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Multidisciplinary neurological and pneumological management of patients with glycogenosis type II
Glycogenosis type II is a progressive, multisystemic and often disabling disorder that affects patients' quality of life and survival. Traditionally, three clinical forms of the disease have been classified based on age of symptoms onset: classic infantile-onset, non-classic infantile-onset and late-onset. A correct management of glycogenosis type II patients requires early intervention by a multidisciplinary team with different specialists involved. In this contest, pulmonologists play a crucial role especially in late-onset glycogenosis type II, opening a complete new scenario for them with the management of new, "unknown" patients. Thus, finding a unique approach for the diagnosis, treatment and management of glycogenosis type II patients, involving both neurologists and pulmonologists, becomes of paramount importance. Expected results of this approach should be: highly specific, non invasive and inexpensive diagnostic tools, modern rehabilitation programs, proper management of emergencies and proper chronic care. In addition, new outcomes based on patients and family satisfaction and on the reduction of hospitalization complications should be sought. Here, we present the main concepts on the diagnosis, treatment and management of glycogenosis type II and we suggest a possible collaborative approach for neurologists and pulmonologists
Dependence Nursing Scale: a new method to assess the effect of nursing workload in a respiratory intermediate intensive care unit.
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Malattie del motoneurone. Neuropatie e miopatie.
Il capitolo discutere i meccanismi fisiopatologici dell'insufficienza respiratoria acuta dei pazienti affetti da patologie neuromuscolari. Presenta i criteri diagnostici delle varie forme di patologie neuromuscolari per garantire una diagnosi precoce. 3. Elenca i trattamenti, farmacologici e non, per il trattamento sintomatico ed eziologico di queste particolari malattie
Long-term tracheostomy in severe COPD patients weaned from mechanical ventilation.
Background- It has been shown that Chronic Obstructive Pulmonary Disease (COPD) patients undergoing an episode of acute respiratory failure (ARF) requiring mechanical ventilation are at risk of relapses. Therefore it might be conceivable to maintain, at least temporarily, the tracheostomy after discharge from the ICU also in spontaneously breathing patients. The aim of this study was to evaluate the six month effects of chronic tracheostomy in severe COPD patients after weaning from mechanical ventilation.Setting- An adult four beds respiratory intermediate ICU in an Italian Respiratory Rehabilitation Department.Patients-Twenty tracheotomized COPD patients, recovering from an episode of ARF and weaned from mechanical ventilation were randomly allocated into two groups: group 1 (10 patients) maintaining their tracheal cannula, and group 2 (10 patients) having the tracheal cannula removed and their cutaneous fistula spontaneously closed. Measurements- Breathing pattern, forced lung volumes, respiratory muscle force and arterial blood gases were evaluated at discharge (T0) and at 1 (T1), 3 (T3) and 6 months (T6) after discharge; days spent in the hospital (HS), mortality rate and number of new exacerbations requiring antibiotic use were also recorded.Results- Maximal Expiratory Pressure (MEP) but not other lung function parameters significantly improved over time in both groups. Two out of 10 patients (20%) in both groups died due to respiratory causes after 5.0±0.8 months since discharge. During the follow up exacerbations (0.8 ± 0.1 vs. 0.4 ± 0.5 n/patient; p < 0.005 in group 1 and 2 respectively) but not HS were significantly greater in patients of group 1.Conclusions- Chronic tracheostomy in severe COPD patients may be associated to more frequent exacerbations requiring antibiotic treatment. When free from absolute indications of tracheostomy, COPD patients weaned from mechanical ventilation should undergo early decannulation
Telemedicine in chronic obstructive pulmonary disease
Telemedicine is a medical application of advanced technology to disease management. This modality may provide benefits also to patients with chronic obstructive pulmonary disease (COPD). Different devices and systems are used. The legal problems associated with telemedicine are still controversial. Economic advantages for healthcare systems, though potentially high, are still poorly investigated. A European Respiratory Society Task Force has defined indications, follow-up, equipment, facilities, legal and economic issues of tele-monitoring of COPD patients including those undergoing home mechanical ventilation
Pneumological approach to Pompe disease and other neuromuscular disorders
Respiratory failure is an unavoidable or very frequent event in the natural history of some neuromuscular diseases, whereas it appears very unfrequently in others. In some cases, like Pompe disease, respiratory failure shows a more rapid worsening compared to motor impairment, sometimes being the onset event. The most frequent respiratory onset manifestation is exercise breathlessness, frequently associated to a history of lung infections. Nevertheless these patients may show a physiological picture of chronic respiratory insufficiency. Home mechanical ventilation improves survival and quality of life of these patients, with a reduction in health care costs. As a consequence pulmonologists must perform a more relevant role in the care of these patients and they must increase their skills for such a task. In Pompe disease mechanical ventilation is started during an episode of Acute Respiratory Failure (ARF) without any previous lung function tests: as a consequence these patients require more frequent physiological evaluations to avoid potentially fatal exacerbations. Therefore a collaboration between pulmonologist and neurologist is mandatory. Respiratory follow-up is aimed to early diagnosis and treatment of respiratory complications. It may differ according to different diagnosis and disease stage. The specific interest for adult onset Pompe disease relies on the aivailability of enzimatic therapy which has been shown to be effective in slowing disease progression. The aim of this statement is to give pulmonologists some simple information in order they can fulfil their role of "main caregiver" with appropriate and quick diagnosis and treatment
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