Neurofibromatosis is a complex hereditary disease involving many organs and systems. The incidence in pregnancy is less frequent and has been reported as 1/5000 to 1/18500 deliveries. Therefore, little is known about the interactions between neurofibromatosis and pregnancy. A survey of relevant literature suggests that patients with NF have an increased risk of perinatal complications (pregnancy induced hypertension, IUGR, preterm labor, abortion, stillbirth, high cesarean section rate) and maternal disease aggravation (rupture of an aneurysm, sarcomatous degeneration of neurofibroma, activation of pheochromocytoma). Refined ultrasound, flow studies and fetal monitoring allow us to provide improved pregnancy care for neurofibromatosis. However, It should be remembered that even now, neurofibromatosis places pregnant women and their fetuses in a high risk group with the potential to develop life threatening complications. We report a case of vertebral artery aneurysm and preeclampsia complicating a pregnancy with neurofibromatosis."
Aneurysm* ; Cesarean Section ; Female ; Fetal Growth Retardation ; Fetal Monitoring ; Fetus ; Genetic Diseases, Inborn ; Humans ; Hypertension ; Incidence ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1 ; Obstetric Labor, Premature ; Pre-Eclampsia* ; Pregnancy* ; Pregnant Women ; Stillbirth ; Ultrasonography ; Vertebral Artery*

Diffuse interstitial lung disease(DILD) is a large group of heterogeneous diseases that diffusely involve the pulmonary connective tissues, principally subpleural, interlobular and alveolar wall portions. Terminology and classification of these diseases are not uniform, and the cause and the pathogenesis are unknown in many entities. It is generally accepted that the response to therapy is related to the relative degree of cellularity and fibrosis present, therefore a histologic evaluation of the relative extent and severity of these changes is required. We reviewed 52 cases of DILD from January 1990 to May 1995 diagnosed by open lung biopsy to reappraise classification and quantitative assessment of the histopathologic features. Differential histopathologic features between usual interstitial pneumonia(UIP) and nonspecific interstitial pneumonia(NIP) were examined with a correlation of HRCT findings and clinical findings. Among 52 cases of DILD, 18 cases(34.6%) were UIP, 6 cases(11.5%) were hypersensitivity pneumonia was NIP was 5 cases(9.6%), interstitial lung diseases associated with the connective tissue diseases were 5 cases(9.6%), inorganic dusts were 4 cases(7.7%), infections were 4 cases(7.7%), durgs were 2 cases(3.8%), acute interstitial pneumonia was 1 case(1.9%), sarcoidosis was 1 case(1.9%) in order of frequency plus 6 other cases(11.5%). UIP was the most frequent DILD in this study which seemed to be a criteria bias of patient selection on open lung biopsy. Quantitative assessment of histopathologic features was useful in the differential diagnosis of DILD and differentiation of UIP from NIP was possible based on histopathologic features and supported by HRCT. UIP disclosed a significantly high score of fibrotic changes, especially in the interstitial fibrosis, smooth muscle proliferation and honeycombing, otherwise NIP appeared relatively high score in inflammatory changes. Correlation between histopathologic scores and the clinical outcome after steroid therapy or no therapy in UIP was not evident.
Diagnosis, Differential ; Biopsy

Anticancer drugs kill tumor cells and increase host anti-tumor immunity. Interestingly, gemcitabin (Gem) and 5-fluorouracil (5-FU), widely used anticancer drugs, lead to IL-1beta secretion releasing cathepsin B which activates Nlrp3 inflammasome in myeloid derived suppressor cells (MDSCs). MDSC derived IL-1beta enhance secretion of IL-17 by CD4+ T cells. This mechanism limits the antitumor efficacy of the drugs and promotes tumor growth.
Cathepsin B ; Cathepsins ; Fluorouracil ; Interleukin-17 ; T-Lymphocytes

OBJECTIVE: To examine the synergistic effects of both computer-assisted cognitive rehabilitation (CACR) and transcranial direct current stimulation (tDCS) on cognitive function in patients with stroke. METHODS: The current double-blind, sham-controlled study enrolled a total of 11 patients who were newly diagnosed with stroke. The patients of the tDCS group (n=6) completed sessions of the Korean computer-assisted cognitive rehabilitation program five times a week for 30 minutes a session during a mean period of 18.5 days concomitantly with the anodal tDCS over the bilateral prefrontal cortex combined with the CACR. The patients of the control group (n=5) also completed sessions of the sham stimulation during a mean period of 17.8 days. Anodal tDCS over bilateral prefrontal cortex (F3 and F4 in 10-20 EEG system) was delivered for 30 minutes at an intensity of 2 mA. Cathode electrodes were applied to the non-dominant arm. All the patients were evaluated using the Seoul Computerized Neuropsychological Test (SCNT) and the Korean Mini-Mental State Examination. RESULTS: Mann-Whitney U test revealed a significant difference between the two groups. The patients of the tDCS group achieved a significant improvement in the post/pre ratio of auditory continuous performance test and visual continuous performance test on the SCNT items. CONCLUSION: Our results indicate that the concomitant use of the tDCS with CACR to the prefrontal cortex may provide additional beneficial effects in improving the cognitive dysfunction for patients with stroke.
Arm ; Electrodes ; Electroencephalography ; Humans ; Neuropsychological Tests ; Pilot Projects* ; Prefrontal Cortex* ; Rehabilitation* ; Seoul ; Stroke*

No abstract available.
Churg-Strauss Syndrome* ; Cyclophosphamide*

Objective: The objective of this study was to compare and evaluate the diagnostic value of serum carbohydrate antigen 125 (CA125) and/or human epididymis protein 4 (HE4) and a panel of novel multiple biomarkers in patients with ovarian tumors to identify more accurate and effective markers for screening ovarian cancer. Methods: Candidate ovarian cancer biomarkers were selected based on a literature search. Dozens of candidate biomarkers were examined using 143 serum samples from patients with ovarian cancer and 157 healthy serum samples as noncancer controls. To select the optimal marker panel for an ovarian cancer classification model, a set of biomarker panels was created with the number of possible combinations of eight biomarkers. Using the set of biomarkers as an input variable, the optimal biomarker panel was selected by examining the performance of the biomarker panel set using the Random Forest algorithm as a non-linear classification method and a 10-fold cross-validation technique. Results: The final selected optimal combination of five biomarkers (CA125, HE4, cancer antigen 15-3, apolipoprotein [Apo] A1, and ApoA2) exhibited a sensitivity of 93.71% and specificity of 93.63% for ovarian cancer detection during validation. Conclusion Combining multiple biomarkers is a valid strategy for ovarian cancer diagnosis and can be used as a minimally invasive screening method for early ovarian cancer. A panel of five optimal biomarkers, including CA125 and HE4, was verified in this study. These can potentially be used as clinical biomarkers for early detection of ovarian cancer.

OBJECTIVE: This study is designed to investigate whether early surgery can result in a better outcome for seizure control and brain development in pediatric patients with intractable epilepsy. METHODS: Preoperative evaluation methods for surgery included history taking, neurological examination, chronic video-EEG monitoring with surface and subdural grid electrodes, magnetic resonance image(MRI), 3-dimensional surface rendering with MRI, PET and SPECT. The Denver Developmental Screening Test II, and the Full Scale Intelligence Quotient(FSIQ) were evaluated for developmental status before and after surgery. Seizure outcome was classified according to Engel's classification. Surgical procedures included temporal lobectomy in four subjects, extratemporal resection in 14, callosotomy in one and tumor removal in one. RESULTS: Seizure outcomes were class I in 11 patients(55%), class II in three(15%), class III in 4(20%) and class IV in two(10%). Under the age of 6 years, the preoperative average developmental delay was 12.4 months. Postoperatively, two of them caught up to their normal developmental status. Over the age of 6 years, the preoperative average FSIQ was 87.5 and the postoperative average FSIQ was 103.3. CONCLUSION: In pediatric patients with intractable epilepsy, the early surgical treatment is very helpful in the normalization of their brain function.
Brain ; Classification ; Electrodes ; Epilepsy* ; Humans ; Intelligence ; Magnetic Resonance Imaging ; Mass Screening ; Neurologic Examination ; Seizures ; Tomography, Emission-Computed, Single-Photon

Malignant germ cell tumors of the ovary are uncommon neoplasms. Although 20-25% of all ovarian tumors are derived from germ cells, only about 3% of germ cell tumors are malignant. Mixed germ cell tumors contain at least two malignant germ cell elements. These lesions should be managed with combination chemotherapy, preferably BEP. Recently we experienced a case of mixed germ cell tumor with 6 components of germ cell and sarcomatous change in a 11 year old girl. Preoperative CA-125, B-hCG, aFP, LDH, a-1-antitrypsin were elevated and the final pathologic report was mixed germ cell tumor composed of endodermal sinus tumor, embryonal carcinoma, mature and immature teratoma, choriocarcinoma, dysgerminoma and sarcomatous change, Postoperative chemotherapy with 6 courses of BEP regimen was performed and all tumor markers became normal after 4 courses of chemotherapy. What we interested in this case was several components of germ cells and sarcomatous change and the sarcomatous change might be derived from the mature cystic teratoma component, so we present this case with a brief review of the literatures here.
Carcinoma, Embryonal ; Child ; Choriocarcinoma ; Drug Therapy ; Drug Therapy, Combination ; Dysgerminoma ; Endodermal Sinus Tumor ; Female ; Germ Cells* ; Humans ; Neoplasms, Germ Cell and Embryonal* ; Ovary ; Pregnancy ; Teratoma ; Biomarkers, Tumor

BACKGROUND: An earlier index of reperfusion is desirable to determine whether additional therapy is necessary for myocardial salvage. Using the washout phenomenon of biochemical markers, many investigator have reported noninvasive methods for detection coronary reperfusion in patients with acute myocardial infarction. Recently cardiac Troponin-T has been developed as a new myocardial specific marker, especially myocardial damage. The object of this study is to investigate the utility of cardiac Troponin-T for early assessment of reperfusion therapy. METHODS: The study group comprised 10 patients with acute myocardial infarction and reperfusion therapy that was initiated within 6 hours after the onset of symptoms. Blood samples were taken before treatment, every 30 min interval for 3 hours and then 6, 24, 72 hours after the onset of reperfusion therapy to measuring Troponin-T, Creatin Kinase(CK), and CK-MB level. Serum concentration of cardiac Troponin-T level was measured with immunoassed using ES-300, Boehringer Mannheim. We compared the real reperfusion that was assessed by coronary angiogram, chest pain disappearence and resolusion of St-segment elevation with an index of coronary reperfusion, the increase in Troponin-T(big up tri, open Troponin-T) 60, 90 min after repefusion therapy(Successful Reperfusion Index : Tn-T 60(90)-0>0.3 ng/ml) and the sensitivity, specificity, Positive, and negative predictive value were calculated using this threshold(Successful Reperfusion Index). RESULTS: 1) The studied patients(M/F : 7/3, mean age 54+/-12 year) were treated within 3 hour with thrombolytic therapy(7 patients, t-PA) or emergency angioplasty(3 patients). 2) The cardiac Troponin-T levels in eight patients with successful reperfusion showed early peak within 24 hours after reperfusion therapy were initiated but in 2 patients without successful reperfusion showed sustained increase without early peak within 24 hours. The CK-MB levels in patients with successful reperfusion also showed early peak within 24 hours but 5 of 8 patients showed no significant increase until 2 hours after reperfusion therapy. 3) The sensivity, specificity, positive and negative predictive value for detecting reperfusion using a threshold value of 0.3 ng/ml of big up tri, open Troponin-T 90 min(60 min) after reperfusion therapy was 100%(56%), 50(100%), 89%(100%), and 100%(20%), respectively. CONCLUSION: Serial measurements of cardiac Troponin-T, especially reperfusion index(0.3 ng/ml of big up tri, open Troponin-T 90 min after reperfusion therapy) are useful for early assessment of reperfusion therapy in acute myocardial infarction.
Biomarkers ; Chest Pain ; Emergencies ; Humans ; Myocardial Infarction* ; Myocardial Reperfusion ; Reperfusion* ; Research Personnel ; Sensitivity and Specificity ; Troponin T*

Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28: .847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide (65 mg/m2), amiloride (0.3 mg/kg/d) and indomethacin (100 mg/m2), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.
Amiloride ; Cystostomy ; Diabetes Insipidus, Nephrogenic* ; Diagnosis ; Failure to Thrive ; Follow-Up Studies ; Frameshift Mutation ; Growth and Development ; Humans ; Hydrochlorothiazide ; Hydronephrosis ; Indomethacin ; Intellectual Disability ; Mothers ; Polyuria ; Urinary Tract ; Vasopressins