Glycogen storage diseases(GSD) are inherited disorders affecting glycogen metabolism and type I GSD is due to the absence or deficiency of glucose-6-phosphatase(G6Pase) enzyme in the liver, kidney, and intestinal mucosa. The defect leads to inadequate hepatic conversion of G6P to glucose and thus make affected individuals susceptible to fasting hypoglycemia, and the accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form of GSD and clinically growth retardation may manifest of GSD itself rather than growth hormone deficiency(GHD), but we experienced a case of type I GSD with GHD in a 14-year-o1d male. The height was 125 cm, compatible with 50 th percentile of height of 8 years of age. He has doll-like face with fat cheek, relatively thin extremities, and metabolic acidosis, hyperuricemia, hypoglycemia, hyperlipidemia. GH stimulation test with clonidine and L-dopa revealed that the patient had decreased GH secretion. After laboratory work up including liver biopsy, he was diagnosed as type I GSD. Hypoglycemia was managed with frequent feeding with high starch diet(uncooked cornstarch). Metabolic acidosis and hyperuricemia were treated with sodium bicarbonate, allopurinol and probenecid. The patient is being followed at out-patient clinic with clinical improvement after of diet therapy and GH administration.
Acidosis ; Allopurinol ; Biopsy ; Cheek ; Clonidine ; Diet Therapy ; Extremities ; Glucose ; Glycogen Storage Disease* ; Glycogen* ; Growth Hormone* ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Intestinal Mucosa ; Kidney ; Levodopa ; Liver ; Male ; Metabolism ; Outpatients ; Probenecid ; Sodium Bicarbonate ; Starch

OBJECTIVE: It is known that mouse embryos before implantation develop in a low oxygen environment of 3- 8% concentration and with antioxidant materials such as vitamins, antioxidant enzymes, ferrous binding proteins, and albumin in follicular and tubal fluids. However, the 20% oxygen culture condition with chemically defined media might be produce an abundance of ROS, and leads to developmental delay or developmental block in vitro. In this study, we attempt to elucidate the relationship between intracellular H2O2 production and embryo development in different oxygen culture conditions of mouse embryos. METHODS: Prenuclear embryos from C57BL/CBA Fl hybrid and ICR mouse were cultured in incubators which provided 5% carbon dioxide, 20% oxygen and 5% carbon dioxide, 5% oxygen. Measurement of H2O2 level in a embryo was performed with DCHFDA(2, 7 -dichlorodihydroflourescein diacetate)and analyzed with Quanti-cell 700, and the number of blastomeres was counted with DAPI( 4, 6'-diamidino-2-phenylindole). RESULTS: Oxygen concentration of the culture medias was significantly higher in the 20% oxygen environment compared to that of 5% oxygen environment. Culture of mice embryos in high oxygen condition leads to high HO concentrations at 2 cell stage and developmental delay or ""2-cell block"" regardless of the strain. But in a 5% oxygen environment, which is similar to in-vivo conditions HO production was suppressed continuously through out culture and development of embryos was definitely improved. CONCLUSION: These results suggest that there is a difference in the production of ROS or protective mechanism according to the mouse strains and stage of development, and it is thought that in-vitro culture in 5% oxygen environment provides stable in vivo equilibrium but in a 20% oxygen environment there is production of ROS which overcome the protective mechanism which leads to cellular damage and embryo developmental delay.
Animals ; Blastomeres ; Carbon Dioxide ; Carrier Proteins ; Culture Media ; Embryonic Development ; Embryonic Structures* ; Female ; Incubators ; Mice* ; Mice, Inbred ICR ; Oxygen* ; Pregnancy ; Vitamins

In order to observe the effects of Nicotine and NNK on cultured human gingival fibroblast, several factors were examined including mutagenicity, the number of cells attached culture plate surface through MTT test, the abundance of collagen & collagenase in mRNA level and collagenolytic activity in extracellular matrix. The results were as follows; 1. Regardless of the co-existence of S9, Nicotine did not show the mutagenicity by itself and NNK by itself showd the same result; However, dose related mutagenicity was shown in NNK with S9. 2. The number of fibroblasts attached cultured plate surface was measured by MTT procedure. The number of cells in Non-smokers increased at all time periods as compared to those of smoker. 3. Non-smoker's fibroblast treated by NNK or Nicotine was dose-dependently decreased in the number of cells when compared to untreated control. In higher dose, Nicotine showed the cellular toxicity , but NNK did not. 4. No change in the abundance of mRNA for proalpha1 and proalpha2 was shown in Nicotine treated group but in gingival fibroblasts following treatment with NNK, the abundance of mRNA for proalpha1, but not proalpha2 collagen was decreased. 5. The abundance of mRNA for collagenase was decreased when NNK was treated but no change occurred in Nicotine treated group. 6. The effect of NNK and Nicotine in collagenolytic activity showed that ,collagenase activity exclusively react to type I collagen, was increased in both group, but gelatinase exclusively react to type IV collagen was not influenced at all. Collagenase activity of smoker's fibroblast was also increased as much as Nicotine and NNK group. The findings suggest that both of Nicotine and NNK lead gingival fibroblast to decrease in the abundance of collagen. And it seems to be that Nicotine and NNK have independent pathway toward the gingival fibroblast.
Humans

Spinal muscular atrophy(SMA) is a genetic disorder of the motor neurons that cause muscular weakness and muscular atrophy due to anterior horn cell degeneration. Classic spinal muscular atrophy patient is caused by mutation in the chromosome 5(q11.2-q13.3), and the majority of the patient shows homozygous deletion of the telomeric survival motor neuron(SMN) gene in the chromosome 5. Deletion of exon 7 and 8 of the SMN gene and deletion of exon 4 and 5 of the neuronal apoptosis inhibitory protein(NAIP) are typically observed in SMA patients. The SMN protein plays a role in an essential cell metabolism process, the splicing of pre mRNA in the spliceosomes. We report a 7 month old male with SMA. He showed rapidly aggrdvatial muscular weakness and died at 7 months. His DNA analysis proved deletion of exon 7 and 8 of the telomeric copy of the SMN gene.
Anterior Horn Cells ; Apoptosis ; Chromosomes, Human, Pair 5 ; DNA ; Exons* ; Humans ; Infant ; Male ; Metabolism ; Motor Neurons* ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal* ; Neurons ; RNA Precursors ; Spliceosomes

A case of primary choroid plexus papilloma of the cerebellopontine angle with spinal leptomengeal seeding is reported, and the literature pertinent to this subject reviewed. CT scan revealed a well-demarcated elliptical homogeneousely high density lesion with definite contrast enhancement within right cerebellopontine angle, which could hardly be differentiated from that of acoustic neurinoma.
Cerebellopontine Angle* ; Choroid Plexus* ; Choroid* ; Neuroma, Acoustic ; Papilloma, Choroid Plexus* ; Tomography, X-Ray Computed

OBJECTIVE: Human papillomavirus (HPV) infection is the most important risk factor for cervical cancer, which progresses from precursor lesions with no symptom if left untreated. We compared the risk of cervical dysplasia among HPV-positive Korean women based on HPV types and infection patterns. METHODS: We observed participants of a 5-year multicenter prospective cohort study, comprising HPV-positive women with either atypical squamous cells of undetermined significance or low-grade squamous intraepithelial lesion of the cervix at their enrollment. Follow-ups, comprising cytology and HPV DNA testing results, were included in the final analysis. Incidence was calculated for each infection pattern (persistent infection, incidental infection, and clearance). To investigate cervical dysplasia risk, we used Cox proportional hazard models adjusted for variables that were significantly different among infection patterns. From April 2010 to September 2017, 71 of 1,027 subjects developed cervical dysplasia more severe than high-grade squamous intraepithelial lesion of the cervix. RESULTS: Of these 71 subjects, persistent infection, incidental infection, and clearance were noted in 30, 39, and 2 individuals, respectively. Based on changes in DNA results during follow-up, cumulative incidence was 27.2%, 10.4%, and 0.5% for persistent infection, incidental infection, and clearance, respectively. Compared to clearance, the adjusted hazard ratios for cervical dysplasia were 51.6 and 24.1 for persistent and incidental infections, respectively (p < 0.001). CONCLUSION: Individuals persistently infected with the same HPV types during the follow-up period had the highest risk of severe cervical dysplasia. Hence, it is necessary to monitor HPV types and infection patterns to prevent severe cervical precancerous lesions.
Atypical Squamous Cells of the Cervix ; Cervix Uteri ; Cohort Studies ; DNA ; Female ; Follow-Up Studies ; Human Papillomavirus DNA Tests ; Humans ; Incidence ; Korea ; Papillomavirus Infections ; Proportional Hazards Models ; Prospective Studies ; Republic of Korea ; Risk Factors ; Squamous Intraepithelial Lesions of the Cervix ; Uterine Cervical Dysplasia ; Uterine Cervical Neoplasms

Purpose: This study aimed to provide the clinical characteristics, prognostic factors, and 5-year relative survival rates of lung cancer diagnosed in 2015. Materials and Methods: The demographic risk factors of lung cancer were calculated using the KALC-R (Korean Association of Lung Cancer Registry) cohort in 2015, with survival follow-up until December 31, 2020. The 5-year relative survival rates were estimated using Ederer II methods, and the general population data used the death rate adjusted for sex and age published by the Korea Statistical Information Service from 2015 to 2020. Results: We enrolled 2,657 patients with lung cancer who were diagnosed in South Korea in 2015. Of all patients, 2,098 (79.0%) were diagnosed with non–small cell lung cancer (NSCLC) and 345 (13.0%) were diagnosed with small cell lung cancer (SCLC), respectively. Old age, poor performance status, and advanced clinical stage were independent risk factors for both NSCLC and SCLC. In addition, the 5-year relative survival rate declined with advanced stage in both NSCLC (82%, 59%, 16%, 10% as the stage progressed) and SCLC (16%, 4% as the stage progressed). In patients with stage IV adenocarcinoma, the 5-year relative survival rate was higher in the presence of epidermal growth factor receptor (EGFR) mutation (19% vs. 11%) or anaplastic lymphoma kinase (ALK) translocation (38% vs. 11%). Conclusion In this Korean nationwide survey, the 5-year relative survival rates of NSCLC were 82% at stage I, 59% at stage II, 16% at stage III, and 10% at stage IV, and the 5-year relative survival rates of SCLC were 16% in cases with limited disease, and 4% in cases with extensive disease.