Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing

Objective@#Sudden traumatic physical injuries often cause psychological distress, which may be associated with chronic disability. Although considerable effort has been expended to identify genetic predictors of post-traumatic stress disorder (PTSD) after traumatic events, genetic predictors of psychological distress in response to severe physical injuries have been yet to be elucidated using whole exome sequencing (WES). Here, the genetic architecture of post-traumatic syndrome (PTS), which encompasses a broad range of psychiatric disorders after traumatic events including depression, anxiety disorder, acute stress disorder, and PTSD, was explored using WES in severely physically injured patients, focusing on secondary findings and potential PTS-related variants. @*Methods@#In total, 141 severely physically injured patients were consecutively recruited, and PTS was evaluated within 1 month of the injury. Secondary findings were analyzed according to PTS status. To identify PTS-related variants, genome-wide association analyses and the optimal sequencing kernel association test were performed. @*Results@#Of the 141 patients, 88 (62%) experienced PTS. There were 108 disease-causing variants in severely physically injured patients. As secondary findings, the stress- and inflammation-related signaling pathways were enriched in the PTS patients, while the glucose metabolism pathway was enriched in those without PTS. However, no significant PTS-related variants were identified. @*Conclusion@#Our findings suggest that genetic alterations in stress and inflammatory pathways might increase the likelihood of PTS immediately after severe physical injury. Future studies with larger samples and longitudinal designs are needed.

Computational analysis of the electromechanical performance of mitral valve cerclage annuloplasty using a patient-specific ventricular model

We aimed to propose a novel computational approach to predict the electromechanical performance of pre- and post-mitral valve cerclage annuloplasty (MVCA). Furthermore, we tested a virtual estimation method to optimize the left ventricular basement tightening scheme using a pre-MVCA computer model. The present model combines the three-dimensional (3D) electromechanics of the ventricles with the vascular hemodynamics implemented in a lumped parameter model. 3D models of pre- and post-MVCA were reconstructed from the computed tomography (CT) images of two patients and simulated by solving the electromechanical-governing equations with the finite element method. Computed results indicate that reduction of the dilated heart chambers volume (reverse remodeling) appears to be dependent on ventricular stress distribution. Reduced ventricular stresses in the basement after MVCA treatment were observed in the patients who showed reverse remodeling of heart during follow up over 6 months. In the case who failed to show reverse remodeling after MVCA, more virtual tightening of the ventricular basement diameter than the actual model can induce stress unloading, aiding in heart recovery. The simulation result that virtual tightening of the ventricular basement resulted in a marked increase of myocardial stress unloading provides in silico evidence for a functional impact of MVCA treatment on cardiac mechanics and post-operative heart recovery. This technique contributes to establishing a pre-operative virtual rehearsal procedure before MVCA treatment by using patient-specific cardiac electromechanical modeling of pre-MVCA.

Risk factors for cytological progression in HPV 16 infected women with ASC-US or LSIL: The Korean HPV cohort

OBJECTIVE: This study was to identify the risk factors for cytological progression in women with atypical squamous cells of undetermined significance (ASC-US) or low-grade squamous intraepithelial lesions (LSIL). METHODS: We analyzed data from women infected with the human papillomavirus (HPV) who participated in the Korean HPV cohort study. The cohort recruited women aged 20–60 years with abnormal cervical cytology (ASC-US or LSIL) from April 2010. All women were followed-up at every 6-month intervals with cervical cytology and HPV DNA testing. RESULTS: Of the 1,158 women included, 654 (56.5%) and 504 (43.5%) women showed ASC-US and LSIL, respectively. At the time of enrollment, 143 women tested positive for HPV 16 (85 single and 58 multiple infections). Cervical cytology performed in the HPV 16-positive women showed progression in 27%, no change in 23%, and regression in 50% of the women at the six-month follow-up. The progression rate associated with HPV 16 infection was higher than that with infection caused by other HPV types (relative risk [RR], 1.75; 95% confidence interval [CI], 1.08–2.84; P=0.028). The cytological progression rate in women with persistent HPV 16 infection was higher than that in women with incidental or cleared infections (P < 0.001). Logistic regression analysis showed a significant relationship between cigarette smoking and cytological progression (RR, 4.15; 95% CI, 1.01–17.00). CONCLUSION: The cytological progression rate in HPV 16-positive women with ASC-US or LSIL is higher than that in women infected with other HPV types. Additionally, cigarette smoking may play a role in cytological progression.

Clinical Results of Arteriovenous Fistulas Constructed Using Autologous Vessels in End-Stage Renal Disease Patients on Hemodialysis

BACKGROUND: For hemodialysis patients with end-stage renal disease (ESRD), it is important to construct an efficient vascular access with a superior patency rate. This study investigated the factors influencing the efficiency of arteriovenous fistulas (AVFs) constructed using an autologous vessel and evaluated the necessity of ultrasonography as a preoperative tool for AVF construction. METHODS: A retrospective analysis was performed of 250 patients in whom an AVF was constructed using an autologous vessel due to ESRD at our institution from January 2009 to April 2016. RESULTS: The 1-, 3-, and 5-year patency rates for all subjects were 87.6%, 85.6%, and 84.4%, respectively. The patients who underwent a preoperative evaluation of their vessels via ultrasonography had better patency rates than those who did not. Superior patency rates were found in patients under 65 years of age or with an anastomotic vein diameter of 3 mm or more. The 1-year patency rate and the diameter of the anastomotic vein showed a positive relationship. CONCLUSION: Ultrasonography is strongly recommended for AVF construction, and efforts should be made to increase the patency rate in patients over 65. Superior clinical results can be expected when an AVF is made using an autologous vessel with an anastomotic vein diameter of at least 3 mm.

Prevalence of group B streptococcus colonization in pregnant women in a tertiary care center in Korea

OBJECTIVE: The purpose of this study was to evaluate the group B streptococcus (GBS) colonization rate in pregnant Korean women using selective culture media for GBS and to identify obstetrical complications and GBS-induced early-onset neonatal sepsis. METHODS: We evaluated 1,014 pregnant women who delivered at Busan Paik Hospital between January 2015 and December 2016. GBS colonization was assessed using chromID Strepto B agar. We evaluated GBS colonization in pregnant women, as well as the obstetrical complication and GBS-induced neonatal sepsis rates. RESULTS: The total GBS colonization rate was 11.6% (117/1,014). No significant increase was observed in the rate of pregnancy-related complications between the GBS-positive and the GBS-negative groups. Among the 134 neonates born to colonized mothers, early neonatal sepsis was reported in 2 neonates (1.5%); however, these were cases of non-GBS-induced sepsis. CONCLUSION: The GBS colonization rate (using selective culture media) in this study involving pregnant Korean women showed a higher colonization rate than that previously reported in Korea. Therefore, based on this study, we recommend GBS screening and the administration of intrapartum antibiotic prophylaxis in pregnant Korean women.

Laparoscopic total extraperitoneal hernia repair of fallopian tube indirect inguinal hernia in reproductive aged woman: a case report

An indirect inguinal hernia containing the fallopian tube alone is extremely rare in reproductive-aged women without any genital tract anomalies. Despite this rarity, early diagnosis and adequate management is important to prevent strangulation and recurrence. We present a case of an indirect inguinal hernia containing only the fallopian tube in the hernia sac, which was successfully reduced by using a laparoscopic total extraperitoneal approach and repaired with a polypropylene mesh.

Herlyn-Werner-Wunderlich syndrome: An unusual presentation with pyocolpos

Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information. The optimal treatment is full excision and marsupialization of the obstructing vaginal septum so that both uteri can drain through the patent vagina. The authors report a case of a 22-year-old female with an unusual presentation of Herlyn-Werner-Wunderlich syndrome complicated by pyocolpos, which was successfully managed by vaginal septum resection and drainage of pus.

Female with 46, XY karyotype

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

Is massive proteinuria associated with maternal and fetal morbidities in preeclampsia?

OBJECTIVE: The aim of this study was to investigate whether massive proteinuria in preeclampsia is associated with maternal and fetal complications. METHODS: We retrospectively analyzed the clinical records of 233 patients who were diagnosed with preeclampsia. We divided the preeclamptic patients into three groups based on the amount of proteinuria: massive (≥5 g/24 hr), moderate (2 to 5 g/24 hr) and mild (<2 g/24 hr) proteinuria group. We analyzed the clinical characteristics and maternal and neonatal complications among three groups. RESULTS: Gestational age at diagnosis and delivery were lower in women with massive and moderate proteinuria group than women with mild proteinuria group (31.5±3.1 vs. 32.3±3.6 vs. 34.0±3.5 weeks, P<0.001 for gestational weeks at diagnosis; 34.6±3.6 vs. 35.1±4.1 vs. 36.9±4.0 weeks, P=0.001 for gestational age at delivery). In maternal complications, the incidences of pleural effusion and retinal detachment were significantly different among three groups (29.9% vs. 22.4% vs. 9.0%, P=0.004 for pleural effusion; 11.5% vs. 3.0% vs. 1.3%, P=0.009 for retinal detachment). Creatinine levels were higher and albumin levels were lower in the massive proteinuria group than in the moderate and mild groups. However, other maternal and neonatal complications were not significantly different among three groups. CONCLUSION: Massive proteinuria might be associated with renal albumin excretion-related morbidity, such as pleural effusion, retinal detachment, and low serum albumin levels. Furthermore, it was associated with early-onset preeclampsia and early delivery.

Chorioamniotic membrane separation caused by the seromucinous collection from a placental chorioangioma

Placental chorioangioma is a benign non-trophoblastic tumor of the placenta that can have various adverse effects on the mother and fetus depending on its size. Chorioamniotic membrane separation is rare condition of detachment between the amniotic membrane and chorionic membrane. Chorioamniotic membrane separation after the second trimester of pregnancy is usually occurs after invasive procedures or may occur spontaneously; it is mostly associated with fetal abnormalities. Here, we report a case of chorioamniotic membrane separation that might be occurred caused by the seromucinous secretion from a placental chorioangioma.

Advanced chronic kidney disease: a strong risk factor for Clostridium difficile infection

BACKGROUND/AIMS: It has been suggested that chronic kidney disease (CKD) is a risk factor for Clostridium difficile infection (CDI) and is associated with increased mortality among patients infected with C. difficile. However, recent studies of the clinical impact of CKD on CDI in Asians are still insufficient. We sought to determine the relationship between CKD and CDI in a Korean population. METHODS: This was a single-center, retrospective case-control study. In total, 171 patients with CDI were included as cases and 342 age- and gender-matched patients without CDI were used as controls. We compared the prevalence of CKD in the study sample and identified independent risk factors that could predict the development or prognosis of CDI. RESULTS: Independent risk factors for CDI included stage IV to V CKD not requiring dialysis (odds ratio [OR], 2.90) and end-stage renal disease requiring dialysis (OR, 3.34). Patients with more advanced CKD (estimated glomerular filtration rate < 30) and CDI showed higher in-hospital mortality and poorer responses to the initial metronidazole therapy. CONCLUSIONS: More advanced CKD is an independent risk factor for CDI and is associated with higher in-hospital mortality and poor treatment responses in CDI patients. Thus, in CKD patients, careful attention should be paid to the occurrence of CDI and its management to improve the outcome of CDI.

A Case of Severe Thoracoabdominal Impalement by a Steel Bar

A 53-year-old man arrived at the trauma center with a steel bar penetrating from the epigastrium to the right scapula. He was hypotensive and hypoxic, and immediate resuscitation and basic evaluation were performed. An emergency operation was performed due to an unstable hemodynamic state. Multiple injuries were confirmed in the right lower lobe, posterior chest wall, diaphragm, and liver lateral segment. Right lower lobectomy and liver lateral sectionectomy were performed following removal of the bar. The patient recovered without additional hemorrhage after the surgery, and was transferred to a rehabilitation institution with periodic follow-up.

The Impact of High-Risk HPV Genotypes Other Than HPV 16/18 on the Natural Course of Abnormal Cervical Cytology: A Korean HPV Cohort Study / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The purpose of this study is to evaluate the impact of high-risk human papillomaviruses (HPVs) other than HPV 16/18 on the natural course of atypical squamous cells of undetermined significance (ASC-US) or low-grade squamous intraepithelial lesion (LSIL). MATERIALS AND METHODS: The study population was derived from the Korean HPV cohort (2010-2014). Women aged 20 to 60 who satisfied the criteria of having both HPV infection and abnormal cervical cytology of either ASC-US or LSIL were recruited from five institutions nationwide. Enrolled patients underwent cervical cytology and HPV DNA testing every 6 months. RESULTS: A total of 1,158 patients were enrolled. The 10 most common HPV types were HPV 16 (12.3%), 58 (10.0%), 56 (8.8%), 53 (8.4%), 52 (7.7%), 39 (6.2%), 18 (6.0%), 51 (5.7%), 68 (5.1%), and 66 (4.6%). Among these patients, 636 women were positive for high-risk HPVs other than HPV 16 or 18, and 429 women were followed for more than 6 months. Cytology evaluations showed progression in 15.3% of women, no change in 22.6%, and regression in 62.1% of women at 12 months. In cases of HPV 58 single infection, a more highly significant progression rate, compared to other high-risk types, was observed at 6 months (relative risk [RR], 3.3; 95% confidence interval [CI], 2.04 to 5.30; p < 0.001) and 12 months (RR, 5.03; 95% CI, 2.56 to 9.91; p < 0.001). CONCLUSION: HPV genotypes numbered in the 50s were frequent in Korean women with ASC-US and LSIL. HPV 58 was the second most common type, with a high progression rate of cervical cytology.

Clinical Characteristics of Spontaneous Downbeat Nystagmus in Koreans: Analysis of 218 Cases

BACKGROUND: Downbeat nystagmus is the most-common type of central nystagmus. However, no published study has attempted to analyze the etiology and clinical features of downbeat nystagmus in a large sample of Korean patients. METHODS: We analyzed the demographic and clinical features of spontaneous downbeat nystagmus in 218 Korean patients who had been evaluated at the Dizziness Clinic of Seoul National University Bundang Hospital from 2003 to 2014. RESULTS: All patients were aged from 15 to 92 years (mean+/-SD: 58.7+/-18.0 years), and they included 117 (53.7%) men. Underlying causes were found in 162 patients (74.3%, secondary group), while no etiology was identified in the remaining patients (idiopathic group). The age and sex distributions did not differ between the idiopathic and secondary groups. The underlying etiology included hereditary disorders (n=48, 22.0%), vascular diseases (n=46, 21.1%), and inflammatory diseases (n=19, 8.7%). Infarctions (n=34, 15.6%) and episodic ataxia (n=32, 14.7%) were the most-frequent underlying disorders. The most-common site of lesions identified by MRI was the cerebellum (68.9%), followed by the brainstem (28.6%). Among the 74 patients with lesions confirmed by MRI, 25 (33.7%) showed an isolated cerebellar involvement, while 35 (47.6%) had lesions in multiple areas. CONCLUSIONS: This study extends the clinical features of spontaneous downbeat nystagmus to Korean patients. Cerebellum is the most-common lesion site, which is consistent with the results of previous studies. The prevalence of Arnold-Chiari malformation is relatively low, which may be a distinct finding relative to those of previous studies involving other ethnic populations.

An Autopsy Case of Frontotemporal Dementia with Motor Neuron Disease

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.

An Autopsy Case of Frontotemporal Dementia with Motor Neuron Disease

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.

Headache Caused by Chronic Carbon Monoxide Exposure

No abstract available.

Endometrial cancer arising from atypical complex hyperplasia: The significance in an endometrial biopsy and a diagnostic challenge

OBJECTIVE: We investigated the features of endometrial hyperplasia with concurrent endometrial cancer that had been diagnosed by endometrial sampling. Further, we attempted to identify an accurate differential diagnostic method. METHODS: We retrospectively studied 125 patients who underwent a diagnostic endometrial biopsy or were diagnosed after the surgical treatment of other gynecological lesions, such as leiomyoma or polyps. Patients were diagnosed between January 2005 and December 2013 at Busan Paik Hospital. Clinical and histopathological characteristics were compared in patients who had atypical endometrial hyperplasia with and without concurrent endometrial cancer. RESULTS: The patients were grouped based on the final pathology reports. One hundred seventeen patients were diagnosed with endometrial hyperplasia and eight patients were diagnosed with endometrioid adenocarcinoma arising from atypical hyperplasia. Of the 26 patients who had been diagnosed with atypical endometrial hyperplasia by office-based endometrial biopsy, eight (30.8%) were subsequently diagnosed with endometrial cancer after they had undergone hysterectomy. The patients with endometrial cancer arising from endometrial hyperplasia were younger (39.1 vs. 47.2 years, P=0.0104) and more obese (body mass index 26.1+/-9.6 vs. 23.8+/-2.8 kg/m2, P=0.3560) than the patients with endometrial hyperplasia. The correlation rate between the pathology of the endometrial samples and the final diagnosis of endometrial hyperplasia was 67.3%. CONCLUSION: In patients with atypical endometrial hyperplasia, the detection of endometrial cancer before hysterectomy can decrease the risk of suboptimal treatment. The accuracy of endometrial sampling for the diagnosis of concurrent endometrial carcinoma was much lower than that for atypical endometrial hyperplasia. Therefore, concurrent endometrial carcinoma should be suspected and surgical intervention should be considered in young or obese patients who present with atypical endometrial hyperplasia.

Noise in hospital rooms and sleep disturbance in hospitalized medical patients

OBJECTIVES: Hospitalized patients are vulnerable to sleep disturbances because of environmental stresses including noise. While most previous studies on hospital noise and sleep have been performed for medical machines in intensive care units, there is a limited data for patients hospitalized in medical wardrooms. The purpose of present study was to measure noise level of medical wardrooms, identify patient-perceived sources of noise, and to examine the association between noise levels and sleep disturbances in hospitalized patients. METHODS: Noise dosimeters were used to measure noise level in 29 inpatient wardrooms at a university hospital. Sleep pattern and disturbance were assessed in 103 hospitalized patients, using the Pittsburgh Sleep Quality Index (PSQI) and Leeds Sleep Evaluation Questionnaire. RESULTS: The mean equivalent continuous noise level for 24 hours was 63.5 decibel A (dBA), which was far higher than 30 dBA recommended by the World Health Organization for hospital wardrooms. Other patients sharing a room were perceived as the most common source of noise by the patients, which was usually preventable. Of the patients in the study, 86% had bad sleep as assessed by the PSQI. The sleep disturbance was significantly correlated with increasing noise levels in a dose response manner. CONCLUSIONS: Systemic organizational interventions are needed to keep wardrooms private and quiet to reduce sleep disturbance.

Blood Gases during Cardiopulmonary Resuscitation in Predicting Arrest Cause between Primary Cardiac Arrest and Asphyxial Arrest / 대한구급학회지

BACKGROUND: If acid-base status and electrolytes on blood gases during cardiopulmonary resuscitation (CPR) differ between the arrest causes, this difference may aid in differentiating the arrest cause. We sought to assess the ability of blood gases during CPR to predict the arrest cause between primary cardiac arrest and asphyxial arrest. METHODS: A retrospective study was conducted on adult out-of-hospital cardiac arrest patients for whom blood gas analysis was performed during CPR on emergency department arrival. Patients were divided into two groups according to the arrest cause: a primary cardiac arrest group and an asphyxial arrest group. Acid-base status and electrolytes during CPR were compared between the two groups. RESULTS: Presumed arterial samples showed higher potassium in the asphyxial arrest group (p < 0.001). On the other hand, presumed venous samples showed higher potassium (p = 0.001) and PCO2 (p < 0.001) and lower pH (p = 0.008) and oxygen saturation (p = 0.01) in the asphyxial arrest group. Multiple logistic regression analyses revealed that arterial potassium (OR 5.207, 95% CI 1.430-18.964, p = 0.012) and venous PCO2 (OR 1.049, 95% CI 1.021-1.078, p < 0.001) were independent predictors of asphyxial arrest. Receiver operating characteristic curve analyses indicated an optimal cut-off value for arterial potassium of 6.1 mEq/L (sensitivity 100% and specificity 86.4%) and for venous PCO2 of 70.9 mmHg (sensitivity 84.6% and specificity 65.9%). CONCLUSIONS: The present study indicates that blood gases during CPR can be used to predict the arrest cause. These findings should be confirmed through further studies.