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There are a number of sleep studies in amyotrophic lateral sclerosis (ALS), in general including a heterogeneous population of patients. We aimed to study sleep in a population of selected ALS patients by investigating nocturnal polysomnography (PSG) characteristics in ALS patients with normal respiratory function tests and preserved diaphragmatic(More)
OBJECTIVE Fibromyalgia syndrome (FMS) is a musculoskeletal disorder characterized by generalized pain, localized tender points, chronic fatigue and nonrestorative sleep. Since sleep disturbances frequently occur in FMS and alpha intrusion in nonrapid eye movement (NREM) sleep probably associates with the nonrefreshing sleep, we prospectively studied the(More)
Respiratory dysfunction is a critical problem in amyotrophic lateral sclerosis (ALS). We report a patient with ALS who had respiratory apraxia. A 74-year-old female presented with progressive dysarthria and dysphagia. Clinical signs and evidence of widespread denervation on electromyography (EMG) confirmed the diagnosis of ALS. She had no signs of dementia.(More)
Joint Actions are successful initiatives from the European Commission (EC) that have helped to raise awareness and to bring significant benefit to those suffering from a rare disease (RD). In this paper, we will focus on the activities developed by the EUCERD Joint Action (EJA) and by the Orphanet Joint Action ("Orphanet Europe"). EUCERD Joint Action was(More)
severe deafness. Nuclear magnetic resonance imaging of the brain was normal. Cholinesterase inhibitors had no effect. We administered 1 mg/kg prednisone to the patient daily for 2 weeks, without any benefit. The patient was discharged in an unchanged state. One month later, acute breathing distress led to respiratory arrest. Endotracheal intubation (EI) was(More)
We report a patient with proximal right upper limb tremor, secondary to direct peripheral nerve lesion caused by prior thoracic surgery. Electromyography demonstrated neurogenic abnormalities and tremor in muscles innervated by the thoracodorsal and long thoracic nerves. Somatosensory evoked potentials, transcranial magnetic stimulation, and MRI of the(More)
BACKGROUND In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medical care across Europe. The right to equity in the access to care was established by the directive of the European Parliament and of the(More)
The new law implemented in August 2007 changed the criteria to select renal transplantation (RT) candidates in Portugal, favoring hyperimmunized subjects and those on the waiting list for a longer time, making human leukocyte antigen (HLA) compatibilities less important. The authors compared patients who received a deceased donor kidney between 2005 and(More)
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient(More)