Dopa-responsive dystonia (DRD) is characterized by lower limb-onset, diurnally fluctuating dystonia and dramatic and sustained response to levodopa treatment. Segawa disease, an autosomal dominant deficiency of guanosine triphosphate cyclohydrolase 1 (encoded by GCH1) is the most common and well-known condition manifesting as DRD. However, similar clinical manifestations can be seen in individuals with deficiencies of other enzymes that are involved in the biosynthesis of dopamine. We describe the case of an 11-year-old girl who presented with abnormal gait, which had initially begun 2 years back. The patient showed diurnally fluctuating dystonia in both legs. She was able to walk without support in the morning, but was unable to stand without support in the evening. She had been diagnosed as having spastic cerebral palsy and had been managed with physical therapy at a local rehabilitation clinic. The patient had been healthy until the development of dystonia, and did not have a history of perinatal problems or developmental delay. Routine hematologic and biochemical test results were normal. Brain magnetic resonance imaging and electroencephalography showed no abnormalities. When levodopa was administered, the patient's abnormal gait dramatically improved 1 hour after receiving the medication. Genetic testing for the GCH1 gene revealed a missense mutation (c.293C>T [p.A98V]) that has previously been reported in patients with DRD. This case demonstrated that a levodopa trial is vital for accurate and early diagnosis of DRD in patients with dystonia resulting from an unknown cause.
Brain ; Cerebral Palsy* ; Child ; Diagnostic Errors ; Dopamine ; Dystonia* ; Early Diagnosis ; Electroencephalography ; Female ; Gait ; Genetic Testing ; Guanosine Triphosphate ; Humans ; Leg ; Levodopa ; Magnetic Resonance Imaging ; Mutation, Missense ; Rehabilitation

OBJECTIVE: To investigate and compare the effect of low-dye taping (LDT) and figure-8 modification of LDT (MLDT) on peak plantar pressure and heel pain in patients with heel pad atrophy. METHODS: There were reviewed 32 feet of 19 patients who have been diagnosed with heel pad atrophy who were enrolled in this study. The patients were diagnosed with heel pad atrophy with clinical findings, and loaded heel pad thickness measured by ultrasonography. At the first visit, patients were taught how to do LDT and MLDT. They were instructed to do daily living with barefoot, LDT and MLDT at least one time per day. Patients performed pedobarography with barefoot, LDT and MLDT within 2 weeks. The severity of heel pain was also checked with the visual analogue scale (VAS) during daily living with barefoot, LDT and MLDT. RESULTS: VAS of hindfoot were significantly decreased after LDT and MLDT (p < 0.01). Peak plantar pressure under hindfoot were also decreased after LDT and MLDT (p < 0.01). The effect of MLDT in decreasing peak plantar pressure of hindfoot (p < 0.01) and pain relief (p=0.001) was better than the effect of LDT. CONCLUSION: The LDT technique is clinically useful for pain management and reducing peak plantar pressure of hindfoot in patients with heel pad atrophy. MLDT is more effective than LDT in reducing peak plantar pressure and heel pain in patients with heel pad atrophy.
Atrophy* ; Foot ; Gait ; Heel* ; Humans ; Pain Management ; Ultrasonography

OBJECTIVE: To investigate the dose-related effect of trunk control training (TCT) using Trunk Stability Rehabilitation Robot Balance Trainer (TSRRBT) in chronic stroke patients with poor sitting balance. METHODS: This was a retrospective study of 38 chronic stroke patients with poor sitting balance that underwent TCT with TSRRBT. The participants were assigned either to the low-dose training (LDT) group (n=18) or to the highdose training (HDT) group (n=20). In addition to the conventional rehabilitation therapy, the LDT group received 5 sessions of TSRRBT intervention per week, whereas the HDT group received 10 sessions of TSRRBT intervention per week. The outcome measures were the scores on the Trunk Impairment Scale (TIS) and its subscales, Berg Balance Scale (BBS), Functional Ambulation Classification (FAC), and the Korean version of Modified Barthel Index (K-MBI). All outcome measures were assessed before the training and at the end of the 4-week training. RESULTS: After the 4-week intervention, TIS, BBS, FAC, and K-MBI scores showed improvement in both LDT and HDT groups. Furthermore, the improvements in TIS scores and its subscales were significantly greater in the HDT group than in the LDT group (p < 0.05). CONCLUSION: TCT using TSRRBT could be an additional treatment for the conventional rehabilitation therapy of chronic stroke patients with poor sitting balance. HDT may provide more beneficial effects on improving patients’ sitting balance than LDT.
Biofeedback, Psychology ; Classification ; Humans ; Outcome Assessment (Health Care) ; Rehabilitation ; Retrospective Studies ; Stroke* ; Video Games* ; Walking

At the time of diagnosis, about 20% of patients with gastric cancer have stage IV disease involving the liver, lung, and bone. Brain metastasis from gastric cancer is exceedingly rare, with an incidence of <1% of clinical cases. A 59-year-old man was admitted with hearing loss in the left ear and left facial palsy for 1 month. A magnetic resonance imaging scan revealed a tumor in the cerebellopontine angle that extended to the inner auditory canal and that was clinically diagnosed as acoustic neuroma. After complete resection, histological examination showed metastatic poorly differentiated carcinoma. Further investigation revealed advanced gastric cancer involving the antrum with no evidence of the involvement of other sites except the brain parenchyma. Palliative total gastrectomy was performed and the surgical specimen revealed a poorly cohesive carcinoma that was histopathologically identical to that of the resected brain tumor. Here we report this rare case of gastric cancer that initially presented as a solitary brain metastasis mimicking acoustic neuroma.
Acoustics ; Brain Neoplasms ; Brain ; Cerebellopontine Angle ; Diagnosis ; Ear ; Facial Paralysis ; Gastrectomy ; Hearing Loss ; Humans ; Incidence ; Liver ; Lung ; Magnetic Resonance Imaging ; Middle Aged ; Neoplasm Metastasis ; Neuroma, Acoustic ; Stomach Neoplasms

Inflammatory fibroid polyp is a polypoid lesion of the gastrointestinal tract, composed of fibrous tissue, blood vessels, and inflammatory infiltration often dominated by eosinophilic leukocytes. It is infrequent, localized, and non-neoplastic condition. It is most often formed in the gastric antrum and ileum, and rarely in the esophagus, small bowel or colon. The polyp in the stomach is mainly located in the submucosa of the antrum, and may cause intermittent epigastric pain, vomiting, antral obstructive symptoms or rarely bleeding. When present in small bowel, it is usually localized in the ileum and presents with obstructive symptoms but clincal manifestations are different according to the location. Intussusception resulting from the mass is not common. We report a case of inflammatory fibroid polyp of the cecum causing intussusception. A 42-year-old male patient was referred to the hospital for the evaluation of right lower quadrant abdominal pain and palpable mass. A contrast-enhanced CT scan of the whole abdomen and colonoscopic examination revealed intussusception with a cecal mass. Inflammatory fibroid polyp causing intussusception was histologically confirmed by surgical wedge resection.
Abdomen ; Abdominal Pain ; Adult ; Blood Vessels ; Cecum* ; Colon ; Eosinophils ; Esophagus ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Ileum ; Intussusception* ; Leiomyoma* ; Leukocytes ; Male ; Polyps* ; Pyloric Antrum ; Stomach ; Tomography, X-Ray Computed ; Vomiting

BACKGROUND: The glucose uptake rate is the limiting step in glucose utilization and storage. The failure of insulin to stimulate glucose uptake in muscle appears to be a primary defect of insulin resistance. This study was undertaken to examine the effect of physiological hyperinsulinemia on the phosphorylation of the insulin receptor (IR-beta), insulin receptor substrate (IRS), Akt kinase and GSK-3 in isolated skeletal muscle, in people with type 2 diabetes (n=9) and control subjects (n=11). METHODS: 75g OGTT and euglycemic hyperinsulinemic clamp test were done. And vastus lateralis muscle was obtained before and 30 min into the euglycemic clamp. Western blots were performed for tyrosine phosphorylation of insulin receptor substrate (IRS) and phosphorylation of the insulin receptor(IR-beta), Akt and GSK-3. RESULT: There were no statistical differences in the mean age, BMI and body fat between the control subjects and diabetic patients. The fasting blood sugar and HbA1c in controls and diabetic patients were 98.+/-1.3 and 208.1+/-16.5 ng/dl, and 5.4+/-0.5 and 9.2+/-0.6%, and 1.4+/-0.2 in the control subjects, and 72.2+/-52.3% (p<0.01) and 10.2+/-6.3 (p<0.01) in the diabetic patients, respectively. The insulin resistance from the euglycemic hyperinsulinemic clamp tests were 8.2+/-0.6 mg/kg/min and 3.7+/-1.1 ng/kg/min in the control subjects and in the diabetic patients, respectively (p<0.01). Compared with the normal controls, insulin-stimulated IR phosphorylation was no different to that in the diabetic patients. However, insulin-stimulated IRS phosphorylation, insulin-stimulated Akt phosphorylation and insulin-stimulated GSK-3 phosphorylation were reduced in the diabetic patients compared with the normal controls by 24, 43 and 25%, respectively (p<0.05). CONCLUSION: In korean type 2 diabetic patients, the insulin resistance may be due to the impairment of the upstream insulin signal molecular network. Further studies will focus on determining whether these signaling defects are the cause of the development of insulin resistance, or secondary to the altered metabolic state, associated with type 2 diabetes mellitus
Adipose Tissue ; Blood Glucose ; Blotting, Western ; Diabetes Mellitus, Type 2 ; Fasting ; Glucose ; Glucose Clamp Technique ; Glucose Tolerance Test ; Glycogen Synthase Kinase 3 ; Humans ; Hyperinsulinism ; Insulin ; Insulin Resistance ; Muscle, Skeletal* ; Phosphorylation ; Phosphotransferases ; Quadriceps Muscle ; Receptor, Insulin ; Signal Transduction* ; Tyrosine

OBJECTIVES: The purpose of this study is to investigate whether the ability of facial affect perception is associated with schizotypal personality traits in healthy normal controls. METHODS: 241 normal subjects were recruited in this study. The age range of all subjects was from 19 to 63 years. The schizotypal personality questionnaire(SPQ) and facial affect identification test(FAIT), which were developed and standardized in Korea, were applied. Subjects from high 1 standard deviation(H group, N=40) and low 1 standard deviation(L group, N=26) on SPQ score were compared. RESULTS: We found that the H group showed significantly reduced ability on the correctness of sadness and neutral compared with the L group. But, no significant association between SPQ and intensity or reaction point was observed in all subjects. CONCLUSION: This study suggests the individuals with high schizotypal personality trait have impairments on the facial affect identification. Also, these findings may provide the reasonable explanation of social cognition deficit of schizotypal personality disorder.
Cognition ; Humans ; Korea

Background/Aims: While switching strategies of P2Y12 receptor inhibitors (RIs) have sometimes been used in acute myocardial infarction (AMI) patients, the current status of in-hospital P2Y12RI switching remains unknown. Methods: Overall, 8,476 AMI patients who underwent successful revascularization from Korea Acute Myocardial Infarction Registry-National Institute of Health (KAMIR-NIH) were divided according to in-hospital P2Y12RI strategies, and net adverse cardiovascular events (NACEs), defined as a composite of cardiac death, non-fatal myocardial infarction (MI), stroke, or thrombolysis in myocardial infarction (TIMI) major bleeding during hospitalization were compared. Results: Patients with in-hospital P2Y12RI switching accounted for 16.5%, of which 867 patients were switched from clopidogrel to potent P2Y12RI (C-P) and 532 patients from potent P2Y12RI to clopidogrel (P-C). There were no differences in NACEs among the unchanged clopidogrel, the unchanged potent P2Y12RIs, and the P2Y12RI switching groups. However, compared to the unchanged clopidogrel group, the C-P group had a higher incidence of non-fatal MI, and the P-C group had a higher incidence of TIMI major bleeding. In clinical events of in-hospital P2Y12RI switching, 90.9% of non-fatal MI occurred during pre-switching clopidogrel administration, 60.7% of TIMI major bleeding was related to pre-switching P2Y12RIs, and 71.4% of TIMI major bleeding was related to potent P2Y12RIs. Only 21.6% of the P2Y12RI switching group switched to P2Y12RIs after a loading dose (LD); however, there were no differences in clinical events between patients with and without LD. Conclusions In-hospital P2Y12RI switching occurred occasionally, but had relatively similar clinical outcomes compared to unchanged P2Y12RIs in Korean AMI patients. Non-fatal MI and bleeding appeared to be mainly related to pre-switching P2Y12RIs.