Comparison of Two Variant Analysis Programs for Next-Generation Sequencing Data of Whole Mitochondrial Genome

Background@#With advance of next-generation sequencing (NGS) techniques, the need for mitochondrial DNA analysis is increasing not only in the forensic area, but also in medical fields. @*Methods@#Two commercial programs, Converge Software (CS) and Torrent Variant Caller for variant calling of NGS data, were compared with a considerable amount of sequence data of 50 samples with a homogeneous ethnicity. @*Results@#About 2,300 variants were identified and the two programs showed about 90% of consistency. CS, a dedicated analysis program for mitochondrial DNA, showed some advantages for forensic use. By additional visual inspection, several causes of discrepancy in variant calling results were identified. Application of different notation rules for mitochondrial sequence and the minor allele frequency close to detection threshold were the two most significant reasons. @*Conclusion@#With prospective improvement of each program, researchers and practitioners should be aware of characteristics of the analysis program they use and prepare their own strategies to determine variants.

Lack of association between the VEGFA gene polymorphisms and preterm birth in Korean women

Preterm birth (PTB), a pregnancy-related disease, is defined as a birth before 37 weeks of gestation. It is a major cause of maternal mortality and morbidity worldwide, and its incidence rate is steadily increasing. Various genetic factors can contribute to the etiology of PTB. Vascular endothelial growth factor A (VEGFA) gene is an important angiogenic gene and its polymorphisms have been reported to be associated with PTB development. Therefore, we conducted a case-control study to evaluate the association between VEGFA rs699947, rs2010963, and rs3025039 polymorphisms and PTB in Korean women. A total of 271 subjects (116 patients with PTB and 155 women at ≥38 weeks of gestation) were analyzed in this study. The genotyping of VEGFA gene polymorphisms was performed using polymerase chain reaction– restriction fragment length polymorphism. No significant association between the patients with PTB and the control groups was confirmed. In the combination analysis, we found a significant association between PTB and VEGFA rs699947 CC-rs2010963 GG-rs3025039 CC combination (odds ratio, 3.77; 95% confidence interval, 1.091 to 13.032; p = 0.031). The VEGFA rs699947, rs2010963, and rs3025039 polymorphisms might have no genetic association with the pathogenesis of PTB in Korean women. However, the combination analysis indicates the possibility that VEGFA acts in PTB pathophysiology. Therefore, larger sample sets and replication studies are required to further elucidate our findings.

Radiologic Follow-up of Ruptured Arachnoid Cysts With or Without Hemorrhage: Five Case Reports and a Review of the Literature

Arachnoid cysts are usually asymptomatic and discovered incidentally. However, cysts may occasionally rupture because of minor head trauma. We describe the radiologic follow-up of 5 patients with ruptured arachnoid cysts featuring spontaneous resolution, subdural hygroma formation, and cystic and subdural hemorrhage. From January 2004 through July 2020, 5 patients (1.3%) with ruptured arachnoid cysts were evaluated out of 388 patients with arachnoid cysts encountered at our institution at that time. The 5 patients were all male, and they ranged in age from 6–17 years (median, 12 years).The median duration of radiologic follow-up was 3.5 years (range, 2.3–10.1 years). All of the ruptured arachnoid cysts were overlying the temporal lobe with Galassi type II. The median cyst diameter was 4.9 cm (range, 4.4–8.9 cm). Four patients had a history of recent minor head trauma. There were no particular neurologic symptoms in their past medical history in all patients. In the follow-up, two patients’ cysts resolved spontaneously without hemorrhage. One patient’s cyst resolved post-burr-hole drainage for chronic subdural hemorrhage. Another patient, whose cyst led to a hemorrhage and chronic subdural hemorrhage, recovered following a craniotomy, hematoma removal, and cyst fenestration. Another patient, presenting with hygroma, cystic hemorrhage, and chronic subdural hemorrhage, was treated with burr-hole drainage. Three patients recovered postoperatively. Arachnoid cysts rarely rupture, and surgical intervention is required for some cases associated with hemorrhage. Postoperatively, all patients had good outcomes without complications in this series.

A case of vocal cord dysfunction diagnosed in a 10-year-old girl with recurrent wheezing and dyspnea

Vocal cord dysfunction is one of the causes of dyspnea and is characterized by paradoxical closure of the vocal cords. The paradoxical movement of the vocal cords produces the limitation of airflow, resulting dyspnea, chest tightening, hoarseness, stridor, or wheezing. These findings are similar to those of other upper airway obstruction diseases or asthma; therefore, a high index of suspicion and clear differential diagnosis are required. Here, we discuss a case of vocal cord dysfunction aged 10 years that presented recurrent wheezing and dyspnea. The abnormal movement of the vocal cords was observed by fiberoptic laryngotracheobronchoscopy, which was correlated with stridor during respiration. Repeated episodic symptoms were controlled by the multidisciplinary team approach; however, surgical treatment was needed to stabilize the symptom.

Effects of the Chin-Tuck Maneuver on Anatomical Changes and Angles during Swallowing:A Systematic Review / 대한연하장애학회지

Objective@#This study aimed at providing a critical review of the overall benefits of the chin-tuck maneuver through a systematic review of its effects when used in the treatment of dysphagia, as well as to provide basic data for a comparative analysis in future studies. @*Methods@#To identify academic papers on the chin-tuck maneuver published from January 2000 to January 2021, a literature search on three databases was performed using keywords, including chin-tuck, dysphagia, and head flexion. Out of the 712 related papers identified, the methodological characteristics and results of 12 selected studies were reviewed. @*Results@#Nine of the 12 studies found that the chin-tuck position not only helped in the opening of the upper esophageal sphincter (UES) but also reduced pharyngeal residues and prevented aspiration and penetration. In addition, three studies analyzed the position of the neck flexion angle and the changing angle when performing the chin-tuck maneuver. @*Conclusion@#This shows that the chin-tuck maneuver is an effective strategy in the treatment of dysphagia. In future studies, further investigation of the posture, angles, and effects of the chin-tuck maneuver, could help identify additional benefits of this treatment.

Necrotizing fasciitis due to late-onset group B streptococcal bacteremia in a 2-month-old girl

Necrotizing fasciitis (NF) is a severe soft tissue infection, characterized by rapid and fulminant progression. Thus, early suspicion, and prompt medical and aggressive surgical management are important for the clinical outcomes of NF. Despite the rarity of NF in infants and group B streptococcus as its cause, a 2-month-old preterm girl presented with NF involving the suprapubic, inguinal, and lower lateral abdominal regions caused by group B streptococcus. The girl recovered after early medical and surgical management.

Symptom Experience, Social Support, and Quality of Life in Patients with Hematologic Malignancies Undergoing Chemotherapy

Purpose@#The purpose of this study was to identify symptom experience, social support, quality of life (QOL), and the influencing factors on QOL of patients with hematologic malignancies undergoing chemotherapy. @*Methods@#A cross-sectional study was conducted on 118 patients diagnosed with hematologic malignancies undergoing chemotherapy who visited an outpatient clinic in the Gyeonggi province. The Functional Assessment of Cancer Therapy-General (FACT-G), MD Anderson Symptom Inventory (MDASI), and the Multidimensional Scale of Perceived Social Support (MSPSS) were used to assess predictors and QOL. The data were analyzed using the Pearson correlation, t-test, ANOVA, and hierarchical multiple regression. @*Results@#The mean score of QOL was (69.32±14.34). The type of hematologic malignancies and patient’s occupation were significantly associated with QOL in terms of demographic and disease/treatment-related characteristics. Symptom severity and symptom influence, and the support of family, friends, and medical staff had a significant association with QOL. The regression analyses showed that symptom severity (β=-.41, p<.001), friend support (β=.27, p=.001), and occupation (β=.14, p=.034) were significantly associated with QOL. @*Conclusion@#The variables of symptom experience and social support must be acknowledged when improving QOL of hematologic malignancy patients undergoing chemotherapy. Greater focus on the reduction of symptom severity and increasing friend support could improve QOL among hematologic malignancy patients.

Changes in allergen sensitization in children with allergic diseases in the 1980 to 2019

Purpose@#Allergen sensitization is constantly changing, and understanding these changes can help manage and prevent allergic diseases. This research analyzed and compared the changes in allergen sensitization in children diagnosed with allergic diseases using the skin test and the multiple allergen simultaneous test. @*Methods@#We retrospectively analyzed the data on children who were diagnosed with allergic diseases and received immunotherapy at Yonsei Medical Center from 1980 to 1998 and they were screened for allergen sensitization at Severance Hospital from 2005 to 2019. @*Results@#Between 1980 and 1998, and between 2005 and 2019, data on 3,205 (male, 70.3%; mean age, 7.2 ± 2.9 years) and 15,318 children (male, 62.8%; mean age, 8.8 ± 4.5 years) were analyzed. The sensitized allergens that appeared in the 1980–1998 included Dermatophagoides farinae (91.0%), Dermatophagoides pteronyssinus (76.3%), cockroach (13.5%), and Alternaria (11.5%), in order of frequency; further, the sensitized allergens that appeared in the 2005–2019 included D. farinae (45.0%), D. pteronyssinus (39.6%), cat dander (12.2%), and dog dander (9.1%), in order of frequency. D. farinae and D. pteronyssinus demonstrated the highest sensitization rates, although the rates decreased gradually. The sensitization to cat dander and dog dander showed a growing trend, and sensitization to Humulus japonicus, Candida, and cockroach decreased after 2005. @*Conclusion@#Over the past 40 years, the allergen sensitization in Korean children with allergic diseases has increased. These changes reflect lifestyle and environmental changes and influence allergic disease management approaches. Thus, changes in allergic sensitization should be monitored continuously.

Factors Affecting the Parental Stress of Children and Adolescents with Epilepsy / 정신신체의학

Objectives@#：The aim of this study was to investigate the impact of clinical and psychological factors on the parental stress of children and adolescents with epilepsy. @*Methods@#：Children and adolescents with epilepsy (n=90, age range=6-17 years) completed questionnaires on epilepsy-related variables, children’s depressive symptoms (Children’s Depression Inventory, CDI), children’s anxiety (Revised Children’s Manifest Anxiety Scale, RCMAS) and performed the scale for children’s intelligence (IQ). Parents who have children and adolescents with epilepsy completed questionnaires on parental stress (Questionnaire on Resources and stress, QRS), parental anxiety (State-Trait Anxiety Inventory, STAI), children’s attention problems (Abbreviated Conners Parent Rating Scale Revised, CPRS), and children’s behavioral problems (Korean Child Behavior Checklist, K-CBCL). Stepwise regression analysis was performed to determine the significant predictive variables that affect parental stress. @*Results@#：In the correlational analysis, duration of seizure treatment (r=0.253, p=0.016), children’s IQ (r= -0.544, p<0.001), children’s attention problems (r=0.602, p<0.001), children’s depressive symptoms (r=0.335, p=0.002), children’s anxiety (r=0.306, p=0.004), children’s behavioral problems (r=0.618, p<0.001), and parental anxiety (r=0.478, p<0.001), showed a significant correlation with parental stress. Children’s behavioral problem (β=0.241, p=0.010), children’s IQ (β=-0.472, p<0.001), and parental anxiety (β=0.426, p<0.001) were significantly related to the parental stress (Adjusted R2=0.619). @*Conclusions@#：Clinicians should pay attention to children’s intelligence and behavioral problems and parental anxiety, which affect parental stress with children and adolescents with epilepsy.

Effects of Workplace Risk Assessment-based Ergonomic Intervention on Work-Related Muscular Skeletal Disorders: Systematic Literature Review and Meta-Analysis / 한국직업건강간호학회지

Purpose@#This study aimed to systematically review literature and conduct a meta-analysis to comprehensively identify and evaluate the effects of workplace risk assessment-based ergonomic intervention on work-related muscular-skeletal disorders in workers. @*Methods@#We searched the Ovid-Medline, EMBASE, and Cochrane library and up to 2018 using search terms such as muscular-skeletal, disorder, impairment, work-related muscular-skeletal disorders, ergonomic, intervention, management with no language limitations; screened reference lists; and contacted experts in the field. @*Results@#We identified 545 references and included 13 randomized controlled tests (3,368 workers). We judged nine studies to have a low risk of bias, while the other four studies have a high risk of bias. @*Conclusion@#Ergonomic intervention based on risk assessment in the workplace did not significantly differ in terms of the intensity of pain or duration of workers in the workplace, but low-quality evidence decreased the frequency of musculoskeletal disorder pain in three to six months moderate-quality evidence and in six to nine months low-quality evidence. Besides, low-quality evidence to reduce discomfort and moderate-quality evidence to improve worker posture. Therefore, ergonomic intervention based on the assessment of risk factors in the workplace should be applied to reduce pain frequency and discomfort and improve workers posture among musculoskeletal disorders.

Stem Cells Seeded on Multilayered Scaffolds Implanted into an Injured Bladder Rat Model Improves Bladder Function

BACKGROUND: To investigate whether human adipose-derived stem cells (hADSCs) seeded on multilayered poly (L-lactide-co-ε-caprolactone) (PLCL) sheets improve bladder function in a rat model of detrusor smooth muscle-removed bladder. METHODS: Male rats were randomly divided into 4 groups: Normal, injury (detrusor smooth muscle-removed bladder), PLCL (detrusor smooth muscle-removed bladder implanted with PLCL sheets), and PLCL + ADSC (detrusor smooth muscle-removed bladder implanted with PLCL sheets seeded with hADSCs). Four weeks after the treatment, physiological, histological, immunohistochemical, and immunoblot analyses were performed. RESULTS: hADSCs were compatible with PLCL sheets. Further, the physiological study of PLCL + ADSC group showed significant improvement in compliance and contractility suggesting the functional improvement of the bladder. Histological, immunohistochemical and immunoblot analyses revealed the uniform distribution of hADSCs in between PLCL sheets as well as differentiation of hADSCs into smooth muscle cells (SMC) which is illustrated by the expression of SMC markers. CONCLUSION: hADSCs seeded on the multilayered PLCL sheets has the potential to differentiate into SMC, thus facilitating the recovery of compliance and contractility of the injured bladder.

A Study on the Factors Affecting Quality of Life in Children and Adolescents with Epilepsy and Their Families

OBJECTIVES: The aim of this study was to investigate the impact of clinical and psychological factors on the quality of life of children and adolescents with epilepsy and their families.METHODS: Children and adolescents with epilepsy and their families (n = 63, age range = 6–17 years) completed questionnaires on epilepsy-related variables, quality of life, children's depressive symptoms, children's anxiety, children's behavioral problems, children's attention problems, parental stress, and parental anxiety. Stepwise regression analysis was performed to determine the significant predictive variables that affect quality of life.RESULTS: In the correlational analysis, children's attention problems (r = 0.363, p = 0.004), parental anxiety (r = 0.377, p = 0.003), parental stress (r = 0.564, p < 0.001), and children's behavioral problems (r = 0.503, p < 0.001) showed a significant correlation with quality of life. Parental stress (β = 0.415, p = 0.001, adjusted R² = 0.345) and children's behavioral problems (β = 0.285, p = 0.02, adjusted R² = 0.345) were significantly related to the quality of life.CONCLUSIONS: Clinicians should pay attention to parental stress and children's behavioral problems, which affect quality of life in families with pediatric epilepsy.

Clinical features and prognostic factors of early-onset sepsis: a 7.5-year experience in one neonatal intensive care unit / 소아과

PURPOSE: In this study, we investigated the clinical features and prognostic factors of early-onset sepsis (EOS) in neonatal intensive care unit (NICU) patients. METHODS: A retrospective analysis was conducted on medical records from January 2010 to June 2017 (7.5 years) of a university hospital NICU. RESULTS: There were 45 cases of EOS (1.2%) in 3,862 infants. The most common pathogen responsible for EOS was group B Streptococcus (GBS), implicated in 10 cases (22.2%), followed by Escherichia coli, implicated in 9 cases (20%). The frequency of gram-positive sepsis was higher in term than in preterm infants, whereas the rate of gram-negative infection was higher in preterm than in term infants (P < 0.05). The overall mortality was 37.8% (17 of 45), and 47% of deaths occurred within the first 3 days of infection. There were significant differences in terms of gestational age (26.8 weeks vs. 35.1 weeks) and birth weight (957 g vs. 2,520 g) between the death and survival groups. After adjustments based on the difference in gestational age and birth weight between the 2 groups, gram-negative pathogens (odds ratio [OR], 42; 95% confidence interval [CI], 1.4–1,281.8) and some clinical findings, such as neutropenia (OR, 46; 95% CI, 1.3–1,628.7) and decreased activity (OR, 34; 95% CI, 1.8–633.4), were found to be associated with fatality. CONCLUSION: The common pathogens found to be responsible for EOS in NICU patients are GBS and E. coli. Gram-negative bacterial infections, decreased activity in the early phase of infection, and neutropenia were associated with poor outcomes.

Clinical presentation of croup in children according to causative viruses

PURPOSE: We evaluated the clinical features of croup in children according to viral etiology. METHODS: This study enrolled pediatric patients with croup, who showed positive results on respiratory virus reverse transcriptase polymerase chain reaction performed between January 2012 and December 2017. We retrospectively reviewed the medical records. RESULTS: A total of 179 patients (119 boys and 60 girls) were enrolled with the mean age of 18.9±14.7 months. The viruses commonly identified were parainfluenza, respiratory syncytial virus, rhinovirus, and influenza. Among these 4 viruses, patients with rhinovirus infection showed significantly shorter fever and admission durations. Patients with parainfluenza infection showed significantly lower incidences of epinephrine nebulization and patients with influenza infections showed significantly higher incidences of steroid treatment. CONCLUSION: Clinical manifestations of croup differ according to causative viruses. Further studies should be conducted to evaluate the severity and prognosis of croup according to viral etiology.

Relationship between Functional Fitness and Break Response in Elderly Drivers: Comparison with Young Driver

PURPOSE: This study compared the functional fitness and brake response of elderly and young drivers to confirm the correlation between the functional fitness and brake response. METHODS: This study was a cross sectional observational design. Older drivers (>65age, n=21) and young adult drivers (20–40aged, n=20) were enrolled as subjects. The functional fitness of the subjects was measured using a senior fitness test consisting of a back scratch (BS), chair sit and reach (CSR), arm curl (AC), chair stand up (CSU), foot up and go (8-FUG), and 2-minute step (2-MS). The brake response used the virtual driving simulator to measure the brake reaction time (BRT) and braking distance (BD) according to the pedestrian protection and traffic signal compliance. RESULTS: The older drivers had a lower BS (p < 0.000), CSU (p=0.040), and 8-FUG (p=0.011) than the young adult drivers. BS and 8-FUG showed a significant positive correlation with the BRT and BD of pedestrian protection and traffic signal compliance. CSU showed a significant negative correlation with the BRT of pedestrian protection and traffic signal compliance. CONCLUSION: These findings suggest that the flexibility of the upper extremity, lower extremity strength, and agility are strongly correlated with the driving performance of elderly drivers.

A Study on Sociodemographic and Psychological Factors Affecting the Quality of Life in Urban-Dwelling Single Mothers / 신경정신의학

OBJECTIVES: The aim of this study was to examine socio-demographic and psychological variables and the correlation of their factors with quality of life (QOL) in urban-dwelling single mothers. METHODS: Participants were 195 single mothers living in an urban community in South Korea. Participants completed self-report questionnaires examining socio-demographic characteristics and including the following self-rating scales : the global assessment of recent stress, the center for epidemiologic studies depression scale, the scale for suicidal ideation, the Korean version of the alcohol use disorder identification test, and the World Health Organization QOL assessment instrument. RESULTS: Regarding socio-demographic variables, high educational level (p=0.009), high monthly income (p<0.001), living in own house (p<0.001), and divorced or separated on economic grounds (p<0.001) showed significantly high QOL in single mothers. Age (r=0.208, p=0.004) showed significant positive correlation with QOL ; stress (r=-0.254, p<0.001), depressive symptoms (r=-0.314, p<0.001), suicidal ideation (r=-0.217, p<0.001), and alcohol-related problems (r=-0.363, p<0.001) showed significant negative correlation with QOL. In multiple regression analysis, alcohol-related problems, financial cause of single motherhood, depressive symptoms, and income explained 37.7% of variance in total QOL. CONCLUSION: Interventions to promote QOL of single mothers should reduce the social burden and psychological problems on single mothers. Specifically, interventions providing psychological support should target new single mothers in order to reduce distress in single-mother families.