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

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.

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.

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

Purpose: Single-photon emission computed tomography/computed tomography (SPECT/CT) is an advanced hybrid nuclear medicine technology that generates both functional and anatomical images in a single study. As utilization of SPECT/CT in Korea has been increasing, the purpose of this study was to survey its application of cardiac and skeletal SPECT/CT imaging for protocol optimization. Methods: We surveyed CT protocols established for cardiac and skeletal SPECT/CT. We searched the guidelines for the CT protocols for SPECT/CT and reviewed the literature recently published. Results: Among 36 hybrid SPECT scanners equipped with four or more multi-channel detector CTs (MDCTs), 18 scanners were used to perform cardiac studies at both very low current CT (30–80 mA; 11.1%) and ultra-low current CT (13–30 mA; 88.9%). Among the 33 canners, very low current (≤ 80 mA) CT or low current CT (80–130 mA) was used in 23.5%, and 41.8% for spine disorders, and in 36.4% or 30.3% for foot/ankle disorders, respectively. In the CT reconstructions, slice thickness of 5 mm for cardiac studies was most commonly used (94.4%); thinner slices (0.6–1.0 mm) for spine and foot/ankle studies were used in 24.2% and 45.5%, respectively. We also reviewed the international guidelines. Conclusions The results and current recommendations will be helpful for optimizing CT protocols for SPECT/CT. Optimization of SPECT/CT protocols will be required for generating the proper strategy for the specific lesions and clinical purpose.

BACKGROUND AND PURPOSE: There are three distinct subtypes of primary progressive aphasia (PPA): the nonfluent/agrammatic variant (nfvPPA), the semantic variant (svPPA), and the logopenic variant (lvPPA). We sought to characterize the pattern of [¹⁸F]-THK5351 retention across all three subtypes and determine the topography of [¹⁸F]-THK5351 retention correlated with each neurolinguistic score. METHODS: We enrolled 50 participants, comprising 13 PPA patients (3 nfvPPA, 5 svPPA, and 5 lvPPA) and 37 subjects with normal cognition (NC) who underwent 3.0-tesla magnetic resonance imaging, [¹⁸F]-THK5351 positron-emission tomography scans, and detailed neuropsychological tests. The PPA patients additionally participated in extensive neurolinguistic tests. Voxel-wise and region-of-interest-based analyses were performed to analyze [¹⁸F]-THK5351 retention. RESULTS: The nfvPPA patients exhibited higher [¹⁸F]-THK5351 retention in the the left inferior frontal and precentral gyri. In svPPA patients, [¹⁸F]-THK5351 retention was elevated in the anteroinferior and lateral temporal cortices compared to the NC group (left>right). The lvPPA patients exhibited predominant [¹⁸F]-THK5351 retention in the inferior parietal, lateral temporal, and dorsolateral prefrontal cortices, and the precuneus (left>right). [¹⁸F]-THK5351 retention in the left inferior frontal area was associated with lower fluency scores. Comprehension was correlated with [¹⁸F]-THK5351 retention in the left temporal cortices. Repetition was associated with [¹⁸F]-THK5351 retention in the left inferior parietal and posterior temporal areas, while naming difficulty was correlated with retention in the left fusiform and temporal cortices. CONCLUSIONS: The pattern of [¹⁸F]-THK5351 retention was well matched with clinical and radiological findings for each PPA subtype, in agreement with the anatomical and functional location of each language domain.
Aphasia, Primary Progressive ; Cognition ; Comprehension ; Humans ; Magnetic Resonance Imaging ; Neurofibrillary Tangles ; Neuropsychological Tests ; Parietal Lobe ; Positron-Emission Tomography ; Prefrontal Cortex ; Rabeprazole ; Semantics ; Temporal Lobe

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.

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.