1.Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
Byung Woo CHOI ; Seongho PARK ; Hee Jin KIM
Dementia and Neurocognitive Disorders 2016;15(2):52-54
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation. CASE REPORT: A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL. CONCLUSIONS: We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.
Aged
;
CADASIL*
;
Cell Cycle
;
Codon
;
Cognition Disorders
;
Cytosine
;
Exons
;
Female
;
Headache
;
Humans
;
Memory
;
Migraine Disorders
;
Mutation, Missense*
;
Proline
;
Serine
;
Stroke
;
Thymine
2.Fatal Non-thrombotic Pulmonary Embolism after Vaginal Filler Injection: A Report of Two Autopsy Cases and Literature Review
Sojung LIM ; Seongho KIM ; Seung Gyu CHOI ; Sohyung PARK
Korean Journal of Legal Medicine 2025;49(1):7-15
Non-thrombotic pulmonary embolism (NTPE) is a rare but potentially fatal complication of filler injections. It can result not only from direct intravascular injection but also from the migration of fillers into veins due to local pressure. Here, we report the autopsy findings of two deaths resulting from NTPE following vaginal filler injections. The first case involved a 38-year-old woman who lost consciousness 20-40 minutes after receiving an injection of 15 mL of hyaluronic acid (HA) filler. A large amount of filler was observed in the vagina with gross embolization of the paravaginal vessels. Microscopic examination revealed HA embolism in the lungs. Despite treatment, the patient died 10 days after the procedure. The second case involved a 35-year-old woman who experienced desaturation and cardiac arrest 4 minutes after receiving a collagen filler and a hybrid filler consisting of HA and polylactic acid. An autopsy revealed NTPE and systemic embolism of the collagen filler. She died 1 month after treatment in the intensive care unit. The vagina poses a significant risk for filler injections owing to its rich venous plexus. Doctors should be fully aware of this risk, and a complete autopsy should be performed in such cases.
3.Fatal Non-thrombotic Pulmonary Embolism after Vaginal Filler Injection: A Report of Two Autopsy Cases and Literature Review
Sojung LIM ; Seongho KIM ; Seung Gyu CHOI ; Sohyung PARK
Korean Journal of Legal Medicine 2025;49(1):7-15
Non-thrombotic pulmonary embolism (NTPE) is a rare but potentially fatal complication of filler injections. It can result not only from direct intravascular injection but also from the migration of fillers into veins due to local pressure. Here, we report the autopsy findings of two deaths resulting from NTPE following vaginal filler injections. The first case involved a 38-year-old woman who lost consciousness 20-40 minutes after receiving an injection of 15 mL of hyaluronic acid (HA) filler. A large amount of filler was observed in the vagina with gross embolization of the paravaginal vessels. Microscopic examination revealed HA embolism in the lungs. Despite treatment, the patient died 10 days after the procedure. The second case involved a 35-year-old woman who experienced desaturation and cardiac arrest 4 minutes after receiving a collagen filler and a hybrid filler consisting of HA and polylactic acid. An autopsy revealed NTPE and systemic embolism of the collagen filler. She died 1 month after treatment in the intensive care unit. The vagina poses a significant risk for filler injections owing to its rich venous plexus. Doctors should be fully aware of this risk, and a complete autopsy should be performed in such cases.
4.Fatal Non-thrombotic Pulmonary Embolism after Vaginal Filler Injection: A Report of Two Autopsy Cases and Literature Review
Sojung LIM ; Seongho KIM ; Seung Gyu CHOI ; Sohyung PARK
Korean Journal of Legal Medicine 2025;49(1):7-15
Non-thrombotic pulmonary embolism (NTPE) is a rare but potentially fatal complication of filler injections. It can result not only from direct intravascular injection but also from the migration of fillers into veins due to local pressure. Here, we report the autopsy findings of two deaths resulting from NTPE following vaginal filler injections. The first case involved a 38-year-old woman who lost consciousness 20-40 minutes after receiving an injection of 15 mL of hyaluronic acid (HA) filler. A large amount of filler was observed in the vagina with gross embolization of the paravaginal vessels. Microscopic examination revealed HA embolism in the lungs. Despite treatment, the patient died 10 days after the procedure. The second case involved a 35-year-old woman who experienced desaturation and cardiac arrest 4 minutes after receiving a collagen filler and a hybrid filler consisting of HA and polylactic acid. An autopsy revealed NTPE and systemic embolism of the collagen filler. She died 1 month after treatment in the intensive care unit. The vagina poses a significant risk for filler injections owing to its rich venous plexus. Doctors should be fully aware of this risk, and a complete autopsy should be performed in such cases.
5.Fatal Non-thrombotic Pulmonary Embolism after Vaginal Filler Injection: A Report of Two Autopsy Cases and Literature Review
Sojung LIM ; Seongho KIM ; Seung Gyu CHOI ; Sohyung PARK
Korean Journal of Legal Medicine 2025;49(1):7-15
Non-thrombotic pulmonary embolism (NTPE) is a rare but potentially fatal complication of filler injections. It can result not only from direct intravascular injection but also from the migration of fillers into veins due to local pressure. Here, we report the autopsy findings of two deaths resulting from NTPE following vaginal filler injections. The first case involved a 38-year-old woman who lost consciousness 20-40 minutes after receiving an injection of 15 mL of hyaluronic acid (HA) filler. A large amount of filler was observed in the vagina with gross embolization of the paravaginal vessels. Microscopic examination revealed HA embolism in the lungs. Despite treatment, the patient died 10 days after the procedure. The second case involved a 35-year-old woman who experienced desaturation and cardiac arrest 4 minutes after receiving a collagen filler and a hybrid filler consisting of HA and polylactic acid. An autopsy revealed NTPE and systemic embolism of the collagen filler. She died 1 month after treatment in the intensive care unit. The vagina poses a significant risk for filler injections owing to its rich venous plexus. Doctors should be fully aware of this risk, and a complete autopsy should be performed in such cases.
6.Uncommon Mechanism of Mangled Extremity; Three Cases of Rope Entanglement Injury of the Lower Leg
Minsu NOH ; Kyu-Hyouck KYOUNG ; Sungjeep KIM ; Min Ae KEUM ; Seongho CHOI ; Kyounghak CHOI ; Jihoon KIM
Journal of Acute Care Surgery 2023;13(1):27-31
Rope entanglement injury is a rare entity. Previous reported studies mainly consisted of finger-related injuries. We describe three cases of rope entanglement injury of the lower leg. In the first patient, a belowthe- knee amputation was performed as the primary treatment for unilateral amputated lower limb. In the second patient, a below-the-knee amputation and perineal wound management were simultaneously performed. The third patient had vascular injury combined with internal soft tissue injury without related bone fracture. He suffered serious sequelae from a delay in transfer from a local hospital. Rope entanglement injuries of the lower leg do not present in a consistent manner, and the treatment of accompanying injuries should be considered from an early stage. Care should be taken to ensure that there are no internal injuries missed because the exterior appears to be stable.
7.The Effect of Cognitive Training in a Day Care Center in Patients with Early Alzheimer’s Disease Dementia: A Retrospective Study
Hyuk Sung KWON ; Ha-rin YANG ; Kyungtaek YUN ; Jong Sook BAEK ; Young Un KIM ; Seongho PARK ; Hojin CHOI
Psychiatry Investigation 2020;17(8):829-834
Objective:
This study aimed to evaluate the effect of cognitive training programs on the progression of dementia in patients with early stage Alzheimer’s disease dementia (ADD) at the day care center.
Methods:
From January 2015 to December 2018, a total of 119 patients with early ADD were evaluated. All subjects were classified into two groups according to participate in cognitive training program in addition to usual standard clinical care. Changes in scores for minimental status examination-dementia screening (MMSE-DS) and clinical dementia rating-sum of boxes (CDR-SOB) during the 12 months were compared between two groups. Multivariable logistic regression analyses were performed.
Results:
As compared to case-subjects (n=43), the MMSE-DS and CDR-SOB scores were significantly worse at 12 months in the control-subjects (n=76). A statistically significant difference between the two groups was observed due to changes in MMSE-DS (p=0.012) and CDR-SOB (p<0.001) scores. Multivariable logistic regression analysis showed that the cognitive training program (odds ratio and 95% confidence interval: 0.225, 0.070–0.725) was independently associated with less progression of ADD.
Conclusion
The cognitive training program was associated with benefits in maintaining cognitive function for patients with earlystage ADD that were receiving medical treatment.
8.Efficacy of Barium-Based Fecal Tagging for CT Colonography: a Comparison between the Use of High and Low Density Barium Suspensions in a Korean Population - a Preliminary Study.
Min Ju KIM ; Seong Ho PARK ; Seung Soo LEE ; Jeong Sik BYEON ; Eugene K CHOI ; Jung Hoon KIM ; Yeoung Nam KIM ; Ah Young KIM ; Hyun Kwon HA
Korean Journal of Radiology 2009;10(1):25-33
OBJECTIVE: This preliminarily study was designed to determine and to compare the efficacy of two commercially available barium-based fecal tagging agents for CT colonography (CTC) (high-density [40% w/v] and low-density [4.6% w/v] barium suspensions) in a population in Korea. MATERIALS AND METHODS: In a population with an identified with an average-risk for colorectal cancer, 15 adults were administered three doses of 20 ml 40% w/v barium for fecal tagging (group I) and 15 adults were administered three doses of 200 ml 4.6% w/v barium (group II) for fecal tagging. Excluding five patients in group I and one patient in group II that left the study, ten patients in group I and 14 patients in group II were finally included in the analysis. Two experienced readers evaluated the CTC images in consensus regarding the degree of tagging of stool pieces 6 mm or larger. Stool pieces were confirmed with the use of standardized CTC criteria or the absence of matched lesions as seen on colonoscopy. The rates of complete fecal tagging were analyzed on a per-lesion and a per-segment basis and were compared between the patients in the two groups. RESULTS: Per-lesion rates of complete fecal tagging were 52% (22 of 42; 95% CI, 37.7-66.6%) in group I and 78% (28 of 36; 95% CI, 61.7-88.5%) in group II. The difference between the two groups did not reach statistical significance (p = 0.285). The per-segment rates of complete tagging were 33% (6 of 18; 95% CI, 16.1%-56.4%) in group I and 60% (9 of 15; 95% CI, 35.7%-80.3%) in group II; again, the difference between the two groups did not reach statistical significance (p = 0.171). CONCLUSION: Barium-based fecal tagging using both the 40% w/v and the 4.6% w/v barium suspensions showed moderate tagging efficacy. The preliminary comparison did not demonstrate a statistically significant difference in the tagging efficacy between the use of the two tagging agents, despite the tendency toward better tagging with the use of the 4.6% w/v barium suspension.
Administration, Oral
;
Adult
;
Barium/administration & dosage/*diagnostic use
;
Colon/radiography
;
*Colonography, Computed Tomographic/methods
;
Colonoscopy
;
Colorectal Neoplasms/diagnosis/radiography
;
Contrast Media/*administration & dosage
;
*Feces
;
Female
;
Humans
;
Male
;
Middle Aged
;
Suspensions
9.Long-Term Changes in Post-Stroke Depression, Emotional Incontinence, and Anger
Boseong KWON ; Eun-Jae LEE ; Seongho PARK ; Ji Sung LEE ; Min Hwan LEE ; Daeun JEONG ; Dongwhane LEE ; Hyuk Sung KWON ; Dae-Il CHANG ; Jong-Ho PARK ; Jae-Kwan CHA ; Ji Hoe HEO ; Sung-Il SOHN ; Dong-Eog KIM ; Smi CHOI-KWON ; Jong S. KIM
Journal of Stroke 2021;23(2):263-272
Background:
and Purpose Long-term changes in post-stroke depression (PSD), post-stroke emotional incontinence (PSEI), and post-stroke anger (PSA) have rarely been studied.
Methods:
This is a sub-study of EMOTION, a randomized, placebo-controlled trial, that examined the efficacy of escitalopram on PSD, PSEI, and PSA in patients with stroke. We interviewed patients at the long-term period (LTP) using predefined questionnaires: Montgomery-Åsberg depression rating scale (MADRS) for PSD, modified Kim’s criteria for PSEI, and Spielberger trait anger scale for PSA. Additionally, the ENRICHD Social Support Instrument (ESSI) for the social support state and the modified Rankin Scale (mRS) were measured. We investigated the changes in and factors behind PSD, PSEI, and PSA at LTP.
Results:
A total of 222 patients were included, and the median follow-up duration was 59.5 months (interquartile range, 50 to 70). Compared to the data at 6 months post-stroke, the prevalence of PSEI (11.7% at 6 months, 6.3% at LTP; P=0.05) and mean anger score (21.62, 16.24; P<0.01) decreased, while the prevalence of PSD (35.6%, 44.6%; P=0.03) and mean MADRS (6.16, 8.67; P<0.01) increased at LTP. ESSI was associated with PSD and PSA, but not with PSEI. The effect of the baseline National Institutes of Health Stroke Scale score on PSD decreased over time. The effect of low social support on PSD was greater than that of mRS at LTP.
Conclusions
The prevalence and degree of PSD significantly increased, while those of PSEI and PSA decreased at LTP. PSD in this stage appeared to be more closely associated with a lack of social support than patients' physical disabilities.
10.Long-Term Changes in Post-Stroke Depression, Emotional Incontinence, and Anger
Boseong KWON ; Eun-Jae LEE ; Seongho PARK ; Ji Sung LEE ; Min Hwan LEE ; Daeun JEONG ; Dongwhane LEE ; Hyuk Sung KWON ; Dae-Il CHANG ; Jong-Ho PARK ; Jae-Kwan CHA ; Ji Hoe HEO ; Sung-Il SOHN ; Dong-Eog KIM ; Smi CHOI-KWON ; Jong S. KIM
Journal of Stroke 2021;23(2):263-272
Background:
and Purpose Long-term changes in post-stroke depression (PSD), post-stroke emotional incontinence (PSEI), and post-stroke anger (PSA) have rarely been studied.
Methods:
This is a sub-study of EMOTION, a randomized, placebo-controlled trial, that examined the efficacy of escitalopram on PSD, PSEI, and PSA in patients with stroke. We interviewed patients at the long-term period (LTP) using predefined questionnaires: Montgomery-Åsberg depression rating scale (MADRS) for PSD, modified Kim’s criteria for PSEI, and Spielberger trait anger scale for PSA. Additionally, the ENRICHD Social Support Instrument (ESSI) for the social support state and the modified Rankin Scale (mRS) were measured. We investigated the changes in and factors behind PSD, PSEI, and PSA at LTP.
Results:
A total of 222 patients were included, and the median follow-up duration was 59.5 months (interquartile range, 50 to 70). Compared to the data at 6 months post-stroke, the prevalence of PSEI (11.7% at 6 months, 6.3% at LTP; P=0.05) and mean anger score (21.62, 16.24; P<0.01) decreased, while the prevalence of PSD (35.6%, 44.6%; P=0.03) and mean MADRS (6.16, 8.67; P<0.01) increased at LTP. ESSI was associated with PSD and PSA, but not with PSEI. The effect of the baseline National Institutes of Health Stroke Scale score on PSD decreased over time. The effect of low social support on PSD was greater than that of mRS at LTP.
Conclusions
The prevalence and degree of PSD significantly increased, while those of PSEI and PSA decreased at LTP. PSD in this stage appeared to be more closely associated with a lack of social support than patients' physical disabilities.