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Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts

Hee Nam KIM ; Sun Seog KWEON ; Min Ho SHIN

Chonnam Medical Journal.2018;54(1):31-35. doi:10.4068/cmj.2018.54.1.31

We aimed to evaluate the prevalence of familial hypercholesterolaemia (FH) in a subject with hypercholesterolaemia from two population-based cohorts in South Korea. A total of 283 subjects with total cholesterol levels of 290 mg/dL (7.5 mmol/L) or higher were selected from the Namwon and Dong-gu Studies. We used next generation sequencing (NGS) to detect mutations in low-density lipoprotein receptors (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. We have confirmed 17 different mutations of the LDLR, APOB and PCSK9 in 23 subjects (8.1%). Eleven LDLR variants and one APOB variant have been previously reported. One LDLR and two PCSK9 rare variants were identified in the variants database, but not in the FH mutation database. Two novel LDLR variants were found, p.Leu680Val, and p.Thr734Phe. No LDLR, APOB or PCSK9 deletions nor insertions were found. When the subjects were restricted to 110 subjects with a total cholesterol ≥310 mg/dL, only 10 variants were found in the 10 subjects (9.1%). These results suggest that given the low prevalence of FH mutations in subjects with high total cholesterol levels, NGS-based testing for a population-based approach to FH detection may not be cost-effective.
Apolipoproteins ; Apolipoproteins B ; Cholesterol ; Cohort Studies ; High-Throughput Nucleotide Sequencing ; Hyperlipoproteinemia Type II ; Jeollabuk-do ; Korea ; Prevalence ; Proprotein Convertases ; Receptors, Lipoprotein

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Antidiabetic Drug Metformin Protects Neuronal Cells against Quinolinic Acid-Induced Excitotoxicity by Decreasing Intracellular Calcium

Sujeong JANG ; Sah Hoon PARK

Chonnam Medical Journal.2018;54(1):24-30. doi:10.4068/cmj.2018.54.1.24

The antidiabetic drug metformin has been found to have beneficial effects in various neurological disorders; however, the molecular mechanisms underlying these effects remain unclear. Here we report that metformin protects neuronal cells from quinolinic acid (QUIN)-induced excitotoxicity. For this, we pretreated N18D3 neuronal cells with metformin prior to QUIN for 24 h. We found that pretreating the cells with metformin significantly improved cell survival rate in a concentration-dependent manner and reduced apoptotic cell death, as revealed by a MTT assay and DAPI staining, respectively. Calcium imaging using fluo-4 showed that metformin (100 µM) inhibited the intracellular calcium increase that was induced by QUIN. In addition, mRNA expression of pro-apoptotic genes, p21 and Bax, was decreased and of anti-apoptotic genes, Bcl-2 and Bcl-xl, was increased with metformin treatment compared to QUIN-induced cells. The immunoreactivity of phosphorylated ERK1/2 was elevated in cells treated with metformin, indicating the ERK1/2 signaling pathway in the neuroprotective effects of metformin in QUIN-induced cell death. Collectively, our data demonstrates that metformin exerts its neuroprotective effects by inhibiting intracellular calcium increases, allowing it to regulate ERK1/2 signaling and modulate cell survival and death genes.
Apoptosis ; Calcium ; Cell Death ; Cell Survival ; Genes, bcl-2 ; Metformin ; Nervous System Diseases ; Neurons ; Neuroprotection ; Neuroprotective Agents ; Quinolinic Acid ; RNA, Messenger

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Salicylic Acid Reduces OmpF Expression, Rendering Salmonella enterica Serovar Typhimurium More Resistant to Cephalosporin Antibiotics

Kyung Min CHOI ; Mi Hyun KIM ; Hua CAI ; Yong Jin LEE ; Yeongjin HONG ; Phil Youl RYU

Chonnam Medical Journal.2018;54(1):17-23. doi:10.4068/cmj.2018.54.1.17

Salmonella enterica serovar Typhimurium is one of the most important bacterial pathogens causing diarrhea. The resistance of S. typhimurium to antimicrobial agents, which has recently been isolated from patients, is causing serious problems. We investigated the effects of salicylic acid (Sal) and acetyl salicylate (AcSal) on the susceptibility of S. typhimurium to cephalosporin antibiotics, which are known to increase resistance to cephalosporin and quinolone antibiotics. The MIC of cephalosporin antibiotics was higher than that of the media without Sal. The rate of accumulation of ethidium bromide (EtBr) in the bacteria by the outer membrane protein (Omp) was not different from that of the bacteria cultured in the medium containing Sal. However, Carbonyl cyanide-m-chlorophenylhydrazone (CCCP), an inhibitor of bacterial efflux pumps, significantly reduced the rate of accumulation of EtBr in bacteria cultured on Sal containing medium. In the medium containing CCCP, the MIC of the antimicrobial agent tended to decrease as compared with the control. In addition, the MIC of the bacteria treated with CCCP and Sal was higher than that of the antimicrobial agent against the CCCP treated experimental bacteria. These results suggest that Sal decreases the expression of OmpF in the Omp of S. typhimurium and reduces the permeability of cephalosporin antibiotics to bacteria, which may induce tolerance to cephalosporin antibiotics.
Anti-Bacterial Agents ; Anti-Infective Agents ; Bacteria ; Carbonyl Cyanide m-Chlorophenyl Hydrazone ; Cephalosporin Resistance ; Cephalosporins ; Diarrhea ; Ethidium ; Humans ; Membrane Proteins ; Permeability ; Salicylic Acid ; Salmonella enterica ; Salmonella typhimurium ; Salmonella ; Serogroup

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Functional Relevance of Macrophage-mediated Inflammation to Cardiac Regeneration

Yong Sook KIM ; Youngkeun AHN

Chonnam Medical Journal.2018;54(1):10-16. doi:10.4068/cmj.2018.54.1.10

Cardiovascular disease remains the leading cause of death worldwide and regenerative medicine is a promising therapeutic option for this disease. We have developed various techniques to attenuate the cardiac remodeling and to regenerate cardiovascular systems via stem cell application. Besides cell therapy, we are interested in the modulation of pathological inflammation mediated by macrophages in the damaged heart tissue to arouse endogenous reparative responses with biocompatible small molecules. Certainly, current understanding of mechanisms of tissue regeneration will lead to the development of innovative regenerative medicine for cardiovascular disease.
Cardiovascular Diseases ; Cardiovascular System ; Cause of Death ; Cell- and Tissue-Based Therapy ; Heart ; Inflammation ; Macrophages ; Regeneration ; Regenerative Medicine ; Stem Cells

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Molecular Diagnosis of Tuberculosis

Fariz NURWIDYA ; Diah HANDAYANI ; Erlina BURHAN ; Faisal YUNUS

Chonnam Medical Journal.2018;54(1):1-9. doi:10.4068/cmj.2018.54.1.1

Tuberculosis (TB) is one of the leading causes of adult death in the Asia-Pacific Region, including Indonesia. As an infectious disease caused by Mycobacterium tuberculosis (MTB), TB remains a major public health issue especially in developing nations due to the lack of adequate diagnostic testing facilities. Diagnosis of TB has entered an era of molecular detection that provides faster and more cost-effective methods to diagnose and confirm drug resistance in TB cases, meanwhile, diagnosis by conventional culture systems requires several weeks. New advances in the molecular detection of TB, including the faster and simpler nucleic acid amplification test (NAAT) and whole-genome sequencing (WGS), have resulted in a shorter time for diagnosis and, therefore, faster TB treatments. In this review, we explored the current findings on molecular diagnosis of TB and drug-resistant TB to see how this advancement could be integrated into public health systems in order to control TB.
Adult ; Communicable Diseases ; Developing Countries ; Diagnosis ; Diagnostic Tests, Routine ; Drug Resistance ; Humans ; Indonesia ; Mycobacterium tuberculosis ; Nucleic Acid Amplification Techniques ; Public Health ; Tuberculosis ; Tuberculosis, Multidrug-Resistant

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A Case of a Zotarolimus-Eluting Stent Fracture in the Left Anterior Descending Artery in a Patient Undergoing Hemodialysis

In Hye CHA ; Seong Hwan KIM ; Sang Yup LIM ; Jeong Chun AHN ; Woo Hyuk SONG

Chonnam Medical Journal.2011;47(1):57-59. doi:10.4068/cmj.2011.47.1.57

Although stent fracture after implantation of a drug-eluting stent (DES) is a rare complication, it has been suggested to be a cause of restenosis. To date, most DES fractures have been associated with sirolimus-eluting stents. We describe here a case of a zotarolimus-eluting stent fracture after 8 months of stent placement in a calcified left anterior descending artery lesion in a patient undergoing hemodialysis.
Arteries ; Drug-Eluting Stents ; Humans ; Renal Dialysis ; Stents

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Masking of Pressure Overload in a Patient with Pulmonary Thromboembolism Accompanied by Atrial Septal Aneurysm

Tae Kyung YU ; Woo Shik KIM ; Weon KIM

Chonnam Medical Journal.2011;47(1):54-56. doi:10.4068/cmj.2011.47.1.54

A pulmonary thromboembolism (PTE) causes a dramatic pressure overload to the right heart. Previous case reports have shown that elevated right atrial pressure secondary to a PTE can cause right-to-left shunting in the presence of an atrial septal aneurysm (ASA). A 57-year-old female with diabetes, hypertension, and an old cerebral infarction was admitted to our hospital with acute PTE. Initial transthoracic echocardiography (TTE) showed an ASA swing from the right side to the left side, and right-to-left shunting was detected immediately in the agitated saline test. However, definite signs of pressure overload of the right heart were not detected in the TTE. This educational case shows that right-to-left shunting via a patent foramen ovale in the ASA can cause normal right atrial pressure, thus masking the pressure overload of the right heart in a patient with PTE.
Aneurysm ; Atrial Pressure ; Cerebral Infarction ; Dihydroergotamine ; Echocardiography ; Female ; Foramen Ovale, Patent ; Heart ; Humans ; Hypertension ; Masks ; Middle Aged ; Pulmonary Embolism

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Pure Red Cell Aplasia Caused by Acute Hepatitis A

Tae Heon LEE ; Suk Joong OH ; Soojung HONG ; Kyu Bek LEE ; Hyosoon PARK ; Hee Yeon WOO

Chonnam Medical Journal.2011;47(1):51-53. doi:10.4068/cmj.2011.47.1.51

Pure red cell aplasia is characterized as a normocytic anemia associated with reticulocytopenia and the absence of erythroblasts in the bone marrow. Pure red cell aplasia can be induced by various causes such as thymoma, connective tissue disease, viral infection, lymphoma, and adverse drug reactions. There have been only a few reports of pure red cell aplasia associated with acute viral hepatitis A. In Korea, no case of pure red cell aplasia caused by acute hepatitis A has yet been reported. We recently experienced a case of acute viral hepatitis A complicated by pure red cell aplasia. The patient was successfully treated with corticosteroids. Here we report this case and review the literature.
Acute Kidney Injury ; Adrenal Cortex Hormones ; Anemia ; Bone Marrow ; Connective Tissue Diseases ; Drug Toxicity ; Erythroblasts ; Hepatitis ; Hepatitis A ; Humans ; Korea ; Lymphoma ; Red-Cell Aplasia, Pure ; Thymoma

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A Case of a False-Positive Anti-Myeloperoxidase Antibody ELISA in a Patient with Hypothyroidism

Mi Kyung JIN ; Kwan Yong SEO ; Jin Young KANG ; Ji Young CHOI ; Se Hee YOON ; Yong Lim KIM ; Dong Il WON ; Sun Hee PARK

Chonnam Medical Journal.2011;47(1):48-50. doi:10.4068/cmj.2011.47.1.48

We present a case of a false-positive anti-myeloperoxidase (MPO) antibody result on an ELISA in a patient with anti-thyroid microsomal antibody (TMA)-positive hypothyroidism. A 41-year-old woman presented with dyspnea on exertion. The initial evaluation revealed pericardial effusion associated with hypothyroidism. In addition, microscopic hematuria with normal renal function and positive cytoplasmic anti-neutrophil cytoplasmic antibodies (c-ANCA) on immunofluorescent assay were found. In further evaluation, elevated anti-TMA and MPO antibodies by ELISA. While no definite signs of vasculitis were present, the clinical state improved with thyroid hormone replacement and diuretics. Anti-MPO antibody was still positive in the follow-up tests, and microscopic hematuria persisted. On the basis of previous reports that thyroid peroxidase and MPO molecules contain cross-reactive epitopes that are exposed in denaturated molecules, we suggest that in a patient with anti-TMA-positive hypothyroidism, anti-MPO antibody might also be positive on ELISA without clinical signs of vasculitis.
Adult ; Antibodies ; Antibodies, Antineutrophil Cytoplasmic ; Cytoplasm ; Diuretics ; Dyspnea ; Enzyme-Linked Immunosorbent Assay ; Epitopes ; Female ; Follow-Up Studies ; Hematuria ; Humans ; Hypothyroidism ; Iodide Peroxidase ; Pericardial Effusion ; Thyroid Gland ; Vasculitis

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Cerebellar Embolization in Patients with Heart Murmur

Min Goo LEE ; Jong Chun PARK ; Byoung Hee AHN ; Myung Ho JEONG

Chonnam Medical Journal.2011;47(1):45-47. doi:10.4068/cmj.2011.47.1.45

A 76-year-old female present to the emergency department with dysarthria, dizziness, dyspnea. The patient had hypertension and atrial fibrillation. Brain MRI revealed right cerebellar infarction. Transthoracic echocardiography showed a large round mass in the left atrium. Transesophageal echocardiography showed large complex echogenic round mass lesion attached on left atrial side of interatrial septum. Coronary angiogram revealed round movable mass lesion in left atrium with feeding arteries originated from right coronary artery. She underwent removal of mass and Maze operation, and pathologic finding was compatible with myxoma.
Aged ; Arteries ; Atrial Fibrillation ; Brain ; Coronary Vessels ; Dizziness ; Dysarthria ; Dyspnea ; Echocardiography ; Echocardiography, Transesophageal ; Emergencies ; Female ; Heart ; Heart Atria ; Heart Murmurs ; Humans ; Hypertension ; Infarction ; Myxoma

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