Publications by authors named "Maria Jose Garcia-Antelo"

Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD).

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Article Synopsis
  • Late onset Pompe disease (LOPD) leads to gradual weakness in skeletal and respiratory muscles, which is treated with enzyme replacement therapy (ERT) using alglucosidase alpha (rhGAA).
  • In a study of 25 ERT-treated patients, 72% developed antibodies against rhGAA, but their impact on clinical progression was examined with muscle function tests, spirometry, and quantitative MRI over one year.
  • Results showed that low and intermediate antibody levels did not significantly affect muscle function, breathing tests, or MRI outcomes, suggesting these antibodies may not hinder the effectiveness of the treatment.
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Auditory hallucinations are defined as the abnormal perception of sound in the absence of an external auditory stimulus. Musical hallucinations constitute a complex type of auditory hallucination characterized by perception of melodies, music, or songs. Musical hallucinations are infrequent and have been described in 0.

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Introduction: Man-in-the-barrel syndrome was initially observed in patients with signs of serious cerebral hypoperfusion, in the border zone of the anterior and medial cerebral artery, but other causes were communicated later.

Methods: a healthy 43-year-old woman who showed intense cervical pain, irradiating over both shoulders and arms. Physical examination on admission highlighted notable brachial diparesis, tacto-algesic hypoesthesia of both arms and sensory level C4-D9.

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A 72-year-old male presented to the emergency department with gait instability and unclear speech. Computed tomography of the brain showed old lacunar infarcts in basal ganglia. Transcranial Doppler (TCD) sonography was normal.

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