No abstract available.
Adult* ; Humans ; Thorax*

Nevoid basal cell carcinoma syndrome (NBCC syndrome) is a very rare autosomal dominant dermatopathy characterized by a primary triad with variable secondary anomalies. The chief features include nevoid basal cell carcinomas, one or more skeletal anomalies, and multiple odontogenic keratocysts of the jaw. We report a case of NBCC syndrome in a 43-year old male who had multiple nevoid basal cell carcinomas on the retroauricular area, face, chest wall, and back, which have been present since childhood. Skull x-rays revealed relatively well-circumscribed cystic, radiolucent lesions on bilateral rami of both upper and lower jaws, calcification of the falx cerebri, agenesis of the right coronoid process, and a bifid chin. The cystic lesions were histologically confirmed as keratocysts.
Child ; Male ; Female ; Humans

The cell surface glycoprotein CD44 is a kind of adhesion molecule, which binds hyaluronic acid, type I collagen and fibronectin. Although there have been numerous reports on the expression and the function of CD44 in lymphocytes and macrophages, very little is known about its distribution and definite role in epithelial tissue, especially in oral epithelial one. The present study was performed to investigate the distribution and expression of the CD44 in human gingiva and squamous cell carcinoma(SCC) arising in human gingiva. And the authors compared CD44 expression with histopathologic grade of SCC. The results were as follows: 1. The CD44 was strongly expressed in granular, spinous and basal layers of normal marginal and attached gingiva, in spinous and basal layers of normal sulcular gingiva, and in all epithelial layers of normal junctional gingiva. 2. In SCC of gingiva, the CD44 was expressed in all but one case. In most of the cases the CD44 was expressed at cell membrane and the degree of expression was relatively strong. 3. In low-grade SCC of gingiva, the CD44 was strongly expressed, especially at the basal and spinous layers of abundantly keratinized cancer nests. In high-grade SCC of gingiva, the CD44 expression tended to be weak but was strong at cells showing individual keratinization. This study suggest that the CD44 expression of normal and cancerous gingival epithelium is associated with the degree of proliferation and differentiation of epithelial cells.
Carcinoma, Squamous Cell* ; Cell Membrane ; Collagen Type I ; Epithelial Cells ; Epithelium ; Fibronectins ; Gingiva ; Humans ; Hyaluronic Acid ; Lymphocytes ; Macrophages ; Membrane Glycoproteins

Child ; Humans ; Male ; Mandible ; Osteoblastoma ; Osteosarcoma ; Recurrence ; Young Adult

Quercetin is a natural flavonoid phytochemical that is extracted from various plants. Having an advantages due to its varied biological properties, such as anti-inflammatory, anti-viral, anti-oxidant, and anti-cancer effects, quercetin is used to treat many diseases. Recently, it has been reported that autophagy inhibition may play a key role in anti-cancer therapy. Therefore, in this study, we investigated the molecular mechanisms and anti-cancer effects of quercetin in human osteosarcoma cells via autophagy inhibition. We ascertained that quercetin inhibited cell proliferation and induced cell death, these process is demonstrated that apoptosis via the mitochondrial pathway and the caspase cascade. Quercetin also induced autophagy which was inhibited by 3-MA, autophagy inhibitor and the blockade of autophagy promoted the quercetin-induced apoptosis, confirming that autophagy is a pro-survival process. Thus, these findings demonstrate that quercetin is an effective anti-cancer agent, and the combination of quercetin and an autophagy inhibitor should enhance the effect of anti-cancer therapy.
Apoptosis* ; Autophagy* ; Cell Death ; Cell Proliferation ; Humans ; Osteosarcoma* ; Quercetin*

Bile acids and synthetic bile acid derivatives induce apoptosis in various kinds of cancer cells and thus have anticancer properties. Recently, it has been suggested that autophagy may play an important role in cancer therapy. However, few data are available regarding the role of autophagy in oral cancers and there have been no reports of autophagic cell death in OSCCs (oral squamous cell carcinoma cells) induced by HS-1200, a synthetic bile acid derivative. We thus examine whether HS-1200 modulates autophagy in OSCCs. Our findings indicate that HS-1200 has anticancer effects in OSCCs, and we observed in these cells that autophagic vacuoles were visible by monodansylcadaverine (MDC)and acridine orange staining. When we analyzed HS-1200-treated OSCC cells for the presence of biochemical markers, we observed that this treatment directly affects the conversion of LC-3II, degradation of p62/SQSTM1 and full-length beclin-1, cleavage of ATG5-12 and the activation of caspase. An autophagy inhibitor suppressed HS-1200-induced cell death in OSCCs, confirming that autophagy acts as a pro-death signal in these cells. Furthermore, HS-1200 shows anticancer activity against OSCCs via both autophagy and apoptosis. Our current findings suggest that HS-1200 may potentially contribute to oral cancer treatment and thus provide useful information for the future development of a new therapeutic agent.
Acridine Orange ; Apoptosis ; Autophagy ; Bile ; Bile Acids and Salts ; Biomarkers ; Cadaverine ; Carcinoma, Squamous Cell ; Cell Death ; Chenodeoxycholic Acid ; Mouth Neoplasms ; Vacuoles

Chios Gum Mastic (CGM) is a natural resin extracted from the leaves of Pistacia lentiscus, a plant endemic to the Greek island of Chios. It has been used by traditional healers, and it has antibacterial, antifungal properties, and therapeutic benefits for the skin. The CGM reduces the formation of dental plaque and bacterial growth in oral saliva, and recent studies have demonstrated the role of antioxidant activity of CGM. Although CGM has been widely investigated, its protective effect against oxidative-damage to keratinocytes, as well as the relationship between CGM and autophagy, has not been investigated. The aim of this study was to assess the protective effect of CGM against H2O2-induced oxidative stress and to evaluate the autophagic features induced by CGM in human keratinocytes. The pretreatment with CGM significantly reduced apoptosis in H2O2-exposed HaCaT cells. It promoted the degradation of caspase-3, caspase-8, and caspase-9; and it induced the formation of the processed PARP. The treatment with CGM caused an increase in vesicle formation compared to control group. The level of p62 was reduced and the conversion of LC3-I to LC3-II was increased in CGM treated HaCaT cells. Also, the treatment with CGM increased cleavage of ATG5-ATG12 complex. In summary, CGM helps the cells to survive under stressful conditions by preventing apoptosis and enhancing autophagy. Besides, the present investigation provides evidence to support the antioxidant potential of CGM in vitro and opens up a new horizon for future experiments.
Apoptosis ; Autophagy* ; Caspase 3 ; Caspase 8 ; Caspase 9 ; Dental Plaque ; Gingiva* ; Humans ; Keratinocytes ; Oxidative Stress* ; Pistacia ; Plants ; Saliva ; Skin

The basal cell nevus syndrome is a well recognized entity, the major symptoms of which are basal cell nevi, multiple jaw cysts, skeletal anomalies, and ectopic calcification. The syndrome follows a hereditary pattern, which is characterized by a highly penetrant, autosomal dominant gene with multiple and variable effects. The patient often has a characteristic face, with frontal and temporoparietal bossing, which results in an increased cranial circumference. The eyes may appear widely separated, and 40 percent of patients have true ocular hypertelorism. Jaw cysts are one of the most constant features of the syndrome and are present in at least 75 percent of the patients. The cysts are odontogenic keratocysts and frequently multiple. Radiographically, the cysts in patients with basal cell nevus syndrome do not differ significantly from isolated keratocysts. The cysts in patients with this syndrome are often associated with the crowns of unerupted teeth; on radiographs they may mimic dentigerous cysts. We report a case of multiple odontogenic keratocysts associated with basal cell nevus syndrome with the literature of review.
Basal Cell Nevus Syndrome* ; Crowns ; Dentigerous Cyst ; Genes, Dominant ; Humans ; Hypertelorism ; Jaw Cysts ; Nevus ; Odontogenic Cysts* ; Tooth, Unerupted

Copy number variations at multiple chromosomal loci, including 16p11.2, have recently been implicated in the pathogenesis of autism spectrum disorder (ASD), a neurodevelopmental disease that affects 1~3% of children worldwide. The aim of this study was to investigate the roles of human genes at the 16p11.2 loci in synaptic development using Drosophila larval neuromuscular junctions (NMJ), a well-established model synapse with stereotypic innervation patterns. We conducted a preliminary genetic screen based on RNA interference in combination with the GAL4-UAS system, followed by mutational analyses. Our result indicated that disruption of klp68D, a gene closely related to human KIF22, caused ectopic innervations of axon branches forming type III boutons in muscle 13, along with less frequent re-routing of other axon branches. In addition, mutations in klp64D, of which gene product forms Kinesin-2 complex with KLP68D, led to similar targeting errors of type III axons. Mutant phenotypes were at least partially reproduced by knockdown of each gene via RNA interference. Taken together, our data suggest the roles of Kinesin-2 proteins, including KLP68D and KLP64D, in ensuring proper synaptic wiring.
Autistic Disorder ; Axons ; Child ; Drosophila* ; Genes, vif ; Humans* ; Neuromuscular Junction* ; Phenotype ; RNA Interference ; Synapses ; Autism Spectrum Disorder

BACKGROUND: The cryopreservation of red blood cells (RBCs) has not ever been applied to the clinical services in Korea. The aim of this study was designed to supply the frozen-thawed RBCs as a routine service through estimation of efficiency and safety after freezing, thawing and washing. METHODS: Fifteen fresh packed RBCs were frozen with 40 percent(wt/vol) glycerol. After frozen storage at -70degrees for at least one month, the RBCs were thawed and washed in the COBE 2991 blood cell processor. We measured the blood cell count, RBC recovery rate, K+, LDH, specific gravity, osmolarity, and the percentage of hemolysis in the supernatant after deglycerolization. Autologous transfusions were done to the four voluntary donors with deglycerolized autologous blood for clinical assessment. RESULTS: The freeze-thaw-wash recovery rate of RBC was 76.8+/-10.0%, which is not enough to pass the AABB standard. But the recovery rate was increased up to 87.0+/-2.1% with the 4 stepwise predilution technique. The supernatant plasma specific gravity, osmolarity, and K+ were 1.006+/-0.001, 292+/-3 mOsm/KgH20, and 1.1+/-0.2mEq/L, respectively. The Hb ATP and 2,3-DPG were 3.6+/-0.8nmol/g and 13.4+/-4.5nmol/g. In simulated study, the free hemoglobin was 2.8+/-1.1mg/dL and 0.4+/-0.2% of total hemoglobin. In four autologous transfusion cases, plasma haptoglobin level was 96.0+/-40.8 mg/dL (reference range 30~200 mg/dL) and urine hemoglobin was not observed after 2~6 hours later after transfusion. CONCLUSION: The results of this study indicated that technical experiences for freezing, thawing and washing were established for clinical use of frozen RBCs in Korea.
2,3-Diphosphoglycerate ; Adenosine Triphosphate ; Blood Cell Count ; Blood Cells* ; Cryopreservation ; Erythrocytes* ; Freezing ; Glycerol ; Haptoglobins ; Hemolysis ; Humans ; Korea ; Osmolar Concentration ; Plasma ; Specific Gravity ; Tissue Donors