Association of lipoprotein lipase (LPL) single nucleotide polymorphisms with type 2 diabetes mellitus

The etiology and pathogenesis of type 2 diabetes mellitus (T2DM) are not completely understood although it is often associated with other conditions such as obesity, hypertension, and dyslipidemia. Lipoprotein lipase (LPL) is a key enzyme in human lipid metabolism that facilitates the removal of triglyceride-rich lipoproteins from the bloodstream. LPL hydrolyzes the core of triglyceride-rich lipoproteins (chylomicrons and very low density lipoprotein) into free fatty acids and monoacylglycerol. To gain insight into the possible role of LPL in T2DM, nine single nucleotide polymorphisms (SNPs) of LPL were analyzed for the association with T2DM using 944 unrelated Koreans, including 474 T2DM subjects and 470 normal healthy controls. Of the nine LPL SNPs we analyzed, a significant association with multiple tests by the false discovery rate (FDR) was observed between T2DM and SNP rs343 (+13836C>A in intron 3). SNP rs343 was also marginally associated with some of T2DM-related phenotypes including total cholesterol, high density lipoprotein cholesterol (HDLc), and log transformed glycosylated hemoglobin in 470 normal controls, although no significant association was detected by multiple tests. In total, our results suggest that the control of lipid level by LPL in the bloodstream might be an important factor in T2DM pathogenesis in the Korean population.

High Frequencies of the CCR2b-64I and SDF1-3'A Mutations with HIV Infection in Koreans

BACKGROUND: Host genetic polymorphisms in the HIV-1 co-receptor CCR5 and CCR2b and SDF-1, ligand for co-receptor CXCR4, have been known to be associated with the resistance of HIV infection and/or the delayed disease progression in HIV-infected patients. METHODS: We examined the frequencies of SDF1-3'A and CCR2b-64I alleles of 354 Koreans including 100 HIV-uninfected persons, 13 discordant spouses of HIV-infected persons, and 241 HIV-infected persons. The genotyping assays of SDF1 and CCR2b genes were carried out by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The frequencies of CCR2b-64I and SDF1-3'A alleles in Koreans were very high compared with Caucasians and blacks. Observed frequencies of CCR2b-64I and SDF1-3'A allelic variants were 25.1% and 28.7%, respectively. The frequency of the CCR2b-64I allele in Koreans was 2~4 times higher than those of other ethnic groups with the exception of Asian. The frequencies of CCR2b-64I and SDF1- 3'A genotypes did not show the significant difference between HIV-infected and uninfected Koreans. However, the prevalence of CCR2b-64I genotype of the LTNP group was about two times higher than that of the remainder group (P < 0.05). Four (45%) out of 9 LTNPs (long-term nonprogressors) showed having the SDF1-3'A allele and 7 (78%) out of 9 LTNPs carried the CCR2b-64I allele. 3 (33%) out of 9 LTNPs had both SDF1-3'A and CCR2b-64I alleles. But none of 5 RPs (rapid progressors) appeared to have both SDF1-3'A and CCR2b-64I alleles. CONCLUSION: The different genetic backgrounds in study populations may affect the disease progression and the AIDS epidemic in each country. Further studies need to define whether high frequencies of CCR2b-64I and SDF1-3'A allelic variants may affect the HIV disease progression.

A Case of Impetigo Herpetiformis during Pregnancy / 대한산부인과학회잡지

Impetigo herpetiformis is a rare pustular eruption that may be seen in late pregnancy. It is associated with severe maternal and fetal complications in case of misdiagnosis and delayed treatment. The patient was a 25-years-old multigravida with psoriasis in her past history. At 20weeks gestation, she had been developed erythematous scaly annular patchs with papules and pustules on inner thigh. At 37weeks' gestation, the patient was suffered from a severely pruritic pustular rash with fever and leukocytosis. The skin of the affected areas was biopsied and showed intraepidermal pustular abscess with a neutrophilic infiltrate. Treatment commenced with intravenous fluids, antibiotics, systemic prednisone, steroid creams, and phototherapy(UVB) under the careful fetal well being monitoring. Cesarean section was done due to fetal distress, and a normal healthy male infant was delivered, following which the patient's condition improved rapidly.

Calcified Chronic Subdural Hematoma Associated with Arachnoid Cyst

The authors report a case of calcified chronic subdural hematoma with arachnoid cyst. A 45-year-old man had a 30-year history of epilepsy. Brain CT revealed lentiform calcified mass lesion with a cyst on the right temporal lobe, and an osteoplastic craniotomy was performed. The mass contained a clay-like substance with shiny crystal. And microscopically, a thick fibrous membrane with a band of calcification was seen.Postoperatively, the frequency of epolepsy decreased. To the author's knowledge, this is the first report to document calcified chronic subdural hematoma associated with arachnoid cyst.