Neurology
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Controlled Clinical Trial
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
Congenital myasthenic syndromes (CMS) with underlying RAPSN mutations turned out to be of high clinical relevance due to their worldwide frequency. To date, all reported patients with CMS with sequence variations in the translated region of RAPSN carry the mutation N88K on at least one allele. The authors report two patients lacking the common N88K allele but harboring differing novel mutations of the RAPSN gene on both alleles: one patient is homozygous for a missense mutation (R164C); the second patient is compound heterozygous for a splice (IVS1-15C>A) and another missense mutation (L283P). ⋯ Screening for the common mutation RAPSN N88K facilitates targeted genetic analysis in congenital myasthenic syndromes. However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes. Sequencing of the entire gene may be considered in patients with joint contractures and respiratory problems even in the absence of the mutation N88K.
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To evaluate the frequency, types, and location of posttraumatic cerebral infarction, to assess if secondary cerebral insults were associated with cerebral infarction, and to determine if cerebral infarction affected patients' outcome. ⋯ The risk of developing posttraumatic cerebral infarction may be higher in patients with intracranial hypertension than in those without. Patients with posttraumatic cerebral infarction may be at increased risk of residual disability.
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Randomized Controlled Trial Multicenter Study Comparative Study
Efficacy of cabergoline in restless legs syndrome: a placebo-controlled study with polysomnography (CATOR).
To assess the efficacy and safety of the dopamine agonist cabergoline in the treatment of patients with idiopathic restless legs syndrome (CATOR study). ⋯ Single-evening cabergoline is an efficacious and well-tolerated short-term therapy for sensorimotor symptoms of restless legs syndrome and associated sleep disturbances.
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Randomized Controlled Trial Comparative Study Clinical Trial
High-frequency chest wall oscillation in ALS: an exploratory randomized, controlled trial.
To evaluate changes in respiratory function in patients with ALS after using high-frequency chest wall oscillation (HFCWO). ⋯ High-frequency chest wall oscillation was well tolerated, considered helpful by a majority of patients, and decreased symptoms of breathlessness. In patients with impaired breathing, high-frequency chest wall oscillation decreased fatigue and showed a trend toward slowing the decline of forced vital capacity.