1/113. Prolonged respiratory failure in chlamydia pneumoniae pneumonia.We describe a 65-year-old man, who had cardiomyopathy and developed acute respiratory failure requiring ventilator treatment. Acute pneumonia caused by chlamydia pneumoniae was diagnosed based on PCR positivity of bronchoalveolar lavage. Gas exchange did not improve in response to appropriate antibiotic therapy, and the patient died.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/113. kerosene-induced severe acute respiratory failure in near drowning: reports on four cases and review of the literature.OBJECTIVE: The purpose of this study is to present an unusual respiratory and cardiovascular course after intoxication and near drowning in a river contaminated with kerosene. DESIGN: case reports and review of the literature. SETTING: intensive care unit of a university-affiliated hospital. patients: Four patients after near drowning. INTERVENTION: Supportive only. RESULTS: The four patients developed acute respiratory failure. Cardiomyopathy was present in three patients and a persistent hypokalemia in two patients. The onset of the symptoms was delayed, which led to underestimation of the severity of their illness. Two of the four patients died. The diagnosis of hydrocarbon intoxication was based on bronchoalveolar lavage results, neutrophilic alveolitis with the presence of lipid-laden macrophages, and evidence of lipoid pneumonia from the autopsy performed on one victim. One patient who clinically deteriorated and another who developed a severe restrictive pulmonary disorder were treated with corticosteroids, which were effective only in the latter patient. CONCLUSIONS: Acute kerosene intoxication in a near-drowning event often results in severe respiratory and cardiac failure, with a high fatality rate. Treatment with corticosteroids may lead to a rapid improvement in lung function.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
3/113. Spontaneous rupture of the diaphragm.A 2.5 year old girl with metachromatic leukodystrophy presented with acute respiratory distress and was initially wrongly diagnosed with pneumothorax. barium meal showed bowel loops in the left hemithorax, which prompted surgical intervention; spontaneous rupture of the diaphragm was diagnosed at surgery.- - - - - - - - - - ranking = 0.40844244794333keywords = dystrophy (Clic here for more details about this article) |
4/113. An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.We present four subjects from one family and one subject (with an affected sibling who had died) from a second, unrelated family, with early onset, Duchenne-like, muscular dystrophy who presented with proximal girdle weakness, calf and generalized muscle hypertrophy, selective wasting of the sternomastoid muscles, rigidity of the spine and contractures of the tendo Achilles. Intellect was normal. serum creatine kinase was grossly elevated and the muscle biopsies showed a dystrophic picture. All five subjects have developed early respiratory failure due to severe diaphragmatic involvement; two have already died aged 4 and 7 years of age and the remaining three are dependent on night time ventilation. There has been very little deterioration over time in the skeletal muscle function, and the survivors remain ambulant, the oldest being 11 years. Immunocytochemical studies of the muscle biopsy showed a normal pattern for dystrophin and the dystrophin-associated glycoproteins, but a reduction of the laminin alpha2 chain of merosin. magnetic resonance imaging of the brain was normal. The disease did not link to the LAMA2 locus for laminin alpha2 on chromosome 6q, so that these families seem to represent a new form of autosomal recessive muscular dystrophy with a secondary merosin deficiency. The primary protein deficiency has not yet been identified.- - - - - - - - - - ranking = 27.827762365554keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
5/113. Novel cluster of tRNALeu(UUR) mutations in a sporadic case of infantile myopathy restricted to muscle tissue.In a previous study we reported on a case with severe infantile, mitochondrial myopathy caused by somatic mutation [12]. In the present study we give evidence for asymmetric tissue distribution of the mutations. Mitochondrial dna (mtDNA) analysis showed a cluster of nearly homoplasmic point mutations in the tRNA gene for leucine (UUR) (A3259 G, A3261 G, A3266 G, A3268 G). The mutation is abundant in muscle, but is not found in blood cells. This cluster of mutations is sporadic, because the search for mutant molecules in the blood of the healthy mother and maternal grandmother did not show these alterations.- - - - - - - - - - ranking = 5keywords = myopathy (Clic here for more details about this article) |
6/113. Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications.Three ambulant males with multicore myopathy, a rare congenital myopathy, are reported with nocturnal hypoventilation progressing to respiratory failure at the age of 9, 13, and 21 years. Deterioration in these individuals occurred over several months without any precipitating event. patients had clinical evidence of nocturnal hypoventilation with hypoxaemia and hypercapnia. Forced vital capacity was significantly reduced (20 to 43% of predicted level). These parameters improved on institution of overnight ventilation using a BiPAP pressure support ventilator with face mask or nasal pillows with O2 saturation maintained above 90% overnight and an increase in forced vital capacity by as much as 100% (0.3 to 0.6 litres). This was matched by a symptomatic and functional improvement. Also present in these patients and not previously reported is the association of multicore myopathy with paraspinal contractures which produce a characteristic scoliosis described as a 'side-sliding' spine. This may be improved by spinal bracing or surgery.- - - - - - - - - - ranking = 7keywords = myopathy (Clic here for more details about this article) |
7/113. Severe respiratory depression after dimethylsulphoxide-containing autologous stem cell infusion in a patient with AL amyloidosis.Adverse reactions with DMSO-cryopreserved stem cell infusion are well-recognized. However, severe, life-threatening anaphylactic reactions with DMSO are very rarely described in the literature. We report here a 58-year-old female with AL amyloidosis who developed an unexpected episode of respiratory arrest a few seconds after the beginning of thawed stem cell product infusion. Fortunately, the patient was resuscitated successfully without the need for intubation. The prompt development of the reaction just a few seconds after the stem cell infusion convincingly implicates DMSO as the potential suspect. The presence of amyloid cardiomyopathy might have also contributed to this adverse event. bone marrow transplantation (2000) 25, 1299-1301.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
8/113. Respiratory failure due to muscle weakness in inflammatory myopathies: maintenance therapy with home mechanical ventilation.polymyositis and dermatomyositis are idiopathic inflammatory myopathies. Respiratory complications are a common feature, but ventilatory insufficiency is rare in these patients. We describe here three patients diagnosed with inflammatory myopathy (polymyositis) with respiratory failure due to muscle weakness who did not respond to immunosuppressive therapy. Mechanical ventilation at home with nasal or tracheal intermittent positive pressure resulted in improved chronic hypoventilation. This treatment improves the quality of life of patients with inflammatory myopathies and can be lifesaving in some cases.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
9/113. Familial mydriasis, cardiac arrhythmia, respiratory failure, muscular weakness and hypohidrosis.OBJECTIVES: To describe a family with some sort of progressive autonomic failure in one generation (2 affected of a sibship of 7 sisters). The main features were: mydriasis, cardiac arrhythmia, cardiomegaly, hypohidrosis, respiratory failure, and muscular weakness. methods: Pupillometry, evaporimetry, and isokinetic power measurements were carried out. RESULTS: The autonomic dysfunction pattern (mainly cardiac abnormalities, mydriasis) seems to differ somewhat from that of progressive autonomic failure (shy-drager syndrome). "Lewy body-like" inclusions were present, in particular in substantia nigra, but also in locus ceruleus and raphe nuclei (cell loss only in locus ceruleus). There were no oligodendroglial, cytoplasmatic inclusions, apparently a marker in multiple system atrophy. Proper lewy bodies were also present. Differences seemed to prevail vs the shy-drager syndrome. Various traits: muscular weakness pattern (e.g. preferential peroneal distribution), minor elbow contractures, and arrhythmia were reminiscent of Emery-Dreifuss muscle dystrophy (E-D). Distinguishing features included: hereditary pattern, mydriasis, and hypohidrosis. CONCLUSION: Conceivably, this disorder is close to, but still not identical with E-D.- - - - - - - - - - ranking = 0.40844244794333keywords = dystrophy (Clic here for more details about this article) |
10/113. Limb girdle muscular dystrophy type 2A presenting with cardiac arrest.The occurrence of respiratory failure in progressive neuromuscular disorders is well recognized. This failure is observed most commonly in Duchenne dystrophy but sometimes occurs in Becker's, limb-girdle, and facioscapulohumeral dystrophies. patients usually present acutely or subacutely with cyanosis and cor pulmonale, with severe decompensation often being precipitated by an acute intercurrent infection. However, cardiopulmonary arrest is an uncommon presentation. A male diagnosed with limb-girdle muscular dystrophy type 2A who presented with cardiopulmonary arrest that was precipitated by an upper respiratory tract infection is presented. The nocturnal application of noninvasive intermittent positive pressure ventilation with a bilevel positive airway pressure (Bi-PAP) device improved his symptoms and quality of life without resorting to more-invasive and more-restrictive forms of support. This report demonstrates an unusual presentation of limb-girdle muscular dystrophy and documents that nocturnal nasal administration of continuous airway pressure using the Bi-PAP device may be sufficient to maintain adequate ventilation in such patients.- - - - - - - - - - ranking = 28.236204813497keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
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