India, with management students (potential employers in the near future as subjects. First, we measure caste prejudice and show that awareness through a TV social program reduces implicit prejudice against the lower caste and the reduction is sustained over time. Second, we find that the treatment reduces the prejudice levels of those in the left tail of the prejudice distribution--the group which can potentially affect real outcomes as predicted by the theory. And finally, a larger share of the treatment group subjects exhibit favorable opinion about reservation in jobs for the lower caste.

  2. Awareness programs and change in taste-based caste prejudice.

    Science.gov (United States)

    Banerjee, Ritwik; Datta Gupta, Nabanita

    2015-01-01

    Becker's theory of taste-based discrimination predicts that relative employment of the discriminated social group will improve if there is a decrease in the level of prejudice for the marginally discriminating employer. In this paper we experimentally test this prediction offered by Garry Becker in his seminal work on taste based discrimination, in the context of caste in India, with management students (potential employers in the near future) as subjects. First, we measure caste prejudice and show that awareness through a TV social program reduces implicit prejudice against the lower caste and the reduction is sustained over time. Second, we find that the treatment reduces the prejudice levels of those in the left tail of the prejudice distribution--the group which can potentially affect real outcomes as predicted by the theory. And finally, a larger share of the treatment group subjects exhibit favorable opinion about reservation in jobs for the lower caste.

  3. Experimental core electron density of cubic boron nitride

    DEFF Research Database (Denmark)

    Wahlberg, Nanna; Bindzus, Niels; Bjerg, Lasse

    as well as experimental result. The redistribution of electron density will, if not accounted for, result in increased thermal parameters. It is estimated that 1.7-2 electrons is transferred from boron to nitrogen. [1]: N. Bindzus, T. Straasø, N. Wahlberg, J. Becker, L. Bjerg, N. Lock, A.-C. Dippel, and B......Experimental core electron density of cubic boron nitride Nanna Wahlberg*, Niels Bindzus*, Lasse Bjerg*, Jacob Becker*, and Bo B. Iversen* *Aarhus University, Department of Chemistry, CMC, Langelandsgade 140, 8000 Århus, Denmark The resent progress in powder diffraction provides data of quality...... obtained. The displacement parameters reported here are significantly lower than those previously reported, stressing the importance of an adequate description of the core density. The charge transfer from boron to nitrogen clearly affects the inner electron density, which is evident from theoretical...

  4. Youth, normality and belonging - How young people construct and understand youth, identity and normality in their local environments

    DEFF Research Database (Denmark)

    Frostholm, Peter Hornbæk; Gravesen, David Thore; Mikkelsen, Sidse Hølvig

    of social media such as My Stories on Snapchat. The idea of individualisation, which by many a sociologist is considered one of the late modernity’s most significant characteristics of the norm- and tradition free youth, appear to be a bit simplified in the light of this research, as the young informants...... construct meaning and a sense of belonging in a contingent late modern society? The classic distinction between the normal and the outsiders, by Howard Becker (Becker, 2013) is used in our analysis to initially shed a light on and ultimately come closer to an understanding of the young people...... the youth groupings is only a few kilometres, the symbolic distance should rather be measured in light years. Relevance for Nordic Educational Research: The understanding of young people’s take on youth, normality and sense of belonging, will shed light on important issues regarding socializing practices...

  5. New Records of some Filth Flies Species (Diptera: Milichiidae) in Southwest Saudi Arabia

    International Nuclear Information System (INIS)

    Dawah, H.A; Abdullah, M.A

    2007-01-01

    A Malaise trap was used during different time periods between 2002 and 2006, in the Asir province of Saudi Arabia at different localities. Nine known species of Milichiidae (some of them of medical importance) have been identified. These are: Desmometopa m-nigrum (Zetterstedt, 1848); D. varipalpis Malloch 1927; D. singaporensis Kertesz 1899; Leptometopa rufifrons Becker 1903; L. latipes (Meigen 1830); L. nilssoni Sabrosky, 1987; Milichia pubescens Becker 1907; Milichiella lacteipennis (Loew 1866); Enigmilichia dimorphica Deeming, 1981, from South-Western Saudi Arabia, the last seven species of the above are recorded for the first time. Biological information and distribution of these species are included. The fauna of Milichiidae found in this study is much more of Afrotropical than Palaearctic origin. (author)

  6. Reply to ''Comment on enhancement of forbidden nuclear beta decay by high-intensity radio-frequency fields''

    International Nuclear Information System (INIS)

    Reiss, H.R.

    1984-01-01

    The negative conclusion in the Comment of Becker, Schlicher, and Scully about electromagnetic enhancement of beta decay is shown to be faulty. They have found an algebraic oversight in my paper, but correction of that oversight yields results strongly resembling the original. Becker, Schlicher, and Scully fail to find this. They then conduct an analysis which is highly implicit and incomplete. In attempting to analyze their very complicated expressions they claim not to find significant electromagnetic effects. Yet they also lose completely the electron retardation term of conventional forbidden beta decay. When they attempt to explain the difference between their results and mine, they misconstrue the momentum-translation technique and end up in a logical contradiction. They attempt also to apply a ''no-go'' theorem applicable only to plane-wave particles to my theory, which is built around the use of bound-state nuclear wave functions. This makes the no-go theorem inapplicable

  7. Maintaining Genome Stability: The Role of Helicases and Deaminases

    Science.gov (United States)

    2008-07-01

    Errors in duplicating DNA can result in genomic instability, leading to various human diseases, such as cancer, immune system disorder, muscle dystrophy ...as cancer, immune system disorder, muscle dystrophy , and neurodegenerations. Thus, maintaining genomic integrity is vital to the normal growth of...31–38. Eberharter, A., R. Ferreira and P. Becker , 2005 Dynamic chro- matin: concerted nucleosome remodelling and acetylation. Biol. Chem. 386: 745

  8. Prostate Cancer Diagnostics and Prognostics Based on Interphase Spatial Genome Positioning

    Science.gov (United States)

    2016-03-01

    in lamin A/C and include Emery-Dreifuss muscular dystrophy (EDMD) and the premature aging disease Hutchison-Gilford progeria syndrome (HGPS) (Burke...P a g e Zhang Y, McCord RP, Ho YJ, Lajoie BR, Hildebrand DG, Simon AC, Becker MS, Alt FW, Dekker J (2012) Spatial organization of the mouse...diseases characterized by mutations in lamin A/C, and includes Emery-Dreifuss 483 muscular dystrophy and the premature aging disease Hutchinson-Gilford

  9. Development of Non-Hormonal Steroids for the Treatment of Duchenne Muscular Dystrophy

    Science.gov (United States)

    2013-02-01

    constructs envisioned in gene therapy, are also expressed in Becker muscular dystrophy (alleles of dystrophinopathy leading to milder disease). In other words...the Treatment of Duchenne Muscular Dystrophy PRINCIPAL INVESTIGATOR: Terence Partridge, PhD CONTRACTING ORGANIZATION: Children’s...Duchenne Muscular Dystrophy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-1-0754 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Terence Partridge

  10. Simplificación del proceso de lana cardada

    OpenAIRE

    Coll Tortosa, Liberto; Riva Juan, Ascensión; Adolphs, Georg; García Congosto, Mariano; Roig Munill, Francesc; Fresno Chamarro, José; Marcos Maldonado, Mª José; Cano Casas, Francesc

    1999-01-01

    Este trabajo es parte de un proyecto I+D perteneciente al programa europeo BriteEuram 4478. En el conjunto del proyecto participó el siguiente consorcio internacional. • Spinnbau Bremen (D), (constructor de maquinaria de hilatura). • Tuchfabric Becker (D), (empresa manufacturera). • HILFESA (E), (empresa manufacturera) • Institut für Textiltechnik de la RWTH Aachen (D), (centro universitario de investigación). • INTEXTER (E) que actuó de coordinador del proyecto, (centro unive...

  11. Crescimento de mudas de maracujazeiro-doce (Passiflora alata Curtis) associadas a fungos micorrízicos arbusculares (Glomeromycota)

    OpenAIRE

    Silva,Maryluce Albuquerque da; Cavalcante,Uided Maaze Tibúrcio; Silva,Fábio Sérgio Barbosa da; Soares,Sueli Aparecida Gomes; Maia,Leonor Costa

    2004-01-01

    Para determinar o efeito de fungos micorrízicos arbusculares sobre o crescimento de mudas de maracujazeiro-doce foi conduzido, em casa de vegetação, experimento com delineamento inteiramente casualizado usando cinco tratamentos de inoculação (200 esporos/planta de Acaulospora longula Spain & Schenck, Gigaspora albida Schenck & Smith, Glomus etunicatum Becker & Gerd., Scutellospora heterogama (Nicol. & Gerd.) Walker & Sanders e controle não inoculado), com sete repetições. ...

  12. A Combined EOF/Variational Approach for Mapping Radar-Derived Sea Surface Currents

    Science.gov (United States)

    2011-01-01

    gaps in the gridded SST images, which was successfully applied in Adriatic ( Alvera - Azcarate et al., 2005). Kondrashov and Chil (2006) developed...velocities. Similar to SST analysis (Beckers and Rixen, 2003: Alvera -Azcarate et al.. 2005), these modes are used to fill the gaps in HFR...and selection of the time interval for estimating the covariances becomes important. In the present study the sea surface velocity Alvera -Azcarate

  13. Face compression yield strength of the copper-Inconel composite specimen

    International Nuclear Information System (INIS)

    Horie, T.

    1987-05-01

    A new equation for the face compression yield strength of copper-Inconel composite material has been derived. Elastic-plastic finite element analyses were also made for composite specimens with various aspect ratios to examine the edge effect of the specimen. According to the results of both the new equation and the analyses, the face compression yield strength of the composite should be decreased by about 25% from the value obtained with Becker's equation

  14. A replication of "Education and catch-up in the Industrial Revolution" (American Economic Journal: Macroeconomics, 2011)

    OpenAIRE

    Edwards, Jeremy S. S.

    2017-01-01

    Although European economic history provides essentially no support for the view that education of the general population has a positive causal effect on economic growth, a recent paper by Becker, Hornung and Woessmann (Education and catch-up in the Industrial Revolution, 2011) claims that such education had a significant impact on Prussian industrialisation. The author shows that the instrumental variable they use to identify the causal effect of education is correlated with variables that in...

  15. A replication of "Education and catch-up in the industrial revolution" (American Economic Journal: Macroeconomics, 2011)

    OpenAIRE

    Edwards, Jeremy

    2018-01-01

    Although European economic history provides essentially no support for the view that education of the general population has a positive causal effect on economic growth, a recent paper by Becker, Hornung and Woessmann (Education and Catch-Up in the Industrial Revolution, 2011) claims that such education had a significant impact on Prussian industrialisation. The author shows that the instrumental variable BHW use to identify the causal effect of education is correlated with variables that inf...

  16. Calculation of the equilibrium distribution for a deleterious gene by the finite Fourier transform.

    Science.gov (United States)

    Lange, K

    1982-03-01

    In a population of constant size every deleterious gene eventually attains a stochastic equilibrium between mutation and selection. The individual probabilities of this equilibrium distribution can be computed by an application of the finite Fourier transform to an appropriate branching process formula. Specific numerical examples are discussed for the autosomal dominants, Huntington's chorea and chondrodystrophy, and for the X-linked recessive, Becker's muscular dystrophy.

  17. Mechanics of the Panama Canal slides

    Science.gov (United States)

    Becker, George F.

    1917-01-01

    Dr. Becker visited the Canal Zone in 1913 as a geologist of the United States Geological Survey and since that time has given the problem the benefit of his study. His appointment as a member of the committee of the National Academy of Sciences has made it appropriate for his conclusions, based upon his personal observations and already reported in part to the Canal Commission, to be stated for the benefit of his associates and other American scientists and engineers.

  18. South African Medical Journal - Vol 93, No 7 (2003)

    African Journals Online (AJOL)

    ... travel as a cause of thrombosis · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. B.F. Jacobson, M Münster, A Smith, K.G. Burnand, A Carter, A.T.O. Abdool-Carrim, E Marcos, P.J. Becker, T Rogers, D le Roux, J.L. Calvert-Evers, M.J. Nel, R Brackin, M Veller, 522-528 ...

  19. Importing equality? The effects of increased competition on the gender wage gap

    OpenAIRE

    Sandra E. Black; Elizabeth Brainerd

    1999-01-01

    It is now well documented that the gender wage gap declined substantially in the 1980s, despite rising overall wage inequality. While Blau and Kahn (JoLE 1997) attribute much of this improvement to gains in women's relative labor market experience and other observable characteristics, a substantial part of the decline in the gender wage gap remains unexplained, and may be due to reduced discrimination against women in the labor market. This paper tests the hypothesis (based on Becker 1957) th...

  20. Were Increased Closed Seclusions the Result of a Reinforcer-Abolishing Effect?

    OpenAIRE

    Poling, Alan

    2013-01-01

    In recent years, the motivating operation (MO) concept and the terms associated with it, including “reinforcer-abolishing effect” (Laraway, Snycerski, Michael, & Poling, 2003), have been widely used in the behavior-analytic literature (Laraway, Snycerski, Olson, Becker, & Poling, in press) and elsewhere (Lotfizadeh, Edwards, & Poling, 2013). MOs are changes in the environment that alter the reinforcing effectiveness of designated classes of stimuli, such as food or water.

  1. Were Increased Closed Seclusions the Result of a Reinforcer-Abolishing Effect?

    Science.gov (United States)

    Poling, Alan

    2013-01-01

    In recent years, the motivating operation (MO) concept and the terms associated with it, including "reinforcer-abolishing effect" (Laraway, Snycerski, Michael, & Poling, 2003), have been widely used in the behavior-analytic literature (Laraway, Snycerski, Olson, Becker, & Poling, in press) and elsewhere (Lotfizadeh, Edwards, & Poling, 2013). MOs are changes in the environment that alter the reinforcing effectiveness of designated classes of stimuli, such as food or water.

  2. A discussion of the kamlet-jacobs formula for the detonation pressure

    Energy Technology Data Exchange (ETDEWEB)

    Kazandjian, Luc; Danel, Jean-Francois [Commissariat a l' Energie Atomique, Centre CEA-DIF, B. P. 12, F-91680 Bruyeres-le-Chatel (France)

    2006-02-15

    The main features of the Kamlet-Jacobs formula for the detonation pressure of C-H-N-O explosives are analytically derived from a BKW (Becker-Kistiakowsky-Wilson) equation of state of the detonation products. In the derivation, well-known typical values at the Chapman-Jouguet state, in particular the nearly constant value of the relative volume of the detonation products, are used. (Abstract Copyright [2006], Wiley Periodicals, Inc.)

  3. Awarding a Prize

    DEFF Research Database (Denmark)

    Moeran, Brian

    2013-01-01

    This article describes and analyses the selection and prize awarding processes for a biennial ceramics exhibition in Japan. Based on long-term fieldwork in the “art world” (Becker 1982) of contemporary Japanese ceramics, as well as on participant observation of the processes concerned, the article...... addresses and draws upon two sets of sociological writings: one concerned with prizes and awards; the other with evaluative practices....

  4. ON WINGS OF EAGLES; SOUTH AFRICA'S MILITARY AVIATION HISTORY

    OpenAIRE

    Ian Van der Waag

    2012-01-01

    With this book, Major Dave Becker has addressed an important hiatus in the military aviation history of South Africa. On Wings of Eagles is the first all-inclusive history of the South African Air Force to be published since 1970, when the SAAF (mistakenly!) celebrated their golden jubilee. The 1970 publication, Per Aspera ad Astra, was nonetheless a useful brochure and embodied the first attempt to present the entire history of the SAAF within one cover. It was, however, too superficial and ...

  5. Sharp inequalities for tangent function with applications

    Directory of Open Access Journals (Sweden)

    Hui-Lin Lv

    2017-05-01

    Full Text Available Abstract In the article, we present new bounds for the function e t cot ( t − 1 $e^{t\\cot(t-1}$ on the interval ( 0 , π / 2 $(0, \\pi/2$ and find sharp estimations for the Sine integral and the Catalan constant based on a new monotonicity criterion for the quotient of power series, which refine the Redheffer and Becker-Stark type inequalities for tangent function.

  6. The Effect of Advanced Education on the Retention and Promotion of Army Officers

    Science.gov (United States)

    2007-03-01

    2 Ronal G.Ehrenberg, Robert S.Smith, Modern Labor Economics , Theory and Public Policy, (New York: Pearson Education, Inc, 2006...Ehrenberg and Robert S. Smith, Modern Labor Economics , 9th ed. (New York: Pearson Education, Inc, 2006). 30 G S Becker, Human Capital: A Theoretical...their jobs. As a 32 Ronald G. Ehrenberg and Robert S. Smith, Modern Labor Economics , 9th ed. (New

  7. Parenthood decisions and the transformation of the family structure

    OpenAIRE

    Gobbi, Paula Eugenia

    2013-01-01

    The study of demographic subjects among economists has flourished after the work of the Nobel Prize winner Gary Becker. This thesis contributes to this literature by looking at aspects of parenthood decisions that have already been studied by demographers and sociologists but much less by economists. The first two chapters study childlessness and its determinants. The last chapter studies how childcare is related to the education of parents. The first chapter is the first study in the ec...

  8. Photoabsorption cross sections of methane and ethane, 1380-1600 A, at T=295 K and T=200 K

    International Nuclear Information System (INIS)

    Mount, G.H.; Moos, H.W.

    1978-01-01

    Photoabsorption cross sections of methane and ethane gas have been determined from 1380-1600 A at room and dry-ice temperatures. A small decrease in cross section was measured near the molecular absorption edge for each gas. In addition, the photoabsorption cross sections of ethane at room temperature are found to be in agreement with the measurements of Okabe and Becker rather than more recently determined values

  9. Rich Dad, Smart Dad: Decomposing the Intergenerational Transmission of Income

    OpenAIRE

    Lefgren, Lars; Lindquist, Matthew; Sims, David

    2009-01-01

    We construct a simple model, consistent with Becker and Tomes (1979), that decomposes the intergenerational income elasticity into the causal effect of financial resources, the mechanistic transmission of human capital, and the role that human capital plays in the determination of father’s permanent income. We show how a particular set of instrumental variables could separately identify the money and human capital transmission effects. We further outline two instrumental variables methods for...

  10. Effect of labor division between wife and husband on the risk of divorce: evidence from German data

    OpenAIRE

    Kraft, Kornelius; Neimann, Stefanie

    2009-01-01

    Using German panel data from 1984 to 2007, we analyze the impact of labor division between husband and wife on the risk of divorce. Gary Becker's theory of marriage predicts that specialization in domestic and market work, respectively, reduces the risk of separation. Traditionally, the breadwinner role is assigned to the husband, however, female labor force participation and their wages have risen substantially. Our results suggest that there are gender-specific differences, e.g. female brea...

  11. The National Cryptologic Museum Library

    Science.gov (United States)

    2010-09-01

    telegrams. Modern communications and encryption methods have made them obsolete and mainly of historical interest. The library is also home to a...interpretations. Cross References The National Cryptologic Museum Library Eugene Becker Last year, a widely published German technical author, Klaus...Schmeh, e-mailed the library of the National Cryptologic Museum from his home in Gelsenkirchen, Germany. He needed information for an article on the

  12. Importing Equality? The Impact of Globalization on Gender Discrimination

    OpenAIRE

    Black, Sandra E.; Brainerd, Elizabeth

    2002-01-01

    While researchers have long held that discrimination cannot endure in an increasingly competitive environment, there has been little work testing this dynamic process. This paper tests the hypothesis (based on Becker 1957) that increased competition resulting from globalization in the 1980s forced employers to reduce costly discrimination against women. The empirical strategy exploits differences in market structure across industries to identify the impact of trade on the gender wage gap: bec...

  13. Microfoundations and the birth of a firm's identity: How entrepreneurs deal with routines to entrench their start-up in an ecosystem

    OpenAIRE

    Kokshagina , Olga; Hooge , Sophie; Canet , Emilie

    2016-01-01

    International audience; How to shape successful ventures; ensure that an entrepreneur’s journey will lead to create viable businesses over time? It is argued that organizations are built on habits and routines in place that are defined as dispositions to follow certain behavioral tendencies motivated by appropriate contexts and environments (Abell et al., 2007; Becker, 2012; Cohen, 2012; Nelson & Sidney, 1982). Prior work stressed that the individual identity, founders’ habits influence the e...

  14. COMMITMENT A Psychological Tie and Moral Value

    Science.gov (United States)

    2017-04-01

    Research When I think of commitment, it is a feeling and an action with a strong moral component. However, as I began researching commitment it became...characteristics of “being committed” must be independent of behavior. One mechanism of doing this is through the analysis of bargaining and side bets .27...Becker uses Schelling’s example of bargaining to buy a house to explain side bets . In this scenario, you offer $16,000, but the seller counters with

  15. The impact of packaging design on health product perceptions

    OpenAIRE

    Riley, Debra; Martins da Silva, Peter; Behr, Sabrina

    2015-01-01

    Packaging design has been studied in a variety of contexts but findings remain inconsistent, particularly on the impact of individual elements (e.g. Mitchell & Papvassiliou, 1999; Becker, Rompay, Schifferstein and Galetzka, 2011; Siloyoi & Speece, 2007). Although several studies have found visual cues (picture, typography, colour) to be the most impactful on consumer attention and attitude (e.g. Folkes & Matta, 2004; Silayoi & Speece, 2004), most studies have focused on other elements such as...

  16. Computer Code for Interpreting 13C NMR Relaxation Measurements with Specific Models of Molecular Motion: The Rigid Isotropic and Symmetric Top Rotor Models and the Flexible Symmetric Top Rotor Model

    Science.gov (United States)

    2017-01-01

    top rotor superimposes an effective correlation time, τe, onto a symmetric top rotor to account for internal motion. 2. THEORY The purpose...specifically describe how simple 13C relaxation theory is used to describe quantitatively simple molecular 3 motions. More-detailed accounts ...of nuclear magnetic relaxation can be found in a number of basic textbooks (i.e., Farrar and Becker, 1971; Fukushima and Roeder, 1981; Harris, 1986

  17. Environmental Assessment for Aviation Foreign Internal Defense Beddown (AvFID) at Duke Field, Eglin Air Force Base, Florida

    Science.gov (United States)

    2012-07-01

    stability, and topography. The term soil, in general, refers to unconsolidated materials overlying bedrock or other parent material. Soil structure...influence on human activities. 3.3.2 Existing Conditions 3.3.2.1 Duke Field and Eglin AFB Geology The area that encompasses Eglin AFB consists of...southwestern Okaloosa County (Becker et al. 1989). This impermeable confining bed, composed of clays and clayey sands with some limestone and shell fragments

  18. Human Capital - A Quality Factor For The Competitiveness Of IT Companies

    OpenAIRE

    Elisei Crăciun

    2015-01-01

    This paper treats quality, human capital and competitiveness concepts in order to determine in which measure the Human Capital quality influences the competitiveness of a firm. The human capital theory is a relatively new approach, the first valuable approach being that of Garry Becker which, subsequent of the modern management theoretical views, puts human capital into scientific frame. This present paper relates deeply on this theoretical frame as it is considered that, besides financial or...

  19. Rationally Addicted to Drinking and Smoking?

    OpenAIRE

    Bask, Mikael; Melkersson, Maria

    2001-01-01

    When modeling demand for addictive consumption goods, the most widely used framework is the rational addiction model proposed by Becker and Murphy (1988). In the present paper, we extend the rational addiction model to include two addictive consumption goods, alcohol and cigarettes. We estimate the aggregate demand for alcohol and cigarettes in Sweden, using aggregate annual time series on sales volumes for the period 1955-1999. OLS estimates are compared to GMM estimates allowing for possibl...

  20. The empire of economics El imperio de la economía

    Directory of Open Access Journals (Sweden)

    Ovejero Lucas Félix

    1997-12-01

    Full Text Available This article comments on the use of microeconomic instruments in fields that once were the exclusive preserve of the other social sciences, and its consequences for current theoretical activities. It looks particularly at the Theory of the Family by Becker, who has been accused of being the person most responsible for 'economic imperialism', that is, for applying the view of the calculating and selfish individual --homo economicus-- to the study of social processes that had usually been explained by means of history or institutions. In spite of strong criticisms of Becker, the author considers his work to be meritorious insofar as it contributes to showing, in a passive form, the excessive 'padding' that is hidden behind the trivialities or the darkness --which is not profundity but rather vacuity-- of certain social literature.En este artículo, se comenta el uso del instrumental microeconómico en campos que antes era corto exclusivo de las demás ciencias sociales y sus concecuencias para el quehacer teórico en la actualidad. Se detiene especialmente en la Teoría de la Familia Becker, quien ha sido acusado de ser el principal responsable del 'imperialismo económico', es decir, de aplicar la óptica del individuo calculador y egosita --homo economicus-- al estudio de procesos sociales que solían explicar mediante la historia o las instituciones. A pesar de sus fuertes críticas al trabajo de Becker, el autor considera que su trabajo es meritorio en tanto contribuye a mostrar, en forma pasiva, el exceso de 'paja' que se oculta detrás de las trivialidades o de la oscuridad --que no es profunda sino vacuidad-- de cierta literatura social.

  1. The People Paradox: Self-Esteem Striving, Immortality Ideologies, and Human Response to Climate Change

    OpenAIRE

    Janis L. Dickinson

    2009-01-01

    In 1973, Ernest Becker, a cultural anthropologist cross-trained in philosophy, sociology, and psychiatry, invoked consciousness of self and the inevitability of death as the primary sources of human anxiety and repression. He proposed that the psychological basis of cooperation, competition, and emotional and mental health is a tendency to hold tightly to anxiety-buffering cultural world views or "immortality projects" that serve as the basis for self-esteem and meaning. Although he focused m...

  2. Affect Labeling: A Promising New Approach for Mitigating PTSD

    Science.gov (United States)

    2016-02-12

    effects and contraindications (Becker et al., 2004). Barriers associated with pharmacological treatments are equal if not greater and include resistance...0056 20 MRI scanning. (2) Ps must not have been claustrophobic in order to be able to complete all fMRI procedures. (3) Ps must not have been...aversive combat stimuli. Image Acquisition. Imaging data were acquired via a Siemens Tim Trio 3 tesla MRI scanner at the UCLA Staglin Center for

  3. Emerging strategies for cell and gene therapy of the muscular dystrophies

    OpenAIRE

    Muir, Lindsey A.; Chamberlain, Jeffrey S.

    2009-01-01

    The muscular dystrophies are a heterogeneous group of over 40 disorders that are characterised by muscle weakness and wasting. The most common are Duchenne muscular dystrophy and Becker muscular dystrophy, which result from mutations within the gene encoding dystrophin; myotonic dystrophy type 1, which results from an expanded trinucleotide repeat in the myotonic dystrophy protein kinase gene; and facioscapulohumeral dystrophy, which is associated with contractions in the subtelomeric region ...

  4. Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine.

    OpenAIRE

    Bernasconi, P; Torchiana, E; Confalonieri, P; Brugnoni, R; Barresi, R; Mora, M; Cornelio, F; Morandi, L; Mantegazza, R

    1995-01-01

    Duchenne muscular dystrophy is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle contractures in later disease stages. Muscle biopsy reveals conspicuous myofiber degeneration and fibrosis substituting muscle tissue. We quantitatively determined mRNA of the potent fibrogenic cytokine transforming growth factor-beta 1 by quantitative PCR in 15 Duchenne muscular dystrophy, 13 Becker muscular dystrophy, 11 spinal muscular atrophy patients, and 16 controls...

  5. Monitoring Tidal Currents with a Towed ADCP System

    Science.gov (United States)

    2015-12-22

    dynamical properties of the upper ocean. Geophys Res Abstr 16. EGU2014- 13078, EGU General Assembly Barth A, Alvera-Azcárate A, Beckers J-M, Weisberg...energy conversion in a future energy generation mix is under evaluation in different countries (e.g., Weisberg et al. 2012; Quirapas et al. 2015). In...vehicle. It is well established now that, at pilot sites, the power generating potential of the tidal stream is characterized by significant

  6. Reduced Iron Sulfide Systems for Removal of Heavy Metal Ions from Groundwater

    Science.gov (United States)

    2009-07-01

    Renock (and his Ph.D. advisers Drs. Udo Becker and Rodney Ewing); and undergraduate students Kate Baldwin, Alicia Lane, and Anthony Martus. We...typically require more extensive acid treatments (Huerta- Diaz and Morse, 1990; Rueda et al., 1992; Cooper and Morse, 1998; van Oorschot and Dekkers...reaction of As(III) with synthetic mackinawite under anoxic conditions. Environ. Sci. Technol.. 42, 9338-9343. Huerta- Diaz , M. A. Morse, J. W., 1990

  7. A world revision of the bee fly tribe Usiini (Diptera, Bombyliidae) Part 2: Usia sensu stricto.

    Science.gov (United States)

    Gibbs, David

    2014-05-22

    This is the second part of a world revision of the genera Usia Latreille and Parageron Paramonov, of the tribe Usiini Becker, and covers the pale-haired species, the Usia sensu stricto group. Usia sensu stricto as defined here contains 24 species of which 16 species fall into two monophyletic groups, the U. lata group with 10 species and the U. florea group with six species. Eight species cannot be placed in either of these two groups, four of them form two pairs of sibling species while the remaining four species have no clear affinities. Of the 25 formerly available names that belong in Usia sensu stricto, U. putilla Becker stat. rev., previously synonymised under U. angustifrons, is reinstated as a full species. U. sicula Egger syn. nov., is synonymised under U. manca Loew, U. anus Becker syn. nov., is synonymised under U. vestita Macquart and U. claripennis Macquart syn. nov., is synonymised under U. atrata (Fabricius). Usia vicina Macquart, formerly placed as a synonym of U. atrata, is shown to be a junior synonym of U. aenea Rossi. Five new species are described, U. anatoliensis sp. nov., U. annetteae sp. nov., U. greatheadi sp. nov., U. maghrebensis sp. nov. and U. cornigera sp. nov. Both the male and female genitalia are illustrated in detail for 21 species, female only in the cases of U. calva Loew and U. notata Loew and male only for U. incognita Paramonov.

  8. Behavioral Indicators on a Mobile Sensing Platform Predict Clinically Validated Psychiatric Symptoms of Mood and Anxiety Disorders.

    Science.gov (United States)

    Place, Skyler; Blanch-Hartigan, Danielle; Rubin, Channah; Gorrostieta, Cristina; Mead, Caroline; Kane, John; Marx, Brian P; Feast, Joshua; Deckersbach, Thilo; Pentland, Alex Sandy; Nierenberg, Andrew; Azarbayejani, Ali

    2017-03-16

    , Caroline Mead, John Kane, Brian P Marx, Joshua Feast, Thilo Deckersbach, Alex “Sandy” Pentland, Andrew Nierenberg, Ali Azarbayejani. Originally published in the Journal of Medical Internet Research (http://www.jmir.org), 16.03.2017.

  9. Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.

    Directory of Open Access Journals (Sweden)

    Zhi Yon Charles Toh

    Full Text Available Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame. However, there are striking exceptions where an in-frame genomic deletion leads to severe pathology or protein-truncating mutations (nonsense or frame-shifting indels manifest as mild disease. Exceptions to the dystrophin reading frame rule are usually resolved after molecular diagnosis on muscle RNA. We report a moderate/severe Becker muscular dystrophy patient with an in-frame genomic deletion of DMD exon 5. This mutation has been reported by others as resulting in Duchenne or Intermediate muscular dystrophy, and the loss of this in-frame exon in one patient led to multiple splicing events, including omission of exon 6, that disrupts the open reading frame and is consistent with a severe phenotype. The patient described has a deletion of dystrophin exon 5 that does not compromise recognition of exon 6, and although the deletion does not disrupt the reading frame, his clinical presentation is more severe than would be expected for classical Becker muscular dystrophy. We suggest that the dystrophin isoform lacking the actin-binding sequence encoded by exon 5 is compromised, reflected by the phenotype resulting from induction of this dystrophin isoform in mouse muscle in vivo. Hence, exon skipping to address DMD-causing mutations within DMD exon 5 may not yield an isoform that confers marked clinical benefit. Additional studies will be required to determine whether multi-exon skipping strategies could yield more functional dystrophin isoforms, since some BMD patients with larger in-frame deletions in this region have been reported with mild phenotypes.

  10. A few words about Gilberto Velho (1945-2012

    Directory of Open Access Journals (Sweden)

    Howard S. Becker

    2012-07-01

    Full Text Available O sociólogo americano Howard S. Becker, ao saber da morte, em todos os sentidos prematura, aos 66 anos, do antropólogo brasileiro Gilberto Velho, em 14 de abril de 2012, se disse emocionado e enviou à revista – de cujo Conselho Editorial ele é integrante e no qual Velho permanecerá in memorian – um pequeno texto, pararelembrar sua longa história com o colega que conheceu quando este foi fazer parte de seus estudos nos EUA e que ajudou a trazer sua obra para o Brasil. Preferimos manter as palavras de Becker no original, para preservar o caráter de emergência da homenagem ao velho amigo, dele e de todos na revista. Velho morreu em sua casa, enquanto dormia, em decorrência de problemas cardíacos. Gilberto Cardoso Alves Velho nasceu em 15 de maio de 1945, no Rio de Janeiro. Estudou ciências sociais no IFCS/UFRJ, graduando-se em 1968, e fez mestrado em uma das primeiras turmas do Museu Nacional (MN, também na UFRJ, concluído em 1970, produzindo uma dissertação que se tornaria seu livro mais conhecido, A utopia urbana. Aos EUA, foi logodepois, para uma especialização em antropologia das sociedades complexas, na University of Texas de Austin. Sua tese de doutorado foi defendida na universidade de São Paulo (USP em 1975. Tornou-se professor efetivo do MN em 1979, embora ministrasse cursos na casa desde 1963. Ao longo de toda a carreira, produziu váriostrabalhos importantes, ocupou vários cargos de destaque e ajudou a formar várias gerações de pesquisadores.Por meio de Becker, Dilemas presta aqui sua homenagem ao colega.

  11. The pornographic anatomy book? The curious tale of the Anatomical Basis of Medical Practice.

    Science.gov (United States)

    Halperin, Edward C

    2009-02-01

    Studying the history of medical education helps teach us that medicine is a social activity that occurs in the context of social mores and customs. In 1971, a major new anatomy textbook aimed at first-year medical students was published. The Anatomical Basis of Medical Practice, written by Professors R. Frederick Becker, James S. W. Wilson, and John A. Gehweiler, emphasized surface anatomy, embryology, and radiographic anatomy. At multiple places in the text, the authors used sexually suggestive and "cheeky" comments about women. A small fraction of the illustrations were stylized, posed female nude photographs purchased from California photographer Peter Gowland. These photographs, of a type typically seen in Playboy centerfolds or "pin-up girl" calendars, produced a firestorm of controversy. The book was criticized in the press and in reviews in scholarly journals, and a boycott was organized by the Association of Women in Science. The publisher received negative feedback from consumers, and the book was withdrawn from the market. The book is now a minor collector's item. Professors Becker and Wilson vigorously responded. They laid blame for the debacle on the publisher and also claimed they were the victims of a witch hunt by feminists. The Anatomical Basis of Medical Practice appeared as the women's movement became part of the American popular consciousness. It was also an era in which the public began to grapple with how to define pornography. Professor Becker and his coauthors thought that they were writing a witty, engaging, and funny book. Their detractors thought the book denigrated women.

  12. Multiple vacancy production by high energy heavy ions

    International Nuclear Information System (INIS)

    Becker, R.L.; Ford, A.L.; Reading, J.F.

    1984-01-01

    The theory of atomic collisions has two ingredients: collision theory and atomic structure theory. The collision theories differ with respect to (A) the collision dynamics and (B) the treatment of the relative motion of the projectile and target nuclei. With regard to the dynamics multiple vacancy production is of fundamental interest because it is a signature for and probe of strong interactions between the projectile and the target electrons. For projectiles of large nuclear charge, Z/sub p/, especially for those which are highly stripped so as to have a large ionic charge, q, the interaction becomes strong enough to give a high probability of multiple vacancy production and a breakdown of perturbation theory. The familiar first and second Born approximations and their off-shoots cease to be adequate. Not even the recent strong-potential Born approximation (see Taulbjerg 1984) is sufficient, because the weaker of the potentials generated by the projectile and the target nuclei, respectively, is treated in first order. One needs a unitary, non-perturbative collision theory. At present this is generally available for multiple vacancy production only in the form of the highly numerical coupled channels theory (Becker et al. 1983, 1984b). For special problems analytically tractable models have been devised. For example, a simple, unitary, geometrical encounter probability model for the calculation of p/sub L/(0), the inclusive L-shell vacancy probability per electron in collisions with impact parameter B = 0, has been introduced by Sulik et al. (1984) and further developed by Sulik and Hock (1984). Along with earlier coupled-channels calculations (Becker et al. 1984ab) and first Magnus calculations (Becker et al. 1984b), this model is able to describe the saturation of p/sub L/(0) with Z/sub p/ at fixed impact speed, v, whereas all the first-order theories predict p/sub L/ proportional to Z/sub p/ 2 , which eventually exceeds unity

  13. The People Paradox: Self-Esteem Striving, Immortality Ideologies, and Human Response to Climate Change

    Directory of Open Access Journals (Sweden)

    Janis L. Dickinson

    2009-06-01

    Full Text Available In 1973, Ernest Becker, a cultural anthropologist cross-trained in philosophy, sociology, and psychiatry, invoked consciousness of self and the inevitability of death as the primary sources of human anxiety and repression. He proposed that the psychological basis of cooperation, competition, and emotional and mental health is a tendency to hold tightly to anxiety-buffering cultural world views or "immortality projects" that serve as the basis for self-esteem and meaning. Although he focused mainly on social and political outcomes like war, torture, and genocide, he was increasingly aware that materialism, denial of nature, and immortality-striving efforts to control, rather than sanctify, the natural world were problems whose severity was increasing. In this paper I review Becker's ideas and suggest ways in which they illuminate human response to global climate change. Because immortality projects range from belief in technology and materialism to reverence for nature or belief in a celestial god, they act both as barriers to and facilitators of sustainable practices. I propose that Becker's cross-disciplinary "science of man," and the predictions it generates for proximate-level determinants of social behavior, add significantly to our understanding of and potential for managing the people paradox, i.e., that the very things that bring us symbolic immortality often conflict with our prospects for survival. Analysis of immortality projects as one of the proximate barriers to addressing climate change is both cautionary and hopeful, providing insights that should be included in the cross-disciplinary quest to uncover new pathways toward rational, social change.

  14. Enrichment situation outside the United States

    International Nuclear Information System (INIS)

    Anon.

    1979-01-01

    Different enrichment technologies are briefly characterized which include gaseous diffusion, which is presently the production mainstay of the United States and France; the gaseous centrifuge which is the production plant for Urenco and the technology for future United States enrichment expansion; the aero-dynamic processes which include the jet nozzle (also known as the Becker process) and the fixed-wall centrifuge (also known as the Helikon process); chemical processes; laser isotope separation processes (also referred to in the literature as LIS); and plasma technology

  15. Diagnostics of neuromuscular diseases with the aid of computerized tomography

    Energy Technology Data Exchange (ETDEWEB)

    Visser, M de; Verbeeten, Jr, B J

    1988-06-04

    In this article the diagnosis of neuromuscular diseases with the aid of computerized tomography is treated. Computerized tomography of skeletal muscles give no information which is pathognomonic for particular diseases. But the technique can be used in the following aspects: to choose a muscle for a biopsy; when it is not possible to examine the function of a muscle, a CT scan can visualize morphological deviations; in the differentiation of muscle hypertrophy and pseudo-hypertrophy. For some cases as Becker-type muscular dystrophy, facioscapulohumeral dystrophy and Kugelberg-Welander type spinal muscular atrophy computerized tomography gives characteristic images. 10 refs.; 6 figs.

  16. Diagnostics of neuromuscular diseases with the aid of computerized tomography

    International Nuclear Information System (INIS)

    Visser, M. de; Verbeeten, B.J. Jr.

    1988-01-01

    In this article the diagnosis of neuromuscular diseases with the aid of computerized tomography is treated. Computerized tomography of skeletal muscles give no information which is pathognomonic for particular diseases. But the technique can be used in the following aspects: to choose a muscle for a biopsy; when it is not possible to examine the function of a muscle, a CT scan can visualize morphological deviations; in the differentiation of muscle hypertrophy and pseudo-hypertrophy. For some cases as Becker-type muscular dystrophy, facioscapulohumeral dystrophy and Kugelberg-Welander type spinal muscular atrophy computerized tomography gives characteristic images. 10 refs.; 6 figs

  17. Sensitivity and Frequencies of Dystrophin Gene Mutations in Thai DMD/BMD Patients As Detected by Multiplex PCR

    Directory of Open Access Journals (Sweden)

    Thanyachai Sura

    2008-01-01

    Full Text Available Background: Duchenne muscular dystrophy (DMD, a lethal X-linked disease affecting 1 in 3500 male births, and its more benign variant, Becker muscular dystrophy (BMD, are caused by mutations in the dystrophin gene. Because of its large size, analysing the whole gene is impractical. Methods have been developed to detect the commonest mutations i.e. the deletions of the exons. Although these tests are highly specific, their sensitivity is inherently limited by the prevalence of deletions, which differs among different populations.

  18. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD for monogenic disorder

    Directory of Open Access Journals (Sweden)

    Abdelkrim Hmadcha

    2016-05-01

    Full Text Available From 106 human blastocyts donate for research after in vitro fertilization (IVF and preimplantation genetic diagnosis (PGD for monogenetic disorder, 3 human embryonic stem cells (hESCs HVR1, HVR2 and HVR3 were successfully derived. HVR1 was assumed to be genetically normal, HVR2 carrying Becker muscular dystrophy and HVR3 Hemophilia B. Despite the translocation t(9;15(q34.3;q14 detected in HVR2, all the 3 cell lines were characterised in vitro and in vivo as normal hESCs lines and were registered in the Spanish Stem Cell Bank.

  19. Molecular Signatures of Chronic Pain Subtypes

    Science.gov (United States)

    2015-03-01

    inflammatory cytokines in human articular chondrocytes. Arthritis Rheum 2009;60(11):3303–13. 100 Su RC, Becker AB, Kozyrskyj AL, Hayglass KT. Epi...Korzets A. Reflex sympathetic dystrophy of the stump in below-knee amputees. Clin J Pain 1992;8(3):270–5. 31. Sherman RA, Sherman CJ, Parker L. Chronic...sympathetic dystrophy of the stump in below-knee amputees. The Clinical journal of pain. Sep 1992;8(3):270-275. 4. Lindsay DR, Pyati S, Buchheit TE

  20. Advanced Processing for Biomedical Informatics (APBI)

    Science.gov (United States)

    2009-10-01

    pothetical gene CG018 CG018 90634 1.62E-06 4.16E-05 7.21 4.81 -5.3 203881_s_at dystrophin (muscular dystrophy , Duchenne and Becker types) DMD 1756 1.93E-06...fundus dystrophy , pseudoinflammatory) TIMP3 7078 1.62E-06 4.16E-05 10.96 8.63 -5.0 1563466_at myosin, light chain kinase MYLK 4638 1.62E-06 4.16E-05

  1. 2017 NMC Technology Outlook for Nordic Schools A Horizon Project Regional Report

    DEFF Research Database (Denmark)

    2017-01-01

    research effort between the New Media Consortium (NMC) and the Norwegian Centre for ICT in Education to inform Nordic school leaders and decision-makers about significant developments in technologies supporting teaching, learning, and creative inquiry in primary and secondary education across Denmark......Adams Becker, S., Cummins, M., Freeman, A., and Rose, K. (2017). 2017 NMC Technology Outlook for Nordic Schools: A Horizon Project Regional Report. Austin, Texas: The New Media Consortium. The 2017 NMC Technology Outlook for Nordic Schools: A Horizon Project Regional Report reflects a collaborative...

  2. Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos Numeric alterations in the dys gene and their association with clinical features

    OpenAIRE

    Alejandra Mampel; María Inés Echeverría; Ana Lía Vargas; María Roque

    2011-01-01

    La distrofia muscular de Duchenne/Becker (DMD/B) es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70%) de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el est...

  3. A Long-Term Comparison of GPS Carrierphase Frequency Transfer and Two-Way Satellite Time/Frequency Transfer

    Science.gov (United States)

    2007-01-01

    14 1.E-13 1.E+03 1.E+04 1.E+05 1.E+06 1.E+07 AVERAGING TIME τ (s) O V E R LA P P IN G σ y ( τ )/T H E O _B R (F R A C F R E Q ) METAS-NIST NPL-NIST... Metrologia , 42, 411-422. [2] C. Hackman, J. Levine, T. E. Parker, D. Piester and J. Becker, 2006, “A Straightforward Frequency- Estimation Technique for... Metrologia , 43, 109-120. [6] http://igscb.jpl.nasa.gov [7] G. Blewitt, 1989, “Carrier-Phase Ambiguity Resolution for the Global Positioning System Applied

  4. Neutron time-of-flight techniques for investigation of the extinction effect

    International Nuclear Information System (INIS)

    Niimura, N.; Tomiyoshi, S.; Takahashi, J.; Harada, J.

    1975-01-01

    An application of the time-of-flight neutron diffraction technique to an investigation of the nature of the extinction effect in a single-crystal specimen is given. It is shown that the wavelength dependence of the extinction can be easily obtained by changing the scattering angle. An estimation of the extinction factor for a CuCl single crystal is given as an example and a comparison of the results with recent extinction theory [Becker and Coppens. Acta Cryst.(1974). A30, 129-147; 148-153] is made. (Auth.)

  5. Growth of seedlings of sweet-passion fruit (Passiflora alata Curtis) associated to arbuscular mycorrhizal fungi (Glomeromycota)

    OpenAIRE

    Silva, Maryluce Albuquerque da; Cavalcante, Uided Maaze Tibúrcio; Silva, Fábio Sérgio Barbosa da; Soares, Sueli Aparecida Gomes; Maia, Leonor Costa

    2004-01-01

    Para determinar o efeito de fungos micorrízicos arbusculares sobre o crescimento de mudas de maracujazeiro-doce foi conduzido, em casa de vegetação, experimento com delineamento inteiramente casualizado usando cinco tratamentos de inoculação (200 esporos/planta de Acaulospora longula Spain & Schenck, Gigaspora albida Schenck & Smith, Glomus etunicatum Becker & Gerd., Scutellospora heterogama (Nicol. & Gerd.) Walker & Sanders e controle não inoculado), com sete repetições. A cada 20 dias foram...

  6. Services in wireless sensor networks modelling and optimisation for the efficient discovery of services

    CERN Document Server

    Becker, Markus

    2014-01-01

    In recent years, originally static and single purpose Wireless Sensor Networks have moved towards applications that need support for mobility and multiple purposes. These heterogeneous applications and services demand for a framework which distributes and discovers the various services, so that other pieces of equipment can use them. Markus Becker studies, extends, analytically models, simulates and employs the so called Trickle algorithm in measurements in a Wireless Sensor Network test bed for the service distribution. The obtained results apply to the application of the Trickle algorithm at

  7. Análise discursiva da relação entre atividade turística, apropriação do território e patrimônio: contribuições para o planejamento sustentável do turismo na Bahia-Brasil

    Directory of Open Access Journals (Sweden)

    Natanael Reis Bomfim

    2009-01-01

    ownership of the territory by the tourist activity and its impacts on culture and the environment, calling attention to the need for sustainable planning in the Bahia-Brazil. To this end, we shall analyze the speech of several authors who deal with interdisciplinary way, the theme of Planning sustainable tourism and its relationship with the regional development (Bomfim, 2008, 2006; Coriolano, 2005; Days, 2003 Becker, 2002 Yazigi, 2002, 2003, Carlos, 2002; Petrocchi, 2001; Santos, 1994, 1997; Soja, 1993; Chadefaud, 1987; Thus, this proposal highlights the need to enhance communities placed outside the economic system.

  8. Bibliographie

    OpenAIRE

    2015-01-01

    Ariès P., (1960), L’Enfant et la vie familiale sous l’Ancien Régime, Paris, Plon. Ballion R., (1982), Les consommateurs d’école (stratégies éducatives des familles), Paris, Stock/Laurence Pernoud. Barral P., (1968), Les agrariens français de Méline à Pisani, Paris, Armand Colin. Bastide R., (1971), Anthropologie appliquée, Paris, Payot. Baugnet L., (1998), L’identité sociale, Paris, Dunod. Becker H. S., (1985), Outsiders (Études de sociologie de la déviance), Paris, Métailié, (trad. de 1963, ...

  9. Toward Development of a Field-Deployable Imaging Device for TBI

    Science.gov (United States)

    2015-06-01

    5] J.M. Seelig, D.P. Becker, J.D. Miller, R.P. Greenberg, J.D. Ward, S.C. Choi, Traumatic acute subdural hematoma : major mortality reduction in...the field. This results in a delay in quantifi- cation of the type and extent of TBI – epidural, subdural , versus intra-parenchymal bleeds; diffuse...example, surgical evacuation of epidural and subdural bleeds within hours of TBI immediately reduces the chance of exposure of brain to blood products

  10. Advanced Electronic Technology.

    Science.gov (United States)

    1980-05-15

    for simultaneous predeposition of the resistor dopant. More suitable doping levels may be achieved concurrent with the phosphorous collector sinker...I-WC5-4 504Q Wideband LiNbO 3 Elastic Con- R. A. Becker 1979 Ultrasonics Sypoiun volver with Parabolic Horns D. H. Hurlburt Proceedings (IEEE, New...of T. C. Harman 2nd BACG Mtg. on "The Hg1 _ x Cd x Te Crystal Growth & Character- isation of 1I-VI Compounds ," University of Lancaster, England, 14-16

  11. Empatía y distorsiones cognitivas en personas no reclusas y en condenados por delitos sexuales y delitos violentos en Boyacá

    OpenAIRE

    Cepeda Rodríguez, Zulma Yadira

    2012-01-01

    El fin de esta investigación consistió en explorar, describir y comparar las variables empatía y distorsiones cognitivas en tres grupos: agresores sexuales de menores de edad, delincuentes violentos no sexuales y personas sin historia de reclusión en establecimientos carcelarios por medio de una investigación transeccional de tipo descriptivo-comparativo. Para evaluar las variables de estudio se tradujo y adaptó al castellano tanto la Escala de Cognición de Becker y cols (1989), como la Medid...

  12. The Long-Run Impact on Population and Income of Open Access to Land in a Model with Parental Altruism

    OpenAIRE

    Jon D. Harford

    2000-01-01

    Steady state levels of population and per capita income are examined using a Becker-Barro (1988) style of model of an economy with identical altruistic parents bearing costly children who receive bequests of capital and land. Inspired by the work of North (1981) and others, the problem of open access land with ancillary negative effects on private (but not public) productivity of capital is examined. It is seen that open access to land can lead to overpopulation in a ceteris paribus sense, an...

  13. Human muscle proteins: analysis by two-dimensional electrophoresis

    Energy Technology Data Exchange (ETDEWEB)

    Giometti, C.S.; Danon, M.J.; Anderson, N.G.

    1983-09-01

    Proteins from single frozen sections of human muscle were separated by two-dimensional gel electrophoresis and detected by fluorography or Coomassie Blue staining. The major proteins were identical in different normal muscles obtained from either sex at different ages, and in Duchenne and myotonic dystrophy samples. Congenital myopathy denervation atrophy, polymyositis, and Becker's muscular dystrophy samples, however, showed abnormal myosin light chain compositions, some with a decrease of fast-fiber myosin light chains and others with a decrease of slow-fiber light chains. These protein alterations did not correlate with any specific disease, and may be cause by generalized muscle-fiber damage.

  14. Optimal taxation of married couples with household production

    DEFF Research Database (Denmark)

    Kreiner, Claus Thustrup; Kleven, Henrik Jacobsen

    2007-01-01

    of commodity taxes, efficient taxation requires joint taxation of the family. In the presence of restricted commodity taxation, the income tax should compensate for the erroneous commodity taxes. In this case, individual taxation is typically optimal, but not necessarily with a higher rate on primary earners......The literature suggests that the concern for economic efficiency calls for individual-based taxation of married couples with a higher rate on the primary earner. This paper reconsiders the choice of tax unit in the Becker model of household production. In the absence of restrictions on the use...

  15. Secretome discovery reveals lignocellulose degradation capacity of the ectomycorrhizal fungus Paxillus involutus

    DEFF Research Database (Denmark)

    Roth, Doris; Rineau, Francois; Olsen, Peter B.

    2011-01-01

    To improve our understanding of the role ectomycorrhizal fungi play in biomass conversion, we studied the transcriptome of P. involutus grown on glass beads in extract of soil organic matter. The mycelium was used for a cDNA library screened by Transposon-Assisted Signal Trapping (TAST*) for gene...... the brown rot fungi systems. In addition, GH61 apparently acts as accessory protein both in enzymatic and in radical-based cellulolysis. * Becker et al., J. Microbial Methods, 2004, 57(1), 123-33....

  16. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder

    OpenAIRE

    Abdelkrim Hmadcha; Yolanda Aguilera; Maria Dolores Lozano-Arana; Nuria Mellado; Javier Sánchez; Cristina Moya; Luis Sánchez-Palazón; Jose Palacios; Guillermo Antiñolo; Bernat Soria

    2016-01-01

    From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for monogenetic disorder, 3 human embryonic stem cells (hESCs) HVR1, HVR2 and HVR3 were successfully derived. HVR1 was assumed to be genetically normal, HVR2 carrying Becker muscular dystrophy and HVR3 Hemophilia B. Despite the translocation t(9;15)(q34.3;q14) detected in HVR2, all the 3 cell lines were characterised in vitro and in vivo as normal hESCs lines and were r...

  17. The social context for surrogates' motivations and satisfaction.

    Science.gov (United States)

    Berend, Zsuzsa

    2014-10-01

    This Commentary takes up two of the main findings by Imrie and Jadva's study, namely surrogates' satisfaction with the post-surrogacy contact with intended parents and their motivation for surrogacy. It argues that the findings are in keeping with other qualitative research on surrogacy and that this similarity is not the result of the similarity of surrogates' psychological makeup. The Commentary highlights the centrality of social meanings and definitions, and following Howard Becker, insists on taking into account the collective doings that inform and shape individual feelings and behaviour. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  18. Learning curves for mutual information maximization

    International Nuclear Information System (INIS)

    Urbanczik, R.

    2003-01-01

    An unsupervised learning procedure based on maximizing the mutual information between the outputs of two networks receiving different but statistically dependent inputs is analyzed [S. Becker and G. Hinton, Nature (London) 355, 161 (1992)]. For a generic data model, I show that in the large sample limit the structure in the data is recognized by mutual information maximization. For a more restricted model, where the networks are similar to perceptrons, I calculate the learning curves for zero-temperature Gibbs learning. These show that convergence can be rather slow, and a way of regularizing the procedure is considered

  19. Analysis of fast neutrons elastic moderator through exact solutions involving synthetic-kernels

    International Nuclear Information System (INIS)

    Moura Neto, C.; Chung, F.L.; Amorim, E.S.

    1979-07-01

    The computation difficulties in the transport equation solution applied to fast reactors can be reduced by the development of approximate models, assuming that the continuous moderation holds. Two approximations were studied. The first one was based on an expansion in Taylor's series (Fermi, Wigner, Greuling and Goertzel models), and the second involving the utilization of synthetic Kernels (Walti, Turinsky, Becker and Malaviya models). The flux obtained by the exact method is compared with the fluxes from the different models based on synthetic Kernels. It can be verified that the present study is realistic for energies smaller than the threshold for inelastic scattering, as well as in the resonance region. (Author) [pt

  20. E RENDIMENTOS DO TRABALHO NO BRASIL: DESAFIOS DE UM CENÂRIO DE TRANSFORMAÇOES

    OpenAIRE

    Saldanha Pereira,Rosangela; Zavala Zavala,Arturo

    2012-01-01

    Este artículo aborda las principales contribuciones teóricas de Schultz, Becker y Mincer referentes a los efectos de la educación en los salarios y la discriminación y segmentación en el mercado del trabajo brasileño, en el período comprendido entre 1990 y 2009. Para cuantificar el retorno de la educación utilizamos la ecuación de Mincer adaptada para captar factores de la discriminación y segmentación. El método utilizado es el de Mínimos Cuadrados Ordinarios (MQO). Las estimacionesse hicier...

  1. News Letter: European Geophysical Society

    Science.gov (United States)

    1998-03-01

    gradient obser- vations to the determination of separation between geoid and quasigeoid on Poland territory (Poster) 15:59 FERRARO, L.; MARJANOVIC , M... MARJANOVIC , M.; MERVART, L.; BECKER, M.; RUS, T.; PANY, T.; STANGL, G; KENYERES, A.; HEFTY, J.; ROGOWSKI, J.B., FIGURSKI, M. Final results of CEGRN...248 MALLET, I. 180 MARIUCCI, M.T. 64 MALMBERG, S.AA. 165 MARIVOET, J. 141 MALONE, S. 82 MARJANOVIC , M. 137 MALOVA, H.V. 216 MARKIEWICZ, W.J. 249-251

  2. Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran

    OpenAIRE

    BARZEGAR, Mohammad; HABIBI, Parinaz; BONYADY, Mortaza; TOPCHIZADEH, Vahideh; SHIVA, Shadi

    2015-01-01

    How to Cite This Article: Barzegar M, Habibi P, Bonyady M, Topchizadeh V, Shiva Sh. Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran. Iran J Child Neurol. 2015 Winter; 9(1): 42-48.AbstractObjectiveDuchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different popula...

  3. Elucidating antimalarial drug targets/mode-of-action by application of system biology technologies

    CSIR Research Space (South Africa)

    Becker, J

    2008-11-01

    Full Text Available targets/mode-of-action by application of systems biology technologies J BECKER, L MTWISHA, B CRAMPTON AND D MANCAMA CSIR Biosciences, PO Box 395, Pretoria, 0001, South Africa Email: JBecker@csir.co.za – www.csir.co.za INTRODUCTION Malaria is one... The objective of this study was to use systems biology tools to unravel the drug target/mode-of-action (MoA) of an antimalarial drug (cyclohexylamine) with a known drug target/MoA, by analysing differential expression profiles of drug treated vs untreated...

  4. The Military Family: A Selective Bibliography.

    Science.gov (United States)

    1981-09-01

    1975 K8 iittle. Roger W ., ed. Handbook of Military Instituit ions. Beve rly 1iII s , CA: Sage, 1971. 607 1. UA 10 .1123 l.ittle, Roger W., ed. A...Program Management ." Commanh r.; Digest 18: entire issue, September 11, 1975 "CHAMPUS Complexitis Explained by ROA Sui-gt.n." CO),. Ialrrv G. Becker...lluaiv 1973 ’Missing Pilots’ Chi ldren Rece iv,, VA Schl Aid." Air Iorce ’lit:; l’ 1I, 1971 ’Mission: Financial Planning." (apt. Lvle R. Me tzlor and 2d

  5. Stereo Vision Inside Tire

    Science.gov (United States)

    2015-08-21

    1 Stereo Vision Inside Tire P.S. Els C.M. Becker University of Pretoria W911NF-14-1-0590 Final...Stereo Vision Inside Tire 5a. CONTRACT NUMBER W911NF-14-1-0590 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Prof PS Els CM...on the development of a stereo vision system that can be mounted inside a rolling tire , known as T2-CAM for Tire -Terrain CAMera. The T2-CAM system

  6. Capital humain et croissance : Evidences sur les données de pays Africains

    OpenAIRE

    Dorothée Boccanfuso; Luc Savard; Bernice E. Savy

    2009-01-01

    La théorie économique a pendant longtemps admis une relation positive entre le capital humain et la croissance économique (Smith, 1776 ; Becker, 1964) qui sera remise en cause à la fin des années 90 dans plusieurs études (Caselli et al., 1996 ; Pritchett, 2001). Parmi les faiblesses identifiées par ces auteurs, la critique relative à l’utilisation du nombre moyen d’années d’étude comme proxy utilisé pour évaluer le stock de capital humain est souvent avancée. La non prise en considération des...

  7. Cardiovascular events in acute coronary syndrome patients with peripheral arterial disease treated with ticagrelor compared to clopidogrel: Data from the PLATO trials

    DEFF Research Database (Denmark)

    Patel, Manesh R.; Becker, Richard C.; Wojdyla, Daniel M.

    Abstract 14299: Cardiovascular Events in Acute Coronary Syndrome Patients With Peripheral Arterial Disease Treated With Ticagrelor Compared to Clopidogrel: Data From the PLATO Trial Manesh R Patel1; Richard C Becker1; Daniel M Wojdyla2; Håkan Emanuelsson3; William Hiatt4; Jay Horrow5; Steen Husted6...... Uppsala, Sweden 10 Cardiology, Uppsala Clinical Rsch center, 75185 Uppsala, Sweden Background: Patients with peripheral artery disease (PAD) and acute coronary syndrome (ACS) are at high risk for clinical events and are often difficult to manage. We evaluated cardiovascular outcomes of ACS patients...

  8. DMD and BMD in the same family due to two distinct mutations

    Energy Technology Data Exchange (ETDEWEB)

    Morandi, L.; Mora, M.; Di Blasi, C.; Brugnoni, R. [National Inst. C. Besta, Milan (Italy)] [and others

    1995-12-04

    We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing. 24 refs., 5 figs.

  9. Wavefront reconstruction by modal decomposition

    CSIR Research Space (South Africa)

    Schulze, C

    2012-08-01

    Full Text Available National Laser Centre, P.O. Box 395, Pretoria, South Africa 3Now with the Max Planck Institute for the Science of Light, Guenther-Scharowsky-Str. 1, 91058 Erlangen, Germany 4School of Physics, University of KwaZulu-Natal, Private Bag X54001, Durban 4000.... References and links 1. F. Roddier, M. Se?chaud, G. Rousset, P.-Y. Madec, M. Northcott, J.-L. Beuzit, F. Rigaut, J. Beckers, D. Sandler, P. Le?na, and O. Lai, Adaptive Optics in Astronomy (Cambridge, 1999). 2. M. A. A. Neil, R. Jukaitis, M. J. Booth, T...

  10. An Asymptotic Theory for the Re-Equilibration of a Micellar Surfactant Solution

    KAUST Repository

    Griffiths, I. M.; Bain, C. D.; Breward, C. J. W.; Chapman, S. J.; Howell, P. D.; Waters, S. L.

    2012-01-01

    Micellar surfactant solutions are characterized by a distribution of aggregates made up predominantly of premicellar aggregates (monomers, dimers, trimers, etc.) and a region of proper micelles close to the peak aggregation number, connected by an intermediate region containing a very low concentration of aggregates. Such a distribution gives rise to a distinct two-timescale reequilibration following a system dilution, known as the t1 and t2 processes, whose dynamics may be described by the Becker-Döring equations. We use a continuum version of these equations to develop a reduced asymptotic description that elucidates the behavior during each of these processes.© 2012 Society for Industrial and Applied Mathematics.

  11. La gestión del talento humano y su aporte estratégico en los objetivos organizacionales del Servicio de Rentas Internas, con sustento en el Cuadro de Mando del Talento Humano

    OpenAIRE

    Toapanta Guambi, Álvaro Hernán

    2013-01-01

    147 hojas : ilustraciones, 29 x 21 cm + CD-ROM 5055 La presente tesis tiene el propósito de evidenciar el aporte estratégico de la gestión del Talento Humano en la consecución de los objetivos organizacionales sustentado en el cuadro de mando de talento humano para una institución pública, basado en el conocimiento de los 7 pasos para medir la influencia del talento humano de (Becker, Huselid, and Ulrich, 2001) y cuadro de mando para instituciones públicas. El esquema desarrollado en es...

  12. Development and Application of a Three-Dimensional Seismo-Acoustic Coupled-Mode Model

    Science.gov (United States)

    2015-09-30

    performance of the algorithm is evaluated through comparison with other mode finding techniques and propagation codes. It is also used to calculate...2φ 1 ∂ 2ψ ∇2φ = ∂ t2 , ∇2ψ = c2 p c2 s ∂ t2 where cp is the compressional wave speed and cs is the shear wave speed. The displacements and...19, 2015. George V. Frisk, Kyle M. Becker , Subramaniam D. Rajan, Cynthia J. Sellers, Chad M. Smith, and Megan S. Ballard, “Modal Mapping Experiment

  13. Option Pricing with a Levy-Type Stochastic Dynamic Model for Stock Price Process Under Semi-Markovian Structural Perturbations

    Science.gov (United States)

    2015-11-30

    models ( Beckers 1980, Dupire 1997), the volatility depends on time and stock price through a deterministic func- tional. In both cases, in addition to...T1 ≤ T2 ≤ · · · ≤ Tn−1 are the regime switch- ing times caused by the semi-Markov process prior to t. For notational convenience, we denote θ−1 = θ0...of interest are currently being investigated: (1) an evaluation of the effects of the backward recurrence time, the sojourn time distribution and the

  14. Kurz-, mittel- und langfristige Effekte einer Schulung für Patienten mit chronisch entzündlichen Darmerkrankungen auf krankheitsbezogene Ängste und Gesundheitskompetenzen

    OpenAIRE

    Berding, Anja

    2017-01-01

    Menschen mit chronisch entzündlichen Darmerkrankungen (CED) leiden unter vielfältigen körperlichen und psychosozialen Einschränkungen. Wie auch bei anderen chronischen Erkrankungen könnten Patientenschulungen ihr psychisches Befinden verbessern (z.B. De Ridder & Schreurs, 2001; Faller, Reusch & Meng, 2011a; Küver, Becker & Ludt, 2008; Schüssler, 1998; Warsi, Wang, LaValley, Avorn & Solomon, 2004). Für CED liegen jedoch nur wenige Schulungsevaluationen vor (z.B. Bregenzer et al., 2005; Mussell...

  15. Supercritical Fluid Extraction (SFE) of uranium and thorium nitrates using carbon dioxide modified with phosphonates

    International Nuclear Information System (INIS)

    Pitchaiah, K.C.; Sujatha, K.; Brahmananda Rao, C.V.S.; Sivaraman, N.; Vasudeva Rao, P.R.

    2014-01-01

    Supercritical Fluid Extraction (SFE) has emerged as a powerful technique for the extraction of metal ions.The liquid like densities and gas like physical properties of supercritical fluids make them unique to act as special solvents. SFE based procedures were developed and demonstrated in our laboratory for the recovery of actinides from various matrices. In the present study, we have examined for the first time, the use of dialkylalkylphosphonates in supercritical carbon dioxide (Sc-CO 2 ) medium to study the extraction behavior of uranium and thorium nitrates. A series of phosphonates were synthesised by Michaelis-Becker reaction in our laboratory and employed for the SFE

  16. Rendimientos de la educación en la Argentina: un análisis de cohortes

    OpenAIRE

    Margot, Diego

    2001-01-01

    A partir del trabajo de Gary Becker (1964) se ha desarrollado considerablemente una rama de la literatura que ve la decisión de educarse como un proyecto de inversión. El activo en el que se invierte es capital humano, y las herramientas analíticas utilizadas para estudiar este problema son similares a las utilizadas para el caso del capital físico. Esta literatura generó un cambió en el foco de atención de numerosos problemas de economía laboral: la variable empírica de interés dejó de ser e...

  17. KidSmart - Medienkompetent zum Schulübergang

    Directory of Open Access Journals (Sweden)

    Anita Müller

    2012-03-01

    Full Text Available In Deutschland zeichnet sich bereits vor Schuleintritt im Bereich der literarischen und medialen Sozialisation eine Bildungsbenachteiligung ab. Vor allem Kinder aus bildungsfernen Milieus und mit Migrationshintergrund sind hiervon betroffen (vgl. Becker/Lauterbach 2004; Diefenbach 2007; Rabe-Kleberg 2010. An dieser Einsicht knüpft das Forschungs- und Interventionsprojekt KidSmart – Medienkompetent zum Schulübergang an. Medienpädagogische Arbeit steht hier im Kontext der Vorbereitung auf den Schulübergang. Durch kreative Medienarbeit soll ein Gegengewicht zur eher passiven Mediennutzung geschaffen werden. Ziel ist es Bildungsunterschiede von Kindern bereits vor Schulbeginn auszugleichen.Already before starting school educational disadvantages in the part of reading and media socialization can be identified within Germany. Generally affected are children of less educated families and children with migration background (Becker/Lauterbach 2004; Diefenbach 2007; Rabe-Kleberg 2010. Therefore, an exceptional intervention and research project KidSmart – media competence by entering school was initiated in the area of early childhood education. Within this project media-pedagogical work is corresponding with preparation of entering school. The intention is to create a counterbalance to passive media use by creative media work. The scope of the project is to fight against early educational disadvantages.

  18. Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

    Directory of Open Access Journals (Sweden)

    Sue Fletcher

    2012-01-01

    Full Text Available Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy. Antisense oligomer-induced exon skipping can modify dystrophin gene expression so that a disease-associated dystrophin pre-mRNA is processed into a Becker muscular dystrophy-like mature transcript. Despite genomic deletions that may encompass hundreds of kilobases of the gene, some dystrophin mutations appear “leaky”, and low levels of high molecular weight, and presumably semi-functional, dystrophin are produced. A likely causative mechanism is endogenous exon skipping, and Duchenne individuals with higher baseline levels of dystrophin may respond more efficiently to the administration of splice-switching antisense oligomers. We optimized excision of exons 8 and 9 in normal human myoblasts, and evaluated several oligomers in cells from eight Duchenne muscular dystrophy patients with deletions in a known “leaky” region of the dystrophin gene. Inter-patient variation in response to antisense oligomer induced skipping in vitro appeared minimal. We describe oligomers targeting exon 8, that unequivocally increase dystrophin above baseline in vitro, and propose that patients with leaky mutations are ideally suited for participation in antisense oligomer mediated splice-switching clinical studies.

  19. Observations by Juno's Radiation Monitoring Investigation During the First Year at Jupiter

    Science.gov (United States)

    Becker, H. N.; Adumitroaie, V.; Alexander, J. W.; Daubar, I.; Joergensen, J. L.; Denver, T.; Benn, M.; Adriani, A.; Mura, A.; Cicchetti, A.; Noschese, R.; Connerney, J. E. P.; Gladstone, R.; Hue, V.; Versteeg, M.; Santos-Costa, D.; Bolton, S. J.; Levin, S.; Thorne, R. M.

    2017-12-01

    Juno's Radiation Monitoring (RM) Investigation measures MeV electron fluxes at Jupiter by utilizing the noise signatures of penetrating high-energy particles which are visible in images collected by Juno's heavily shielded star cameras and science instruments. Image processing is used to identify and extract the characteristic signatures of penetrating high-energy electrons and ions and derive count rates which are used to infer external integral electron flux levels [Becker, H.N., et al. (2017), Space Sci Rev, doi: 10.1007/s11214-017-0345-9; Becker H.N. et al. (2017), Geophys. Res. Lett., 44, doi:10.1002/2017GL073091]. The count rate data from each RM instrument represents detection of electrons from within a broad energy channel (e.g. > 5 MeV or > 10 MeV electron sensitivity, determined using Geant4 shielding analysis). Simultaneous observations by the instruments therefore allow study of the external spectra where coordinated measurements are achieved. The spacecraft Stellar Reference Unit (SRU), the Magnetic Field Investigation's Advanced Stellar Compass (ASC) camera head D, and the Jovian Infrared Auroral Mapper (JIRAM) infrared imager are the primary instruments used in RM's collaborative observation campaigns. Penetrating particle signatures and trends across a broader range of Juno instruments and spacecraft housekeeping data also contribute to the analysis. This paper presents an overview of RM measurements of the Jovian high energy particle environment observed during the first eight science orbits of Juno's prime mission.

  20. Crime and punishment: Does it pay to punish?

    Science.gov (United States)

    Iglesias, J. R.; Semeshenko, V.; Schneider, E. M.; Gordon, M. B.

    2012-08-01

    Crime is the result of a rational distinctive balance between the benefits and costs of an illegal act. This idea was proposed by Becker more than forty years ago (Becker (1968) [1]). In this paper, we simulate a simple artificial society, in which agents earn fixed wages and can augment (or lose) wealth as a result of a successful (or not) act of crime. The probability of apprehension depends on the gravity of the crime, and the punishment takes the form of imprisonment and fines. We study the costs of the law enforcement system required for keeping crime within acceptable limits, and compare it with the harm produced by crime. A sharp phase transition is observed as a function of the probability of punishment, and this transition exhibits a clear hysteresis effect, suggesting that the cost of reversing a deteriorated situation might be much higher than that of maintaining a relatively low level of delinquency. Besides, we analyze economic consequences that arise from crimes under different scenarios of criminal activity and probabilities of apprehension.