Farber's disease (disseminated lipogranulomatosis): the first case reported in Japan.

We report the first case in Japan, i.e., the first case among oriental subject of Farber's disease. This is a rare disorder of lipid metabolism in infancy subsequent to a genetically-determined defect in ceramide degradation. Main features are characterized clinically by hoarseness, joint swelling, subcutaneous nodules and retarded psychomotor development. Lipid analysis and pathological investigation on the material obtained from a subcutaneous nodule confirmed clearly the presence of ceramide and intracytoplasmic inclusion bodies characteristic for Farber's disease. In this case, we experienced also corneal opacity and striking abnormalities in electroencephalogram, which have apparently not been noticed in the 17 cases hitherto reported.</p

Correlation of hippocampal atrophy with hyperhomocysteinemia in hemodialysis patients: An exploratory pilot study.

BACKGROUND:Cognitive impairment is one of the important critical issues in hemodialysis (HD) patients. However, the associating factors of brain atrophy in HD patients have not been fully elucidated. PURPOSE AND METHODS:Brain magnetic resonance imaging (MRI) was performed in 34 of total 72 HD outpatients in our dialysis center. These MRI images were analyzed by an application software; Voxel-based Specific Regional Analysis System for Alzheimer's Disease (VSRAD). VSRAD quantitatively calculates the extent of brain atrophy (percent of volume reduction) comparing with a MRI imaging database of 80 age-matched healthy controls. The extent of both hippocampal and whole-brain atrophy was evaluated with possible contributing factors. RESULTS:In all patients, the mean extent of hippocampal atrophy was 27.3%, and the mean extent of whole-brain atrophy was 11.2%. The extent of hippocampal atrophy was significantly correlated with low body mass index (BMI), total serum homocysteine (tHcy) levels, and brachial-ankle pulse wave velocity (baPWV). The extent of whole-brain atrophy showed significant correlations with age, hypoalbuminemia, and baPWV. Based on the multiple regression analysis, tHcy was an independent determinant of hippocampal atrophy (β = 0.460, R2 = 0.189, P<0.01); while age was an independent determinant of whole-brain atrophy (β = 0.594, R2 = 0.333, P<0.01). CONCLUSIONS:In this exploratory pilot study, hippocampal atrophy was significantly correlated with hyperhomocysteinemia in HD patients

High prevalence of peripheral arterial disease (PAD) in incident hemodialysis patients: screening by ankle-brachial index (ABI) and skin perfusion pressure (SPP) measurement

Abstract Background Peripheral arterial disease (PAD) has much impact on mortality in hemodialysis (HD) patients. Ankle-brachial index (ABI) and skin perfusion pressure (SPP) are useful tools to detect PAD in HD patients. However, the prevalence of PAD in incident HD patients by ABI and SPP measurement has not been fully elucidated. Methods We examined both ABI and SPP in 185 consecutive patients with end-stage renal failure at the initiation of HD therapy. PAD was diagnosed by previous history, clinical symptoms, histories of endovascular peripheral intervention, bypass surgery, amputation due to PAD, and values of ABI and SPP. Cut-off value of ABI and SPP for diagnosing PAD was set at < 0.9 and < 50 mmHg, respectively. Results The percentage of limbs with ABI < 0.9 and SPP value < 50 mmHg among total limbs were 10.8 and 21.1%, respectively. Among 185 patients in incident HD patients, 45 patients were diagnosed as having PAD. ABI and SPP positively correlated (r = 0.311, p = 0.006). However, discrepancy between ABI and SPP values (normal or high ABI with low SPP, or low ABI with normal SPP) was also found. Among 45 incident HD patients with PAD, only 14 patients (31.1%) showed low ABI and low SPP values. Conclusion Measurement of both ABI and SPP might be necessary to improve the diagnostic accuracy of PAD. Prevalence of PAD in incident HD patients was proved to be very high

Weekly Averaged Blood Pressure Is More Important than a Single-Point Blood Pressure Measurement in the Risk Stratification of Dialysis Patients

Background and objectives: With regard to monitoring blood pressure in hemodialysis patients, it is important to define clearly the time point at which the blood pressure is measured, because the blood pressure of hemodialysis patients varies with each hemodialysis session as a result of loss of excess fluid

Impact of the 3% Oxygen Desaturation Index via Overnight Pulse Oximetry on Cardiovascular Events and Death in Patients Undergoing Hemodialysis: A Retrospective Cohort Study

It is unclear whether the severity of sleep-disordered breathing (SDB) affects the risk of cardiovascular events and mortality in patients undergoing hemodialysis (HD). We determined the severity of SDB with the 3% oxygen desaturation index (ODI) via overnight pulse oximetry. This study was a retrospective cohort, observational study of 134 patients on maintenance HD at a single center. They were divided into four groups according to SDB severity (normal, mild, moderate, and severe), and were followed. The baseline characteristics of all patients were as follows: the median age was 67 (interquartile range, 59&ndash;75) years, 64.2% were men, 37.3% were diabetic, and the median duration of HD was 69 (29&ndash;132) months. During follow-up, major adverse cardiovascular events (MACEs) occurred in 71 patients and deaths in 60 (including 32 cardiovascular deaths). Severe SDB was an independent risk factor for MACEs (hazard ratio [HR] = 4.66, 95% confidence interval [CI] = 1.87&ndash;11.61, p = 0.001) and all-cause death (HR = 5.74, 95% CI = 1.92&ndash;16.70, p = 0.001). Severe SDB had a statistically significant impact on the risk of MACEs and mortality in patients undergoing HD. The severity of the 3% ODI via overnight pulse oximetry may be a useful marker as a risk factor for cardiovascular outcomes and mortality in these patients

Coronary Artery Calcification, ADMA, and Insulin Resistance in CKD Patients

Background and objectives: It is known that coronary artery calcification (CAC) develops in chronic kidney disease (CKD) before initiation of renal replacement therapy, and factors associated with CKD mineral and bone disorders (CKD-MBDs) are involved. However, little information is available about any association between plasma levels of asymmetric dimethylarginine (ADMA), insulin resistance, and CAC

Aliskiren, a Direct Renin Inhibitor, Improves Vascular Endothelial Function in Patients on Hemodialysis Independent of Antihypertensive Effect ~ a Pilot Study~

Aims: Aliskiren inhibits the first step in the renin-angiotensin system (RAS) and recently has been shown to modulate vascular diseases via RAS-dependent and independent pathways. This study aimed to determine the effect of aliskiren-associated direct renin inhibition on endothelial function in patients on hemodialysis via flow-mediated dilatation (FMD) and platelet-derived microparticles (PDMP), as biomarkers of atherosclerosis. Methods: A 12-week prospective study was performed with 24 patients on hemodialysis who were administered 150 mg orally aliskiren once daily for 12 weeks. Results: No significant difference were observed between pre-dialysis, home, and weekly averaged blood pressure at baseline and at 12 weeks (151.5 ± 8.5/80.9 ± 12.9 mmHg vs 150.3 ± 15.3/78.9 ± 21.2 mmHg, 151.4 ± 9.7/82.3 ± 14.7 mmHg vs 151.2 ± 17.7/81.4 ± 10.6 mmHg, and 156.0 ± 18.3/81.9 ± 9.4 mmHg vs 152.5 ± 18.9/81.7 ± 12.3 mmHg, respectively). FMD significantly increased from 2.54% ± 1.45% at baseline to 3.11% ± 1.37% at 12 weeks (P = 0.0267), and PDMP significantly decreased from 13.9 ± 5.8 U/mL at baseline to 10.9 ± 4.5 U/mL at 12 weeks (P = 0.0002). Conclusion: Aliskiren improved vascular endothelial function and platelet-endothelium activation in patients on hemodialysis independent of antihypertensive effect