Myoung Hee Park

Characteristics of diet patterns in metabolically obese, normal weight adults (Korean National Health and Nutrition Examination Survey III, 2005).

BACKGROUND AND AIMSnMetabolically obese normal weight (MONW) subjects are a subgroup of individuals who have a normal weight and body mass index (BMI), but exhibit obesity-related abnormalities. The objective of this study was to analyze the prevalence of metabolic syndrome (MetS) and characteristics of diet patterns in MONW Koreans.nnnMETHODS AND RESULTSnWe analyzed the data of 3050 adults > 20 years of age with a normal BMI (18.5~24.9 kg/m(2)) obtained from the Korea National Health and Nutrition Examination Survey III. Anthropometric measurements and information on health behaviors were obtained. The diagnostic criteria for MetS were defined by the International Diabetes Federation consensus. Dietary intake was assessed by the 24-h recall method. The weighted prevalence of MONW was 14.3%. The risk of MONW correlated inversely with the frequency of snacking and positively with the type of snack, particularly those with high carbohydrates. A high carbohydrate diet (≥73.9% of energy intake) compared to a low carbohydrate diet (<59.9% of energy intake) was positively associated with the risk of MONW (OR = 2.54; 95% CI: 1.41, 4.56), whereas a high protein diet (≥17.1% of energy intake) compared to a low protein diet (<12.2% of energy intake) reduced the risk of MONW (OR = 0.60; 95% CI: 0.39, 0.92) in females, but not in males.nnnCONCLUSIONSnThis study suggests that a reduced intake of carbohydrates and carbohydrate snacks were associated with a lower prevalence of MONW in females.

Associations between the HLA-A polymorphism and the clinical manifestations of Behcet's disease.

IntroductionThe objective was to investigate associations between the HLA-A gene and Behcets disease (BD) and its clinical manifestations.MethodsGenotyping for the HLA-A locus was performed using the polymerase chain reaction-Luminex typing method in 223 BD patients and 1,398 healthy controls.ResultsThe phenotypic frequencies of HLA-A*02:07 (odds ratio (OR) = 2.03, P = 0.002), A*26:01 (OR = 1.85, P = 0.008), and A*30:04 (OR = 2.51, P = 0.006) tended to be higher in BD patients than in normal controls, but the frequency of A*33:03 (OR = 0.59, P = 0.003) tended to be lower in BD patients. A meta-analysis adopting our and the Japanese data confirmed the associations of HLA-A*02:07, A*26:01, and A*33:03 with BD. Furthermore, the frequencies of the HLA-A*02:07, A*26:01, and A*30:04 were significantly higher in patients with skin lesions (OR = 2.37, P < 0.0005, Pc < 0.012) and arthritis (OR = 2.32, P = 0.002, Pc = 0.048), with uveitis (OR = 3.01, P < 0.0005, Pc < 0.012), and with vascular lesions (OR = 9.80, P < 0.0005, Pc < 0.012) and a positive pathergy test (OR = 4.10, P = 0.002, Pc = 0.048), respectively, than in controls. In HLA-B*51 non-carriers, these associations were also significant, being much stronger between HLA-A*26:01 and uveitis (OR = 4.19, P < 0.0005, Pc < 0.012) and between HLA-A*30:04 and vascular lesions (OR = 13.97, P < 0.00005, Pc < 0.0012). In addition, HLA-A*30:04 was associated with genital ulcers in HLA-B*51 non-carriers (OR = 3.89, P = 0.002, Pc = 0.048).ConclusionsHLA-A*02:07, A*26:01, and A*30:04 were associated with increased risk for BD, while HLA-A*33:03 with decreased risk. HLA-A*02:07, A*26:01, and A*30:04 were associated with skin lesions and arthritis, with uveitis, and with vascular lesions, genital ulcers, and a positive pathergy test, respectively.

PAX5 deletion is common and concurrently occurs with CDKN2A deletion in B-lineage acute lymphoblastic leukemia

The PAX5 is essential in normal B-cell lymphopoiesis and deregulation of PAX5 function is believed to contribute to leukemogenesis in B-ALL. We performed a comprehensive study using FISH, G-banding and IHC to identify PAX5 deletion and expression in 102 CD19+ clinical B-ALL cases (79 children and 33 adults) and investigated its relationship with common cytogenetic changes including BCR-ABL1, ETV6-RUNX1 and MLL rearrangements, and CDKN2A deletion. The incidences of translocations and deletions were 2.5% and 10.0% in children, and 0.0% and 18.2% in adults, respectively. The incidence of PAX5 deletion was higher than those of BCR-ABL1 (8.9%) or MLL rearrangements (5.1%) in children and than that of MLL rearrangement (3.1%) in adults. Most patients with PAX5 deletion (83.3% of children and 100.0% of adults with PAX5 deletion) had concurrent CDKN2A deletion. PAX5 deletions were detected both in patients with positive and negative PAX5 expression. In this study, we found that PAX5 is a common target in leukemogenesis of B-ALL along with CDKN2A. Owing to its frequent deletion in B-ALL, PAX5 could be used as one of the molecular markers in diagnosis and monitoring of the disease. No correlation between expression of PAX5 and deletion of PAX5 suggests allele-specific regulation.

Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.

Autoreactive cytotoxic T cells play a key role in the pathogenesis of aplastic anemia (AA) by myelosuppressive cytokines including interferon-gamma, tumor necrosis factor alpha, and transforming growth factor beta. The purpose of this study is to determine which single nucleotide polymorphisms (SNPs) in cytokine genes were relevant to AA risk and whether the relevant SNPs were associated with response to immunosuppressive therapy (IST). Among 84 screened patients, 80 patients confirmed as having acquired AA, and 84 age- and sex-matched healthy controls were analyzed consecutively. We genotyped ten polymorphisms in three cytokine genes (IFNG, TNF, and TGFB1) and FAS gene. We assessed the association between polymorphisms and AA risk, and the association between polymorphisms and response to IST in three genetic models (dominant, recessive, and additive). The IFNG −2,353 T allele (dominant model, ORu2009=u20090.43, pu2009=u2009.012) and TCA haplotype (dominant model, ORu2009=u20090.50, pu2009=u2009.038) were significantly associated with the development of AA. In addition, this relevant IFNG −2,353 T allele and TCA haplotype were related to the response of IST (dominant model, ORu2009=u20090.076, pu2009=u2009.034). Concerning TGFB1, although its polymorphisms are not related to AA susceptibility, P10L T allele (recessive model, ORu2009=u20090.18, pu2009=u2009.038) and CT haplotype (dominant model, ORu2009=u20095.68, pu2009=u2009.038) were associated with response to IST. This exploratory study concurred with prior studies indicating that polymorphisms in IFNG are related to AA susceptibility. In addition, it was found that polymorphisms in IFNG and TGFB1 are associated with response to IST.

Hypoplastic myelodysplastic syndrome (h-MDS) is a distinctive clinical entity with poorer prognosis and frequent karyotypic and FISH abnormalities compared to aplastic anemia (AA)

The aims of the present study are two-fold: (1) to define the clinical features of hypoplastic myelodysplastic syndrome (h-MDS) in comparison with aplastic anemia (AA) and (2) to evaluate the prognostic roles of karyotyping and fluorescent in situ hybridization (FISH) in these hypoplastic marrow syndromes. Based on a medical record review at Seoul National University Hospital, the records of 409 patients diagnosed with either h-MDS or AA were evaluated. Of these patients, 358 had been diagnosed with AA and 51 with h-MDS (median age, 39 years). At diagnosis, 235 and 165 patients underwent karyotyping and FISH analysis, respectively. Karyotypic abnormalities and trisomy 8 and trisomy 1q FISH abnormalities were found more frequently in h-MDS patients than in AA patients. Median overall survival (OS) of h-MDS patients was shorter than that of AA patients (83 vs. 201 months, P=0.007), with the OS of h-MDS patients falling between that of severe and very severe AA patients. Patients with h-MDS had more frequent leukemic conversion (P<0.001) than did AA patients. In AA patients, karyotypic abnormality was not prognostic (P=0.646), while in h-MDS patients, abnormalities in trisomy 1q FISH (P=0.002) and in 20q deletion FISH (P=0.005) were predictive of poor prognosis. In conclusion, the prognosis for h-MDS patients falls between that of severe and very severe AA patients. Moreover, h-MDS is frequently accompanied by karyotypic and FISH abnormalities and is prone to leukemic conversion. Trisomy 1q and 20q deletion FISH abnormalities may have important prognostic roles in patients with h-MDS.

Genetic and non-genetic factors affecting the visual outcome of ocular Behcet’s disease

OBJECTIVEnTo examine the prognostic factors for visual outcome in Korean BD patients with uveitis.nnnMETHODSnSeventy-seven Korean BD patients with uveitis were enrolled. HLA-B and HLA-A genotypes were determined by PCR-based method. Visual acuity was measured by Snellen chart. Vision loss was graded into visual impairment (VI) defined as VA<20/40 for more than 6 months, loss of useful vision (LUV) as VA < 20/200, and near total blindness (NTB) as VA of light perception or worse.nnnRESULTSnVI was associated with a longer duration of uveitis, posterior uveitis, and cataract, LUV with male gender, a longer duration of uveitis, posterior uveitis, and cataract, and NTB with a longer duration of uveitis, cataract, and glaucoma. HLA-B*51 and HLA-A*26:01 did not show any association with VI, LUV, or NTB. However, HLA-B*51 carriers had earlier onset of uveitis and HLA-A*26:01 was strongly associated with posterior uveitis. In patients with posterior uveitis, VI was associated with a longer duration of uveitis and cataract, LUV with a longer duration, and NTB with HLA-B*51.nnnCONCLUSIONnLonger duration of uveitis, posterior uveitis, male gender, cataract, and glaucoma were found to be associated with poor visual outcome in BD-related uveitis. HLA-B*51 was associated with NTB in patients with posterior uveitis. HLA-A*26:01 showed no association with VI, LUV, or NTB, however, was strongly associated with posterior uveitis.

A 20-Year-Old Woman with Hashimoto's Thyroiditis and Evans' Syndrome

Here we report the case of a 20-year-old female patient previously diagnosed with Hashimotos thyroiditis and overt hypothyroidism, and who had been taking synthetic thyroxine (100 µg/day) for eight months. She experienced intermittent dizziness and generalized weakness, and was diagnosed as having severe autoimmune hemolytic anemia (AIHA). We prescribed prednisolone treatment and continued synthetic thyroxine administration. Two years and five months later, she developed idiopathic thrombocytopenic purpura (ITP) and was diagnosed with Evans syndrome. Thereafter, laparoscopic splenectomy was performed because her autoimmune hemolytic anemia was refractory and dependent on steroid therapy. The HLA genotypes of the patient were HLA-A*020101/A*2602, HLA-B*270502/B*5401, HLA-Cw*0102/Cw*020202, HLA-DRB1*0404/DRB1*0405, and HLA-DQB1*0302/DQB1*0401. Hashimotos thyroiditis is often associated with other nonendocrine autoimmune diseases, and antithyroid antibodies are frequently observed in Evans syndrome (coexistence of AIHA and ITP). However, there is no report of Evans syndrome developing in patients with overt hypothyroidism and Hashimotos thyroiditis. This case suggests that three autoimmune diseases (AIHA, ITP, and Hashimotos thyroiditis) might share a common immunogenetic pathway in pathogenesis.

A Case of Hyperglycemic Hyperosmolar State Associated with Graves' Hyperthyroidism: A Case Report

Hyperglycemic hyperosmolar state (HHS) is an acute complication mostly occurring in elderly type 2 diabetes mellitus (DM). Thyrotoxicosis causes dramatic increase of glycogen degradation and/or gluconeogenesis and enhances breakdown of triglycerides. Thus, in general, it augments glucose intolerance in diabetic patients. A 23-yr-old female patient with Graves disease and type 2 DM, complying with methimazole and insulin injection, had symptoms of nausea, polyuria and generalized weakness. Her serum glucose and osmolarity were 32.7 mM/L, and 321 mosm/kg, respectively. Thyroid function tests revealed that she had more aggravated hyperthyroid status; 0.01 mU/L TSH and 2.78 pM/L free T3 (reference range, 0.17-4.05, 0.31-0.62, respectively) than when she was discharged two weeks before (0.12 mU/L TSH and 1.41 pM/L free T3). Being diagnosed as HHS and refractory Graves hyperthyroidism, she was treated successfully with intravenous fluids, insulin and high doses of methimazole (90 mg daily). Here, we described the case of a woman with Graves disease and type 2 DM developing to HHS.