A case of motor neuron involvement in Gaucher disease.

Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient.

Analysis of prognostic factors in patients with refractory anemia with excess of blasts (RAEB) reclassified according to WHO proposal.

The WHO classification subdivides the FAB RAEB category into RAEB-1 (bone marrow (BM) blasts <10%, peripheral blasts <5%) and RAEB-2 (bone marrow blasts >10% and peripheral blasts >5%). We reclassified according to WHO criteria 228 RAEB patients and analysed them in terms of haematological, karyotypic and prognostic features. We used the database of 680 MDS patients referred to our Institution from 1990 to 2000. Clinical features at presentation, such as sex, age, leukocyte count, polymorphonuclear cell count (PMN), platelet count, haemoglobin level, presence of one or more lineage dysplasia were tested in univariate and multivariate analysis in the two groups of RAEB-1 and RAEB-2 reclassified patients. In multivariate analysis we identified prognostic significant factors in the two patient groups, which consisted of age >70 years and platelet count <100 x 10(9)l(-1) for RAEB-1 category, while for RAEB-2 group parameters negatively influencing survival and risk of progression were haemoglobin <10g/dl, platelet count <100 x 10(9)l(-1), bone marrow blastosis >15% and complex karyotype. We also found differences in cytogenetic data (more balanced translocations and complex karyotypes in RAEB-2 group, p=0.02), and in survival (23.3 months in RAEB-1 vs. 16.1 months in RAEB-2 group, p=0.001). WHO classification provides valuable prognostic information for RAEB patient population, and can identify those subjects with more unfavourable prognosis who should be offered alternative therapeutic strategies.

Adequacy and nutrition in the absence of residual renal function in peritoneal dialysis.

With the aim of evaluating nutrition indices and dialysis adequacy level in patients who started peritoneal dialysis (PD) without residual renal function, we retrospectively studied 19 patients [8 men, 11 women; 3 with diabetes (15.8%); mean age: 44.5 +/- 10.74 years; 15 on continuous ambulatory peritoneal dialysis (CAPD), 3 on continuous cycling peritoneal dialysis (CCPD), 1 on nightly intermittent peritoneal dialysis (NIPD)]. The mean time spent by these patients on hemodialysis before PD was 62.7 +/- 54.7 months (range: 8.8-216 months), and the mean time on PD was 46.2 +/- 21.4 months (range: 10-75 months). In these patients, we measured weekly Kt/V urea, weekly creatinine clearance (CrC), normalized protein catabolic rate (nPCR), body surface area (BSA), urea distribution volume (V), serum albumin, body mass index (BMI), percent lean body mass (%LBM), infusion volume (liters per day), subjective global assessment (SGA), and peritoneal equilibration test (PET). Using the Student t-test at a significance level of p < 0.05, we compared initial body weight (INW), actual weight (AW), and ideal body weight (IBW) according to age, sex, and height. We analyzed actuarial and technique survival (Kaplan-Meier). In regard to patient survival, only death was considered the end point; for technique survival, only technique failure was considered the end point. Data are expressed as mean +/- standard deviation. Results were: Kt/V, 2.20 +/- 0.46 L weekly; CrC, 59.11 +/- 12 L weekly; nPCR, 1.08 +/- 0.25 g/kg daily; BSA, 1.67 +/- 0.2 m2; V, 33.34 +/- 7.12; serum albumin, 3.68 +/- 0.22 g/dL; BMI, 24.06 +/- 4.16; %LBM, 64.92 +/- 10.13; SGA, 94.7% well-nourished; AW, 65.37 +/- 13.88 kg; IBW, 67.21 +/- 10.5 kg (AW vs IBW: r = 0.69, p > 0.05); INW, 61.54 +/- 11.07 kg (INW vs AW: r = 0.92, p < 0.05; INW vs IBW: r = 0.71, p < 0.05). Distribution of transport status by PET was 15.8% high transport, 36.8% high-average transport, 36.8% low-average transport, and 10.5% low transport. Mean infusion volume was 10.41 +/- 1.36 L in 24 hours. Cumulative survival was 100%, 98%, and 82% after 1, 2, and 6 years respectively. Technique survival was 100% after 6 years. The adequacy results accord with Dialysis Outcomes Quality Initiative (DOQI) recommendations, and the nutrition indices and actuarial and technique survival are satisfactory for anuric patients.

Effectiveness of a self-instructional module in human sexuality counseling.

The nursing profession has begun to address the issue of sexual health counseling by nurses, thus moving toward the goal of providing holistic patient care. Since the professional preparation of the nurse as a sexual health teacher and counselor requires substantive changes in existing nursing curricula, some nursing educators and practitioners have initiated efforts to determine appropriate educational experiences for nurses. This study evaluated the effectiveness of a self-instructional module developed by the investigator to prepare nursing students for dealing with the sexuality concerns of male myocardial infarction patients. Using a pretest-posttest control group design, the evaluation was carried out through field testing of the module on a convenience sample of 161 nursing students in four baccalaureate programs in the United States. Field testing consisted of administration of the module, together with pre-posttesting of subjects on a knowledge inventory and a behavioral intensions/comfort inventory. Following administration of the module, experimental subjects' scores indicated significant increases in knowledge of sexuality counseling of MI patients (p less than .001) and comfort in dealing with patients' sexuality concerns (p less than .001).