Experience of a Single Center in Treating Multiple Manifestations of Tuberous Sclerosis Complex with Everolimus

Hyunji Ahn,Mi-Sun Yum,Han Na Jang,Cheryn Song,Tae-Sung Ko 대한소아신경학회 2019 대한소아신경학회지 Vol.27 No.4

Purpose: The aim of this study was to evaluate the efficacy and tolerability of everolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, for the treatment of tuberous sclerosis complex (TSC) manifestations. Methods: A retrospective analysis was conducted using an in-house research database with the keywords “tuberous sclerosis AND everolimus.” Twenty patients were treated with everolimus for TSC from 2013 to February 2019. Results: The mean age of the 20 patients was 25.6 years (range, 0 to 57), and the average duration of everolimus treatment was 87.6 weeks (range, 0 to 290). Everolimus was given with a usual daily dosage of 5 to 10 mg (mean, 7.1) or 0.0625 to 0.5 mg for neonates. Twelve patients were prescribed everolimus for more than 1 year for kidney angiomyolipoma (AML). Two of those patients (16.7%) experienced reductions of >50% in tumor size, and four patients (33.3%) experienced reductions of 25% to 50%. The four patients who were prescribed everolimus for subependymal giant cell astrocytoma (SEGA) had 25% to 50% reductions. Neonates with cardiac rhabdomyoma showed significant tumor reduction with everolimus, but their tumors exhibited rebound size increases after treatment was halted. Of the three patients with intractable seizures, one patient became seizure-free, and two patients had >50% reductions. Overall, everolimus therapy was well tolerated. Conclusion: Everolimus, an mTOR inhibitor, was effective for seizure control and size reduction of kidney AML, SEGA, and cardiac rhabdomyoma tumors in patients with TSC. However, clinicians should also be aware of the adverse event profile of everolimus.

The Genetic Relationship between Paroxysmal Movement Disorders and Epilepsy

Hyunji Ahn,Tae-Sung Ko 대한소아신경학회 2020 대한소아신경학회지 Vol.28 No.3

Seizures and movement disorders both involve abnormal movements and are often difficult to distinguish due to their overlapping phenomenology and possible etiological commonalities. Paroxysmal movement disorders, which include three paroxysmal dyskinesia syndromes (paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia), hemiplegic migraine, and episodic ataxia, are important examples of conditions where movement disorders and seizures overlap. Recently, many articles describing genes associated with paroxysmal movement disorders and epilepsy have been published, providing much information about their molecular pathology. In this review, we summarize the main genetic disorders that results in co-occurrence of epilepsy and paroxysmal movement disorders, with a presentation of their genetic characteristics, suspected pathogenic mechanisms, and detailed descriptions of paroxysmal movement disorders and seizure types.

소아기 발병 난치성 뇌전증 환자에서 Rufinamide의 효용성과 안전성

안현지(Hyunji Ahn),염미선(Mi-Sun Yum),김민지(Min-Jee Kim),예혜련(Hye-Ryun Yeh),고태성(Tae-sung Ko) 대한소아신경학회 2017 대한소아신경학회지 Vol.25 No.2

목적: 본 연구에서는 소아기에 발병한 난치성 뇌전증 환자를 대상으로 보조적 요법으로 사용한 rufinamide의 효용성과 안전성을 확인 해보고자 하였다. 방법: 서울아산병원 어린이병원에서 난치성 뇌전증으로 rufinamide를 처방받은 70명의 환자들의 의무기록을 후향적으로 분석하였다. 의무기록이 불완전한 2명의 환자를 제외한 68명의 환자가 연구에 참여하였다. Rufinamide는 기존의 항경련제에 보조요법으로 사용하였고 발작의 빈도는 rufinamide 투여 전 4주 간의 발작 횟수 와 투약 3개월, 12개월 후의 발작 횟수를 비교하여 평가하였다. 결과: 평균연령은 10.5세(범위, 1-24세)이었으며 남자가 43명, 여자는 25명이었다. 투여 3개월에 7.4%가 발작 완전 관해되었고, 발작 빈도가 50% 이상 감소한 반응군은 41.2% 이었다. 투여 12개월에는 10.3%가 발작 완전 관해되었고, 반응군은 42.6%였다. 약물 유지율 은 3개월에 75%, 12개월에 66.2%로 확인되었다. 부작용은 29명의 환자에서 보고되었으며 발작 악화, 기면, 불면, 감기 증상, 구역, 구토 순으로 많았다. 결론: Rufinamide가 레녹스-가스토 증후군에 특화된 약물이기는 하나 기타 소아기에 발생한 난치성 뇌전증 환자들에서도 효과적이고 안전하게 투여할 수 있는 약물이라는 것을 확인할 수 있었다. Purpose: This study is aimed to evaluate the effectiveness and tolerability of rufinamide as add-on therapy in patients with intractable epilepsies. Methods: We retrospectively reviewed the medical records of 70 patients treated with rufinamide in Asan Medical Center, children’s hospital. Two cases with incomplete medical records were excluded and total sixty-eight cases were enrolled. Rufinamide was added on the existing antiepileptic drugs and the total seizure frequency at pre-medication, 3 months and 12 months were examined. Results: The mean age of 68 patients (43 male) was 10.5 yrs (range, 1-24 yrs). At 3 months after rufinamide initiation, 5 patients achieved freedom from seizures and 28 (41.2%) achieved a ≥50% seizure reduction. At 12 months, 7 patients achieved seizure freedom and 29 (42.6%) achieved ≥50% seizure reduction. The retention rate was hold up to 75.0% at 3 months and 66.2% at 12 months of study. Total 29 patients reported adverse events in order of seizure aggravation, somnolence, insomnia, common cold, nausea and vomiting. Conclusion: In this study, rufinamide is effective and tolerable in patients with other intractable epilepsy of childhood onset as well as the patients with LGS. Further research is required to define the efficacy of rufinamide in intractable epilepsy other than LGS.

소아에서의 히라야마병 2예

안현지(Hyunji Ahn),염미선(Mi Sun Yum),김현진(Hyun Jin Kim),예혜련(Hye Ryun Yeh),고태성(Tae Sung Ko) 대한소아신경학회 2018 대한소아신경학회지 Vol.26 No.1

히라야마병은 감각 및 중추신경계의 증상 없이 상지의 근위축과 근력약화가 진행하는 경추척수증으로 매우 드문 질환이다. 이에 저자들은 일측 손목 하수와 일측 근력약화, 근위축을 보인 소아에서의 히라야마병 2예를 보고하는 바이다. 첫번째 환자는 16세 남아로 좌측 손목 하수와 함께 동측의 2-5번째 손가락의 떨림이 진행하는 것으로 내원하였고, 신체진찰상 중수수지, 지절간관절의 근력약화, 배측골간근, 소지외전근의 근위축이 확인되었다. 두번째 환자는 14세 남아로 우측 손의 근력약화와 글씨를 바르게 쓰기 어려운 것이 진행하여 내원하였고, 신체진찰상 천지굴근, 모지대립근, 충양근, 척측수근굴근, 심지굴근, 소지굴근, 무지내전근, 배측골간근, 수장측골간근의 근력약화와 무지구근, 중간구근의 근위축이 확인되었다. 두 환자는 특별한 과거력은 없었고, 전해질 및 혈당 검사는 정상이었다. 운동신경전도검사에서 척골신경과 요골신경의 운동신경활동전위진폭이 감소하였고, 척추자기공명영상검사에서 전자는 정상이었으나 후자는 C5-C7의 앞쪽 척수가 약간 비대칭적으로 얇아진 소견이 확인되었다. 두 환자 모두 경추굽힘을 피하도록 하면서 재활치료를 받으면서 증상의 추가적인 진행은 없었다. 히라야마병은 유병률이 높지 않아 쉽게 간과되거나 오진될 수 있으나 조기에 진단하여 반복적인 경추굽힘으로 인해 병이 진행하지 않도록 예방할 수 있는 병이다. 그러므로 소아에서 감각이상 없이 원위부 근력 약화나 근위축을 보일 때 히라야마병의 가능성을 고려하는 것이 중요하겠다. We report two pediatric cases with Hirayama disease-a 16-year-old boy with a left wrist drop and a 14-year-old-boy with weakness and muscle atrophy of right hand. Motor nerve conduction study revealed decreased motor nerve action potential amplitudes in the ulnar nerve and radial nerve of the affected hands. The former patient showed normal magnetic resonance imaging (MRI) of the cervical spine, but the latter showed mild, asymmetric thinning of the anterior spinal cord at levels C5 to C7. Following active rehabilitation and avoidance of neck flexion, no further progression of neurological findings was noticed. These clinical findings were typical of Hirayama disease. We show that timely and accurate diagnosis for Hirayama disease is possible with awareness of disease history, careful physical examination, and the use of neurophysiological studies and MRI studies.

자기 가치 확인이 심리적 고통을 경험하는 대학생의 전문적 도움추구에 대한 개방성에 미치는 영향

안현지(Hyunji Ahn),김창대(Changdai Kim) 한국상담학회 2022 상담학연구 Vol.23 No.2

Time-dependent Absorption of Doxorubicin, Paclitaxel and Cisplatin during Rotational Intraperitoneal Pressurized Aerosol Chemotherapy in a Porcine Model

( Hyunji Lim ),( Whasun Lim ),( Ji Yeon Ahn ),( Gwonhwa Song ),( Byeong-cheol Kang ),( Suk Joon Chang ),( Jung Chan Lee ),( Jeong Mook Lim ),( Hee Seung Kim ) 대한산부인과학회 2020 대한산부인과학회 학술대회 Vol.106 No.-

Objective: To improve the drug distribution and penetration depth in pressurized intraperitoneal aerosol chemotherapy (PIPAC), we developed a novel prototype for rotational intraperitoneal pressurized aerosol chemotherapy (RIPAC) to improve drug delivery into the peritoneum. In this study, we evaluated time-dependent absorption of doxorubicin, paclitaxel and cisplatin, and their adverse effects for RIPAC in a porcine model. Methods: Doxorubicin 0.04 mg/kg, paclitaxel 0.57 mg/kg, and cisplatin 0.21 mg/kg, corresponding to about 10% dose of intravenous chemotherapy, were sprayed as aerosol during RIPAC, and capnoperitoneum at the abdominal pressure of 12 mmHg was maintained for 30 minutes in each three pigs. To analyze time-dependent absorption of these three drugs in serum, we collected serum samples for each swine at 11 time-dependent points: preoperative, every 15 minutes for two hours postoperatively, postoperative day 1 (POD1) and 2 (POD2). To evaluate tissue concentration of drug, we obtained the peritoneal tissue specimens at 12 different areas of the abdominal cavity. To evaluate adverse events, we also compared serum values of AST, ALT, GGT, bilirubin, ALP, creatinine and CRP at 7 time-dependent points: preoperative, immediately postoperative (30 minutes), POD1 to POD5. Results: The maximum concentrations of doxorubicin in serum was observed at 15 and 40 minutes, after that it decreased gradually, whereas the concentrations of paclitaxel and cisplatin increased with time. However, the concentration in tissues was maximized in central and pelvis for doxorubicin, in left flank and right lower for paclitaxel, and in pelvis for cisplatin. And there were no adverse events among these three drugs after RIPAC. Conclusion: Although the pattern of time-dependent serum levels was different among doxorubicin, paclitaxel and cisplatin, RIPAC improved drug delivery in lower abdominal cavity without adverse events.

Biological activity of Bioconversion Codonopsis Pilosula extracts

Hyunji PARK,Sohee AHN,Wonyeoung CHOI,Mijin KWON,Youngho CHO 한국생물공학회 2018 한국생물공학회 학술대회 Vol.2018 No.10

Hyperechoic pancreas on ultrasonography: an analysis of its severity and clinical implications

Hyunji Oh,박현정,Jiyun Oh,Lee Eun Sun,박성빈,Min Jae Cha,Ahn Soohyun 대한초음파의학회 2022 ULTRASONOGRAPHY Vol.41 No.2

Purpose: This study investigated risk factors for hyperechoic pancreas (HP) on ultrasonography (US) according to HP severity.Methods: Between December 2008 and February 2014, 1,459 subjects who underwent abdominal US as part of health examinations were retrospectively included. Two radiologists assessed and categorized the severity of HP as normal, mild, moderate, and severe. Subjects were allocated to two groups as follows: fatty pancreas 1 (FP1; mild to severe HP) and fatty pancreas 2 (FP2; moderate to severe HP). Clinico-metabolic parameters such as the body mass index and blood test profile of subjects with normoglycemia and prediabetes/diabetes were compared (normal vs. FP1; normal or mild HP vs. FP2). Logistic regression analysis was used to evaluate the associations between HP, nonalcoholic fatty liver disease (NAFLD), and diabetes/prediabetes with adjustment for clinico-metabolic parameters.Results: Of the 1,459 subjects, 71.2% and 40.4% showed HP and NAFLD on US, respectively. Normoglycemia and prediabetes/diabetes were present in 74.3% and 25.7% of subjects, respectively. Univariable analysis revealed that all the clinico-metabolic parameters were significantly associated with HP (all P<0.05). In the adjusted multivariable analysis, prediabetes/diabetes, NAFLD, age, and body mass index were significantly associated with HP with the FP1 and FP2 criteria. The independent factor with the strongest association with HP was NAFLD using the FP1 criterion (odds ratio [OR], 7.93; P<0.001) and prediabetes/diabetes using the FP2 criterion (OR, 6.96; P<0.001).Conclusion: NAFLD and prediabetes/diabetes were associated with US-diagnosed HP. Moderate to severe HP was a better predictor of prediabetes/diabetes, suggesting that evaluating HP severity may be useful in clinical practice.

유전자 임베딩을 이용한 암 예후 예측 방법

김현지(Hyunji Kim),안재균(Jaegyoon Ahn) Korean Institute of Information Scientists and Eng 2021 정보과학회논문지 Vol.48 No.7

Identifying prognostic genes and using them to predict the prognosis of cancer patients can help provide them with more effective treatments. Many methods have been proposed to identify prognostic genes and predict cancer prognosis, and recent studies have focused on machine learning methods including deep learning. However, applying gene expression data to machine learning methods has the limitations of a small number of samples and a large number of genes. In this study, we additionally use a gene network to generate many random gene paths, which we used for training the model, thereby compensating for the small sample problem. We identified the prognostic genes and predicted the prognosis of patients using the gene expression data and gene networks for five cancer types and confirmed that the proposed method showed better predictive accuracy compared to other existing methods, and good performance on small sample data.

DPESS: 임베딩 공간 통계를 이용한 주간 위성영상 기반의 인구 통계학적 속성 예측

차현지(Hyunji Cha),한성원(Sungwon Han),안동현(Donghyun Ahn),박성원(Sungwon Park),차미영(Meeyoung Cha) 한국정보과학회 2019 한국정보과학회 학술발표논문집 Vol.2019 No.12