No abstract available.

The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.
Diagnosis ; Endocrine System Diseases ; Endocrinology ; Genetic Testing ; Genetic Variation ; Genetics ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans

We report distinctive diffusion-weighted magnetic resonance image (DWI) findings in a 65-year-old man with clinically diagnosed Creutzfeldt-Jakob disease (CJD). Four weeks before admission he developed general weakness and febrile sense which were followed by progressive dementia, ataxia, and choreo-athetoid movement of the right hand. T2-weighted magnetic resonance image (MRI) showed subtle high signal intensities only in the left basal ganglia, whereas DWI demonstrated marked hyperintensities in multiple regions including the left basal ganglia and left cerebral cortex. Five weeks after the onset of symptoms, he was noted to have myoclonus and characteristic electroencephalographic changes consisting of periodic triphasic sharp waves. In our patient, high signal changes on the DWI preceded myoclonus and typical EEG findings, a result suggesting that DWI may be useful in the early premortem diagnosis of CJD.
Aged ; Ataxia ; Basal Ganglia ; Cerebral Cortex ; Creutzfeldt-Jakob Syndrome* ; Dementia ; Diagnosis ; Electroencephalography ; Hand ; Humans ; Myoclonus

Extracranial carotid artery aneurysm is a rare disease. A 72-year-old man was admitted with a painful neck mass for 5 days. Neck CT angiography and carotid duplex ultrasonography revealed a fusiform aneurysm of the left carotid bifurcation with a thrombus. His symptoms improved after anticoagulation therapy. The thrombus decreased in size and ultimately disappeared, as evidenced by serial duplex examinations. Carotid duplex ultrasonography is a simple and useful tool for diagnosis and follow-up.
Aged ; Aneurysm ; Angiography ; Carotid Arteries ; Carotid Artery Diseases ; Follow-Up Studies ; Humans ; Neck ; Rare Diseases ; Thrombosis ; Ultrasonography, Doppler, Duplex

BACKGROUND: Systemic hypertension produces varying degree of LVH which is associated with increased cardiovascular morbidiity. Previous studies have documented regression of LVH with various antihypertensives including calcium channel blockers, except diuretics and vasodilators. Recently echocadiographic assessment of the change of left ventricular mass(LVM) after antihyertensive therapy have been reported to offer prognostic cardiovascular information. The aim of this echocardiographic study is determining the influence of nicardipine, a calcium channel blocker, on the change of LVM in patients with essential hypertenison. METHODS: Left ventricular mass(LVM) and left ventricular mass index(LVMI) were measured by M-mode echocardiography in 15 patients with essential hypertension. Nicardipine, a calcium channel blocker, was administered for 6 months and two echocardiographies were done before and after administering, respectively. RESULTS: In the 15 patients treated for 6 months, systolic and diastolic pressure remained very significantly decreased compared with pressure before before therapy(135+/-15mmHg vs 168+/-26mmHg, and 86+/-7mmHg vs 105+/-16mmHg, both p<0.01). Concomitantly both LVM and LVMI decreased significantly(209+/-49g vs 235+/-71g, and 116+/-6g/m2 vs 131+/-38g/m2,both p<0.05). And no change was noted in left ventricular cavity size, demonstration that LVM reduction was due to regression of hypertrophy. CONCLUSION: This study showed that nicardipine produced a significant decrease in blood pressure, LVM, and LVMI over the 6 months period. And large and longterm controlled studies are needed for the clarification of the association between nicardipine and regression of LVH in hypertensive patients.
Antihypertensive Agents ; Blood Pressure ; Calcium Channel Blockers ; Calcium Channels ; Diuretics ; Echocardiography ; Humans ; Hypertension ; Hypertrophy ; Nicardipine* ; Vasodilator Agents

Anorectal cancer is traditionally treated via abdominoperineal resection and/or chemoradiation. Currently, endoscopic submucosal dissection (ESD) is widely used to treat early gastrointestinal epithelial neoplasias. However, the use of ESD to treat lesions of the anal canal raises concerns that do not arise when treating lesions of the stomach and colorectum. Therefore, particular care is needed when treating lesions in the anal area. We recently treated a 75-year-old woman who was scheduled for surgical resection to treat anorectal cancer. The lesion was successfully removed using ESD. This is the first report of the use of ESD to treat anorectal cancer in Korea. Here, we present our case report and review the relevant literature.
Aged ; Anal Canal ; Female ; Humans ; Korea ; Stomach

BACKGROUND/AIMS: To suggest a lexicon for liver ultrasonography and to identify radiologic features indicative of benign or malignant lesions on surveillance ultrasonography. METHODS: This retrospective study included 188 nodules (benign, 101; malignant, 87) from 175 at-risk patients identified during surveillance ultrasonography for hepatocellular carcinoma. We created a lexicon for liver ultrasonography by reviewing relevant literature regarding the ultrasonographic features of hepatic lesions. Using this lexicon, two abdominal radiologists determined the presence or absence of each ultrasonographic feature for the included hepatic lesions. Independent factors associated with malignancy and interobserver agreement were determined by logistic regression analysis and kappa statistics, respectively. RESULTS: Larger tumor size (odds ratio [OR], 1.12; 95% confidence interval [CI], 1.06-1.183; P<0.001), multinodular confluent morphology (OR, 7.712; 95% CI, 1.053-56.465; P=0.044), thick hypoechoic rim (OR, 5.878; 95% CI, 2.681-12.888; P<0.001), and posterior acoustic enhancement (OR, 3.077; 95% CI, 1.237-7.655; P=0.016) were independently associated with malignant lesions. In a subgroup analysis of lesions <2 cm, none of the ultrasonographic features were significantly associated with malignancy or benignity. Interobserver agreement for morphology was fair (κ=0.36), while those for rim (κ=0.427), echogenicity (κ=0.549), and posterior acoustic enhancement (κ=0.543) were moderate. CONCLUSIONS: For hepatic lesions larger than 2 cm, some ultrasonography (US) features might be suggestive of malignancy. We propose a lexicon that may be useful for surveillance US.
Acoustics ; Carcinoma, Hepatocellular* ; Humans ; Liver ; Logistic Models ; Retrospective Studies ; Ultrasonography*

BACKGROUND AND OBJECTIVES: The mechanism responsible for lethal ventricular arrhythmia (LVA) after acute myocardial infarction (AMI) remains unclear. SUBJECTS AND METHODS: The corrected QT interval (QTc) and interval from the peak to the end of the T wave (TpTe) were measured, which indicated myocardial transmural dispersion of repolarization (TDR) in 72 patients with AMI. TpTe was also expressed as a corrected value, [TpTe/QTe]x100% and TpTe/√RR. These parameters were obtained from all the 12-leads of electrocardiography after arrival at the hospital, just before and after percutaneous coronary intervention (PCI), and at 4, 24, and 48 hours and 5 days after PCI. RESULTS: Analyzing with repeated measures analysis of variance, the TpTe, [TpTe/QTe]x100% and TpTe/√RR after AMI showed significant changes in time variance. The patients were divided into LVA (17 patients, 24%) and non-LVA group (55 patients, 76%). The [TpTe/ QTe]×100% (V₂: 25±7% vs. 22±5%, p=0.036) and TpTe/√RR (V₂: 109 ± 42 ms vs. 88 ± 22 ms, p=0.05, V₃: 108±39 ms vs. 91±27 ms, p=0.048) in V₂ and V₃ leads were prolonged in the LVA group after PCI. The [TpTe/QTe]×100% (28±9 % vs. 22±5%, p=0.025) and TpTe/√RR (129±53 ms vs. 99±41 ms, p=0.05) in V₃ lead were prolonged in the LVA group 24 hours after PCI. CONCLUSION: The mechanisms responsible for LVA after AMI may be associated with increased TDR, and PCI may have an important role in reducing LVA.
Arrhythmias, Cardiac ; Electrocardiography* ; Humans ; Myocardial Infarction* ; Percutaneous Coronary Intervention

Purpose: Alzheimer’s disease (AD) dementia may not be a single disease entity. Early-onset AD (EOAD) and late-onset AD (LOAD) have been united under the same eponym of AD until now, but disentangling the heterogeneity according to the age of sonset has been a major tenet in the field of AD research. Materials and Methods: Ninety-nine patients with AD (EOAD, n=54; LOAD, n=45) and 66 cognitively normal controls completed both [18F]THK5351 and [18F]flutemetamol (FLUTE) positron emission tomography scans along with structural magnetic resonance imaging and detailed neuropsychological tests. Results: EOAD patients had higher THK retention in the precuneus, parietal, and frontal lobe, while LOAD patients had higher THK retention in the medial temporal lobe. Intravoxel correlation analyses revealed that EOAD presented narrower territory of local FLUTE-THK correlation, while LOAD presented broader territory of correlation extending to overall parieto-occipito-temporal regions. EOAD patients had broader brain areas which showed significant negative correlations between cortical thickness and THK retention, whereas in LOAD, only limited brain areas showed significant correlation with THK retention. In EOAD, most of the cognitive test results were correlated with THK retention. However, a few cognitive test results were correlated with THK retention in LOAD. Conclusion LOAD seemed to show gradual increase in tau and amyloid, and those two pathologies have association to each other. On the other hand, in EOAD, tau and amyloid may develop more abruptly and independently. These findings suggest LOAD and EOAD may have different courses of pathomechanism.

BACKGROUND AND OBJECTIVES: Microvascular function is a useful predictor of left ventricular functional changes in patients with ST-segment elevation myocardial infarction (STEMI). We evaluated the usefulness of the hyperemic microvascular resistance index (hMVRI) for predicting long-term major adverse cardiovascular events (MACEs) in patients with STEMI assessed immediately after primary percutaneous coronary intervention (PCI). SUBJECTS AND METHODS: hMVRI were evaluated in 145 patients with first acute STEMI treated with primary PCI using an intracoronary Doppler wire. hMVRI was defined as the ratio of mean aortic pressure over hyperemic averaged peak velocity of infarct-related artery. Major adverse cardiovascular events (MACEs) included cardiac death and re-hospitalization for congestive heart failure. RESULTS: During the mean follow-up of 85+/-43 months, MACEs occurred in 17.2% of patients. Using a receiver-operating characteristics analysis, hMVRI >2.82 mm Hg.cm-1.sec (sensitivity: 87%; specificity: 69%; and area under curve: 0.818) was the best cut-off values for predicting future cardiac events. The Cox proportional hazard analysis showed that hMVRI was an independent predictor for long-term MACEs (hazard ratio 1.741, 95% confidence interval 1.348-2.264, p<0.001). The Kaplan-Meier survival analysis showed a higher incidence of MACEs in patients with hMVRI >2.82 mm Hg.cm-1.sec (p<0.001). CONCLUSION: hMVRI was a strong predictor of long-term MACEs in patients with STEMI treated with primary PCI.
Area Under Curve ; Arterial Pressure ; Arteries ; Death ; Follow-Up Studies ; Heart Failure ; Humans ; Incidence ; Microcirculation ; Myocardial Infarction* ; Percutaneous Coronary Intervention ; Sensitivity and Specificity