نتایج جستجو برای: periodic paralysis
تعداد نتایج: 101463 فیلتر نتایج به سال:
9. Fontaine B, Khurana TS, Hoffman EP et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990; 250: 1000–1002 10. Ptacek LJ, George AL Jr, Griggs RC et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991; 67: 1021–1027 11. Rojas CV, Wang JZ, Schwartz LS et al. A Met-to-Val mutation in the skeletal mu...
A boy delivered at 32 weeks' gestation developed bilateral pneumothoraces that required multiple chest drains. He was dependent on the ventilator for 52 days because of bilateral diaphragmatic paralysis. Electrophysiological studies confirmed phrenic nerve damage. He eventually made a full recovery. It is likely that this damage was caused by the insertion of the chest drains.
and humeri. It is therefore difficult to account for the occasional involvement of bones such as the patella, clavicle and scapula. The small size of the patella and its dense cancellous structure make the bone an unlikely site for a metastatic deposit. Joll (1923) suggested that trauma may determine the establishment of a circulating tumour embolus. In this case, however, there was no previous...
OBJECTIVE To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor (RYR1) gene mutations. METHODS Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with RYR1-related disorders were referred for a tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, i...
A 27-year-old man had symptoms of hyperthyroidism and periodic paralysis. While hyperthyroid, his serum thyrotropin (TSH) level was inappropriately elevated at 6.4 microU/ml. The serum alpha subunit level was also elevated. MR imaging revealed a pituitary tumor and transsphenoidal adenomectomy was performed. Immunocytochemistry with an antibody directed against the beta-subunit of TSH revealed ...
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, ...
We describe a 37-year-old man with a 4-month history of episodic muscular weakness, involving mainly lower-limbs. Hypokalemia was documented in one episode and managed with intravenous potassium chloride. Hyperthyroidism was diagnosed 4 months after onset of attacks because of mild symptoms. The patient was subsequently diagnosed as having thyrotoxic periodic paralysis associated with Graves' d...
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