X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Trippe, H; Lutz, S.; Bouikidis, Anastasios; Kaiser, Olaf; Marina, Adela Della; Schara, Ulrike

doi:10.1055/s-0035-1550749

Cited by 3 publications

(5 citation statements)

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“…This model provides (i) the usual MOND scaling laws (Eqs. 2, 3) in the limit g ≪ a 0 [26] and (ii) a theoretical MDA relation in good agreement with the observed one [27].…”

Section: Preamblesupporting

confidence: 81%

“…Indeed, the relation given by Eq. 9 is equivalent to [26] the empirical "simple µ function" of MOND used for modeling galactic rotation curves [23] as well as the MDA relation [8]. I demonstrate the good agreement between Eq.…”

Section: Agreement With the Mda Relationmentioning

confidence: 78%

“…In this article I revisit the "graviton picture", a model of gravity which employs the ad-hoc assumption that gravitation is mediated by virtual particles -gravitons -with non-zero mass [25]. This model provides (i) the usual MOND scaling laws (Eqs.…”

Section: Preamblementioning

confidence: 99%

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The “graviton picture”: a Bohr model for gravitation on galactic scales?

Trippe

2015

Can. J. Phys.

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Modified Newtonian Dynamics (MOND) provides a successful description of stellar and galactic dynamics on almost all astronomical scales. A key feature of MOND is the transition function from Newtonian to modified dynamics which corresponds to the empirical mass discrepancy-acceleration (MDA) relation. However, the functional form of the MDA relation does not follow from theory in a straightforward manner; in general, empirical MDA relations are inserted ad hoc into analyses of stellar dynamics. I revisit the possibility of gravity being mediated by massive virtual particles, gravitons. Under certain reasonable assumptions, the resulting "graviton picture" implies a MDA relation that is equivalent to the -empirical -"simple µ" function of MOND which is in very good agreement with observations. I conclude that the "graviton picture" offers a simple description of gravitation on galactic scales, potentially playing a role for gravitation analogous to the role played by Bohr's model for atomic physics.Résumé : Modified Newtonian Dynamics (MOND) provides a successful description of stellar and galactic dynamics on almost all astronomical scales. A key feature of MOND is the transition function from Newtonian to modified dynamics which corresponds to the empirical mass discrepancy-acceleration (MDA) relation. However, the functional form of the MDA relation does not follow from theory in a straightforward manner; in general, empirical MDA relations are inserted ad hoc into analyses of stellar dynamics. I revisit the possibility of gravity being mediated by massive virtual particles, gravitons. Under certain reasonable assumptions, the resulting "graviton picture" implies a MDA relation that is equivalent to the -empirical -"simple µ" function of MOND which is in very good agreement with observations. I conclude that the "graviton picture" offers a simple description of gravitation on galactic scales, potentially playing a role for gravitation analogous to the role played by Bohr's model for atomic physics.

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“…This model provides (i) the usual MOND scaling laws (Eqs. 2, 3) in the limit g ≪ a 0 [26] and (ii) a theoretical MDA relation in good agreement with the observed one [27].…”

Section: Preamblesupporting

confidence: 81%

Section: Agreement With the Mda Relationmentioning

confidence: 78%

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The “graviton picture”: a Bohr model for gravitation on galactic scales?

Trippe

2015

Can. J. Phys.

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“…Massive gravity provides an intuitive approach to the missing mass problem: assuming a luminous mass M 0 and no graviton-graviton interactions, the emitted gravitons form a halo with mass density profile ρ(r) = β M 0 r −2 with r being the radial distance and β being a scaling factor. Using β = a M /(4πυ c 2 ), with υ c being the circular speed of a test mass orbiting M 0 , and integrating over r leads to (9) [56,79,80]. Non-local gravity is based on the perception that the postulate of locality in the special theory of relativity is only approximately correct for realistic accelerated observers.…”

Section: Discussionmentioning

confidence: 99%

“…The transition function µ(x) does not follow from theory; a priori, various -empirically motivated -choices for the functional form of µ(x) are available [28,55]. A good description of the MDA data is provided [56] by the choice…”

Section: Mass Discrepancy-acceleration Relationmentioning

confidence: 99%

The ‘Missing Mass Problem’ in Astronomy and the Need for a Modified Law of Gravity

Trippe

2014

Zeitschrift Für Naturforschung A

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Since the 1930s, astronomical observations have accumulated evidence that our understanding of the dynamics of galaxies and groups of galaxies is grossly incomplete: assuming the validity of Newton's law of gravity on astronomical scales, the observed mass (stored in stars and interstellar gas) of stellar systems can account only for roughly 10% of the dynamical (gravitating) mass required to explain the high velocities of stars in those systems. The standard approach to this "missing mass problem" has been the postulate of "dark matter", meaning an additional, electromagnetically dark, matter component that provides the missing mass. However, direct observational evidence for dark matter has not been found to date. More importantly, astronomical observations obtained during the last decade indicate that dark matter cannot explain the kinematics of galaxies. Multiple observations show that the discrepancy between observed and dynamical mass is a function of gravitational acceleration (or field strength) but not of other parameters (size, rotation speed, etc.) of a galaxy; the mass discrepancy appears below a characteristic and universal acceleration a M = (1.1 ± 0.1) × 10 −10 m s −2 ("Milgrom's constant"). Consequently, the idea of a modified law of gravity, specifically the ansatz of Modified Newtonian Dynamics (MOND), is becoming increasingly important in astrophysics. MOND has successfully predicted various important empirical relations of galaxy dynamics, including the famous Tully-Fisher and Faber-Jackson relations. MOND is found to be consistent with stellar dynamics from binary stars to clusters of galaxies, thus covering stellar systems spanning eight orders of magnitude in size and 14 orders of magnitude in mass. These developments have the potential to initiate a paradigm shift from dark matter to a modified law of gravity as the physical mechanism behind the missing mass problem.

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Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience

Gangfuß

Schmitt²,

Roos

et al. 2020

Journal of Neuromuscular Diseases

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X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients who are able to walk independently to immobile patients who are only able to bring hand to mouth and depend on a respirator 24 hours a day every day. This suggests that ventilator requirements may not illustrate the full clinical picture of patients with XLMTM. At present, there is no curative therapy available, despite first promising results from ongoing gene therapy studies. In this study, we evaluated in detail the data from 13 German XLMTM patients, which was collected over a period of up to 20 years in our university hospital. We compared it to the international prospective longitudinal natural history study (NHS) data from 45 patients (containing 11 German patients). To highlight the broad phenotypic spectrum of the disease, we additionally focused on the clinical presentation of three cases at a glance. Comparing our data with the above mentioned natural history study, it appears the patients of the present German cohort seem to be more often severely affected, with higher frequency of non-ambulatory patients and patients on ventilation (and for longer time) and a higher proportion of patients needing a percutaneous endoscopic gastrostomy. Another key finding is a potential gap in time between first clinical presentation and final diagnosis, showing a need for patients to be treated in a specialized center for neuromuscular diseases.

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X-Linked Myotubular Myopathy Clinical Improvement by Use of Pyridostigmine in an Infant

Cited by 3 publications

References 0 publications

The “graviton picture”: a Bohr model for gravitation on galactic scales?

The “graviton picture”: a Bohr model for gravitation on galactic scales?

The ‘Missing Mass Problem’ in Astronomy and the Need for a Modified Law of Gravity

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience

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