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Late onset Pompe Disease: A rare cause of respiratory failure
Discussion: Late onset Pompe disease is a rare cause of respiratory failure. Diagnosis depends on clinician awareness, appropriate clinical suspicion and specific investigations. Although incurable, ERT slows disease progression and prolongs survival.
Source: European Respiratory Journal - November 25, 2021 Category: Respiratory Medicine Authors: Sudhir, R., Russell, R., Masruq, A. Tags: Sleep and control of breathing Source Type: research

Respiratory system involvement and follow-up of children with inherited metabolic diseases
Conclusions: Pulmonary involvement of IMD can be cause of mortality, so clinical suspicion and early diagnosis of lung involvement are important. Respiratory system therapy may improve prognosis of patients with IMD.
Source: European Respiratory Journal - November 25, 2021 Category: Respiratory Medicine Authors: Hocoglu, Z. I., Ramasli Gursoy, T., Sismanlar Eyuboglu, T., Aslan, A. T., Tumer, L. Tags: Paediatric bronchology Source Type: research

Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review.
Authors: Shah NM, Sharma L, Ganeshamoorthy S, Kaltsakas G Abstract Late-onset Pompe disease (LOPD) is a rare autosomal recessive glycogen storage disease that results in accumulation of glycogen in muscle cells causing muscular weakness. It causes a progressive proximal myopathy, accompanied by respiratory muscle weakness, which can lead to ventilatory failure. In untreated LOPD, the most common cause of death is respiratory failure. Patients suffering from respiratory compromise may present with symptoms of sleep-disordered breathing (SDB) before overt signs of respiratory failure. Diaphragm weakness leads to noct...
Source: Journal of Thoracic Disease - November 22, 2020 Category: Respiratory Medicine Tags: J Thorac Dis Source Type: research

Desmin and dystrophin abnormalities in upper airway muscles of snorers and patients with sleep apnea
The pathophysiology of obstruction and swallowing dysfunction in snores and sleep apnea patients remains unclear. Neuropathy and to some extent myopathy have been suggested as contributing causes. Recently we ...
Source: Respiratory Research - February 14, 2019 Category: Respiratory Medicine Authors: Farhan Shah, Karl A. Franklin, Thorbj örn Holmlund, Eva Levring Jäghagen, Diana Berggren, Sture Forsgren and Per Stål Tags: Research Source Type: research

Interest to practice a peak expiratory flow in the cough DET in prone position at the patient affected by neuromuscular disease
In conclusion, the appreciation of the efficiency of the cough by the patient rest subjective, its evaluation by the DET in prone position allows of identified by advantage an ineffective cough.
Source: European Respiratory Journal - November 19, 2018 Category: Respiratory Medicine Authors: Laouar, L., Nouioua, S., Kediha, M. I., Ali Pacha, L., Tazir, M., Taright, S. Tags: Clinical Problems Source Type: research

The value of respiratory muscle testing in a child with congenital muscular dystrophy
We report the case of a 12‐year‐old boy with congenital muscular dystrophy (CMD) in whom invasive and non‐volitional respiratory muscle tests showed an elective diaphragmatic dysfunction with the preservation of expiratory muscle strength. This finding, coupled with a clinical phenotype associating diffuse muscle atrophy with finger hyperlaxity and proximal contractures, strengthened the suspicion of Ullrich CMD. Skin‐cultured fibroblasts showed intracellular retention of collagen 6 (COL6), muscle magnetic resonance imaging was typical of COL6 myopathy, and molecular studies identified a COL6 gene mutation (COL6A2 ...
Source: Respirology Case Reports - June 30, 2014 Category: Respiratory Medicine Authors: Sonia Khirani, Ivana Dabaj, Alessandro Amaddeo, Adriana Ramirez, Susana Quijano‐Roy, Brigitte Fauroux Tags: Case Report Source Type: research