1.Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients
Jee-won MOK ; Ha-rim SO ; Min-ji HA ; Kyung-sun NA ; Choun-ki JOO
Korean Journal of Ophthalmology 2021;35(2):120-129
Purpose:
To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods:
Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results:
In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions
Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.
2.Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus Patients
Jee-won MOK ; Ha-rim SO ; Min-ji HA ; Kyung-sun NA ; Choun-ki JOO
Korean Journal of Ophthalmology 2021;35(2):120-129
Purpose:
To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods:
Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results:
In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions
Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.
3.Treatment of periodontal lesion caused by palatogingival groove in maxillary lateral incisor: case reports.
Sun Ha KIM ; Jin Woo PARK ; Jo Young SUH ; Jae Mok LEE
The Journal of the Korean Academy of Periodontology 2009;39(4):425-429
PURPOSE: The palatogingival groove is a developmental anomaly of the incisor teeth, which often presents severe localized periodontal disease. The purpose of this study was to evaluate the clinical outcome of palatogingival groove-associated periodontal lesion following flap operation with glass ionomer filling. METHODS: Four patients with periodontal lesion associated with the palatogingival groove were chosen for this case study. Clinical indices were taken and radiographic exam was performed at the baseline of the study and four patients were treated by flap operation with GI filling. Post-surgical visits were scheduled at regular intervals to check clinical and radiographic changes. RESULTS: Symptoms and signs of periodontal lesion were almost completely resolved with improvement of periodontal indices CONCLUSIONS: Flap operation with direct glass ionomer restoration is thought to be an acceptable method which can produce favorable results in the treatment of periodontal lesion caused by palatogingival groove on the maxillary lateral incisor.
Acrylic Resins
;
Glass
;
Glass Ionomer Cements
;
Humans
;
Incisor
;
Periodontal Diseases
;
Periodontal Index
;
Silicon Dioxide
;
Tooth
;
Tooth Abnormalities
4.The Relationship Between Serum Lipids and Depression.
Keum Ji JUNG ; Yejin MOK ; Hyoung Yoon CHANG ; Dongkoog SON ; Eun Jeong HAN ; Young Duk YUN ; Sun Ha JEE
Journal of Lipid and Atherosclerosis 2014;3(1):11-19
OBJECTIVE: Low cholesterol is associated with depression among western countries. The objective of this study was to examine the relationship between cholesterol and depression in Korean population with low levels of serum cholesterol. METHODS: The data of about 740,000 individuals, aged 30-64 years at entry in the Korean Cancer Prevention Study, were used. Total cholesterol levels were measured in 1992. Depression was measured using the modified DSM-IV (Diagnostic Criteria of Major Depressive Episode in Diagnostic and Statistical Manual of Mental Disorders-IV) scale. Total cholesterol was classified into four groups (quartile). Odds Ratios of low level of cholesterol were evaluated using multi-variable logistic models. RESULTS: The prevalence of major depression was 7.7% in men and 10.4% in women. After adjustment for various confounding variables, an inverse association was detected between cholesterol levels and depression intensity among men and women. The odds ratio (95% confidence interval) of the lowest quartile of cholesterol was 1.16 (1.13-1.20) on major depression compared with the highest quartile of cholesterol in men. The corresponding odds ratio among women was 1.09 (1.04-1.15). The strongest association among 9 items of depression was found at "decreased appetite and lost weight" in both men (OR=1.68) and women (OR=1.43). CONCLUSION: Low cholesterol is associated with major depression in men and women. Further studies are necessary to evaluate the cross-validation, to explore the biological mechanism, and to identify the clinical implication.
Appetite
;
Cholesterol
;
Confounding Factors (Epidemiology)
;
Depression*
;
Diagnostic and Statistical Manual of Mental Disorders
;
Epidemiology
;
Female
;
Humans
;
Logistic Models
;
Male
;
Odds Ratio
;
Prevalence
5.Case report of esthetic maxillary anterior crown lengthening.
Sun Ha KIM ; Jin Woo PARK ; Jo Young SUH ; Jae Mok LEE
The Journal of the Korean Academy of Periodontology 2009;39(2):199-204
PURPOSE: Excessive gingival display and short clinical crowns due to altered passive eruptions are major concerns for a considerable number of patients visiting dental clinics. Altered passive eruptions could be corrected through various types of periodontal surgery conformable to a classification. 3 cases are reported here on the esthetic correction of altered passive eruption to evaluate results of crown lengthening procedure. METHODS:Three patients whose major complaints were excessive gingival display and short teeth were picked out for this case study. Before treatment, clinical and radiological exam was performed to choose type of surgery. Thickness and width of keratinized gingiva was measured in all three patients then they were treated by surgical methods including flap operation and depigmentation under subsequent diagnosis. RESULTS: Uneventful healing and stable gingival margin were observed in all three patients except recurrence of gingival pigmentation of one patient. CONCLUSIONS: The treatment of altered passive eruption requires precise diagnostic procedure and could achieve better esthetic outcomes when it is accompanied by other orthodontic and orthognathic treatment.
Crown Lengthening
;
Crowns
;
Dental Clinics
;
Gingiva
;
Humans
;
Keratins
;
Pigmentation
;
Recurrence
;
Tooth
6.The Effect of Ratio of Kidney Weight to Recipient Weight and Body Surface Area on the Renal Allograft Outcome.
Tae Seung LEE ; In Mok JUNG ; Byung Sun CHO ; Jong Won HA ; Sang Joon KIM
The Journal of the Korean Society for Transplantation 1997;11(2):247-252
The hyperfiltration hypothesis postulates that kidney with reduced renal mass will progress toward failure due to hypertrophy of the remaining nephron to meet the excess load, eventually leading to nephron exhaustion. We assessed the influence of renal size on graft function in all allogrft except loss of graft within 6 month between September 1995 and February 1997(n=58). Patients were divided into two groups based on the ratio of kidney weight to recipient body surface area(KW/BSA>or=0.11, KW/BSA<0.11), weight(KW/BW>or=0.3, KW/BW<0.3) respectively and outcomes were compared by methods including student t-test and Chi-square test. Three conditions, in which hyperfiltration might be suspected, proposed by Teraski, were studied also: grafts from females to males compared with males to females, kidneys that experience rejection episodes and cadaveric grafts compared with living donor grafts. There was no correlation between KW/BSA, KW/BW and serum creatinine and degree of proteinuria at 1, 3, 6, 12 months posttransplant. Three conditions under which hyperfiltration damage might be suspected had no differences in study groups. Although more cases should be studied with long term follow-up, we conclude that donor kidney size has no apparent effect on renal allograft outcome in short term follow-up.
Allografts*
;
Body Surface Area*
;
Cadaver
;
Creatinine
;
Female
;
Follow-Up Studies
;
Humans
;
Hypertrophy
;
Kidney Transplantation
;
Kidney*
;
Living Donors
;
Male
;
Nephrons
;
Proteinuria
;
Tissue Donors
;
Transplants
7.Splenic Artery Aneurysm
Wonshik HAN ; In Mok JUNG ; Ik Jin YUN ; Byung Sun CHO ; Jongwon HA ; Sang Joon KIM
Journal of the Korean Society for Vascular Surgery 1998;14(1):98-104
Splenic artery aneurysms (SAA) are the third most common intra-abdominal aneurysm and most common splanchnic artery aneurysm. They remain the subject of continued interest since the first case reported by Beaussier in 1770. The cause and indications for surgical treatment are controversial. In most cases, SAAs are detected as incidental findings. Their importance lies in their potentially fatal consequence due to rupture. We reviewed clinical features and treatment results of patients with splenic artery aneurysm experienced in Seoul National University Hospital from January, 1987 to June, 1997. Six patients of SAAs were treated during this period. Male to female ratio was 3:3, and median age was 56 years. The mean parity of all women was 3.7 and there were no pregnant women. Common symptoms were abdominal pain, hematemesis, and abdominal mass. Two patients(33.3%) were asymptomatic. The associated diseases that might cause the aneurysms were pancreatitis in 2 patients, portal hypertension in 1, operative trauma in 1, and mycotic aneurysm in 1 patient. Rupture occurred in 2 patients. One patients presented repeated hematemesis due to formation of gastro-aneurysmal fistula. Except one patient diagnosed as SAA incidentally during gastrectomy, all aneurysms were confirmed by angiography. Abdominal sonography was performed in 4 patients, and CT scan in 3. The size of the aneurysms ranged from 1 cm to 8 cm in diameter, with larger than 3 cm in 66%, smaller than 2 cm in 33% of aneurysms. About location, 33% located at proximal vessels, 17% at mid-third and 50% at distal. Five patients underwent surgical treatment. Splenectomy was performed in 3 patients, and exclusion of aneurysm in 2. We could preserve spleen in 1 case of distally located aneurysm by aneurysmal exclusion and end-to-end anastomosis of splenic artery. One patient underwent percutaneous embolization of the lesion and successfully treated. Two postoperative complications developed in ruptured cases and were managed conservatively. There was no postoperative mortality. In conclusion, complication and mortality in elective operation of SAA decreased due to recent improvement of radiologic tools and operative techniques. Considering severe fatality and morbidity of rupture of aneurysm, prompt and aggressive treatment is required in patients with high risk of rupture.
Abdominal Pain
;
Aneurysm
;
Aneurysm, Infected
;
Angiography
;
Arteries
;
Female
;
Fistula
;
Gastrectomy
;
Hematemesis
;
Humans
;
Hypertension, Portal
;
Incidental Findings
;
Male
;
Mortality
;
Pancreatitis
;
Parity
;
Postoperative Complications
;
Pregnant Women
;
Rupture
;
Seoul
;
Spleen
;
Splenectomy
;
Splenic Artery
;
Tomography, X-Ray Computed
8.The Current Status of Medical Decision-Making for Dying Patients in a Medical Intensive Care Unit: A Single-Center Study.
Kyunghwa SHIN ; Jeong Ha MOK ; Sang Hee LEE ; Eun Jung KIM ; Na Ri SEOK ; Sun Suk RYU ; Myoung Nam HA ; Kwangha LEE
The Korean Journal of Critical Care Medicine 2014;29(3):160-165
BACKGROUND: Many terminally ill patients die while receiving life-sustaining treatment. Recently, the discussion of life-sustaining treatment in intensive care units (ICUs) has increased. This study is aimed to evaluate the current status of medical decision-making for dying patients. METHODS: The medical records of patients who had died in the medical ICU from March 2011 to February 2012 were reviewed retrospectively. RESULTS: Eighty-nine patients were enrolled. Their mean age was 65.8 +/- 13.3 years and 73.0% were male. The most common diagnosis was acute respiratory failure, and the most common comorbidity was hemato-oncologic malignancy. Withdrawing or withholding life-sustaining treatment including do-not-resuscitate (DNR) orders was discussed for 64 (71.9%) patients. In almost all cases, the discussion involved a physician and the patient's family. No patient wrote advance directives themselves before ICU admission. Of the patients for whom withdrawing or withholding life-sustaining treatment was discussed, the decisions were recorded in formal consent documents in 36 (56.3%) cases, while 28 (43.7%) cases involved verbal consent. In patients granting verbal consent, death within one day of the consent was more common than in those with formal document consent (85.7% vs. 61.1%, p < 0.05). The most common demand was a DNR order. Patients died 2.7 +/- 1.0 days after the decision for removal of life-sustaining treatment. CONCLUSIONS: The decision-making for life-sustaining treatment of dying patients in the ICU very often involves conflict. There is a general need to heighten our sensitivity on the objective decision-making based on patient autonomy.
Advance Directives
;
Comorbidity
;
Consent Forms
;
Diagnosis
;
Financing, Organized
;
Humans
;
Intensive Care Units*
;
Male
;
Medical Records
;
Respiratory Insufficiency
;
Retrospective Studies
;
Terminal Care
;
Terminally Ill
9.The J-curve between Diastolic Blood Pressure and Risk of All-cause and Cardiovascular Death
Heejin KIMM ; Yejin MOK ; Sun Ju LEE ; Sunmi LEE ; Joung Hwan BACK ; Sun Ha JEE
Korean Circulation Journal 2018;48(1):36-47
BACKGROUND AND OBJECTIVES: The J-curve phenomenon between diastolic blood pressure (DBP) and mortality has been reported repeatedly in treated patients. However, the baseline risk of low DBP has not been fully explored. This study was to examine the relationship between DBP and risk of mortality from all-cause, atherosclerotic vascular diseases (ASCVD), and ischemic heart disease (IHD) using a prospective cohort of general population. METHODS: We analyzed 1,234,435 participants of the Korean Cancer Prevention Study cohort (789,255 men, 30–95 years of age) who had a medical evaluation from 1992 to 1995 using Cox proportional hazards models. RESULTS: A total of 22.5 million person-years were followed up (mean age 46.6 years, deaths 193,903 cases). The hazard ratios of mortality from all-cause and ASCVD, among those with DBP < 60 mmHg compared to 70–79 mmHg were 1.23 (95% confidence interval [CI], 1.16–1.30) and 1.37 (95% CI, 1.20–1.57), respectively, after adjustment for multivariable including systolic blood pressure. Increased risks of all-cause death in the lowest DBP category group were maintained in men or women, 30–59 or ≥60 years of age, smoker or non-smoker and diabetes mellitus (DM) or non-DM subgroups. The risk in DBP 60–69 mmHg groups increased in several subgroups. However, the risk for ASCVD death in 30–59 years and DM group, and risk for IHD death in most subgroups except for elderly (≥60 years) decreased. CONCLUSION: A J-curve relationship between low DBP and all-cause death was found consistently. The baseline risk in the general population may be considered for risk assessment, particularly in case of interventions that lower DBP below 60 mmHg.
Aged
;
Blood Pressure
;
Cohort Studies
;
Diabetes Mellitus
;
Female
;
Humans
;
Hypertension
;
Male
;
Mortality
;
Myocardial Ischemia
;
Proportional Hazards Models
;
Prospective Studies
;
Risk Assessment
;
Vascular Diseases
10.The J-curve between Diastolic Blood Pressure and Risk of All-cause and Cardiovascular Death
Heejin KIMM ; Yejin MOK ; Sun Ju LEE ; Sunmi LEE ; Joung Hwan BACK ; Sun Ha JEE
Korean Circulation Journal 2018;48(1):36-47
BACKGROUND AND OBJECTIVES:
The J-curve phenomenon between diastolic blood pressure (DBP) and mortality has been reported repeatedly in treated patients. However, the baseline risk of low DBP has not been fully explored. This study was to examine the relationship between DBP and risk of mortality from all-cause, atherosclerotic vascular diseases (ASCVD), and ischemic heart disease (IHD) using a prospective cohort of general population.
METHODS:
We analyzed 1,234,435 participants of the Korean Cancer Prevention Study cohort (789,255 men, 30–95 years of age) who had a medical evaluation from 1992 to 1995 using Cox proportional hazards models.
RESULTS:
A total of 22.5 million person-years were followed up (mean age 46.6 years, deaths 193,903 cases). The hazard ratios of mortality from all-cause and ASCVD, among those with DBP < 60 mmHg compared to 70–79 mmHg were 1.23 (95% confidence interval [CI], 1.16–1.30) and 1.37 (95% CI, 1.20–1.57), respectively, after adjustment for multivariable including systolic blood pressure. Increased risks of all-cause death in the lowest DBP category group were maintained in men or women, 30–59 or ≥60 years of age, smoker or non-smoker and diabetes mellitus (DM) or non-DM subgroups. The risk in DBP 60–69 mmHg groups increased in several subgroups. However, the risk for ASCVD death in 30–59 years and DM group, and risk for IHD death in most subgroups except for elderly (≥60 years) decreased.
CONCLUSION
A J-curve relationship between low DBP and all-cause death was found consistently. The baseline risk in the general population may be considered for risk assessment, particularly in case of interventions that lower DBP below 60 mmHg.