• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.93-101
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• 2016

Purpose: McArdle disease, glycogen storage disease type V (GSD V), is one of the most common adolescent-onset glycogen storage diseases. It is caused by recessive mutations in PYGM encoding myophosphorylase, which is critical to glycogen metabolism. Since only a few korean patients have been reported, we will observe the clinical and genetic features of three korean patients with McArdle disease. Methods: We retrospectively reviewed the medical records of three patients with genetically confirmed McArdle disease, including the results of forearm ischemic exercise test, electromyogram, nerve conduction velocity, muscle biopsy, and PYGM analysis in peripheral leukocytes. Results: All three cases were males and their age of symptom onset was 12, 5, 14 years old, respectively. A high basal level of serum creatine kinase was noted in all three patients. They experienced the recurrent episodes of rhabdomyolysis, but second wind phenomenon was not definite. In muscle biopsy, subsarcolemmal space vacuoles including periodic acid schiff stained materials were found in two patients, while no evidence of glycogen storage disease was found in the other. A total of five different mutations, $p.Arg50^*$, p.Trp798Arg, $p.Arg50^*$, p.Glu779del, $p.Asp511Thrfs^*28$ and p.Phe710del, were found in three patients. Avoidance of isometric exercise, aerobic exercise and glucose intake before each exercise were recommended for all patients. Conclusion: The three Korean patients with McArdle disease showed the typical manifestations of the condition. The most mutations were private. Therefore, identification of more cases with long-term follow-up will be required to understand the clinical and genetic features of this disease among Korean population.

• Korean Journal of Psychosomatic Medicine
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• v.7 no.2
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• pp.203-212
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• 1999

Objectives : "Alexithymia" mean literally "no word for mood(or emotion)". It is not only a marked constriction in emotional functioning but a deficit in their cognitive processing. We designed this study to investigate the level of alexithymia, psychopathology and personality factors of patients with somatoform disorder and with diabetes mellitus. Methods : The subjects were consisted of patients with somatoform disorder(N=20), patients with diabetes mellitus(N=20), and normal control(N=20). The level of alexithymia, psychopathology and personality factors were assessed by the Toronto Alexithymia Scale(TAS), the Symptom Checklist 90-Revision(SCL 90-R), and the Sixteen Personality Factor Questionnaire(16-PF). And we compared demographic characteristics, psychopathology and personality factors among three groups, and assessed the relationship between alexithymia and psychopathology, and between alexithymia and personality factors. Results : The results were as follows. 1) Patients with somatoform disorder showed significantly higher TAS scores compared to patients with diabetes mellitus and the normal control group. 2) Patients With somatoform disorder showed significantly higher scores of somatization, anxiety scales than patients with diabetes mellitus and the normal control group, and showed significantly higher scores of obsessive-compulsive, depression, phobic anxiety, psychoticism scales than the normal control group by the SCL-90-R. 3) The normal control group showed high intelligence scores only as compared to patients with somatoform disorder by the 16-PF. 4) A significant relationship was found between TAS scores and psychopathology in patients with somatoform disorder. 5) All three groups did not shown any correlation between TAS and 16-PF. Conclusion : Patients with somatoform disorder showed higher TAS scores and more multiple psychopathology than patients with diabetes mellitus and the normal controls. A significant relationship was found between TAS scores and psychopathology in patients with somatoform disorder. We suggest that the therapeutic approach to patients with somatoform disorder to express emotions and manage psychopathology, and that the treatment methods of patients with diabetes mellitus aims to improve firstly physical conditions are more helpful.