Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal location. However, offspring of an inversion carrier is at risk of chromosomal imbalance because an inversion loop can be formed during crossing-over of the paternal and the maternal chromosomes in meiosis. We report a 38-year-old woman with inversion and balanced translocation and her fetus with unusual rearrangement causing chromosomal imbalance. We performed conventional cytogenetic analysis, MLPA, and subtelomeric FISH in the cells of the embryo. The results showed that the distal portion of chromosome 13q was added to the terminal portion of chromosome 9p during crossing-over. Therefore, the final karyotype of the fetus was 46,XY,rec(9)t(9;13)(p22;q32)inv(9)(p12q13)mat, confirmed using molecular-cytogenetic analyzing tools.
Adult ; Cytogenetic Analysis ; Embryonic Structures ; Female ; Fetus ; Humans ; Karyotype ; Meiosis ; Pregnancy

BACKGROUND: Rehabilitations in subacute phase are different from acute treatments regarding the characteristics and required resource consumption of the treatments. Lack of accuracy and validity of the Korean Diagnosis Related Group and Korean Out-Patient Group for the acute patients as the case-mix and payment tool for rehabilitation inpatients have been problematic issues. The objective of the study was to develop the Korean Rehabilitation Patient Group (KRPG) reflecting the characteristics of rehabilitation inpatients. METHODS: As a retrospective medical record survey regarding rehabilitation inpatients, 4,207 episodes were collected through 42 hospitals. Considering the opinions of clinical experts and the decision-tree analysis, the variables for the KRPG system demonstrating the characteristics of rehabilitation inpatients were derived, and the splitting standards of the relevant variables were also set. Using the derived variables, we have drawn the rehabilitation inpatient classification model reflecting the clinical situation of Korea. The performance evaluation was conducted on the KRPG system. RESULTS: The KRPG was targeted at the inpatients with brain or spinal cord injury. The etiologic disease, functional status (cognitive function, activity of daily living, muscle strength, spasticity, level and grade of spinal cord injury), and the patient's age were the variables in the rehabilitation patients. The algorithm of KRPG system after applying the derived variables and total 204 rehabilitation patient groups were developed. The KRPG explained 11.8% of variance in charge for rehabilitation inpatients. It also explained 13.8% of variance in length of stay for them. CONCLUSION: The KRPG version 1.0 reflecting the clinical characteristics of rehabilitation inpatients was classified as 204 groups.
Brain ; Classification ; Diagnosis ; Humans ; Inpatients ; Korea ; Length of Stay ; Medical Records ; Muscle Spasticity ; Muscle Strength ; Outpatients ; Rehabilitation* ; Retrospective Studies ; Spinal Cord ; Spinal Cord Injuries

BACKGROUND: Heart rate (HR) is an essential vital sign based on the finding that HR beyond its normal range is associated with several conditions or diseases, including high mortality in several clinical settings. Nevertheless, the clinical implications of HR remain unresolved in patients undergoing continuous renal replacement therapy (CRRT). METHODS: This retrospective cohort study included 828 patients who underwent CRRT due to acute kidney injury between 2010 and 2014. HR and other baseline parameters at the time of CRRT initiation were retrieved. The odds ratio (OR) of 30-day mortality was calculated using a multivariate logistic model. RESULTS: CRRT significantly lowered the HR of patients such that the pre- and post-CRRT HRs (average 6 hours) were 107 beats/min and 103 beats/min, respectively (P < 0.001). When we explored the relationship with 30-day mortality, only HR at the time of CRRT initiation, but not pre- or post-CRRT HR, had a significant relationship with mortality outcome. Based on this result, we divided patients into quartiles of HR at the time of CRRT initiation. Mortality OR in the 4th quartile HR group was 2.6 (1.78–3.92) compared with the 1st quartile HR group. This relationship remained consistent despite adjusting for 28 baseline covariates: OR, 1.7 (1.09–2.76); P = 0.020. However, HR was not associated with the weaning rate from CRRT. CONCLUSION: High HR at the time of CRRT initiation is subsequently related with high mortality. These results can be a basis for a future predictive model of CRRT-related mortality.
Acute Kidney Injury ; Cohort Studies ; Heart Rate* ; Heart* ; Humans ; Logistic Models ; Mortality* ; Odds Ratio ; Reference Values ; Renal Replacement Therapy* ; Retrospective Studies ; Vital Signs ; Weaning

BACKGROUND AND OBJECTIVES: Cochlear dead region (CDR) is a region in the cochlear where hearing loss has occurred due to damage to the inner hair cells and/or neurons. Recently, a subjective test involving a pure-tone test in the presence of threshold-equalizing noise (TEN) was introduced to identify CDR. However, for uncooperative patients, such a subjective method would be unsuitable and objective methods would be needed instead to detect CDR. The acoustic change complex (ACC) is an evoked potential elicited by changes in the ongoing sound. In this study, we developed an objective method of identifying CDR by combining ACC response with a TEN test, namely the TEN-ACC test, and investigated its feasibility in normal-hearing listeners. SUBJECTS AND METHOD: Ten normal-hearing subjects participated in this study. All subjects underwent both behavioral TEN test and electrophysiological TEN-ACC test. The stimuli for the TEN-ACC test consisted of TEN and embedded pure tones with different frequencies/signals to noise ratios (SNRs). To identify the thresholds, the range SNR of stimulation was varied from 0 to 20 dB, in stages of 4 dB. RESULTS: The ACC responses of all subjects who participated in this study were well elicited by stimuli developed for the TEN-ACC test. We confirm that the pure-tones embedded in TEN elicited the objective ACC response. CONCLUSION: The results of this study suggest that the novel TEN-ACC test can be applied to evoke ACC in normal-hearing listeners. Future research should incorporate hearing-impaired listeners to determine the feasibility of the TEN-ACC test as an objective method to identify CDR.
Acoustics* ; Evoked Potentials ; Hair Cells, Auditory, Inner ; Hearing Loss ; Humans ; Methods ; Neurons ; Noise

Background and Objectives: The temporal structure of sound, characterized by regular patterns, plays a crucial role in optimizing the processing of auditory information. The meter, representing a well-organized sequence of evenly spaced beats in music, exhibits a hierarchical arrangement, with stronger beats occupying higher metrical positions. Moreover, the meter has been shown to influence behavioral and neural processing, particularly the N1, P2, and mismatch negativity components. However, the role of the P1 component in the context of metrical hierarchy remains unexplored. This study aimed to investigate the effects of metrical hierarchy on the P1 component and compare the responses between musicians and non-musicians. Subjects and Methods: Thirty participants (15 musicians and 15 non-musicians) were enrolled in the study. Auditory stimuli consisted of a synthesized speech syllable presented together with a repeating series of four tones, establishing a quadruple meter. Electrophysiological recordings were performed to measure the P1 component. Results: The results revealed that metrical position had a significant effect on P1 amplitude, with the strongest beat showing the lowest amplitude. This contrasts with previous findings, in which enhanced P1 responses were typically observed at on-the-beat positions. The reduced P1 response on the strong beat can be interpreted within the framework of predictive coding and temporal prediction, where a higher predictability of pitch changes at the strong beat leads to a reduction in the P1 response. Furthermore, higher P1 amplitudes were observed in musicians compared to non-musicians, suggesting that musicians have enhanced sensory processing. Conclusions This study demonstrates the effects of metrical hierarchy on the P1 component, thereby enriching our understanding of auditory processing. The results suggest that predictive coding and temporal prediction play important roles in shaping sensory processing. Further, they suggest that musical training may enhance P1 responses.

BACKGROUND AND PURPOSE: We investigated predictors of institutionalization in patients with Alzheimer's disease (AD) in South Korea. METHODS: In total, 2,470 patients with AD aged 74.5±7.8 years (mean±standard deviation, 68.1% females) were enrolled from November 2005 to December 2013. The dates of institutionalization were identified from the public Long-Term-Care Insurance program in January 2014. We used a Cox proportional-hazards model to identify predictors for future institutionalization among characteristics at the time of diagnosis in 2,470 AD patients. A similar Cox proportional-hazards model was also used to investigate predictors among variables that reflected longitudinal changes in clinical variables before institutionalization in 816 patients who underwent follow-up testing. RESULTS: A lower Mini Mental State Examination score [hazard ratio (HR)=0.95, 95% confidence interval (CI)=0.92–0.97] and higher scores for the Clinical Dementia Rating and Neuro-Psychiatric Inventory (HR=1.01, 95% CI=1.00–1.01) at baseline were independent predictors of institutionalization. The relationship of patients with their main caregivers, presence of the apolipoprotein E e4 allele, and medication at baseline were not significantly associated with the rate of institutionalization. In models with variables that exhibited longitudinal changes, larger annual change in Clinical Dementia Rating Sum of Boxes score (HR=1.15, 95% CI=1.06–1.23) and higher medication possession ratio of antipsychotics (HR=1.89, 95% CI=1.20–2.97) predicted earlier institutionalization. CONCLUSIONS: This study shows that among Korean patients with AD, lower cognitive ability, higher dementia severity, more-severe behavioral symptoms at baseline, more-rapid decline in dementia severity, and more-frequent use of antipsychotics are independent predictors of earlier institutionalization.
Alleles ; Alzheimer Disease* ; Antipsychotic Agents ; Apolipoproteins ; Behavioral Symptoms ; Caregivers ; Dementia ; Diagnosis ; Follow-Up Studies ; Humans ; Institutionalization* ; Insurance ; Korea*

Foxp3 is a master regulator of CD4⁺CD25⁺ regulatory T-cell (Treg) function and is also a suppressor of SKP2 and HER2/ErbB2. There are an increasing number of reports describing the functions of Foxp3 in cell types other than Tregs. In this context, we evaluated the functions of Foxp3 in ovalbumin- and cockroach-induced asthma models. Foxp3-EGFP-expressing adenovirus or EGFP control adenovirus was administered intratracheally (i.t.), followed by challenge with ovalbumin (OVA) or cockroach extract to induce asthma. Th2 cytokine and immune cell profiles of bronchoalveolar lavage fluid (BALF), as well as serum IgE levels, were analyzed. Histological analyses were also conducted to demonstrate the effects of Foxp3 expression on airway remodeling, goblet cell hyperplasia and inflammatory responses in the lung. Adenoviral Foxp3 was expressed only in lung epithelial cells, and not in CD4⁺ or CD8⁺ cells. BALF from Foxp3 gene-delivered mice showed significantly reduced numbers of total immune cells, eosinophils, neutrophils, macrophages and lymphocytes in response to cockroach allergen or OVA. In addition, Foxp3 expression in the lung reduced the levels of Th2 cytokines and IgE in BALF and serum, respectively. Moreover, histopathological analysis also showed that Foxp3 expression substantially inhibited eosinophil infiltration into the airways, goblet cell hyperplasia and smooth muscle cell hypertrophy. Furthermore, when Tregs were depleted by diphtheria toxin in Foxp3DTR mice, the anti-asthmatic functions of Foxp3 were not altered in OVA-challenged asthma models. In this study, our results suggest that Foxp3 expression in lung epithelial cells, and not in Tregs, inhibited OVA- and cockroach extract-induced asthma.
Adenoviridae ; Airway Remodeling ; Animals ; Asthma* ; Bronchoalveolar Lavage Fluid ; Cockroaches ; Cytokines ; Diphtheria Toxin ; Eosinophils ; Epithelial Cells* ; Goblet Cells ; Hyperplasia ; Hypertrophy ; Immunoglobulin E ; Inflammation* ; Lung* ; Lymphocytes ; Macrophages ; Mice ; Myocytes, Smooth Muscle ; Neutrophils ; Ovalbumin* ; Ovum ; T-Lymphocytes

PURPOSE: To decide the optimal treatment for breast cancer patients with locoregional recurrence (LRR), it is important to determine which group has the highest risk of subsequent distant metastasis (DM). We aimed to investigate the factors associated with DM in patients with LRR. METHODS: We reviewed the data of 208 patients with LRR as the first event after primary surgery for breast cancer at our institution between 1997 and 2010, to identify significant factors associated with DM. Subsequently, Kaplan-Meier curves and the Cox regression method were used to analyze the correlation between clinical factors and survival. RESULTS: DM occurred in 33.2% (68/208) of LRR patients. The median DM-free interval was 23 months. Some clinical factors were associated with DM in univariate analysis, including the type of primary surgery (p=0.026), tumor size (p=0.005), nodal status (p=0.011), and administration of initial adjuvant chemotherapy (p=0.001). In addition, regional rather than local recurrence and a disease-free interval (DFI; duration between primary surgery and LRR) < or =30 months were also significant (p<0.001 for both). However, only a shorter DFI reached significance in multiple logistic regression analysis. Cox regression analysis of DM-free survival showed that both a shorter DFI and regional recurrence were significant factors with hazard ratios of 2.1 (95% confidence interval [CI], 1.21-3.65) and 1.85 (95% CI, 1.04-3.28), respectively. CONCLUSION: DFI was the most important factor associated with subsequent DM in patients with LRR as a first event of failure.
Breast Neoplasms* ; Chemotherapy, Adjuvant ; Humans ; Logistic Models ; Neoplasm Metastasis* ; Neoplasm Recurrence, Local ; Prognosis ; Recurrence* ; Risk Factors*