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

PURPOSE: To evaluate the effect of all-trans-retinoic acid (ATRA) on the radiosensitivity of normal human oral keratinocyte (NHOK). MATERIALS AND METHODS: Relative cell survival fraction including SF2 (survival fraction at 2 Gy) was calculated on the basis of colony formation assay. Data were fitted to the linear-quadratic model to establish the survival curve and calculate alpha and beta values. Using flow cytometry at 1, 2, 3, 4, and 5 days after exposure to 2 and 10 Gy irradiation, cell cycle arrest and apoptosis were analysed. To understand the molecular mechanism of the radiosensitization of ATRA on NHOK, proteins related with apoptosis and cell cycle arrest were investigated by Western blot analysis. RESULTS: Treatment with ATRA resulted in a significant decrease of SF2 value for NHOK from 0.63 to 0.27, and increased alpha and beta value, indicating that ATRA increased radiosensitivity of NHOK. ATRA increased LDH significantly, but increasing irradiation dose decreased LDH, suggesting that the radiosensitizing effect of ATRA is not directly related with increasing cell necrosis by ATRA. ATRA did not induce appotosis but increased G2 arrest after 10 Gy irradiation, implying that the increased radiosensitivity of NHOK may be due to a decrease in mitosis casued by increasing G2 arrest. ATRA inhibited the reduction of p53 at 3 days after 10 Gy irradiation and increased p21 at 1 day after 10 Gy irradiation. Further study is required to determine the precise relationship between this effect and the radiosensitizing effect of ATRA. CONCLUSION: These results suggested that ATRA increase radiosensitivity by inhibiting mitosis caused by increasing G2 arrest.
Apoptosis ; Blotting, Western ; Cell Cycle Checkpoints ; Cell Survival ; Flow Cytometry ; Humans* ; Keratinocytes* ; Mitosis ; Necrosis ; Radiation Tolerance* ; Radiation-Sensitizing Agents ; Retinoids ; Tretinoin*

PURPOSE: To assess the relationship between the direction of the indicating rod of the radiographic stent for ideal prosthetic design and the actual possible path of implant fixture placement when residual ridge resorption is considered. MATERIALS AND METHODS: The study materials consisted of 326 implant sites (male 214 cases and female 112 cases) from a total of 106 patients (male 65 patients and female 41 patients) who desired implant prostheses. Computed tomography of patients were taken and reformatted using ToothPix (R) software. Bony defects, bony sclerosis, the change of the direction of indicating rod, and root proximity of the adjacent teeth were examined on the CT-derived images. RESULTS: The rate of the irregular crestal cortex was relatively high on premolar and molar area of maxilla. Mandibular molar area showed relatively high rate of focal sclerosis on the area of implant fixture insertion. The position of the indicating rods were relatively acceptable on the molar areas of both jaws. However, the position of the indicating rods should be shifted to buccal side with lingual rotation of the apical end on maxillary anterior teeth and premolar area. CONCLUSION: Clinically determined rod direction and position of the indicating rod for implant placement was not always acceptable for insertion according to the reformatted CT images. The pre-operative treatment plan for implant should be determined carefully, considering the state of the alveolar bone using the reformatted CT images.
Bicuspid ; Dental Implants ; Female ; Humans ; Jaw ; Maxilla ; Molar ; Prostheses and Implants ; Sclerosis ; Stents* ; Tooth

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*

The expression of p-glycoprotein (p-gp) was evaluated in pre- and post-chemotherapy states after the administration of adriamycin-based chemotherapy in 24 gastric cancer patients. Among them, group A was composed of twelve patients who relapsed after surgery plus adjuvant chemotherapy and group B was composed of another twelve patients who received neoadjuvant chemotherapy plus surgery. Pre-chemotherapy p-gp was evaluated in 18 out of 24 patients (6 patients had no pre-chemotherapy paraffin blocks) and post-chemotherapy p-gp was evaluated from all 24 patients. Pre- and post-chemotherapy p-gp was expressed in 5 of 18 patients (27.8%), and 9 of 24 patients (37.5%), respectively, with immunohistochemical stain using monoclonal antibody JSB-1. No differences of disease-free survivals were observed in Group A based on post-chemotherapy p-gp expression from relapsed lesions. In Group B, there was a higher relapse rate (p = 0.04) and a lower one-year disease-free survival rate (p = 0.04) in post-chemotherapy p-gp positive patients when adjuvant treatment was done with the same regimen as neoadjuvant chemotherapy. In all patients studied, post-chemotherapy p-gp expression correlated with a higher systemic recurrence (p = 0.04). These data suggest that p-gp can be induced by an adriamycin-based chemotherapy in gastric cancer. Thus, we suggest that the prognosis of gastric cancer may be poor if a multidrug resistance (MDR)-related regimen is used in the presence of p-gp after neoadjuvant chemotherapy with an adriamycin-based regimen, even if the initial response is good.
Adult ; Aged ; Combined Modality Therapy ; Dose-Response Relationship, Drug ; Doxorubicin/administration & dosage/*therapeutic use ; Drug Resistance ; Female ; Human ; Immunohistochemistry ; Male ; Middle Age ; Neoplasm Recurrence, Local ; P-Glycoprotein/*metabolism ; Stomach Neoplasms/*drug therapy/*metabolism/surgery ; Survival Analysis

Fulminant gas gangrene is a rare condition, usually associated with contaminated traumatic injuries. It carries a high rate of mortality and morbidity. Also, a number of studies have implicated non-traumatic gas gangrene, associated mostly with underlying diseases that cause immunodeficiency. We report a non-traumatic fatal case of Klebsiella pneumoniae gas gangrene with small air bubbles in the left external and common iliac vein, and inferior vena cava in a previously healthy male. We would like to recommend you do not use nitrous oxide in case of gas gangrene, because it can aggravate pulmonary air embolism.
Embolism, Air ; Gas Gangrene ; Humans ; Iliac Vein ; Klebsiella ; Klebsiella pneumoniae ; Male ; Nitrous Oxide ; Vena Cava, Inferior