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1.
Blood Research ; : S39-S43, 2021.
Article in English | WPRIM | ID: wpr-897352

ABSTRACT

Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current technologies used to characterize these disease-causing variants for the diagnosis of thalassemia.Understanding these molecular basis and technologies will prove to be beneficial for the accurate diagnosis of thalassemia.

2.
Blood Research ; : S39-S43, 2021.
Article in English | WPRIM | ID: wpr-889648

ABSTRACT

Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current technologies used to characterize these disease-causing variants for the diagnosis of thalassemia.Understanding these molecular basis and technologies will prove to be beneficial for the accurate diagnosis of thalassemia.

3.
Psychiatry Investigation ; : 1025-1033, 2021.
Article in English | WPRIM | ID: wpr-918733

ABSTRACT

Objective@#Advances in surface-based morphometric methods have allowed researchers to separate cortical volume into cortical thickness (CTh) and surface area (SA). Although CTh alterations in major depressive disorder (MDD) have been observed in numerous studies, few studies have described significant SA alterations. Our study aimed to measure patients’ SAs and to compare it with their CTh to examine whether SA exhibits alteration patterns that differ from those of CTh in drug-naïve patients with MDD. @*Methods@#A total of 71 drug-naïve MDD patients and 111 healthy controls underwent structural magnetic resonance imaging, and SA and CTh were analyzed between the groups. @*Results@#We found a smaller SA in the left superior occipital gyrus (L-SOG) in drug-naïve patients with MDD. In the CTh analysis, the bilateral fusiform gyrus, left middle occipital gyrus, left temporal superior gyrus, and right posterior cingulate showed thinner cortices in patients with MDD, while the CTh of the bilateral SOG, right straight gyrus, right posterior cingulate, and left lingual gyrus were increased. @*Conclusion@#Compared with the bilateral occipito-temporal changes in CTh, SA alterations in patients with MDD were confined to the L-SOG. These findings may improve our understanding of the neurobiological mechanisms of SA alteration in relation to MDD.

4.
Article in English | WPRIM | ID: wpr-739103

ABSTRACT

Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%). Among the LQTS-related genes, we detected a previously reported pathogenic variant, CACNA1C c.1552C>T, responsible for cardiac-only Timothy syndrome. Among the genes related to other cardiac diseases, a likely pathogenic variant, RYR2 c.11995A>G, was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. Comprehensive screening of genetic variants using multigene panel sequencing enables detection of genetic variants with a possible involvement in QTc interval prolongation, thus uncovering unknown molecular mechanisms underlying LQTS.


Subject(s)
Cardiomyopathy, Dilated , Heart , Heart Diseases , Humans , Long QT Syndrome , Mass Screening , Molecular Biology , Ryanodine Receptor Calcium Release Channel , Tachycardia, Ventricular
5.
Laboratory Medicine Online ; : 128-134, 2017.
Article in Korean | WPRIM | ID: wpr-110640

ABSTRACT

BACKGROUND: Pyridoxal-5'-phosphate (P5P), a coenzyme of the aspartate aminotransferase (AST) and alanine aminotransferase (ALT) reactions, is required to measure aminotransferase levels (IFCC method). However, a modified IFCC method that uses a reagent devoid of P5P is commonly used in laboratories in Korea. To determine the differences between the two methods, we compared aminotransferase levels measured by using the IFCC method and modified IFCC method. METHODS: Serum levels of AST and ALT, with and without P5P, were measured in 2,318 patients. Based on the allowable limits of performance set by the Royal College of Pathologists of Australasia (RCPA), differences between the two methods were analyzed under various conditions. RESULTS: Higher AST and ALT values were obtained by the IFCC method compared to modified IFCC method, showing significant differences between the two methods (AST, 5.8±14.2 IU/L; ALT, 2.8±6.9 IU/L) (P<0.001). Values exceeding RCPA criteria were more frequently observed in emergency orders (AST, 65.8%; ALT, 14.4%) than in routine orders (AST, 3.2%; ALT, 9.6%), as well as in inpatient wards (AST, 70.4%; ALT, 18.5%) compared to outpatient clinics (AST, 56.6%; ALT, 10.0%). However, the differences between the two methods were not significant among the disease groups, except for the acute myocardial infarction group. CONCLUSIONS: The method using reagents without P5P underestimated aminotransferase activity. The effect of P5P was more significant in patients with acute myocardial infarction, considered as P5P-deficient. In conclusion, the IFCC method with P5P should be applied for measuring AST and ALT serum levels.


Subject(s)
Alanine Transaminase , Ambulatory Care Facilities , Aspartate Aminotransferases , Australasia , Emergencies , Humans , Indicators and Reagents , Inpatients , Korea , Liver Function Tests , Methods , Myocardial Infarction , Pyridoxal Phosphate
7.
Article in Korean | WPRIM | ID: wpr-205442

ABSTRACT

BACKGROUND: Metabolic syndrome (MetS), characterized by abdominal obesity, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, high blood pressure, and high fasting glucose level, is a common risk factor for cardiovascular diseases and associated complications. We examined the relationship between the metabolic syndrome and risk of chronic kidney disease (CKD) in Korean women. METHODS: We used data from 10,170 women, aged 30-89 years, who had visited a health examination center at a tertiary care hospital in 2006. The data were studied cross-sectionally. MetS was identified using the modified criteria of the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III). CKD was defined as an estimated GFR < 60 ml/min per 1.73 m2. The multivariable-adjusted (adjustment for age, education, body mass index (BMI), alcohol drinking, smoking, previous coronary heart disease, menopauses and physical inactivity) odds ratio of CKD (95% CI) associated with each component of the metabolic syndrome was calculated using the logistic regression models. RESULTS: A total of 1,039 participants have MetS. The multivariable-adjusted odds ratios (OR) of CKD in participants with MetS, hypertriglyceridemia and high blood pressure compared with participants without such factors were 2.68 (95% CI, 1.77-4.06), 1.96 (95% CI, 1.34-2.88), and 2.00 (95% CI, 1.38-2.89). Compared with the participants with no MetS traits, those with one, two, equal to or more than three traits of MetS had OR of CKD of 1.24 (95% CI, 0.75-2.06), 1.56 (95% CI, 0.89-2.75), and 2.18 (95% CI, 1.21-3.93), respectively. CONCLUSION: We found that Korean women with MetS had an increased risk for developing CKD. Finally, earlier identification and management of MetS might improve patient health and prevent progression of CKD.


Subject(s)
Adult , Aged , Alcohol Drinking , Body Mass Index , Cardiovascular Diseases , Cholesterol , Coronary Disease , Fasting , Female , Glomerular Filtration Rate , Glucose , Humans , Hypertension , Hypertriglyceridemia , Lipoproteins , Logistic Models , Obesity, Abdominal , Odds Ratio , Renal Insufficiency, Chronic , Risk Factors , Smoke , Smoking , Tertiary Healthcare
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