Congenital myotonic dystrophy is an inherited, autosomal dominant disease that results in a progressive wasting of the skeletal muscle, and sometimes heart and smooth muscles in human. In the newborn period, an affected infant is profoundly weak, has difficulty in sucking and swallowing, and may have severe respiratory difficulties. Myotonia is not a feature of the condition at this stage. Motor development is usually delayed in these children, and they may show some signs of mental retardation. Generally, the condition improves through the early years but deteriorates during late childhood and adolescence, when the 'adult' features of the disease gradually emerge. The gene defect responsible for myotonic dystrophy has proved to be a region of unstable fragment of DNA on chromosome 19. An expansion of a CTG(cytosinethymine-guanine) repeat in the 3'-untranslated region of a protein kinase gene contributes to the development of myotonic dystrophy. We have diagnosed and experienced a case of congenital myotonic dystrophy in a neonate with the chief complaint of respiratory difficulty and apnea. So we report the case and the brief review of related literatures.
Adolescent ; Apnea ; Child ; Chromosomes, Human, Pair 19 ; Deglutition ; DNA ; Heart ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; Molecular Biology* ; Muscle, Skeletal ; Muscle, Smooth ; Myotonia ; Myotonic Dystrophy* ; Protein Kinases

Normal gingival fibroblasts functioning is fundamental for the maintenance of periodontal connective tissue as well as wound healing. Nicotine have been found to affect DNA synthesis and cell proliferation, which appear to depend on the type of cells. This in vitro study was done to determine the effects of nicotine, a major component of tobacco, on cell proliferation, viability, activity, cell cycle distribution, and expression of cell cycle regulatory proteins in human gingival fibroblasts. Nicotine has been tested for 2 days or 4 days in 5 different concentrations; 0.1 microgram/ml; 1 microgram/ml; 10 microgram/ml; 100 microgram/ml; 1000 microgram/ml. To assess cell proliferation and viability, viable and non-viable cells were counted by hemocytometer; to evaluate cellular activity, MTT assay was employed; to analyze cell cycle distribution, fluorescent propidium iodide-DNA complex were measured using fluorocytometer; to determine the expression of cell cycle regulatory proteins, western blot analysis was performed. After 2 days and 4 days incubation respectively, at concentrations of 1 microgram/ml - 1000 microgram/ml, nicotine significantly inhibited proliferation comparing to non-supplemented controls. The cell viability was significantly decreased after 2 days and 4 days at concentrations of 1 microgram/ml - 1000 microgram/ml and at 10 microgram/ml - 1000 microgram/ml respectively. After 2 days and 4 days, the cellular activity was significantly decreased at concentrations of 10 microgram/ml - 1000 microgram/ml. Treatment with 100 microgram/ml nicotine for 48 hours caused an increase in the proportion of G1-phase cells (from 46.41% to 53.46%) and a decrease in the proportion of S-phase cells (from 17.80% to 14.27%). The levels of cyclin D1 and CDK 4 proteins in nicotine-treated fibroblasts were lower than that of controls, whereas the levels of p16 and pRB were higher than that of controls. These results suggest that the decrease of cell proliferation and lengthened Gap phases (G1) by nicotine may due to the increased expression of p16 and pRB as well as decreased expression of cyclin D1 and CDK 4 in human gingival fibroblasts.
Blotting, Western ; Cell Cycle Proteins* ; Cell Cycle* ; Cell Proliferation ; Cell Survival ; Connective Tissue ; Cyclin D ; Cyclin D1 ; DNA ; Fibroblasts* ; Humans* ; Nicotine* ; Propidium ; Tobacco ; Wound Healing

The ultimate goal of periodontal therapy is the regeneration of periodontal tissue and the repair of function. For more than a decade there have been many efforts to develop ma- terials and methods of treatment to promote periodontal tissue regeneration. Recently many efforts are concentrated on the regeneration potential of material used in traditional medicine. Safflower(Carthamus tinctorius L.) seed extract(SSE) have long clinically used in Korea to promote bone formation and prevent osteoporosis. The purpose of this study was to examine the effects of SSE on bone formation in human osteoblastic cell line. Human fetal osteoblastic cell line(hFOB 1.19) was cultured with DMEM and SSE(1microgram/ml, 10microgram/ml, 100microgram/ml, 1mg/ml) at 34degrees C with 5% CO2 in 100% humidity. The proliferation, differentiation of the cell was evaluated by several experiments. Cell proliferation was significantly increased at 10microgram/ml, 100microgram/ml, 1mg/ml of SSE after 3 and 7 days incubation(p<0.05). Cell spreading assay was significantly increased at 100microgram/ml of SSE after 3 days and 1microgram/ml, 10microgram/ml, 100microgram/ml, 1mg/ml of SSE after 7 days(p<0.05). Alkaline Phosphatase(ALP) level was significantly increased in 10microgram/ml, 100microgram/ml of SSE(p<0.05). Collagen synthesis was significantly increased at 10microgram/ml, 100microgram/ml, 1mg/ml of SSE(p<0.05). A quantified calcium accumulation was significantly increased at 10microgram/ml, 100microgram/ml of SSE(p<0.05). ALP and osteocalcin mRNA was expressed in 100microgram/ml of SSE by RT-PCR. These results indicate that SSE are capable of increasing osteoblasts mineralization and may play an important role in bone formation.
Calcium ; Carthamus tinctorius* ; Cell Line ; Cell Proliferation ; Collagen ; Humans ; Humidity ; Korea ; Medicine, Traditional ; Osteoblasts ; Osteocalcin ; Osteogenesis* ; Osteoporosis ; Regeneration ; RNA, Messenger

The objectives of this study were to characterize the alterations of 3p and 9p in sporadic renal cell carcinomas (RCC) and to assess the relationship between the clinical stages or tumor size and the alteration of these chromosomes. Thirty eight archival, paraffin embedded tissue sections from 38 patients with RCC were analyzed for loss of heterozygosity (LOH) at 3p and 9p with 11 microsatellite markers. LOH was detected in 81.6% (31/38) and 37.8% (14/37) at 3p and 9p, respectively. The frequencies of LOH at VHL and FHIT locus were 75.6% and 72.2%, respectively. Twelve cases out of 38 showed LOH at both 9p21 and 3p. The loss of 3p in the samples tested was not related to clinical stages and tumor size, but that of 9p21 was significantly associated with advanced stage and larger tumor size. These results support that 3p deletion, including VHL and FHIT gene, play a critical role in the tumorigenesis of sporadic RCC, especially at early stage, and that 9p21 may contribute to the progression of sporadic RCC.
Carcinogenesis ; Carcinoma, Renal Cell* ; Humans ; Loss of Heterozygosity* ; Microsatellite Repeats ; Paraffin

No abstract available.
Bone Regeneration ; Calcium* ; Heterografts ; Humans* ; Osteoblasts* ; Osteogenesis*