Paroxysmal exercise induced dyskinesias (PED) are rare disorders with recurring episodes of sudden involuntary movement disorders precipitated by physical exercise. It had been reported that less than 20% of PED patients carry an SLC2A1 mutation encoding GLUT 1 of whom 49 patients have been identified worldwide We hereby reported a case of twin siblings, 23 year old male with no antecedent other past illness and family history presenting with writer’s cramps and paroxysmal exercise induced dyskinesia attributed to milder phenotype of glucose transporter type 1 deficiency with the heterozygous exon-6 SLC2A1 gene mutation. Ketogenic diet in these patients may help in these cases.
Background: Burn injuries are a major global public health concern with up to 52% of burn patients suffering from chronic pain. The aim of the study was to asses clinical profile and management of pain in burn patients.Methods: The study was a prospective hospital-based study on a total of 300 patients admitted in burn unit of the department of surgery over a period of two years. BSA burns was determined by Wallace's rule of nine in adults and in children by Lund and Browder chart. Pain was assessed using Wong-Baker FACES pain rating scale. Statistical analysis was done using SPSS program.Results: In the present study, most of the burns i.e., 46.7% were seen in <20 years age group, and more in male (58.7%) subjects. Accidental burns and superficial burns were the most common. There were 113 (53.3%) patients with pain score of 2 followed by 160 (53.3%) with pain score 3, 22 (7.3%) pain score 4 and 5 (1.7%) with pain score of 1. For pain management, 171 (57%) patients were given NSAIDS, 78 (26%) needed opioid and NSAIDs and 51 (17%) needed opioid only. Complications in our studied patients on follow up revealed 29 (9.7%) had PTSD, 22 (7.3%) had post burn contracture, 16 (5.3%) had post burn pain, 15 (5.0%) were having anxiety.Conclusions: Pain in burn victims is present throughout the rehabilitation and so should be dealt with multimodal specialties.
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