Adult ; Aged ; Carcinoma, Hepatocellular ; blood ; diagnosis ; Case-Control Studies ; Cystatin B ; blood ; Female ; Humans ; Liver Neoplasms ; blood ; diagnosis ; Male ; Middle Aged

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments. We report the first case of a genetically confirmed patient with ULD in Korea.
Blotting, Southern ; Cystatin B ; Cysteine Proteases ; Diagnosis* ; Europe ; Fathers ; Heterozygote ; Humans ; Korea* ; Mothers ; Myoclonic Epilepsies, Progressive ; Myoclonus ; Prevalence ; Seizures ; Unverricht-Lundborg Syndrome*

BACKGROUND AND OBJECTIVES: The relationship between short-term hypothyroidism due to levothyroxine (LT4) withdrawal for radioactive iodine (RI) therapy in patients with differentiated thyroid cancer (DTC) and risk of cardiovascular disease is not clear. In this study, we evaluated the impact of short-term overt hypothyroidism on lipid profiles and cardiovascular parameters in patients with DTC. MATERIALS AND METHODS: We recruited 195 patients with DTC who were preparing RI therapy from March 2008 to February 2012. We analyzed the effect of thyroid stimulating hormone (TSH) level on the clinical, biochemical, and cardiovascular risk markers at the end of LT4 withdrawal protocol (P2). RESULTS: After LT4 withdrawal (P2), TSH and total cholesterol (TC) levels were significantly increased (p<0.005). After adjustment for multiple factors such as age, sex, body mass index (BMI), hypertension and diabetes mellitus (DM), the positive relationship between TSH and TC remained significant (p=0.04). Mean levels of homocysteine, low density lipoprotein-cholesterol, triglyceride were increased. However, levels of high density lipoprotein-cholesterol, cystatin C, C-reactive protein, apolipoprotein B (ApoB), apolipoprotein A1 (Apo A1), lipoprotein (a) (Lp[a]), aspartate transaminase, alanine aminotransferase, total bilirubin, uric acid remained within normal range. Splitting the whole cohort into the three different age groups, serum Apo B, Lp(a) levels and BMI increased with increasing age (p<0.05). And splitting into three different TSH level groups (1st group; <79 microIU/mL, 2nd group; 79-121 microIU/mL, 3rd group; >121 microIU/mL), all values did not have a statistical significant meaning except Apo A1. CONCLUSION: Short-term hypothyroidism induced worsening of lipid metabolic parameters, but not enough to induce the cardiovascular risk in patients with thyroid cancer.
Alanine Transaminase ; Apolipoprotein A-I ; Apolipoproteins ; Apolipoproteins B ; Aspartate Aminotransferases ; Bilirubin ; Body Mass Index ; C-Reactive Protein ; Cardiovascular Diseases ; Cholesterol ; Cohort Studies ; Cystatin C ; Diabetes Mellitus ; Homocysteine ; Humans ; Hypertension ; Hypothyroidism ; Iodine* ; Lipoprotein(a) ; Reference Values ; Thyroid Neoplasms ; Thyrotropin ; Thyroxine ; Triglycerides ; Uric Acid

<b>OBJECTIVEb>To investigate the in vivo inhibition of extract of Fructus lycii (FL) on the expressions of cathepsin B (Cat B) and cystatin C (Cys C) in high-fat diet and hydroquinone (HQ) induced model mice with age-related macular degeneration (AMD), and to explore the in vitro effects of lutein and zeaxanthin on hydrogen peroxide (H2O2,) induced expressions of matrix metalloproteinase 2 (MMP-2) and tissue inhibitor of metalloproteinase 2 (TIMP-2) on ARPE-19 cells.

<b>METHODSb>Fifty female 8-month-old C57BL/6 mice were recruited in this research. Ten mice fed with regular diet was taken as the age control group. The rest 40 mice were fed with high fat diet for 6 months, followed by adding HQ (0. 8%) in the drinking water for 3 consecutive months. Then the modeled mice were randomly divided into the model control group (n =10), the high (at the daily dose of 3.75 g/kg), middle (at the daily dose of 2.50 g/kg), and low dose (at the daily dose of 1.25 g/kg) FL groups, 10 in each group. The extract of FL at each dose was respectively administered to mice by gastrogavage for 3 successive months. By the end of the experiment, the mice were killed and their eyeballs were removed. The protein expressions of Cat B and Cys C were observed by immunohistochemical assay. The mRNA and protein expressions of Cat B and Cys C were detected by real-time PCR and Western blot respectively. The drug concentrations of H2O2, lutein, and zeaxanthin were screened and detected using the activity of cell proliferation. The protein expressions of MMP-2 and TIMP-2 were detected using Western blot.

<b>RESULTSb>Compared with the age control group, the mRNA and protein expressions of Cat B and Cys C were significantly higher in the in vivo model control group (P <0.05, P <0.01). The mRNA expressions of Cat B and Cys C were weaker in the middle and high dose FL groups than in the model control group (P <0. 05, P <0. 01). In in vitro cells, lutein and zeaxanthin could down-regulate the protein expressions of MMP-2 and TIMP-2 in H202 induced ARPE-19 cells (P <0. 05, P <0. 01).

<b>CONCLUSIONSb>Extract of FL could down-regulate the high protein expressions of Cat B and Cys C in high-fat diet and HQ induced model mice. Lutein and zeaxanthin could down-regulate the protein expressions of MMP-2 and TIMP-2 in H202 induced ARPE-19 cells.

Animals ; Cathepsin B ; metabolism ; Cystatin C ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; Female ; Hydrogen Peroxide ; Lutein ; pharmacology ; Macular Degeneration ; prevention & control ; Matrix Metalloproteinase 2 ; metabolism ; Mice ; Mice, Inbred C57BL ; Pigment Epithelium of Eye ; drug effects ; metabolism ; Tissue Inhibitor of Metalloproteinase-2 ; metabolism ; Xanthophylls ; pharmacology ; Zeaxanthins