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@ARTICLE{Gerhalter:300597,
      author       = {T. Gerhalter and B. Marty and L. V. Gast and F. Roemer and
                      P.-Y. Baudin and R. Trollmann and M. Uder and P. G. Carlier
                      and A. Nagel$^*$},
      title        = {{L}ongitudinal {F}ollow-{U}p of {P}atients {W}ith
                      {D}uchenne {M}uscular {D}ystrophy {U}sing {Q}uantitative
                      23{N}a and 1{H} {MRI}.},
      journal      = {Journal of cachexia, sarcopenia and muscle},
      volume       = {16},
      number       = {2},
      issn         = {2190-5991},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DKFZ-2025-00811},
      pages        = {e13812},
      year         = {2025},
      note         = {#LA:E020#},
      abstract     = {Quantitative muscle MRI commonly evaluates disease activity
                      and muscle wasting in Duchenne muscular dystrophy (DMD).
                      Disturbances in ion homeostasis contribute to DMD
                      pathophysiology, but their relationships with disease
                      progression is unclear. 23Na MRI may provide insights into
                      the disease course and treatment response. This longitudinal
                      study assessed whether sodium levels are elevated in DMD
                      patients regardless of fat fraction (FF) and whether
                      baseline sodium levels influence FF changes over time.
                      Additionally, we quantified the effect of slice selection on
                      measured sodium values.Thirteen DMD boys (age 7.8 ± 2.4
                      years) underwent MRI of lower leg muscles at 3T at three
                      visits, spaced 6 months apart. We assessed FF for disease
                      progression and water T2, pH, apparent tissue sodium
                      concentration (aTSC), and intracellular-weighted 23Na signal
                      (ICwS) for disease activity. Fourteen healthy boys (age 9.5
                      ± 1.7 years) underwent the same MRI protocol once. Linear
                      regression and mixed-effect modelling were used to examine
                      sodium level increases and their impact on FF changes.In
                      DMD, muscles with FF < $10\%$ exhibited significantly
                      elevated aTSC (24.8 ± 4.6 mM vs. 14.5 ± 2.1 mM in
                      controls, p < 0.001) and higher ICwS (23.6 ± 2.5 a.u. vs.
                      14.1 ± 2.1 a.u., p < 0.001). At Visit 1, FF values showed a
                      significant negative association with aTSC (β = -17.30, p =
                      0.016) and ICwS (β = -21.02, p < 0.001). The first
                      mixed-effect model, which assessed aTSC alone, showed no
                      significant effect on FF progression but indicated a weak
                      trend (p = 0.098). The second, more comprehensive
                      model-incorporating also ICwS and water T2-revealed that FF
                      changes were positively associated with aTSC (p = 0.0023)
                      and negatively associated with ICwS and wT2 (p < 0.001 and p
                      = 0.025, respectively), with ICwS showing a significant
                      interaction with time (p = 0.0033). Varying slice
                      positioning and slice number demonstrated minimal impact on
                      aTSC and ICwS, with low CV $(2\%-4\%)$ in the mid-belly
                      region.The study demonstrates significant MRI-based changes
                      related to dystrophic alterations in DMD. We identified
                      early alterations in sodium homeostasis, independent of FF.
                      Our findings suggest that the relationship between sodium
                      levels and FF progression is complex and may not be fully
                      explained by total sodium measurements alone. Given the
                      small sample size, further validation in larger cohorts is
                      needed. Combined 1H and 23Na-MRI may offer deeper insights
                      into how metabolic and ionic changes interact with FF
                      progression and overall disease activity.},
      keywords     = {Humans / Muscular Dystrophy, Duchenne: diagnostic imaging /
                      Male / Child / Magnetic Resonance Imaging: methods /
                      Longitudinal Studies / Follow-Up Studies / Muscle, Skeletal:
                      diagnostic imaging / Disease Progression / Adolescent /
                      Sodium: metabolism / Duchenne muscular dystrophy (Other) /
                      fat fraction (Other) / muscle imaging (Other) / quantitative
                      MRI (Other) / skeletal muscle (Other) / sodium (Other) /
                      Sodium (NLM Chemicals)},
      cin          = {E020},
      ddc          = {610},
      cid          = {I:(DE-He78)E020-20160331},
      pnm          = {315 - Bildgebung und Radioonkologie (POF4-315)},
      pid          = {G:(DE-HGF)POF4-315},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40254293},
      doi          = {10.1002/jcsm.13812},
      url          = {https://inrepo02.dkfz.de/record/300597},
}