PURPOSE: The purpose of this cross-sectional study was to examine the relationship between characteristics of severe ALS patient-caregiver couples and health related quality of life (HRQoL) in family caregivers. METHODS: The participants in this study were 89 pairs of ALS patients using ventilators and a family caregiver. The characteristics of the ALS patients and caregivers, Korean-Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised, Zarit Burden Interview and SF-36 were measured in this study. The data were collected from August 2008 to April 2009. Descriptive statistics, Pearson correlation coefficients, and canonical correlation were used for data analysis. RESULTS: The physical component summary and mental component summary of the HRQoL score for family caregivers were 147.49+/-31.63 and 129.09+/-35.83, respectively. HRQoL for caregivers was related to characteristics of the ALS patient-caregiver couples, such as patient's gender, caregiver's age, gender, marital status, daily time spent in caregiving and burden with one significant canonical variable. The significant variate showed that the lower the age, the time spent in caregiving and the burden of caregivers, the higher the HRQoL of caregivers. CONCLUSION: The support systems for caregivers considering caregiver characteristics such as demographics and burden should be implemented to improve the HRQoL of caregivers.
Adult ; Aged ; Amyotrophic Lateral Sclerosis/*psychology ; Caregivers/*psychology ; Cross-Sectional Studies ; Dependency (Psychology) ; Female ; Humans ; Interviews as Topic ; Male ; Middle Aged ; *Quality of Life ; Questionnaires ; Ventilators, Mechanical

OBJECTIVE: To investigate the current status of respiratory care in community-dwelling amyotrophic lateral sclerosis (ALS) patients using non-invasive ventilatory support. METHOD: Trained investigators visited patients' homes in order to conduct the survey. Questions regarding the time since diagnosis and ventilatory support, department and type of ventilator were asked. The parameters of mechanical ventilation were noted. The presence of respiratory symptoms, frequency of oxygen saturation monitoring, maneuvers for sputum clearance and frequency of air stacking exercise were also investigated. RESULTS: Data from 169 individuals were analyzed. The mean age was 59.1+/-12.5 years, time since diagnosis was 48.0+/-42.8 months and duration of ventilatory support was 25.7+/-20.8 months. The types of ventilator used were significantly different according to the medical departments where they had been prescribed. More than 50% of the subjects had sleep awakening, shortness of breath or daytime drowsiness despite ventilatory support. Air stacking exercises were performed in 8.8%. Sputum clearing maneuvers such as manually assisted cough, mechanical in/ex-sufflation or postural drainage were used by 13.6% of the individuals. Only 16.0% of the patients checked their oxygen saturation level more than once a day. CONCLUSION: Current respiratory care is inappropriate in ALS patients using non-invasive ventilatory support at home. The current system for ventilator prescription and monitoring needs modification to improve the respiratory care status.
Amyotrophic Lateral Sclerosis ; Cough ; Drainage, Postural ; Dyspnea ; Exercise ; Humans ; Oxygen ; Positive-Pressure Respiration ; Prescriptions ; Research Personnel ; Respiration, Artificial ; Respiratory Therapy ; Sleep Stages ; Sputum ; Ventilators, Mechanical

OBJECTIVE: To describe the quality of life (QOL) and care burden of caregivers of ventilator-dependent amyotrophic lateral sclerosis (ALS) patients and to compare the QOL of ALS caregivers with that of dementia caregivers. METHOD: Ninety-one pairs of ALS patients and their caregivers were interviewed. Patients were asked to provide their age, sex, time since diagnosis, and length of ventilator use, as well as complete the ALS functional rating scale-revised (ALSFRS-R). Caregivers were asked to provide baseline demographic data including age, sex, education level, marital status, link with the patient, occupation, care time, substitute caregiver, and personal caregiver. The short form-36 (SF-36) and burden interview (BI) were also administered to evaluate caregivers' QOL and care burden. T-tests, ANOVA, and Pearson correlation coefficients were used for data analysis. RESULTS: Ninety-one pairs of patients (men 69.2%, women 30.8%) and caregivers (men 24.2%, women 73.6%) completed the study. The mean SF-36 physical component summary (PCS), mental component summary (MCS), and total scores of caregivers were 131.5+/-13.2, 114.3+/-17.6, 245.8+/-28.2, respectively, which showed that the QOL of ventilator-dependent ALS patients was decreased. The BI score was 52.8+/-17.8, which meant that caregivers were heavily burdened. The SF-36 total and MCS were correlated with the BI. Care time was an important factor that influenced QOL and care burden. QOL was significantly lower for ventilator-dependent ALS caregivers than for dementia caregivers. CONCLUSION: This survey revealed the poor QOL and heavy burden of ventilator-dependent ALS caregivers, which necessitates social interventions including strategies about care time.
Aluminum Hydroxide ; Amyotrophic Lateral Sclerosis ; Carbonates ; Caregivers ; Cost of Illness ; Dementia ; Female ; Humans ; Marital Status ; Occupations ; Quality of Life ; Statistics as Topic ; Ventilators, Mechanical

Clostridium difficile (C. difficile) is a common causative agent of pseudomembranous colitis (PMC). C. difficile-associated diarrhea (CDAD) ranges from mild diarrhea to life threatening PMC. Recently, a highly virulent strain of C. difficile polymerase chain reaction ribotype 027 was found in North America, Europe, and Japan. A 52-yr-old woman with anti-tuberculosis medication and neurogenic bladder due to traffic accident experienced five episodes of C. difficile PMC after taking antibiotics for pneumonia along with septic shock and acute renal failure. She was readmitted to the intensive care unit and treated with oral vancomycin with refractory of oral metronidazole, inotropics and probiotics for over 60 days. C. difficile isolated both at the first and the last admission was identified as C. difficile ribotype 027 by ribotyping, toxinotyping, and tcdC gene sequencing, which turned out the same pathogen as the epidemic hypervirulent B1/NAP1 strain. This is the first case of C. difficile PCR ribotype 027 in Korea. After discharge, she was maintained on probiotics and rifaximin for 3 weeks. She had no relapse for 6 months.
Accidents, Traffic ; Antitubercular Agents/therapeutic use ; Base Sequence ; Clostridium difficile/*classification/genetics/isolation & purification ; Enterocolitis, Pseudomembranous/*diagnosis/drug therapy/*microbiology ; Female ; Humans ; Kidney Failure, Acute/diagnosis ; Korea ; Middle Aged ; Molecular Sequence Data ; Polymerase Chain Reaction ; Ribotyping ; Shock, Septic/diagnosis

BACKGROUND: In patients with isolated thrombocytopenia, but without significant dysplasia, diagnosis of idiopathic thrombocytopenic purpura (ITP) rather than myelodysplastic syndrome (MDS) may be taken into account. It is important to make an accurate diagnosis because different treatments are used for ITP and MDS. The purpose of this study was to investigate the clinical and hematologic features of patients who were initially diagnosed as ITP but had cytogenetic abnormalities. METHODS: We retrospectively reviewed cytogenetic studies of 100 patients who were diagnosed as ITP from 2004 to 2009 at Mokdong Hospital of Ewha Womans University based on clinical features and hematologic studies. Bone marrow pathology was re-evaluated based on 2008 WHO classification. Cytogenetic analysis was performed by 24-48 hr culture of bone marrow aspirates without using mitogens and 20 metaphases were analyzed. RESULTS: Of the 100 patients diagnosed as ITP initially, three patients (3%) had cytogenetic abnormalities. They had no thrombocytopenia-related symptoms and thrombocytopenia was found accidentally. The numbers of megakaryocytes in bone marrow were increased and dysplasia was not found in megakaryocyte, erythroid, and myeloid cell lineages. The proportion of blasts was within normal limits. Clonal chromosomal abnormalities found were der(1;7)(q10;p10), add(9)(q12), or t(7;11)(p22;q12). Presumptive diagnosis of MDS or diagnosis of idiopathic cytopenia of undetermined significance (ICUS) was made according to 2008 WHO classification. During the follow up, disease progression was not found. CONCLUSIONS: In patients with suspected ITP, cytogenetic analysis should be done. If specific clonal chromosomal abnormality is found, presumptive diagnosis of MDS has to be considered and close follow up is needed.
Adult ; Bone Marrow Cells/cytology ; Cell Lineage ; Chromosome Aberrations ; Diagnosis, Differential ; Female ; Humans ; Male ; Megakaryocytes/immunology/pathology ; Middle Aged ; Myelodysplastic Syndromes/*diagnosis/genetics/pathology ; Purpura, Thrombocytopenic, Idiopathic/*diagnosis/genetics/pathology ; Retrospective Studies

OBJECTIVE: To evaluate the accuracy of the swallowing kinematic analysis. METHODS: To evaluate the accuracy at various velocities of movement, we developed an instrumental model of linear and rotational movement, representing the physiologic movement of the hyoid and epiglottis, respectively. A still image of 8 objects was also used for measuring the length of the objects as a basic screening, and 18 movie files of the instrumental model, taken from videofluoroscopy with different velocities. The images and movie files were digitized and analyzed by an experienced examiner, who was blinded to the study. RESULTS: The Pearson correlation coefficients between the measured and instrumental reference values were over 0.99 (p<0.001) for all of the analyses. Bland-Altman plots showed narrow ranges of the 95% confidence interval of agreement between the measured and reference values as follows: 0.14 to 0.94 mm for distances in a still image, -0.14 to 1.09 mm/s for linear velocities, and -1.02 to 3.81 degree/s for angular velocities. CONCLUSION: Our findings demonstrate that the distance and velocity measurements obtained by swallowing kinematic analysis are highly valid in a wide range of movement velocity.
Biomechanics ; Deglutition ; Epiglottis ; Mass Screening ; Reference Values ; Reproducibility of Results

Background: The efficacy and safety of denosumab have been established in a phase 3, randomized, placebo-controlled trial in Korean postmenopausal women with osteoporosis. This postmarketing surveillance study was aimed to investigate the safety and effectiveness of denosumab in Korean real-world clinical practice. Methods: Patients with osteoporosis who had received denosumab per the Korean approved indications in the postmarketing setting between September 2014 and September 2019 were enrolled. The primary endpoint was the incidence of adverse events (AEs) and adverse drug reactions (ADRs). The secondary endpoint was the percent change from baseline in bone mineral density (BMD) of the lumbar spine, total hip, and femoral neck. Results: Of the 3,221 patients enrolled, 3,185 were included in the safety analysis set; 2,973 (93.3%) were female, and the mean± standard deviation (SD) age was 68.9±9.9 years. The mean±SD study period was 350.0±71.4 days. AEs, fatal AEs, and ADRs occurred in 19.3%, 0.8%, and 1.6%, respectively. The most frequent AEs, occurring in >0.5% of patients, were dizziness (0.7%), arthralgia (0.7%), back pain (0.6%), and myalgia (0.6%). Hypocalcemia occurred in 0.3% of patients. There were no cases of osteonecrosis of the jaw and atypical femoral fracture. Mean±SD percent change from baseline in BMD of the lumbar spine, total hip, and femoral neck was 7.3%±23.6%, 3.6%±31.4%, and 3.2%±10.7%, respectively. Conclusion The safety and effectiveness of denosumab in Korean patients with osteoporosis in this study were comparable with those in the Korean randomized controlled trial, with no new safety findings.

BACKGROUND/AIMS: The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. METHODS: DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD. RESULTS: Eighty-one IBD-associated variants and 35 variants in PID genes were revealed by WES. The most frequently occurring variants were carried by nine (41%) and four (18.2%) CD probands and were ATG16L2 (rs11235604) and IL17REL (rs142430606), respectively. Twenty-four IBD-associated variants and 10 PID variants were predicted to be deleterious and were identified in the heterozygous state. However, their functions were unknown with the exception of a novel p.Q111X variant in XIAP (X chromosome) of a male proband. CONCLUSIONS: The presence of many rare variants of unknown significance limits the clinical applicability of WES for individual CD patients. However, WES in children may be beneficial for distinguishing CD secondary to PID.
Asian Continental Ancestry Group/genetics ; Carrier Proteins/genetics ; Child ; Child, Preschool ; Crohn Disease/*genetics ; *Exome ; Female ; Genetic Predisposition to Disease ; *Genetic Variation ; Humans ; Immunologic Deficiency Syndromes/genetics ; Infant ; Male ; Phenotype ; Receptors, Interleukin-17/genetics ; Republic of Korea ; Sequence Analysis, DNA/*methods ; X-Linked Inhibitor of Apoptosis Protein/genetics

Objective: Rheumatoid arthritis (RA) is a chronic, progressive, autoimmune disorder that impairs patients’ overall health-related quality of life (HRQOL). In this study, we evaluated the effect of adalimumab in Korean patients with active RA on HRQOL. Methods: Patients included in the study had moderate to severe active RA that did not respond to conventional drugs with a Disease Activity Score of 28 joints ＞3.2 and were biologics-naïve. All patients received adalimumab 40 mg subcutaneously every other week and were followed for 24 weeks. The primary endpoint was the change in baseline Health Assessment Questionnaire Disability Index (HAQ-DI) score at week 24. Secondary endpoints were changes in the EuroQol 5-dimension 3-Level (EQ-5D-3L) baseline score and Short Form 36-Item Health Survey (SF-36) domain scores at weeks 12 and 24 and change in baseline HAQ-DI score at week 12. Results: In total, 91 Korean patients were included. Ninety-three percent of patients were in high disease activity with a baseline mean DAS28 value of 6.1 within all patients. The mean change from baseline in HAQ-DI scores were −0.46 at week 12 and∼0.67 at week 24 (p＜0.0001). Additionally, EQ-5D-3L score at weeks 12 and 24 had significantly improved (p＜0.0001) compared to baseline. SF-36 at weeks 12 and 24 had significantly improved (p＜0.0001, p=0.0001) compared to baseline. Conclusion Treatment with adalimumab resulted in significant improvement in HAQ-DI, EQ-5D-3L, and SF-36 scores at 12 and 24 weeks in Korean RA patient.

BACKGROUND: Severe graft dysfunction has been occasionally encountered following adult living donor liver transplantation (LDLT). This study intended to assess the effectiveness of plasmapheresis (PP) as a liver supportive measure in LDLT recipients showing severe graft dysfunction. METHODS: During 1 year of 2007, 276 adult LDLTs were performed in our institution. Of them 27 underwent PP therapy as a liver support. RESULTS: Seventeen underwent PP during the first month following LDLT and another 10 underwent PP after that period. The underlying causes of such liver support were acute and chronic rejections, ischemic damage, viral hepatitis recurrence and unknown causes. A total of 329 sessions of PP were performed for these 27 patients, indicating 12.2+/-9.9 times per patient for 28.1+/-32.2 days. Concurrent hemodiafiltration was done in 66.7%. Serum total bilirubin level was significantly reduced following PP therapy: 23.2+/-6.5 mg/dL before PP and 14.4+/-5.6 mg/dL at 1 week after completion of PP (P<0.001). Other biochemical parameters did not significantly affected by PP. Overall 1-year patient survival rate was 63.0%. Six-month graft survival rate after completion of PP was 82.6% in 17 patients undergoing PP during the first posttransplant month and 30% in 10 patients undergoing PP after 1 month (P= 0.013). CONCLUSIONS: The results of this study implicate that PP has a beneficial effect on the recovery of liver graft function, especially during the early posttransplant period. We suggest to perform active application of PP therapy for liver recipients showing severe graft dysfunction of total bilirubin greater than 15~20 mg/dL.
Adult ; Bilirubin ; Graft Survival ; Hemodiafiltration ; Hepatitis ; Humans ; Liver ; Liver Transplantation ; Living Donors ; Plasmapheresis ; Recurrence ; Rejection (Psychology) ; Survival Rate ; Transplants