Prader-Willi syndrome(PWS) was first described by Prader et al in 1956. This syndrome is characterized by diminished fetal activity, low birth weight, infantile hypotonia with feeding problem, temperature instability, early onset of childhood hyperphagia with consequent obesity, short stature, hypogonadism and mental retardation. The deletion of chromosome 15(del 15(qll-13)) was reported by Ledbetter in 1981, which was thought to be of paternal origin. Recently, such micro- deletion may be diagnosed by fluorescence in situ hybridization(FISH) that recognizes specific DNA base sequence. We experienced a Prader-Willi syndrome confirmed by FISH in an infant that had hypotonia, growth retardation, feeding difficulty and FUO since 1 month of age. We report this case with a brief review and related literature.
Base Sequence ; DNA ; Fetal Movement ; Fluorescence ; Humans ; Hyperphagia ; Hypogonadism ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome*

Fryns syndrome is a lethal syndrome of multiple congenital anomalies first described by Fryns et al in 1979. A recently developed major diagnostic criteria includes abnormal face, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, lung hypoplasia with diaphragmatic hernia, central nervous system anomalies and congenital heart disease. The pathogenesis of Fryns syndrome is not clear. Of the major immediate life-threatening abnormalities of this syndrome, lung hypoplasia associated with diaphragmatic hemia has usually proven to be fatal. We report a case of Fryns syndrome, which has the prenatal ultrasonographic findings of Dandy-Walker malformation and renal hypoplasia.
Central Nervous System ; Dandy-Walker Syndrome ; Extremities ; Heart Defects, Congenital ; Hernia, Diaphragmatic ; Lung ; Nipples ; Thorax

BACKGROUND: A mixture of local anesthetics such as lidocaine and bupivacaine has frequently been used in clinical practice. The rationale behind this is to take advantage of lidocaine's rapid onset and bupivacaine's perpetuation in anesthesia. The purpose of this study was to examine the changes in the onset and recovery of nerve blocking action exerted by the different combinations of these two in the mixture. METHODS: Isolated sciatic nerve preparations obtained from adult male Sprague-Dawley rats were used in this study. Recordings of A-fiber compound action potentials (A-CAPs) were made at the end of the isolated nerve while single pulse stimuli (0.5 msec, supramaximal intensity, 2 Hz) were applied to the opposite end of the nerve. Seven different composition of lidocaine-bupivacaine mixtures were prepared (0 : 6, 1 : 5, 2 : 4, 3 : 3, 4 : 2, 5 : 1, 6 : 0 vol./vol.), where basal concentrations of lidocaine and bupivacaine were 0.2% and 0.05%, respectively. Amplitudes of A-CAPs were measured before, during and after perfusion of mixture solution. The time needed for A-CAPs amplitude to decrease to 10% of the basal value after starting perfusion (onset time) and that needed to reach to 50% of the basal value after ceasing the perfusion (recovery time) were measured. RESULTS: With increasing concentration ratios of lidocaine to bupivacaine in the mixture as mentioned above, the following onset and recovery times were obtained (6.0 +/- 0.3, 5.6 +/- 0.3, 6.0 +/- 0.5, 8.3 +/- 0.5, 7.3 +/- 0.6, 7.8 +/- 0.3, and 10.8 +/- 0.8, minutes; 38 +/- 4, 63 +/- 12, 87 +/- 19, 100 +/- 13, 104 +/- 18, 137 +/- 27, and 157 +/- 18 minutes, respectively). CONCLUSION: Onset times were, in general, exponentially decreased with the increase in the lidocaine concentration. However, recovery times were lineary increased with the increase in the bupivacaine concentration. So, it should be kept in mind that rapid onset can only be obtained with the expense of substantial reduction in the duration of local anesthetic effect of the mixture, and vice versa.
Action Potentials ; Adult ; Anesthesia ; Anesthetics ; Anesthetics, Local ; Bupivacaine ; Humans ; Lidocaine ; Male ; Nerve Block ; Neural Conduction* ; Perfusion ; Rats, Sprague-Dawley ; Sciatic Nerve

OBJECTIVES: In surgically treated non-small cell lung cancer, patients have a wide difference in prognosis even though they may be in the same stage. Therefore it is difficult to establish the prognosis for individual lung cancer patients. In this study, by using flow cytometric analysis of nuclear DNA content and S-phase fraction(SPF) of surgically treated non-small cell lung cancer patients, we proposed to establish other prognostic factors and their validity in comparison with the existing ones. METHODS: Paraffin-embedded tissue specimens from 81 surgically treated patients, diagnosed with non-small cell lung cancer ranging from stage I to stage IIIa, were analyzed by flow cytometrically determined nulear DNA content and S-phase fraction. Cellular DNA content stained with propidium iodide was analyzed by flow cytometry: histograms with a coefficient of variation exceeding 8% were not used. RESULTS: 1) DNA content analysis was carried out for 59 of 81 patients. Of the 59 patients who were investigated by flow cytometry, 45 (76.3%) of the tumors were DNA aneuploidy and 14 (23.7%) were DNA diploidy. The proportion of DNA aneuploidy tumors showed no significant difference between cell types or stage. 2) S-phase fraction was evaluated for 36 of 81 patients. Mean value of SPF was 19.2% (+/-12.62)%. The value of SPF had nothing to do with stage. 3) The proportion of the high SPF group (more than 10% of cell proliferation cycle) was 75% With advance staging, the proportion of the high SPF group increased. 4) Significant difference in the median survival time was observed between the low SPF group and the high SPF group (32 months in low SPF, 12 months in high SPF) (p<0.05). No significant difference in the median survival time was observed between the aneuploidy group and the diploidy group (19 months in aneuploidy, 34 months in diploidy). 5) Significant difference in the disease free median survival time was observed between the low SPF group and the high SPF group (5 months in low SPF, 19 months in high SPF) (p<0.05). No significant difference in the disease free median survival time was observed between the aneuploidy group and the diploidy group (12 months in aneuploidy, 34 months in diploidy). 6) Upon multivariate analysis, stage and high SPF (more than 10% of cell proliferation cycle) were significant prognostic factors in surgically treated non-small cell lung cancer patients. CONCLUSION: The TNM stage and high SPF were significant as prognostic factors in surgically treated non-small cell lung cancer patients. Therefore new treatment plan should be needed in the patients who have high SPF.
Aneuploidy ; Carcinoma, Non-Small-Cell Lung* ; Cell Proliferation ; Diploidy ; DNA* ; Flow Cytometry ; Humans ; Lung Neoplasms ; Multivariate Analysis ; Prognosis ; Propidium

Toll-like receptors (TLRs) functionally expressed in salivary epithelial cells, but their roles remain elusive. Among TLRs family, TLR3 is activated by dsRNA, a byproduct of viral infection. The aim of this study was to investigate the role of TLR3 in the inflammatory immune responses using HSG cells. Reverse transcriptase-polymerase chain reaction (RT-PCR), real-time PCR and ELISA were performed to identify expression of TLRs and TLR3-mediated chemokine inductions. The chemotaxis assay of activated T lymphocytes was also performed. Treatment of HSG cells with polyinosinic: polycytidylic acid (poly(I:C)) significantly increased interferon-gamma-inducible protein 10 (IP-10), interferoninducible T-cell alpha chemoattractant (I-TAC), and regulated on activation, normal T-cells expressed and secreted (RANTES) gene expressions in a concentration-dependent manner. Anti-TLR3 antibody blocked the increases of IP-10 and I-TAC genes. Poly(I:C)-induced increases of IP-10 and I-TAC were also confirmed at protein levels from cell lysates, but their release into extracellular medium was detected only in IP-10. We found that the culture media from HSG cells stimulated with poly(I:C) significantly increases T lymphocyte migration. Our results suggest that TLR3 plays an important role in chemokine induction, particularly IP-10, in salivary epithelial cells.
Chemokines ; Chemotaxis ; Culture Media ; Enzyme-Linked Immunosorbent Assay ; Epithelial Cells ; Gene Expression ; Humans ; Lymphocytes ; Real-Time Polymerase Chain Reaction ; T-Lymphocytes ; Toll-Like Receptors

Soluble forms of ICAM-1 (sICAM-1) and VCAM-1 (sVCAM-1) have been reported from the supernatant of cytokine-activated endothelial cells, cancer cells and from sera of cancer patients. We measured sICAM-1 and sVCAM-1 from the serum of 20 healthy volunteers and 142 gastric cancer patients by ELISA assay. Ninety-five patients were operable and 47 patients were in-operable at the time of this study. Particularly in the 28 operable patients, we sampled both portal and peripheral blood simultaneously and measured the levels of the soluble forms of cell adhesion molecules (sCAMs). The sCAMs level and sero-positivity rate increased with cancer progression in order of the healthy controls, operable patients, and inoperable patients. In in-operable cancer, the sICAM-1 level increased more with liver metastasis. sICAM-1 and sVCAM-1 did not correlate with each other in either portal or peripheral blood. A total of 58.3% of patients with liver metastasis and 22.9% of patients without liver metastasis showed synchronous expression of both sCAMs (p = 0.03). Synchronous sero-positivity of sCAMs and alpha FP was higher with liver metastasis (p = 0.01). The median overall survival duration which co-expressed both sCAMs was 9 months. This showed a significant difference compared with the sICAMs non-expressing group, where the median survival was not reached until 24 months follow-up (p = 0.002). The synchronous expression of sCAMs was an independent risk factor in gastric cancer patients. We raise the possibility that synchronous sICAM-1 and sVCAM-1 elevation may be a useful monitor to determine tumor burden in gastric cancer.
Adult ; Aged ; Female ; Human ; Intercellular Adhesion Molecule-1/blood* ; Liver Neoplasms/secondary ; Male ; Middle Age ; Stomach Neoplasms/mortality ; Stomach Neoplasms/blood* ; Survival Rate ; Vascular Cell Adhesion Molecule-1/blood*

A congenital coronary arteriovenous fistula is a rare condition, which is an abnormal communication of the coronary artery with the right or left ventricle, the right or left atrium or the pulmonary artery. A coronary arteriovenous fistula, complicated with a pulmonary aneurysm, is quite uncommon. A case of 68-year-old woman, complaining of resting chest pain for 1 week, is reported. The coronary arteriovenous fistula associated, with a pulmonary aneurysm, was confirmed by coronary angiography and multidetector-row helical CT (MDCT), and was surgically ligated.
Aged ; Aneurysm* ; Arteriovenous Fistula* ; Chest Pain ; Coronary Angiography ; Coronary Vessels ; Female ; Heart Atria ; Heart Ventricles ; Humans ; Pulmonary Artery* ; Tomography, Spiral Computed*

BACKGROUND: Lung cancer is the leading cause of malignant pleural effusions, which is currently most commonly treated using pleurodesis via bedside thoracostomy. Several agents had been used for the treatment of pleural sclerosis, but with differing efficacies and associated side effects. Our purpose with this study was to compare the efficacy, side effects and disease free survival times of patients being treated with OK-432 and doxycycline sclerotherapy in lung cancer induced malignant pleural effusions. PATIENTS AND METHODS: 79 patients who underwent pleurodesis with OK-432 and doxycycline, between Jan. 1994 and Aug. 2001, were retrospectively reviewed. Resopnses 30 days following pleurodesis were determined from chest radiographs, with the disease free survival time being evaluated according to the response. RESULTS: The success rates, 30 day followint pleurodesis, with OK-432 and doxycycline 83 and 87%, respectively (p=0.677). With regard to the side effects, fever was more common when OK-432 was used (59%, p=0.001), and pain was more common with doxycycline use (73%, p=0.008). There was no significant difference in disease free survival times between OK-432 (13.6 Months) and doxycycline (11.6 Months) (p=0.532). CONCLUSION: with the use of OK-432, for pleurodesis, was as effective as doxycycline, can be considered as an alternative treatment for malignant effusion in patients with lung cancer.
Disease-Free Survival ; Doxycycline* ; Fever ; Humans ; Lung Neoplasms* ; Lung* ; Picibanil* ; Pleural Effusion, Malignant* ; Pleurodesis* ; Radiography, Thoracic ; Retrospective Studies ; Sclerosis ; Sclerotherapy ; Thoracostomy

BACKGROUND: Lung cancer is the leading cause of malignant pleural effusions, which is currently most commonly treated using pleurodesis via bedside thoracostomy. Several agents had been used for the treatment of pleural sclerosis, but with differing efficacies and associated side effects. Our purpose with this study was to compare the efficacy, side effects and disease free survival times of patients being treated with OK-432 and doxycycline sclerotherapy in lung cancer induced malignant pleural effusions. PATIENTS AND METHODS: 79 patients who underwent pleurodesis with OK-432 and doxycycline, between Jan. 1994 and Aug. 2001, were retrospectively reviewed. Resopnses 30 days following pleurodesis were determined from chest radiographs, with the disease free survival time being evaluated according to the response. RESULTS: The success rates, 30 day followint pleurodesis, with OK-432 and doxycycline 83 and 87%, respectively (p=0.677). With regard to the side effects, fever was more common when OK-432 was used (59%, p=0.001), and pain was more common with doxycycline use (73%, p=0.008). There was no significant difference in disease free survival times between OK-432 (13.6 Months) and doxycycline (11.6 Months) (p=0.532). CONCLUSION: with the use of OK-432, for pleurodesis, was as effective as doxycycline, can be considered as an alternative treatment for malignant effusion in patients with lung cancer.
Disease-Free Survival ; Doxycycline* ; Fever ; Humans ; Lung Neoplasms* ; Lung* ; Picibanil* ; Pleural Effusion, Malignant* ; Pleurodesis* ; Radiography, Thoracic ; Retrospective Studies ; Sclerosis ; Sclerotherapy ; Thoracostomy

BACKGROUND AND OBJECTIVES: B-type natriuretic peptide (BNP) is released from the cardiac ventricles in response to increased wall tension. Early diagnosis of congestive heart failure (CHF) and assessment of the left ventricular end diastolic pressure (LVEDP) are thought to be important in the diagnosis, treatment and follow up of patients with CHF. SUBJECTS AND METHODS: Between March, 2002 and November, 2002, 50 patients, who were admitted for treatment and hemodynamic monitoring, were studied. For the BNP measurement, 3 to 5ml blood samples were collected into tubes containing EDTA. The BNP was measured with a fluorescence immunoassay kit (Triage, Biosite, San Diego, U.S.A.). Cardiac Catheterization was performed for the assessment of the LVEDP. RESULTS: Of the 50 subjects, 34 with CHF had a mean BNP level of 483.1+/-77.8 pg/mL, whereas those without CHF had a level of 79.2+/-24.0 pg/mL. The difference between the groups was statistically significant (p=0.005). A significant positive correlation was seen between the BNP and the LVEDP (r=0.53, p=0.001). The correlation between the BNP and the left ventricular ejection fraction (LVEF) was not statistically significant (r=-0.226, p=0.198). CONCLUSION: The plasma BNP was significantly increased in CHF, and might reflect the LVEDP. Further study will be required to see whether the BNP is a useful parameter for the staging and treatment of CHF.
Blood Pressure ; Cardiac Catheterization ; Cardiac Catheters ; Diagnosis ; Early Diagnosis ; Edetic Acid ; Estrogens, Conjugated (USP)* ; Fluorescence ; Follow-Up Studies ; Heart Failure* ; Heart Ventricles ; Hemodynamics ; Humans ; Immunoassay ; Natriuretic Peptide, Brain* ; Plasma ; Stroke Volume ; Ventricular Pressure