• Development and Reproduction
• /
• v.12 no.3
• /
• pp.289-296
• /
• 2008

BPES (Blepharophimosis/Ptosis/Epicanthus inversus Syndrome) is an autosomal dominant disorder caused by mutations in FOXL2. Affected individuals have premature ovarian failure (POF) in addition to small palpebral fissures, drooping eyelids, and broad nasal bridge. FOXL2 is a member of the forkhead family transcription factors. In FOXL2-deficient ovaries, granulosa cell differentiation dose not progress, leading to arrest of folliculogenesis and oocytes atresia. Using yeast two-hybrid screening of rat ovarian cDNA library with FOXL2 as bait, we found that small ubiquitin-related modifier (SUMO)-conjugating E2 enzyme UBE2I protein interacted with FOXL2 protein. UBE2I also known as UBC9 is an essential protein for processing SUMO modification. Sumoylation is a form of post-translational modification involved in diverse signaling pathways including the regulation of transcriptional activities of many transcriptional factors. In the present study, we confirmed the protein-protein interaction between FOXL2 and UBE2I in human cells, 293T, by in vivo immunoprecipitation. In addition, we generated truncated FOXL2 mutants and identified the region of FOXL2 required for its association with UBE2I using yeast-two hybrid system. Therefore, the identification of UBE2I as an interacting protein of FOXL2 further suggests a presence of novel regulatory mechanism of FOXL2 by sumoylation.

• Journal of the Korean Society of Radiology
• /
• v.17 no.3
• /
• pp.385-392
• /
• 2023

Caroli's disease is a fibrocystic liver disease. Autosomal recessive disorder is characterized by congenital multiple dilatation of the bile duct. Computerized tomography, magnetic resonance imaging, cholangiography and ultrasound are among the methods for diagnosing caroli disease. Computerized tomography is essential for detecting and distinguishing fibroplastic liver disease and is useful for determining intrahepatic bile duct dilatation. However, awareness of the possible side effects of using contrast mediums is necessary. A typical method of magnetic resonance cholangiography is used for magnetic resonance imaging. A non-invasive examination can reduce the pain of the patient, and the anatomical structure of the bile pancreatic duct and the presence or absence of lesions can be easily and quickly observed. Biliary contrast is an effective diagnostic method that can directly visualize various cystic dilatations throughout the enlarged bile duct. However, since this procedure is also an invasive procedure, it is recommended not for diagnosis but for treatment purposes. Ultrasonography can confirm similar findings to computerized tomography. The hepatic artery root is difficult to prove with conventional grayscale ultrasound. However, it is of clinical value in that it can not only describe dilated bile ducts with vascular roots in the tube but also easily identify color Doppler signals in the tube. With the development of video diagnostics, early diagnosis has become possible through computerized tomography, magnetic resonance imaging, cholangiography, and ultrasound. In order to further contribute to the development of video diagnostics so that long-term prognosis can be improved after treatment through early diagnosis, we examined what aspects of each test's caroli disease appear.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.13 no.1
• /
• pp.139-152
• /
• 2002

Objectives：This study was conducted to compare the clinical and neuropsychological characteristics by DSM-IV subtypes of attention deficit hyperactivity disorder(ADHD) patients who did not have comorbid psychiatric disorders. Methods：5-15 year old children with ADHD were recruited at psychiatric outpatient clinic of Yeungnam University hospital and the patients with comorbidity or neurological abnormalities were excluded. Finally, total 404 children with ADHD were selected for this study. There were 234 subjects of ADHD-C(57.9%), 156 subjects of ADHD-I(38.6%) and 14 subjects of ADHD-HI(3.5%), who fulfilled the DSM-IV diagnostic criteria. The mean age of the total subjects was 9.63±2.49 years old. The psychopathology, IQ, behavioral problems, neuropsychological executive function were evaluated before pharmacological treatment. The measures were Korean Personality Inventory of Child(K-PIC) for psychopathology, 4 behavioral check lists(ADDES-HV, ACTeRS, CAP, SNAP) for behavioral symptoms of ADHD, K-ABC and KEDI-WISC for IQ and Conner's CPT, WCST, SST for neuropsychological executive functions. Results：1) The prevalence of subtypes was ADHD-C, ADHD-I, ADHD-HI in decreasing order. There was no sex difference of prevalence among three subtypes. The mean age of ADHD-I was older than other subtypes. 2) There was significant differences of psychopathology among subtypes, the ADHD-C and ADHD-HI had higher than the ADHD-I in the scores of delinquent, hyperactivity and psychosis；the ADHD-C had higher than the ADHD-I in the scores of family relation and autism, the scores of ego resilience were lower than the ADHD-I. However, there was no difference in anxiety, depression and somatization scores among them. 3) The results of behavioral symptom check lists, the ADHD-C had higher the score of inattention, hyperactivity and impulsivity than the ADHD-I. Meanwhile the results of ACTeRs, which rated by the teachers, were different. 4) There were significant differences of sequential processing scale and arithmetics among subtypes in IQ using K-ABC, but there was no significant difference between the ADHD-C and the ADHD-I after excluding the ADHD-HI due to small numbers. 5) There was numerical difference among subtypes but did not reach statistical significance in three neuropsychological executive function tests. Conclusion：In conclusion, our results revealed that there was significant difference in clinical features among three subtypes but, no significant difference in executive functions.

• Sleep Medicine and Psychophysiology
• /
• v.22 no.2
• /
• pp.70-76
• /
• 2015

Background and Objectives: Insomnia is the most prevalent sleep disorder in the general population and is considered to be a disorder of hyperarousal. The aim of this study was to measure the psychophysiological responses in insomnia patients using a biofeedback system, and to compare them with results from normal healthy subjects. Materials and Methods: Eighty patients with primary insomnia (35 males and 45 females, average age $49.71{\pm}12.91years$) and 101 normal healthy controls (64 males and 37 females, average age $27.65{\pm}2.77$) participated in this study. Electromyography (EMG), heart rate (HR), skin conductance (SC), skin temperature (ST), and respiratory rate (RR) were recorded using a biofeedback system during 5 phases (baseline, stress 1, recovery 1, stress 2, recovery 2) of a stress reactivity test, and average values were calculated. Difference in values between the two groups in each corresponding phase was analyzed with independent t-test, and change in values across phases of the stress reactivity test was analyzed with paired t-test (all two-tailed, p<0.05). Results: Compared to normal controls, insomnia patients had higher EMG in all 5 phases (baseline : $7.72{\pm}3.88{\mu}V$ vs. $4.89{\pm}1.73{\mu}V$, t = -6.06, p<0.001 ; stress 1 : $10.29{\pm}5.16{\mu}V$ vs. $6.63{\pm}2.48{\mu}V$, t = -5.84, p<0.001 ; recovery 1 : $7.87{\pm}3.86{\mu}V$ vs. $5.17{\pm}2.17{\mu}V$, t = -5.61, p<0.001 ; stress 2 : $10.22{\pm}6.07{\mu}V$ vs. $6.98{\pm}2.98{\mu}V$, t = -4.37, p<0.001 ; recovery 2 : $7.88{\pm}4.25{\mu}V$ vs. $5.17{\pm}1.99{\mu}V$, t = -5.27, p<0.001). Change in heart rate across phases of the stress reactivity test were higher in normal controls than in insomnia patients (stress 1-baseline : $6.48{\pm}0.59$ vs. $3.77{\pm}0.59$, t = 3.22, p = 0.002 ; recovery 1- stress 1 : $-5.36{\pm}0.0.59$ vs. $-3.16{\pm}0.47$, t = 2.91, p = 0.004 ; stress 2-recovery 1 : $8.45{\pm}0.61$ vs. $4.03{\pm}0.47$, t = 5.72, p<0.001 ; recovery 2-stress 2 : $-8.56{\pm}0.65$ vs. $4.02{\pm}0.51$, t = -5.31, p<0.001). Conclusion: Psychophysiological profiles of insomnia patients in a stress reactivity test were different from those of normal healthy controls. These results suggest that the sympathetic nervous system is more highly activated in insomnia patients.