Perceived QOL by children with HMV and their families is lower than that of healthy children. Parents are happy to care for their children at home, even though it negatively affects family life. What is Known: • The use of home mechanical ventilation (HMV) in children has increased over the last years. • Normal family functioning is usually disrupted by HMV. What is New: • The aim of HMV is to provide a lifestyle similar to that of healthy children, but perceived quality of life by these patients and their parents is low. • Most of the families caring for children on HMV agree that support and resources provided by national health institutions is insufficient.

We evaluated whether patients with early-onset Parkinson's disease (EOPD) have a different clinical profile and pharmacological response than those with late-onset disease (LOPD). We performed a retrospective analysis and an acute pharmacological challenge with L-Dopa in 34 EOPD (age at onset between 21 and 40 years) and 34 LOPD (onset after age 60) patients. All patients completed a structured questionnaire cross-checked against medical record charts and underwent an acute levodopa test. Most significant differences were in the mode of onset, time of diagnosis, and degree of initial improvement. We did not observe differences with regard to motor fluctuations. The acute levodopa test showed no differences in latency to response onset between groups. However, the magnitude of the response was greater and the duration shorter in EOPD patients. Younger patients had greater reductions in bradykinesia scores, whereas posture/gait symptomatology was less responsive in older patients. The type and severity of dyskinesias also differed significantly between groups. Our findings suggest that central pharmacokinetics, pharmacodynamics, and possibly, nondopaminergic systems play a role in the age-related differences observed in Parkinson's disease.

Besides the already established predictive value of EPO levels, these data can help to identify which MF patients are more likely to benefit from ESA treatment.

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We report a patient with a progressive motor disorder dominated by pyramidal signs in all four extremities and cervical dystonia in the form of torticollis, who had imaging features of cervical cord tumor on magnetic resonance imaging (MRI) scanning. Ependymoma was the final diagnosis by histology. Cervical dystonia presenting as a manifestation of an identified focal central nervous system (CNS) lesion is infrequent. We believe our patient to be the first adult example of cervical cord tumor giving rise to cervical dystonia. Adding this entity to the list of differential diagnosis of torticollis is considered, and its mechanisms are discussed.