POEMS syndrome: a case report

A case of POEMS syndrome in a 43-year-old male with polyneuropathy, osteolytic lesion of the basin due to solitary IgA-lambda plasmacytoma, cutaneous scleroderma-like changes, diffuse lymphadenopathy and hepatosplenomegaly is described. Liver biopsy showed a regenerative process of the parenchyma without laboratory and histologic evidence of necrosis. A peculiar finding was the onset of a right hemiparesis in the absence of signs of vascular disease or other predisposing factors. The possible links between the peculiar elements of the POEMS syndrome are briefly analyzed and discussed.     

Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy.

BACKGROUND: In Fabry disease, end-stage renal disease (ESRD) and severe neurologic and cardiac complications represent the leading causes of late morbidity and mortality. A comprehensive Italian nationwide survey study was conducted to explore changes in cardiac status and renal allograft function in Fabry patients on renal replacement therapy (RRT) and enzyme replacement therapy (ERT). METHODS: This study was designed as a cross-sectional survey study with prospective follow-up. Of the 34 patients identified via searches in registries, 31 males and 2 females who received RRT and ERT (agalsidase beta in 30 patients, agalsidase alpha in 3) were included. Left ventricular mass index (LVMI), interventricular septal thickness at end diastole (IVSD), left ventricular posterior wall thickness (LVPWT) and renal allograft function were assessed at ERT baseline and subsequently at yearly intervals. RESULTS: The patients in the dialysis and transplant groups had been started on dialysis at age 42.0 and 37.1 years (mean), respectively, and patients in the transplant group received their renal allograft at age 39.8 years (mean). The mean age at the start of ERT was similar, 44.1 and 44.6 years, respectively. The mean RRT follow-up was 61.1 and 110.6 months for dialysis and transplant patients, respectively, whereas the ERT duration was 45.1 and 48.4 months, respectively. Cardiac parameters increased in dialysis patients. In transplant patients, mean LVMI seemed to plateau during agalsidase therapy at a lower level as compared to baseline. Decline in renal allograft function was relatively mild (-1.92 ml/min/year). Agalsidase therapy was well tolerated. Serious ERT-unrelated events occurred more often in the dialysis group. CONCLUSIONS: Kidney transplantation should be the standard of care for Fabry patients progressing towards ESRD. Transplanted Fabry patients on ERT may do better than patients remaining on maintenance dialysis. Larger, controlled studies in Fabry patients with ESRD will have to demonstrate if ERT is able to change the trajectory of cardiac disease and can preserve graft renal function.     

Reduced acetylcholine-induced channel activity in dystrophic mouse myotubes

Single channel recording patch-clamp technique was used in the mouse to compare the acetylcholine (ACh)-induced channel behaviour between normal and dystrophic myotubes. While open time and slope conductance were equivalent, ACh-induced channel opening frequency was more than 4-fold reduced in dystrophic compared to normal myotubes. In addition, the steady-state phosphorylation of the ACh receptor (AChR), tested by immunoprecipitation of 32P-labeled cells, indicated that the alpha-subunit was more heavily phosphorylated in the dystrophic myotubes. We propose that the degree of alpha-subunit phosphorylation of the AChR, which parallels the reduced AChR-channel opening probability, determines desensitization of the AChR in dystrophic myotubes.     

Evaluation of cerebral blood flow data in stroke patients using a mapping system

We retrospectively examined regional cerebral blood flow values in 78 patients in the stabilized phase of stroke to evaluate the consistency of lateralization compared with computed tomographic imaging. Examinations were performed using the xenon-133 inhalation technique, and the data were processed and displayed by a computer-assisted system of our own design that allows statistical analysis in real time and is suitable for clinical use. The consistency of lateralization correlated with computed tomographic findings was tested for absolute values, percent distribution, and asymmetries. The latter yielded the highest degree of sensitivity (in 83.3% of the patients the affected hemisphere was correctly identified). Absolute values showed at least one hypoperfused area in the affected hemisphere in 48.7% of the patients, and percent distribution did so in 57.7%. Furthermore, the combination of the three methods of data analysis yielded a sensitivity of 91%; the remaining 9% of the patients, however, exhibited some abnormalities of regional cerebral blood flow (bilateral or contralateral hypoperfusion). Although good agreement was found for lateralization by computed tomography and by the combined use of the three methods of analysis, a complete overlap between functional and structural examinations should not be expected. Problems concerning the sensitivity of the xenon-133 inhalation technique under conditions of low blood flow and the statistical analysis of regional cerebral blood flow data are discussed.     

Cerebral blood flow in minor cerebral contusion

Seventeen patients with minor cerebral contusion were selected from a series of patients with head injuries of various severity, who had undergone repeat evaluations of the regional cerebral blood flow. The mean global flow (expressed as mean global initial slope index) on early examination was found to be significantly lower, compared with that recorded in healthy volunteers. A tendency towards the recovery of higher flow values was apparent in repeat evaluations that were performed several weeks after the injury. Interhemispheric asymmetries of flow were a common occurrence, with lower perfusion and reduced attenuation values on computed tomography scans being, however, in good agreement only in approximately half of the cases.     

Hemobilia from ruptured hepatic artery aneurysm: angiographic demonstration of arteriobiliary fistula in a successfully treated case

Rupture of a hepatic artery aneurysm into the biliary tree is a rare cause of hemobilia. The dramatic nature of the disease and the difficulties in obtaining a preoperative diagnosis are the main causes of its high mortality rate. Progress in vascular radiology and surgery seems to be an important factor in improving the survival rates in patients with this type of hemobilia. A case of a patient with an aneurysm of the common hepatic artery ruptured into the common bile duct is reported. Preoperative arteriography revealed the aneurysm and the arteriobiliary fistula causing massive hemobilia. The patient was successfully treated by arterial ligation and is symptom free after 2 years.     

Glycopeptide alterations induced by 12-O-tetradecanoyl phorbol-13-acetate in chick embryo cultured myotubes

The tumor promoter 12-O-tetradecanoyl phorbol-13-acetate (TPA)specifically inhibits the expression of differentiative traitsin cultured chick embryo myotubes, without inducing them toreenter the cell cycle. We evaluated the effect of TPA on glycoconjugatesynthesis in cultured myotubes under various experimental conditions.Radioactively labelled glycoconjugates were obtained by labellingcontrol and TPA treated cultured myotubes with radioactive monosaccharides.After chloroform-methanol extraction and extensive pronase digestion,the glycoconjugates were separated on the basis of size on SephadexG 50 columns. A relative enrichment in larger glycopeptideswas induced by TPA treatment of myotubes for 24 or 48 h. Glycopeptidegroups were further analyzed by affinity chromatography on ConASepharose columns. A marked and reproducible decrease in theaffinity of medium size glycopeptides for ConA was observedas a result of TPA treatment of cultured myotubes. These modificationsare reversible upon removal of the tumor promoter from the culturemedium of pretreated myotubes. The reported effects of TPA,closely resembling those occurring in transformed cells, appearto be due to structural modifications of glycopeptides whosemechanism and role in transformation and modulation of differentiationare discussed.     

Supra-ampullar cystectomy and ileal neobladder

OBJECTIVE: This article describes both the open and laparoscopic operative techniques of supra-ampullar cystectomy (SAC). METHODS: Both open (photographs and drawings) and laparoscopic (attached DVD) SAC are explained step by step. RESULTS: Between May 1984 and December 2005, 31 patients with bladder tumour underwent SAC with ileal orthotopic neobladder (2 Camey I, 26 Camey II, and 3 Y). Three patients underwent laparoscopy. Preoperatively, 26 patients had superficial high-risk transitional cell carcinoma (TCC). Median follow-up was 95.0 mo (range: 5-260 mo). The 10-yr cause-specific survival rate was 76.7%. Two patients had local recurrence. Potency was preserved in 28 patients (90.3%); 15 patients (48.3%) also maintained antegrade ejaculation, allowing procreation in 3 cases. In one patient the Camey I neobladder was converted into an ileal conduit (high postvoid residual, recurrent pyelonephritis). None of the remaining patients had daytime incontinence, eight had nightime urinary incontinence, and six performed intermittent self-catheterisation. CONCLUSION: SAC with detubularised ileal orthotopic neobladder allows preservation of sexual function and maintenance of urinary continence in most patients, without compromising oncologic outcome. The key element is the very strict and careful preoperative selection of the patients.