A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice

Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for early detection and meaningful markers. However, because the diagnosis and treatment of Fabry disease can vary according to the expertise of physicians, we evaluated the opinions of Korean specialists. Methods: A questionnaire regarding the management of Fabry nephropathy was emailed to healthcare providers with the experience or ability to treat individuals with Fabry nephropathy. Results: Of the 70 experts who responded to the survey, 43 were nephrologists, and 64.3% of the respondents reported having treated patients with Fabry disease. Pediatricians are treating primarily patients with classic types of the disease, while nephrologists and cardiologists are treating more patients with variant types. Only 40.7% of non-nephrologists agreed that a kidney biopsy was required at the time of diagnosis, compared with 81.4% of nephrologists. Thirty-eight of 70 respondents (54.3%) reported measuring globotriaosylsphingosine (lyso-Gb3) as a biomarker. The most common period to measure lyso-Gb3 was at the time of diagnosis, followed by after ERT, before ERT, and at screening. For the stage at which ERT should begin, microalbuminuria and proteinuria were chosen by 51.8% and 28.6% of respondents, respectively. Conclusion: Nephrologists are more likely to treat variant Fabry disease rather than classic cases, and they agree that ERT should be initiated early in Fabry nephropathy, using lyso-Gb3 as a biomarker.

Dynamic Range and Neural Response Threshold in Cochlear Implant Mapping Can Be Useful in Predicting Prognosis Related to Postoperative Speech Perception

Background and Objectives@#To analyze mapping changes in dynamic range (DR) and neural response threshold (NRT) as prognostic factors for cochlear implant (CI). To analyze whether postoperative speech perception performance could be predicted using DR change and initial NRT. @*Subjects and Methods@#The speech comprehension data of 33 patients with CI were retrospectively analyzed after 1, 3, 6, and 12 months of device use. All subjects were adult, postlingually hearing-impaired, and Cochlear Nucleus CI users. Speech perception performance was evaluated using aided pure tone audiometry, consonant, vowel, one-word, two-word, and sentence tests. @*Results@#The averages of initial NRT and DR changes were 197.8±25.9 CU (104–236) and 22.2±18.4 CU (-15–79), respectively. The initial DR was 40.8±16.6 CU. The postoperative DR was 50.3±16.4 CU at 3 months, 58±12.3 CU at 6 months, and 62.9±10.4 CU at 12 months. A gradual increase of DR was observed during the first year of CI. Compared with the initial DR, significant increases in DR were observed at 3 (p<0.05), 6 (p<0.001), and 12 (p<0.001) months. Compared with initial speech performance outcomes, a significant gain in all performance outcomes was achieved at 12 months (p<0.001). @*Conclusions@#Patients with low NRT after CI surgery could initially set DR to a wider range and had better final speech perception outcomes. Conversely, patients with high NRT after CI surgery had to set up a gradual increase in DR while adjusting the T-C level, and the final speech perception outcomes were worse. DR and NRT, the main CI mapping variables, can help predict prognosis related to speech perception outcomes after CI surgery. In conclusion, the post-CI speech perception is better with a lower initial NRT, wider final DR, or younger age.

Adverse Events Associated with the Use of Leukocyte Reduction Filters and Blood Transfusion Sets: Experience of a Single Institute in Korea and Status of Adverse Event Reporting in Korea and the United States / 대한수혈학회지

Background@#Leukocyte reduction filters (LRF) and blood transfusion sets (BTS) are frequently used medical devices to prevent blood transfusion-related adverse reactions. This study attempted to analyze these medical devices related adverse events reported by an institution for 10 years and to understand the status of such reports in Korea and the United States (U.S.). @*Methods@#From January 2013 to October 2022, adverse events reported at Soonchunhyang university Bucheon hospital (SCHBC) were analyzed. From 2016 to 2022, adverse events registered in the Korean Medical Device Information Portal and the Total Product Life Cycle (TPLC) database of the U.S. were collected and evaluated using the International Medical Device Regulators Forum (IMDRF) code for medical device problems, clinical signs, and symptoms or conditions. @*Results@#A total of 12, 47, and 1,422 events were identified in SCHBC, Korea, and the U.S., respectively. The medical device problems reported in BTS included fluid leakage, breakage, disconnection, and no flow. In LRF, device or reagent problems, coagulation of device or device components, and filtration problems were reported. Most of the clinical signs and symptoms or conditions were not applicable (98.1%, 1,453/1,481), but hypotension and hemolysis were reported in LRF. @*Conclusion@#To improve the safety of transfusion-related medical devices such as LRF and BTS, proper attention needs to be paid to adverse events and all medical institutions should participate in the reporting of such events.The various adverse events and associated IMDRF codes included in this study would help enable reporting of adverse events and improve patient safety.

Diffuse Intracranial Hemorrhages, Acute Peripheral Neuropathy, and Acute Kidney Injury in a Newly Diagnosed Diabetes Patient with Severe Diabetic Ketoacidosis: A Case Report and Literature Review

Diabetic ketoacidosis (DKA) is a common complication associated with pediatric type 1 diabetes mellitus (DM). Although cerebral edema is the major cause of death in DKA, there is a possibility of the occurrence of other dangerous complications involving multiple systems, thereby contributing to mortality and morbidity. Herein, we report the case of a 13-year-old girl with new-onset type 1 DM and severe DKA. Her condition was further complicated by the occurrence of diffuse intracranial hemorrhages, acute kidney injury requiring hemodialysis, and peripheral neuropathy. Patients with severe acidosis require careful monitoring of kidney function and neurological complications, and these conditions should be treated appropriately.

Diffuse Intracranial Hemorrhages, Acute Peripheral Neuropathy, and Acute Kidney Injury in a Newly Diagnosed Diabetes Patient with Severe Diabetic Ketoacidosis: A Case Report and Literature Review

Diabetic ketoacidosis (DKA) is a common complication associated with pediatric type 1 diabetes mellitus (DM). Although cerebral edema is the major cause of death in DKA, there is a possibility of the occurrence of other dangerous complications involving multiple systems, thereby contributing to mortality and morbidity. Herein, we report the case of a 13-year-old girl with new-onset type 1 DM and severe DKA. Her condition was further complicated by the occurrence of diffuse intracranial hemorrhages, acute kidney injury requiring hemodialysis, and peripheral neuropathy. Patients with severe acidosis require careful monitoring of kidney function and neurological complications, and these conditions should be treated appropriately.

A Case of Masson’s Tumor in Lateral Neck / 대한이비인후과학회지

Masson’s tumor, also known as intravascular papillary endothelial hyperplasia (IPEH), is a rare, benign vascular tumor characterized by the proliferation of endothelial cells with papillary formations. Differential diagnosis between IPEH and angiosarcoma is important because both have microscopic similarity. Herein, we report a rare case of IPEH on the right lateral neck of a 50-year-old female presenting with a neck mass, which was completely removed without complication.

Differences in Perspectives of Medical Device Adverse Events: Observational Results in Training Program Using Virtual Cases

BACKGROUND: Medical device adverse event reporting is an essential activity for mitigating device-related risks. Reporting of adverse events can be done by anyone like healthcare workers, patients, and others. However, for an individual to determine the reporting, he or she should recognize the current situation as an adverse event. The objective of this report is to share observed individual differences in the perception of a medical device adverse event, which may affect the judgment and the reporting of adverse events. METHODS: We trained twenty-three participants from twelve Asia-Pacific Economic Cooperation (APEC) member economies about international guidelines for medical device vigilance. We developed and used six virtual cases and six questions. We divided participants into six groups and compared their opinions. We also surveyed the country's opinion to investigate the beginning point of ‘patient use’. The phases of ‘patient use’ are divided into: 1) inspecting, 2) preparing, and 3) applying medical device. RESULTS: As for the question on the beginning point of ‘patient use,’ 28.6%, 35.7%, and 35.7% of participants provided answers regarding the first, second, and third phases, respectively. In training for applying international guidelines to virtual cases, only one of the six questions reached a consensus between the two groups in all six virtual cases. For the other five questions, different judgments were given in at least two groups. CONCLUSION: From training courses using virtual cases, we found that there was no consensus on ‘patient use’ point of view of medical devices. There was a significant difference in applying definitions of adverse events written in guidelines regarding the medical device associated incidents. Our results point out that international harmonization effort is needed not only to harmonize differences in regulations between countries but also to overcome diversity in perspectives existing at the site of medical device use.

Nutritional Status and Dietary Management According to Hemodialysis Duration

As the incidence of chronic diseases such as diabetes and hypertension increases, complications such as decreased renal function are also increasing in many patients. Nutritional management in hemodialysis patients is a very important factor for prognosis and quality of life. The purpose of this study was to investigate the differences in nutritional status and dietary management according to hemodialysis duration. A total of 145 patients were divided into 4 groups according to hemodialysis duration: less 1 year (D1), 1–5 years (D2), and above 5 years (D3). The rates of protein-energy wasting were 31.1% in D1 group, 49.5% in D2 group, and 47.6% in D3 group. However, there was no significant difference between the 3 groups. Nutrient intake analysis showed that protein, iron, and vitamin C were significantly lower in the D3 group than in the D1 group. Protein intake in all 3 groups was insufficient compared to the recommended dietary amount for dialysis patients. The most difficult aspect in dietary management was cooking with low sodium. In the D3 group, which had the longest duration of dialysis, the practice of diet therapy and self-perceived need for nutrition education was lowest. Observations of nutritional status are necessary to maintain the health status of dialysis patients. In addition, education plans should be prepared to mediate the nutrient intakes and identify the patient's difficulties and provide practical help.

Efficacy of low-dose spironolactone on top of angiotensin receptor blockade in patients with glomerulonephritis

BACKGROUND: Previous studies have shown that aldosterone antagonists have a proteinuria-lowering effect in patients with proteinuria and progressive proteinuric disease not adequately controlled by the use of angiotensin receptor blockers (ARBs). Aldosterone antagonists, in combination with ARBs, might improve proteinuria in patients with glomerulonephritis (GN). METHODS: In the present retrospective study, we evaluated the proteinuria-lowering effect and drug safety of low-dose spironolactone (12.5 mg/day) in 42 patients with GN being treated with an ARB. RESULTS: Proteinuria decreased from a mean total-protein-to-creatinine (TP/Cr) ratio of 592.3 ± 42.0 mg/g at baseline to 335.6 ± 43.3 mg/g after three months of treatment with spironolactone (P < 0.001). After the initial three months, the mean TP/Cr ratio increased progressively at six, nine, and 12 months; however, it was still less than the baseline value (P = 0.001, < 0.001, and < 0.001, respectively). Although serum Cr levels increased significantly at three and nine months compared with baseline (P = 0.036 and 0.026, respectively), there was no time effect of treatment (P = 0.071). Serum potassium levels tended to increase with time (P = 0.118), whereas systolic and diastolic blood pressures decreased with time (P = 0.122 and 0.044, respectively). CONCLUSION: Low-dose spironolactone in combination with an ARB reduced proteinuria in patients with GN, which could represent a novel treatment option in individuals whose proteinuria is not optimally controlled by the use of ARBs alone.

Serum uric acid and mortality risk among maintenance hemodialysis patients

No abstract available.

Serum uric acid and mortality risk among maintenance hemodialysis patients

No abstract available.

Clinical utility of far-infrared therapy for improvement of vascular access blood flow and pain control in hemodialysis patients

BACKGROUND: Maintenance of a well-functioning vascular access and minimal needling pain are important goals for achieving adequate dialysis and improving the quality of life in hemodialysis (HD) patients. Far-infrared (FIR) therapy may improve endothelial function and increase access blood flow (Qa) and patency in HD patients. The aim of this study was to evaluate effects of FIR therapy on Qa and patency, and needling pain in HD patients. METHODS: This prospective clinical trial enrolled 25 outpatients who maintained HD with arteriovenous fistula. The other 25 patients were matched as control with age, sex, and diabetes. FIR therapy was administered for 40 minutes during HD 3 times/wk and continued for 12 months. The Qa was measured by the ultrasound dilution method, whereas pain was measured by a numeric rating scale at baseline, then once per month. RESULTS: One patient was transferred to another facility, and 7 patients stopped FIR therapy because of an increased body temperature and discomfort. FIR therapy improved the needling pain score from 4 to 2 after 1 year. FIR therapy increased the Qa by 3 months and maintained this change until 1 year, whereas control patients showed the decrease in Qa. The 1-year unassisted patency with FIR therapy was not significantly different from control. CONCLUSION: FIR therapy improved needling pain. Although FIR therapy improved Qa, the unassisted patency was not different compared with the control. A larger and multicenter study is needed to evaluate the effect of FIR therapy.

Fabry disease previously diagnosed as Henoch-Schonlein purpura

No abstract available.

Ferritin as a predictor of decline in residual renal function in peritoneal dialysis patients

BACKGROUND/AIMS: Aims: Inflammation is an important factor in renal injury. Ferritin, an inflammatory marker, is considered an independent predictor of rapid renal progression in patients with chronic kidney disease. However, the relationship between ferritin and residual renal function (RRF) in patients undergoing peritoneal dialysis (PD) remains unclear. METHODS: We reviewed the medical records of patients who started PD between June 2001 and March 2012 at Soonchunhyang University Bucheon Hospital, Korea. A total of 123 patients were enrolled in the study. At 1 month after the initiation of PD, RRF was determined by a 24-hour urine collection and measured every 6 months thereafter. Clinical and biochemical data at the time of the initial 24-hour urine collection were considered as baseline. RESULTS: The RRF reduction rate was significantly greater in patients with high ferritin (ferritin > or = 250 ng/mL) compared with those with low ferritin (ferritin < 250 ng/mL; -1.71 +/- 1.36 mL/min/yr/1.73 m2 vs. -0.84 +/- 1.63 mL/min/yr/1.73 m2, respectively; p = 0.007). Pearson correlation analysis revealed a significant negative correlation between the baseline serum ferritin level and the RRF reduction rate (r = -0.219, p = 0.015). Using multiple linear regression analysis and adjusting for other risk factors, baseline serum ferritin was an independent factor for the RRF reduction rate (beta = -0.002, p = 0.002). CONCLUSIONS: In this study we showed that a higher ferritin level was significantly associated with a more rapid RRF decline in patients undergoing PD.

Reanalysis of membranoproliferative glomerulonephritis patients according to the new classification: a multicenter study

BACKGROUND: All types of membranoproliferative glomerulonephritis (MPGN) are progressive diseases with poor prognoses. Recently, a newly proposed classification of these diseases separated them into immune complex- and complement- mediated diseases. We investigated the frequency of C3 glomerulonephritis among previously diagnosed MPGN patients. METHODS: We conducted a retrospective study of patients diagnosed with MPGN at three tertiary care institutions between 2001 and 2010. We investigated the incidence of complement-mediated disease among patients diagnosed with MPGN. Progressive renal dysfunction was defined as a 50% reduction in the glomerular filtration rate or the need for renal replacement therapy. RESULTS: Among the 3,294 renal biopsy patients, 77 (2.3%) were diagnosed with MPGN; 31 cases were excluded, of which seven were diagnosed with systemic lupus nephritis, and the others were not followed for a minimum of 12 months after biopsy. Based on the new classification, complement-mediated MPGN was diagnosed in two patients (4.3%); only one patient developed progressive renal dysfunction. Among the immune complex-mediated MPGN patients, 17 patients developed progressive renal dysfunction. Serum albumin and creatinine levels at the time of MPGN diagnosis were risk factors of renal deterioration, after adjusting for low C3 levels and nephrotic syndrome. CONCLUSION: Complement-mediated glomerulonephritis was present in 4.3% of patients previously diagnosed with MPGN.

Clinical Experience with Buttonhole Needling in a Single Hemodialysis Center / 대한내과학회지

BACKGROUND/AIMS: The buttonhole technique, in which needle insertion during cannulation is always into the same site, confers advantages including ease of cannulation, ease of achieving hemostasis, and reduced pain compared with rope-ladder needling. We introduced the buttonhole technique in hemodialysis patients experiencing pain during needling. None of the disadvantages associated with the buttonhole technique, such as infection or access events, were observed, due to the short duration of the study. METHODS: Patients undergoing buttonhole needling were observed prospectively. Data were collected on the following parameters: infectious complications, hospitalizations and access events. We compared buttonhole and rope-ladder needling using baseline data. RESULTS: A total of 48 patients (34 males; mean age = 49.4 +/- 13.8 years) were enrolled. Seven patients were excluded: in three patients, the buttonhole technique failed to form a tract, three others underwent kidney transplantation, and one was lost to follow-up. The remaining 41 patients were followed for 15.7 +/- 4.7 months. Thirteen patients suffered infections, as follows: local infections (n = 5), pneumonia (n = 3), bacteremia (n = 2), cellulitis (n = 1), osteomyelitis (n = 1), and liver abscess (n = 1). There were no significant differences between the rope-ladder and buttonhole needling techniques in rates of infection, hospitalization or vascular access events. CONCLUSIONS: The infection rate and access event frequency associated with buttonhole needling did not differ in relation to that of rope-ladder needling.

Clinical Experience with Buttonhole Needling in a Single Hemodialysis Center / 대한내과학회지

BACKGROUND/AIMS: The buttonhole technique, in which needle insertion during cannulation is always into the same site, confers advantages including ease of cannulation, ease of achieving hemostasis, and reduced pain compared with rope-ladder needling. We introduced the buttonhole technique in hemodialysis patients experiencing pain during needling. None of the disadvantages associated with the buttonhole technique, such as infection or access events, were observed, due to the short duration of the study. METHODS: Patients undergoing buttonhole needling were observed prospectively. Data were collected on the following parameters: infectious complications, hospitalizations and access events. We compared buttonhole and rope-ladder needling using baseline data. RESULTS: A total of 48 patients (34 males; mean age = 49.4 +/- 13.8 years) were enrolled. Seven patients were excluded: in three patients, the buttonhole technique failed to form a tract, three others underwent kidney transplantation, and one was lost to follow-up. The remaining 41 patients were followed for 15.7 +/- 4.7 months. Thirteen patients suffered infections, as follows: local infections (n = 5), pneumonia (n = 3), bacteremia (n = 2), cellulitis (n = 1), osteomyelitis (n = 1), and liver abscess (n = 1). There were no significant differences between the rope-ladder and buttonhole needling techniques in rates of infection, hospitalization or vascular access events. CONCLUSIONS: The infection rate and access event frequency associated with buttonhole needling did not differ in relation to that of rope-ladder needling.

Features of atherosclerosis in hemodialysis patients

BACKGROUND: Cardiovascular disease is the main cause of mortality in dialysis patients. Carotid intima-media thickness (CIMT) is used as a surrogate marker of early atherosclerosis. Atherosclerosis can cause vascular access failure.The purpose of this study was to define the clinical features of atherosclerosis in hemodialysis patients based on CIMT and to define the relationship between CIMT and access failure. METHODS: In this cross-sectional study, the CIMT of 60 patients on hemodialysis was examined using B-mode Doppler ultrasonography between May 2012 and November 2012. Carotid atherosclerosis was defined as a CIMT> or =0.9 mm or the incidence of atherosclerotic plaques. RESULTS: The patients' mean age was 54.5+/-10.6 years, and 60% of the patients were male. The CIMT was 0.81+/-0.47 mm (range, 0.35-2.50 mm).The group with atherosclerosis was characterized by older age compared with those without atherosclerosis. Patients with atherosclerosis showed much shorter durations of access patency than their counterparts in the nonatherosclerosis group (hazard ratio, 2.822; 95% confidence interval, 1.113-7.156; P=0.029). Moreover, being overweight was associated with a 2.47-fold (95% confidence interval,1.101-5.548) increased primary access failure. CONCLUSION: This study shows that atherosclerosis is associated with older age. Patients who are overweight and have atherosclerosis may have shortened access patency.

Clinical Aspects of Peritonitis in Peritoneal Dialysis Patient: A Single Center Experience

OBJECTIVE: Peritonitis is one of major complication of peritoneal dialysis. It is the most important reason for removal of peritoneal catheter, death, or converting to hemodialysis. There is a debate that peritonitis decreases residual renal function. Thus, the authors carried out a study to grasp the prognosis of peritonitis which affects residual renal function (RRF) and assessed the risk factors of its clinical course. METHODS: Among 245 patients who had been on peritoneal dialysis in Soonchunhyang University Bucheon Hospital from April 2001 to March 2012, the author selected 91 patients who had kept on peritoneal dialysis for more than 3 months and experienced more than one episode of peritonitis. The medical records and laboratory findings were reviewed. RESULTS: During the average period of 36.3+/-22.8 months of peritoneal dialysis, total of 182 episodes of peritonitis developed in 91 study subjects. Among them, the 15 cases (8.2%) did not improve despite of intraperitoneal antibiotics and peritoneal catheter was subsequently removed. Eight patients were dead because of peritonitis related complications. The lactic dehydrogenase (LDH) level of peritoneal fluid at the third day of treatment had a significant correlation with peritonitis treatment failure (odds ratio [OR], 1.079; P=0.009) and death (OR, 1.071; P=0.049), respectively. The RRF after peritonitis became significantly low (P=0.011) compared to before peritonitis. But the slopes of declining rate of RRF were not different between before and after peritonitis (P=0.932). CONCLUSION: The LDH level of peritoneal fluid at the third day of treatment was correlated with treatment failure or death. The declining rate of RRF was not affected after peritonitis.

Ischemic monomelic neuropathy: a rare complication after vascular access formation

No abstract available.