Background: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome. HLRCC is characterized by the development of cutaneous leiomyomas, early-onset uterine leiomyomas, and HLRCC-associated renal cell cancer (RCC) and caused by germline fumarate hydratase (FH) deficiency. We investigated the genotypic and phenotypic characteristics of Korean patients with HLRCC. Methods: We performed direct sequencing analysis of FH in 13 patients with suspected HLRCC and their family members. A chromosomal microarray test was performed in female patients with negative sequencing results but highly suspected HLRCC. In addition, we analyzed the clinical characteristics and evaluated the genotype–phenotype correlations in Korean patients with HLRCC. Results: We identified six different pathogenic or likely pathogenic FH variants in six of the 13 patients (46.2%). The variants included two nonsense variants, two splicing variants, one frameshift variant, and one missense variant. Of the six variants, two (33.3%) were novel (c.132+1G > C, and c.243dup). RCC and early-onset uterine leiomyoma were frequently observed in families with HLRCC, while cutaneous leiomyoma was less common. No significant genotype–phenotype correlation was observed. Conclusions We describe the genotypic and phenotypic spectrum in a small series of Korean patients with HLRCC. Our data reveal the unique characteristics of Korean patients with HLRCC and suggest a need for establishing an optimal diagnostic approach for them.

Background/Aims: Chest pain in patients with obstructive coronary artery disease (OCAD) is affected by several social factors. The gender-based differences in chest pain among Koreans have yet to be investigated. Methods: The study consecutively enrolled 1,549 patients (male/female, 514/1,035; 61 ± 11 years old) with suspected angina. The predictive factors for OCAD based on gender were evaluated. Results: Men experienced more squeezing type pain on the left side of chest, while women demonstrated more dull quality pain in the retrosternal and epigastric area. After adjustment for risk factors, pain in the retrosternal area (odds ratio [OR], 1.491; 95% confidence interval [CI], 1.178 to 1.887) and aggravation by exercise (OR, 2.235; 95% CI, 1.745 to 2.861) were positively associated with OCAD. In men, shorter duration (OR, 1.581; 95% CI, 1.086 to 2.303) and dyspnea (OR, 1.610; 95% CI, 1.040 to 2.490) increased the probability for OCAD, while left-sided chest pain suggested a low probability for OCAD (OR, 0.590; 95% CI, 0.388 to 0.897). In women, aggravation by emotional stress (OR, 0.348; 95% CI, 0.162 to 0.746) and dizziness (OR, 0.457; 95% CI, 0.246 to 0.849) decreased the probability for OCAD. Conclusions This is the first study to focus on gender differences in chest pain among Koreans with angina. Symptoms with high probability for OCAD were different between sexes. Our findings suggest that patient’s medical history in pretest assessment for OCAD should be individualized considering gender.

PURPOSE: Our objective was to evaluate the use of a holmium laser for transurethral deroofing of a prostatic abscess in patients with severe and multiloculated prostatic abscesses. MATERIALS AND METHODS: From January 2011 to April 2014, eight patients who were diagnosed with prostatic abscesses and who underwent transurethral holmium laser deroofing at Pusan National University Hospital were retrospectively reviewed. RESULTS: Multiloculated or multifocal abscess cavities were found on the preoperative computed tomography (CT) scan in all eight patients. All patients who underwent transurethral holmium laser deroofing of a prostatic abscess had successful outcomes, without the need for secondary surgery. Of the eight patients, seven underwent holmium laser enucleation of the prostate (HoLEP) for the removal of residual adenoma. Markedly reduced multiloculated abscess cavities were found in the follow-up CT in all patients. No prostatic abscess recurrence was found. Transient stress urinary incontinence was observed in three patients. The stress urinary incontinence subsided within 3 weeks in two patients and improved with conservative management within 2 months in the remaining patient. CONCLUSIONS: Transurethral holmium laser deroofing of prostatic abscesses ensures successful drainage of the entire abscess cavity. Because we resolved the predisposing conditions of prostatic abscess, such as bladder outlet obstruction and prostatic calcification, by simultaneously conducting HoLEP, there was no recurrence of the prostatic abscesses after surgery. We recommend our method in patients requiring transurethral drainage.
Abscess/etiology/radiography/*surgery ; Aged ; Aged, 80 and over ; Calcinosis/complications/surgery ; Drainage/methods ; Holmium ; Humans ; Lasers, Solid-State/*therapeutic use ; Male ; Middle Aged ; Prostatic Diseases/etiology/radiography/*surgery ; Retrospective Studies ; Tomography, X-Ray Computed ; Transurethral Resection of Prostate/*methods ; Treatment Outcome ; Urinary Bladder Neck Obstruction/complications/surgery

Stress-induced cardiomyopathy is a recently described acute and transient cardiomyopathy with typical left ventricular apical ballooning mimicking the clinical scenario of an acute myocardial infarction. Cesarean delivery causes intense emotional and physical stresses, which may precipitate stress-induced cardiomyopathy. We report a case presenting stress-induced cardiomyopathy occurring during ICU care in the early postpartum period following cesarean delivery.
Cardiomyopathies ; Myocardial Infarction ; Postpartum Period ; Pregnancy

OBJECTIVES: Organizations have recently introduced Employee Assistance Programs (EAPs) to promote work performance by helping employees to solve their current problems and reduce stress levels. This cross-sectional, retrospective study was conducted to measure features of work performance among EAP users in Korea. METHODS: Measurements were taken by employee surveys and employee records. Lost productivity time, job/organizational involvement, and job satisfaction were measured among 332 EAP users in ten organizations in Korea, which had introduced EAPs as of 2009. EAP users responded to measurements after one to three months after enrollment in EAP counseling service. A convenience sample of 297 workers, who had not used an EAP counseling service during the study period, was used as a comparison group. RESULTS: Compared with non-users, the EAP users showed more presenteeism (53.22 vs. 47.63 hours per four weeks, p=0.025) and more total lost productivity time (p=0.020). Job satisfaction was correlated with presenteeism. CONCLUSION: EAP users showed decreased productivity. It would appear that EAP counseling is a useful program for those who are present at workplace but suffering from decreased performance due to personal stress. This study indicates the need for a prospective outcome study to assess the economic and clinical value of EAPs.
Absenteeism ; Counseling ; Efficiency ; Employment ; Humans ; Job Satisfaction ; Korea ; Outcome Assessment (Health Care) ; Retrospective Studies ; Stress, Psychological

BACKGROUND: New onset diabetes is a common complication after kidney transplantation. However, the clinical course of post-transplant diabetes mellitus (PTDM) remains unclear. The aim of the present study is to analyze the natural courses and risk factors of PTDM according to the time of onset. METHODS: A total of 216 consecutive kidney transplant recipients were enrolled and patient medical records were investigated retrospectively. PTDM was defined as glucose > or =126mg without previous diabetic history. Patients were classified according to the onset (12 months): early PTDM (E-PTDM) and late PTDM (L-PTDM). RESULTS: PTDM was observed in 34 (17.4%) patients. The number of E-PTDM and L-PTDM patients was 17 and 17. Compared with normoglycemic patients, the PTDM group was older and showed higher pre-transplant HbA1c level. The use of tacrolimus was associated with the development of E-PTDM (OR=4.87, 1.71~13.8 in 95% CI) but not L-PTDM (OR=0.34, 0.04~2.70 in 95% CI) CONCLUSIONS: The development of E-PTDM and L-PTDM may have different risk factors. It will be important to choose different therapeutic strategy according to the onset of PTDM.
Diabetes Mellitus ; Glucose ; Humans ; Kidney ; Kidney Transplantation ; Medical Records ; Retrospective Studies ; Risk Factors ; Tacrolimus ; Transplants

PURPOSE: Endothelial dysfunction is an event in the atherosclerotic process usually considered reversible at its early stage. Early detection, therefor, may improve the prognosis in the cardiovascular disease. The aim of this study was to investigate the vascular function in hemodialysis (HD) patients and to explore its relation to other various parameters with a specific emphasis on systemic inflammatory reaction (SIR), nutritional status and the presence of ischemic heart disease (IHD). METHODS: Flow-mediated endothelium-dependent vasodilatation (FMD) was measured, using Doppler sonogram, in 37 stable HD patients, 11 healthy people and 24 hypertensive controls. Nitroglycerine- induced endothelium-independent vasodilatation (EIV) and peak reaction time (PT) of each FMD and EIV were also measured. RESULTS: FMD in HD patients was decreased compared to healthy group whereas it was comparable in HD patients and hypertensive control. EIV in HD patients was significantly decreased compared to healthy and hypertensive controls. PT of each FMD and EIV was significantly delayed in HD patients. Each FMD and EIV showed a negative correlation with serum hsCRP level, but no significant correlations of FMD with other parameters were noted. Both FMD and EIV were further decreased in HD patients with IHD than non-IHD group. CONCLUSION: Our study confirmed a characteristic pattern of vascular dysfunction in HD patients: the impaired endothelial and smooth muscle function with a delayed reaction time. Importantly, SIR was one of the important factors determining vascular dysfunction in HD patients. Further studies will be necessary to define the causative role of SIR on endothelial dysfunction and the effect of inflammation- modulating therapy.
C-Reactive Protein ; Cardiovascular Diseases ; Humans ; Inflammation ; Muscle, Smooth ; Myocardial Ischemia ; Nutritional Status ; Prognosis ; Reaction Time ; Renal Dialysis ; Vasodilation

BACKGROUND: Anemia is known to be one of the important risk factors in the development and the aggravation of cardiovascular diseases. This study was undertaken to evaluate the effect of anemia correction on blood NT-pro BNP level and echocardiographic parameters in ESRD patients on hemodialysis. METHODS: Recombinant human erythropoietin (rHuEPO) was administered in 20 hemodialysis patients (median age 51.5, M:F=2.3:1) with a target hemoglobin>12.0 g/dL for 3 months. All patients were subjected to a serial follow-up of hemoglobin, hematocrit, and NT-pro BNP. Echocardiographic examination was also performed before and after 3 months of therapy. RESULTS: Hemoglobin was increased at 3 months [12.3 g/dL (11.8-13.6)] compared with baseline [9.8 g/dL (9.1-10.4)] (p<0.01), and NT-pro BNP was significantly decreased at 3 months [3415 pg/mL (2717- 8160)] compared with baseline [6371 pg/mL (2338- 18269)] (p<0.05). Echocardiographic examination revealed no significant changes in left ventricular ejection fraction and left ventricular mass index. In Doppler imaging, however, there was significant decrease in E velocity [62.5 cm/sec (52.8-83.5) vs. 57.0 cm/sec (45.0-60.0), p<0.05], thereby decrement in E/E' [15.6 (13.4-25.7) vs. 14.3 (11.5-22.2), p<0.05]. CONCLUSION: Partial correction of anemia with rHuEPO in ESRD patients on hemodialysis results in the reduction of blood NT-pro BNP level and the decrease of E velocity and E/E'.
Humans ; Risk Factors

BACKGROUND: Anemia is known to be one of the important risk factors in the development and the aggravation of cardiovascular diseases. This study was undertaken to evaluate the effect of anemia correction on blood NT-pro BNP level and echocardiographic parameters in ESRD patients on hemodialysis. METHODS: Recombinant human erythropoietin (rHuEPO) was administered in 20 hemodialysis patients (median age 51.5, M:F=2.3:1) with a target hemoglobin>12.0 g/dL for 3 months. All patients were subjected to a serial follow-up of hemoglobin, hematocrit, and NT-pro BNP. Echocardiographic examination was also performed before and after 3 months of therapy. RESULTS: Hemoglobin was increased at 3 months [12.3 g/dL (11.8-13.6)] compared with baseline [9.8 g/dL (9.1-10.4)] (p<0.01), and NT-pro BNP was significantly decreased at 3 months [3415 pg/mL (2717- 8160)] compared with baseline [6371 pg/mL (2338- 18269)] (p<0.05). Echocardiographic examination revealed no significant changes in left ventricular ejection fraction and left ventricular mass index. In Doppler imaging, however, there was significant decrease in E velocity [62.5 cm/sec (52.8-83.5) vs. 57.0 cm/sec (45.0-60.0), p<0.05], thereby decrement in E/E' [15.6 (13.4-25.7) vs. 14.3 (11.5-22.2), p<0.05]. CONCLUSION: Partial correction of anemia with rHuEPO in ESRD patients on hemodialysis results in the reduction of blood NT-pro BNP level and the decrease of E velocity and E/E'.
Humans ; Risk Factors

Significant surgical complications occur in about half of patients after simultaneous pancreas kidney transplantation (SPK) with bladder drainage. Urologic complications are very common in bladder-drained pancreas transplants. Urinary obstruction occurs in either the early or the late period following transplantation. Predictors of urological complications after transplantation have not been well established. Early obstruction is usually diagnosed by an increment of serum creatinine or through imaging studies, such as ultrasound and antegrade pyelogram. Surgical management is inevitable when conservative managements fails. If the length of the donor ureter is sufficient, it is possible to redo the ureteroneocystostomy. However, if this is not the case or the stricture is at a high level, a native ureterotransplant ureterostomy may be the procedure of choice. SPK was performed on a 36 year old male patient with insulin dependent diabetes mellitus and diabetic nephropathy. The pancreatic exocrine secretion was drained by duodenocystostomy. The patient developed an obstruction in upper ureter on the postoperative 16th day. On the postoperative 32nd day, a native ureterotransplant ureterostomy with a double J stent was performed. The postoperative course was uneventful. The double J stent was removed on postoperative 112nd day by cystoscope. A subsequent follow up showed excellent pancreatic and renal function.
Adult ; Constriction, Pathologic ; Creatinine ; Cystoscopes ; Diabetes Mellitus ; Diabetic Nephropathies ; Drainage ; Follow-Up Studies ; Humans ; Insulin ; Kidney Transplantation* ; Kidney* ; Male ; Pancreas* ; Stents ; Tissue Donors ; Ultrasonography ; Ureter* ; Ureteral Obstruction* ; Ureterostomy* ; Urinary Bladder