Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

Purpose: The introduction of immune checkpoint inhibitors represents a major advance in the treatment of lung cancer, allowing sustained recovery in a significant proportion of patients. Nivolumab is a monoclonal anti–programmed death cell protein 1 antibody licensed for the treatment of locally advanced or metastatic non-small cell lung cancer (NSCLC) after prior chemotherapy. In this study, we describe the demographic and clinical outcomes of patients with advanced NSCLC treated with nivolumab in the Korean expanded access program. Materials and Methods: Previously treated patients with advanced non-squamous and squamous NSCLC patients received nivolumab at 3 mg/kg every 2 weeks up to 36 months. Efficacy data including investigator-assessed tumor response, progression data, survival, and safety data were collected. Results: Two hundred ninety-nine patients were treated across 36 Korean centers. The objective response rate and disease control rate were 18% and 49%, respectively; the median progression-free survival was 2.1 months (95% confidence interval [CI], 1.87 to 3.45), and the overall survival (OS) was 13.2 months (95% CI, 10.6 to 18.9). Patients with smoking history and patients who experienced immune-related adverse events showed a prolonged OS. Cox regression analysis identified smoking history, presence of immune-related adverse events as positive factors associated with OS, while liver metastasis was a negative factor associated with OS. The safety profile was generally comparable to previously reported data. Conclusion This real-world analysis supports the use of nivolumab for pretreated NSCLC patients, including those with an older age.

No abstract available.
Hypertensive Encephalopathy ; Stroke, Lacunar

No abstract available.
Astrocytoma* ; Encephalitis, Herpes Simplex* ; Herpes Simplex*

Adolescent ; Humans ; Iliac Artery ; anatomy & histology ; pathology ; Male ; Pelvis ; injuries ; Peripheral Vascular Diseases ; Tomography, X-Ray Computed ; Wounds, Nonpenetrating ; diagnosis ; diagnostic imaging

PURPOSE: The aim of this study was to investigate the effect of perinatal risk factors on brain maturation and the relationship of brain maturation and neurodevelopmental outcomes with brain maturation scoring system in brain MRI. METHODS: ELBWI infants born at the Seoul National University Children's Hospital from January 2006 to December 2010 were included. A retrospective analysis was performed with their medical record and brain MR images acquired at near full term. We read brain MRI and measured maturity with total maturation score (TMS). TMS is a previously developed anatomic scoring system to assess brain maturity. The total maturation score was used to evaluate the four parameters of maturity: (1) myelination, (2) cortical infolding, (3) involution of glial cell migration bands, and (4) presence of germinal matrix tissue. RESULTS: Images from 124 infants were evaluated. Their mean gestational age at birth was 27.1+/-2.1 weeks, and mean birth weight was 781.5+/-143.9 g. The mean TMS was 10.8+/-2.0. TMS was significantly related to the postmenstrual age (PMA) of the infant, increasing with advancing postmenstrual age (P<0.001). TMS showed no significance with neurodevelopmental delay, and with brain injury, respectively. CONCLUSION: TMS was developed for evaluating brain maturation in conventional brain MRI. The results of this study suggest that TMS was not useful for predicting neurodevelopmental delay, but further studies are needed to make standard score for each PMA and to re-evaluate the relationship between brain maturation and neurodevelopmental delay.
Birth Weight ; Brain ; Gestational Age ; Humans ; Infant ; Infant, Extremely Low Birth Weight ; Infant, Newborn ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Medical Records ; Myelin Sheath ; Neuroglia ; Parturition ; Premature Birth ; Retrospective Studies ; Risk Factors

PURPOSE: The purpose of this study was to compare outcomes for surgical treatment with those for medical treatment of GB dyskinesia. METHODS: Retrospective analysis of medical records and telephone interviews of 67 patients diagnosed with GB dyskinesia was done at Pohang St. Mary's Hospital between January 2004 and December 2009. Group 1 (n=18) patients received laparoscopic cholecystectomy. Group 2 (n=49) patients received medical treatment. GB dyskinesia was the diagnosis if the patient had typical biliary colic symptoms without GB stones or other GI disease, and if the ejection fraction was less than 35% on Tc-99m-DISIDA scans. RESULTS: The average age of patients diagnosed with GB dyskinesia was 45.8 years old. The sex ratio was 15:52 (male:female). The average symptom duration was 25.4 days. All had RUQ and, or epigastric pain. There were no significant between group differences in age, sex ratio, symptom duration, symptoms, follow up period, and ejection fraction. In group 1, patient symptoms improved after treatment in 16 cases (88.9%); in group 2, patient symptoms improved in 19 cases (38.8%). Surgical treatment was significantly more effective than medical treatment. The reasons for choosing medical treatment were predominantly the preference of the doctors. CONCLUSION: Surgical treatment is a more effective treatment for GB dyskinesia than medical treatment. Therefore, laparoscopic cholecystectomy should be considered as the 1st line treatment of choice for GB dyskinesia.
Biliary Dyskinesia ; Cholecystectomy, Laparoscopic ; Colic ; Dyskinesias ; Follow-Up Studies ; Gallbladder ; Humans ; Interviews as Topic ; Medical Records ; Retrospective Studies ; Sex Ratio

PURPOSE: To determine the patterns of evaluation and treatment in the patient with early breast cancer treated with conservative surgery and radiotherapy and to improve the radiotherapy techiniques, nationwide survey was performed. MATERIALS AND METHODS: A web-based database system for Korean Patterns of Care Study (PCS) for 6 common cancers was developed. Two hundreds sixty-one randomly selected records of eligible patients treated between 1998~999 from 15 hospitals were reviewed. RESULTS: The patients ages ranged from 24 to 85 years(median 45 years). Infiltrating ductal carcinoma was most common histologic type (88.9%) followed by medullary carcinoma (4.2%) and infiltrating lobular carcinoma (1.5%). Pathologic T stage by AJCC was T1 in 59.7% of the casses, T2 in 29.5% of the cases, Tis in 8.8% of the cases. Axillary lymph node dissection was performed in 91.2% of the cases and 69.7% were node negative. AJCC stage was 0 in 8.8% of the cases, stage I in 44.9% of the cases, stage IIa in 33.3% of the cases, and stage IIb in 8.4% of the cases. Estrogen and progesteron receptors were evaluated in 71.6%, and 70.9% of the patients, respectively. Surgical methods of breast-conserving surgery was excision/lumpectomy in 37.2%, wide excision in 11.5%, quadrantectomy in 23% and partial mastectomy in 27.5% of the cases. A pathologically confirmed negative margin was obtained in 90.8% of the cases. Pathological margin was involved with tumor in 10 patients and margin was close (less than 2 mm) in 10 patients. All the patients except one recieved more than 90% of the planned radiotherapy dose. Radiotherapy volume was breast only in 88% of the cases, breast+supraclavicular fossa (SCL) in 5% of the cases, and breast+SCL+posterior axillary boost in 4.2% of the cases. Only one patient received isolated internal mammary lymph node irradiation. Used radiation beam was Co-60 in 8 cases, 4 MV X-ray in 115 cases, 6 MV X-ray in 125 cases, and 10 MV X-ray in 11 cases. The radiation dose to the whole breast was 45~9.4 Gy (median 50.4) and boost dose was 8~20 Gy (median 10 Gy). The total radiation dose delivered was 50.4~70.4 Gy (median 60.4 Gy). CONCLUSION: There was no major deviation from current standard in the patterns of evaluation and treatment for the patients with early breast cancer treated with breast conservation method. Some varieties were identified in boost irradiation dose. Separate analysis for the datails of radiotherapy planning will be followed and the outcome of treatment is needed to evaluate the process.
Breast Neoplasms ; Breast* ; Carcinoma, Ductal ; Carcinoma, Lobular ; Carcinoma, Medullary ; Estrogens ; Humans ; Korea* ; Lymph Node Excision ; Lymph Nodes ; Mastectomy, Segmental* ; Radiotherapy

BACKGROUND: New stent implantation during intracoronary brachytherapy is discouraged due to the high risk of late thrombosis. However, new stent implantation is inevitable in some cases due to the inadequate ballooning or major dissections. Long-term follow-up results of newly implanted stents during brachytherapy are not well-known. We performed this study to evaluate the long-term clinical outcomes of newly implanted stents during intracoronary brachytherapy. METHODS: In the Seoul national university Post-Angioplasty RhEnium irradiation (SPARE) trial, patients were treated with conventional catheter-based technique and then randomized to either beta- radiation (RG) or control group (CG). Radiation was performed with 188 -rhenium-filled conventional balloon catheter system. From 1999 to 2001, new stent implantation was performed in 58 and 56 patients in RG and CG, respectively. Clinical and angiographic follow up data were analyzed. RESULTS: In RG, short-term angiographic restenosis rate was lower than CG (28.6% vs 53%, p=0.03). In RG, late thrombosis was found in 3 patients. However, there was no late thrombosis in CG. Two year major cardiac event rates were not different between the 2 groups (RG: 25.9% vs CG: 28.3%). Independent predictors for major cardiac event in RG were major dissections (>or=type C) after stent implantation (beta=70, p=0.01) and longer administration of dual antiplatelets (aspirin+clopidogrel/ ticlopidine, >6 months, beta=0.07, p=0.04). CONCLUSION: Stenting during intracoronary brachytherapy seems to be ineffective in reducing long-term event rates. When new stent implantation is inevitable during brachytherapy, extreme attention is required not to make a dissection and long-term dual antiplatelet treatment should be followed after stent implantation.
Angioplasty ; Brachytherapy ; Catheters ; Follow-Up Studies ; Humans ; Rhenium ; Seoul ; Stents* ; Thrombosis ; Ticlopidine

OBJECTIVES AND BACKGROUND: In head and neck cancer including hypopharyngeal carcinoma, cisplatin and 5-fluorouracil usually have been used as neoadjuvant chemotherapeutic agents. We investigated the difference in the influences of cisplatin and 5-fluorouracil (5-FU) on the p53 protein expression and cell responses (cell cycle arrest and apoptosis) in the hypopharyngeal cell line (PHUH-12). METHOD: PNUH-12 with a mutant type p53 (one point mutation at the 78th base, C to G, in exon 7) was treated with cisplatin and 5-FU. Changes in the cell line were assessed by MTT assay, Western blotting (p53 and p21 protein), DNA fragmentation, PI stain, and DNA flow cytometry. RESULTS: The p53 protein expression was increased after the treatment with cisplatin and 5-FU. The expression of p21 protein was increased after the treatment with 5-FU, not cisplatin. With cisplatin, we observed apoptosis by DNA fragmentation and PI stain and the increased S phase on DNA flow cytometry. But, with 5-FU, we couldn't observe apoptosis by DNA fragmentation, PI, and flow cytometry and only the increased G1 phase on DNA flow cytometry. CONCLUSION: In hypopharyngeal cell line (PNUH-12), cisplatin induced p53 dependent apoptosis and 5-FU induced p53 and p21 dependent G0/G1 cell cycle arrest, but not apoptosis.
Apoptosis ; Blotting, Western ; Cell Cycle Checkpoints ; Cell Line ; Cisplatin* ; DNA ; DNA Fragmentation ; Exons ; Flow Cytometry ; Fluorouracil* ; G1 Phase ; Head and Neck Neoplasms ; Hypopharyngeal Neoplasms ; Point Mutation ; S Phase