Publications by authors named "Javier Muntadas"

Neuromuscular diseases impact on children's health related quality of life but there is a lack of studies in Latin America that measured this construct. To respond to this need, this study aimed to explore quality of life and its relationship with age, functional dependence and specific diagnosis in children and adolescents in Latin America. A cross-sectional correlation study was carried out with 133 caregivers on children (2-18 years old) with various neuromuscular disorders.

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Article Synopsis
  • Congenital Myasthenic Syndromes (CMS) are rare genetic disorders that result in muscle weakness due to problems with neuromuscular transmission, particularly caused by issues in acetylcholine synthesis, leading to life-threatening breathing problems.
  • Two male patients diagnosed with CHT1-CMS exhibited symptoms like apnea, weakness, and developmental delays; treatment with pyridostigmine only partially helped their condition.
  • This report highlights the serious impacts of CMS associated with the SLC5A7 gene mutations, particularly with episodes of apnea and potential central nervous system complications, and notes a lack of documented cases in Latin America.
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A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome.

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Unlabelled: XLIF is an increasingly popular procedure that requires traversing the psoas, with the potential risk of injuring the lumbar plexus nerves. Intraoperative neurophysiological monitoring (IOM) is, therefore, critical in this kind of procedures; nevertheless, there were some reports of neural damage.

Purpose: To determine the effectiveness of a new protocol for IOM during XLIF.

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Background: Radiofrequency thermorhizotomy of the trigeminal nerve is a known treatment of trigeminal neuralgia. Analysis of verbal responses to electric stimulation of the trigeminal rootlets has been the only method available to localize the affected branch, but patient discomfort may lead to unreliable verbal responses, resulting in increased morbidity or even therapeutic failure. Orthodromically elicited evoked potentials of the trigeminal nerve have also been used, but their application is tedious and results may vary.

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