PURPOSE: This study was conducted to identify the factors contributing to sleep disorders in patients on hemodialysis. Methods: A descriptive correlational study design was used. The participants were 135 patients on hemodialysis in hemodialysis clinics. Data were collected from March to May 2007 using structured questionnaires and hematologic sample. Stepwise multiple regression was used to identify factors influencing sleep disorders among the demographic-clinical factors, depression and fatigue. RESULTS: About 69% of the patients had a sleep disorders. There were significant differences in sleep disorders according to marital status, caregiver, religion, economic level, insurance, erythropoietin, somnifacient, and antihypertensive agents. But there were no differences according to age, gender, dialysis period, or antidepressants. Their sleep disorders had significant correlations with depression, and fatigue, and a significant negative correlation with Protein, Albumin, Phosphate and BUN. But there were no correlations with hematocrit, hemoglobin, creatinine, sodium, potassium, or calcium. Depression and fatigue were factors influencing sleep disorders. They accounted for 43.8% of the variance in sleep disorders in these patients. CONCLUSION: Findings provide an understanding of sleep disorders and the factors that are an influence in patients on hemodialysis. To promote sleep in these patients, nursing interventions to manage depression and fatigue are needed.
Antidepressive Agents ; Antihypertensive Agents ; Calcium ; Caregivers ; Creatinine ; Depression ; Dialysis ; Erythropoietin ; Fatigue ; Hematocrit ; Hemoglobins ; Humans ; Insurance ; Marital Status ; Potassium ; Surveys and Questionnaires ; Renal Dialysis ; Sleep Wake Disorders ; Sodium

BACKGROUND: JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. Mutation quantification is useful for classifying patients with MPN into subgroups and for prognostic prediction. Droplet digital PCR (ddPCR) can provide accurate and reproducible quantitative analysis of DNA. This study was designed to verify the correlation of ddPCR with pyrosequencing results in the diagnosis of MPN and to investigate clinical implications of the mutational burden. METHODS: Peripheral blood or bone marrow samples were obtained from 56 patients newly diagnosed with MPN or previously diagnosed with MPN but not yet indicated for JAK2 inhibitor treatment between 2012 and 2016. The JAK2 V617F mutation was detected by pyrosequencing as a diagnostic work-up. The same samples were used for ddPCR to determine the correlation between assays and establish a detection sensitivity cut-off. Clinical and hematologic aspects were reviewed. RESULTS: Forty-two (75%) and 46 (82.1%) patients were positive for JAK2 V617F by pyrosequencing and ddPCR, respectively. The mean mutated allele frequency at diagnosis was 37.5±30.1% and was 40.7±31.2% with ddPCR, representing a strong correlation (r=0.9712, P < 0.001). Follow-up samples were available for 12 patients, including eight that were JAK2 V617F-positive. Of these, mutational burden reduction after treatment was observed in six patients (75%), consistent with trends of hematologic improvement. CONCLUSIONS: Quantitative analysis of the JAK2 V617F mutation using ddPCR was highly correlated with pyrosequencing data and may reflect the clinical response to treatment.
Bone Marrow ; Diagnosis ; DNA ; Follow-Up Studies ; Gene Frequency ; Humans ; Polymerase Chain Reaction*

Arteriovenous malformation (AVM) is a lesion involving a high-flow vascular malformation, which is one of the causes of massive gastrointestinal bleeding. In the pediatric population, AVM is quite rare in the gastrointestinal tract, and the most common primary site is the colon. A small bowel is a rare primary site of AVM, and only 1 case has been reported in Korea. Here, we report on a case of AVM found in the distal ileum of a 14-year-old girl who complained about recurrent lower abdominal pain only without a gastrointestinal hemorrhage. In the previous research literature, a small bowel AVM can be diagnosed through detecting the existence of an enhancing nidus of the intestinal wall at the arterial phase, accompanied by an early draining vein as it appeared on a dynamic contrast-enhanced abdominal computed tomography. In our case, the pathologically confirmed AVM of the distal ileum showed a dot-like enhancement within the thick low-attenuating submucosal layer of the terminal ileum.

An osteoma of the tongue is a rare benign tumor, typically located in the posterior one-third of the tongue. Several etiological hypotheses have been proposed in previous literature reviews. Herein, we report the case of a lingual osteoma in a 39-year-old woman, who complained of a lump in the throat. The lesion presented as a homogeneously hyperdense submucosal mass without any enhancement in the base of the tongue on CT, consistent with previous image findings of lingual osteoma. After surgical resection, the mass was pathologically proven to be a lingual osteoma. The patient no longer complained of the sensation of a lump. Typical CT findings of a lingual osteoma—a well-circumscribed hyperdense submucosal mass seen around the foramen cecum—could be helpful in the diagnosis of lingual osteoma and the prevention of further unnecessary work-up.

BACKGROUND AND OBJECTIVES: Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants. METHODS: We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples. RESULTS: BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵). CONCLUSIONS KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.

BACKGROUND AND OBJECTIVES: Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants. METHODS: We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples. RESULTS: BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵). CONCLUSIONS: KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.
Biomarkers ; Diagnosis ; Genetic Heterogeneity ; Genome-Wide Association Study ; Humans ; Male ; Mucocutaneous Lymph Node Syndrome ; Polymorphism, Single Nucleotide ; Population Characteristics ; Protein-Tyrosine Kinases