A case of maturity-onset diabetes of the young type 4 in Korea

Maturity-onset diabetes of the young (MODY) is a rare, autosomal dominant disease characterized by non-ketogenic diabetes mellitus (DM). MODY type 4, caused by PDX1 mutation, is a very rare subtype of MODY, especially in Korea. We report a case of a 10-year-old, nonobese girl with a family history of type 2 DM. After diagnosis, the patient’s serum glucose level was well controlled using metformin monotherapy; however, the glycated hemoglobin level increased to 9.0% approximately 2 years after treatment. No obesity or lifestyle problems were observed, and serum fasting C-peptide level was within the normal range. Furthermore, no islet-related autoantibodies were detected. A genetic screening for MODY using a next-generation sequencing panel was performed, and a likely heterozygous pathogenic PDX1 mutation (p.Gly246ArgfsTer21) was identified. The PDX1 variant was not detected in her mother, implying that the mutation had arisen de novo in the proband. She was prescribed insulin degludec in addition to metformin therapy, which improved her hyperglycemia. This report presents a novel MODY type 4 phenotype and highlights the importance of genetic screening in patients with MODY characteristics.

A Case of Wilms Tumor with a Tumor Thrombus in a Boy with WAGR Syndrome / 임상소아혈액종양

Intravascular extension of Wilms tumor (WT) can occur in approximately 4-10% of patients. In general, it does not cause any clinical problems because most of these tumors are small. Although there is no standard treatment currently, preoperative chemotherapy and delayed nephrectomy is generally recommended for children with WT accompanied by tumor thrombus. We report a rare case of WT, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome in a boy who also had a huge inferior vena cava thrombus, 7 cm length. The prevalence of bilateral WT and tumor thrombus in WAGR has not been identified. The patient was successfully treated with neoadjuvant chemotherapy to decrease the size of the tumor thrombus with WT and delayed nephrectomy following chemotherapy without any invasive intervention and did not show complications.

Distinct Topographical Patterns of Spike-Wave Discharge in Transgenic and Pharmacologically Induced Absence Seizure Models

Absence seizures (AS) are generalized non-convulsive seizures characterized by a brief loss of consciousness and spike-and-wave discharges (SWD) in an electroencephalogram (EEG). A number of animal models have been developed to explain the mechanisms of AS, and thalamo-cortical networks are considered to be involved. However, the cortical foci have not been well described in mouse models of AS. This study aims to use a high density EEG in pathophysiologically different AS models to compare the spatiotemporal patterns of SWDs. We used two AS models: a pharmacologically induced model (gamma-hydroxybutyric acid, GHB model) and a transgenic model (phospholipase beta4 knock-out, PLCβ4 model). The occurrences of SWDs were confirmed by thalamic recordings. The topographical analysis of SWDs showed that the onset and propagation patterns were markedly distinguishable between the two models. In the PLCβ4 model, the foci were located within the somatosensory cortex followed by propagation to the frontal cortex, whereas in the GHB model, a majority of SWDs was initiated in the prefrontal cortex followed by propagation to the posterior cortex. In addition, in the GHB model, foci were also observed in other cortical areas. This observation indicates that different cortical networks are involved in the generation of SWDs across the two models.

Comparison of hemostatic efficacy and cytotoxicity of three ferric subsulfate- and chitosan-based styptics in different formulations using a rat tail bleeding model

This study was conducted to compare the hemostatic efficacy of three ferric subsulfate- and chitosan-based styptics as a powder and a gel containing ferric subsulfate and chitosan (FSC-PO and FSC-G, respectively) and a soaked pad containing ferric subsulfate and lidocaine (FSL-SP) using a rat tail bleeding model. The cytotoxicity of the styptics against L-929 mouse fibroblasts was also evaluated using a cell counting kit-8 assay. Four groups of 10 rats each were assigned to the three different styptics and a non-treated control groups. Rat tail tips were transected, after which styptics were applied with pressure. The wounds were observed for hemostasis for 3 min, then irrigated with saline to check for recurrent hemorrhage. L-929 mouse fibroblasts were exposed to extracts of the styptics (100 mg/mL) and their dilutions (1:10, 1:100, and 1:1,000). FSC-PO and FSC-G more effectively controlled initial hemorrhage than FSL-SP (p = 0.033). Additionally, FSC-PO and FSC-G more effectively maintained hemostasis than the control group (p = 0.02 and p < 0.01, respectively). However, all styptics showed enhanced cytotoxicity against L-929 cells in a dose-dependent manner. Therefore, although FSC-PO and FSC-G would be recommended to control hemorrhage, the benefits of styptics must be balanced against the clinical significance of their cytotoxicity.

Comparison of hemostatic efficacy and cytotoxicity of three ferric subsulfate- and chitosan-based styptics in different formulations using a rat tail bleeding model / 대한수의학회지

This study was conducted to compare the hemostatic efficacy of three ferric subsulfate- and chitosan-based styptics as a powder and a gel containing ferric subsulfate and chitosan (FSC-PO and FSC-G, respectively) and a soaked pad containing ferric subsulfate and lidocaine (FSL-SP) using a rat tail bleeding model. The cytotoxicity of the styptics against L-929 mouse fibroblasts was also evaluated using a cell counting kit-8 assay. Four groups of 10 rats each were assigned to the three different styptics and a non-treated control groups. Rat tail tips were transected, after which styptics were applied with pressure. The wounds were observed for hemostasis for 3 min, then irrigated with saline to check for recurrent hemorrhage. L-929 mouse fibroblasts were exposed to extracts of the styptics (100 mg/mL) and their dilutions (1:10, 1:100, and 1:1,000). FSC-PO and FSC-G more effectively controlled initial hemorrhage than FSL-SP (p = 0.033). Additionally, FSC-PO and FSC-G more effectively maintained hemostasis than the control group (p = 0.02 and p < 0.01, respectively). However, all styptics showed enhanced cytotoxicity against L-929 cells in a dose-dependent manner. Therefore, although FSC-PO and FSC-G would be recommended to control hemorrhage, the benefits of styptics must be balanced against the clinical significance of their cytotoxicity.

Size-Specific Dose Estimation In the Korean Lung Cancer Screening Project: Does a 32-cm Diameter Phantom Represent a Standard-Sized Patient in Korean Population?

OBJECTIVE: The purposes of this study were to evaluate size-specific dose estimate (SSDE) of low-dose CT (LDCT) in the Korean Lung Cancer Screening (K-LUCAS) project and to determine whether CT protocols from Western countries are appropriate for lung cancer screening in Korea. MATERIALS AND METHODS: For participants (n = 256, four institutions) of K-LUCAS pilot study, volume CT dose index (CTDI(vol)) using a 32-cm diameter reference phantom was compared with SSDE, which was recalculated from CTDI(vol) using size-dependent conversion factor (f-size) based on the body size, as described in the American Association of Physicists in Medicine Report 204. This comparison was subsequently assessed by body mass index (BMI) levels (underweight/normal vs. overweight/obese), and automatic exposure control (AEC) adaptation (yes/no). RESULTS: Size-specific dose estimate was higher than CTDI(vol) (2.22 ± 0.75 mGy vs. 1.67 ± 0.60 mGy, p < 0.001), since the f-size was larger than 1.0 for all participants. The ratio of SSDE to CTDI(vol) was higher in lower BMI groups; 1.26, 1.37, 1.43, and 1.53 in the obese (n = 103), overweight (n = 70), normal (n = 75), and underweight (n = 4), respectively. The ratio of SSDE to CTDI(vol) was greater in standard-sized participants than in large-sized participants independent of AEC adaptation; with AEC, SSDE/CTDI(vol) in large- vs. standard-sized participants: 1.30 ± 0.08 vs. 1.44 ± 0.08 (p < 0.001) and without AEC, 1.32 ± 0.08 vs. 1.42 ± 0.06 (p < 0.001). CONCLUSION: Volume CT dose index based on a reference phantom underestimates radiation exposure of LDCT in standard-sized Korean participants. The optimal radiation dose limit needs to be verified for standard-sized Korean participants.

Differences between Impulsive and Non-Impulsive Suicide Attempts among Individuals Treated in Emergency Rooms of South Korea

OBJECTIVE: A considerable proportion of suicide attempts are the result of sudden desires. Understanding such impulsive suicide attempts is necessary for effective interventions. We evaluated the impulsivity of suicide attempters treated in emergency rooms. The aim of the study was to identify the characteristics of impulsive suicide attempts by comparing these individuals to those who attempted to commit suicide in a non-impulsive manner. METHODS: This study analyzed suicide attempters who visited the emergency departments of seven selected university hospitals. A total of 269 medical records in which impulsivity of suicide attempt were confirmed were subject to be analyzed. The impulsivity of the suicide attempt was examined using a summative score of items 6 and 15 on the Suicide Intent Scale. RESULTS: A total of 48.0% of the participants were impelled by sudden inclinations to attempt suicide. Impulsive attempters were younger, unmarried and less physical illness than non-impulsive attempters, whereas no significant differences were found on psychiatric history and previous suicide history. Impulsive suicide attempters had suicide ideations that were not as severe (χ2=55.33, p<0.001) or intense (t=-8.38, p<0.001) as their counterparts'. Furthermore, medical results of impulsive suicide attempts were better than non-impulsive suicide attempts (t=-3.77, p<0.001). CONCLUSION: The results suggested that a considerable proportion of suicide attempts were the result of sudden inclinations. Impulsive attempts were made in relatively earlier stages of suicide ideation; consequently, they have less intent than non-impulsive attempts.

Characteristics of Korean Suicide Attempters / 신경정신의학

OBJECTIVES: In the current study, we investigated the general characteristics of suicide attempters and attempted to determine factors contributing to suicide attempt by analyzing severe suicide ideation and intent. METHODS: This study analyzed medical records of suicide attempters who visited the emergency departments. Data were collected from 7 university hospitals nationwide. As an evaluation measure of suicide intent, we used Suicide Intent Scale (SIS). Colombia Suicide Severity Rating Scale (C-SSRS) was applied for assessment of severity and intensity of suicide idea and lethality of suicide behavior. RESULTS: Male gender, old age and living alone group showed higher SIS score. Male gender, low income, and having psychiatric diagnosis or suicide history group showed a high score on the severity subscale of suicide ideation of C-SSRS. Old age, low income, and having psychiatric diagnosis showed a high score on the intensity subscale of suicide ideation of C-SSRS. Actual lethality scale of C-SSRS was high in male gender and old age group. Severity and intensity of suicide ideation and suicide intent showed positive correlation with actual lethality of suicide behavior. CONCLUSION: Male gender, old age, living alone, psychiatric diagnosis, and suicide history were risk factors affecting severity and intensity of suicide ideation and intent of suicide. Severity and intensity of suicide ideation and intent are positively related to lethality of suicide behavior.

The Effect of Korean Standardized Suicide Prevention Program on Intervention by Gatekeepers / 신경정신의학

OBJECTIVES: Since 2003 South Korea's suicide rate has remained the highest among Organization for Economic Cooperation and Development countries. Gatekeeper training is a major strategy in the national suicide prevention plan in Korea. In this study, we evaluated the effect of the Korean standardized suicide prevention program on the gatekeeper's intervention, developed by the Korea Association for Suicide Prevention and implemented by the Korea Suicide Prevention Center. METHODS: A telephone survey was conducted in order to assess awareness and intervention for the high risk group. Out of the 35825 people who completed the educational course in 2013, 800 gatekeepers were selected by proportional quota sampling. RESULTS: Of the 800 subjects, 93% answered that people in the high risk group of suicide sent diverse signals implying suicide ; 19.9% of the gatekeepers found actual high risk suicidal people, 95% of whom listened to why they came to think about suicide and 71.5% of listeners gave information about suicide prevention and referred them to mental health professionals. CONCLUSION: The Korean standardized suicide prevention program may be helpful to the gatekeepers in playing an adequate role in intervention, but further study is needed in order to evaluate long-term educational effects.

Spontaneous Suprachoroidal Hemorrhage Associated with Wet Type of Age-Related Macular Degeneration and Hypertension: Two Cases

PURPOSE: To report two cases of spontaneous suprachoroidal hemorrhage associated with wet type of age-related macular degeneration (ARMD) and systemic hypertension. CASE SUMMARY: Two women, aged 76 and 73 years, with a history of systemic hypertension for more than ten years had been treated in an eye clinic for wet type of ARMD. The 76-year-old woman was scheduled to receive an injection of intravitreal Lucentis(R) but experienced sudden onset loss of vision and ocular pain in her left eye. The 73-year-old woman had received no specific treatment for wet type of ARMD. She also complained of visual disturbance and ocular pain. In these two cases, slit lamp or B-scan examination disclosed suprachoroidal hemorrhage. Surgical intervention relieved the ocular pain and symptoms in both cases. CONCLUSIONS: Even if a patient has not received systemic anticoagulation/thrombolytic therapy, if wet-type ARMD patients are elderly and have systemic hypertension, they should receive regular follow-ups because old age and systemic hypertension are risk factors of spontaneous suprachoroidal hemorrhage.