Refractory Crow-Fukase Syndrome (POEMS Syndrome) Successfully Treated with High-Dose Melphalan followed by Autologous Peripheral Blood Stem Cell Transplantation

Crow-Fukase syndrome (CFS) is a multisystemic disorder. Because it is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, sclerotic bone lesions, and skin changes it is also known as POEMS syndrome. Extravascular volume overload is also one of the main symptoms. Uncontrollable extravascular volume overload is one of the major causes of death and one of the negative prognostic factors. Control of the extravascular volume overload is an important therapeutic strategy for this syndrome. We report here a case of CFS with extravascular volume overload resulting in pleural effusion and massive edema in the lower extremities, which was refractory to oral administration of melphalan and prednisolone. The patient's condition correlated with the serum level of vascular endothelial growth factor and markedly improved after administration of high-dose melphalan (200 mg/m²) followed by autologous peripheral blood stem cell transplantation. This approach should be considered in patients with CFS who fail to respond to conventional chemotherapy and have uncontrollable extravascular volume overload.     

Long-term follow-up of atrioventricular delay optimization in patients with biventricular pacing.

BACKGROUND: Atrioventricular (AV) delay optimization may be important in patients with biventricular pacing and the optimal AV delay can be predicted using Doppler echocardiography and the formula: optimal AV delay = AV delay-the interval between the end of A wave and complete closure of the mitral valve when the AV delay is set at slightly prolonged AV delay. METHODS AND RESULTS: In the present study the efficacy of this method was evaluated in 5 patients (67.4+/-8.0 (SD) years old) with biventricular pacing. Cardiac output (CO) and diastolic filling time were measured by Doppler echocardiography. When the AV delay was set at the predicted optimal AV delay -25 ms, the predicted optimal AV delay (133+/-66 ms) and predicted optimal AV delay + 25 ms, the respective CO were 4.5+/-0.9, 5.3+/-1.0, 4.8+/-1.0 L/min (p<0.05, ANOVA) and the diastolic filling times were 364 +/-100, 373+/-105, 335+/-84 ms (p<0.05, ANOVA). Congestive heart failure improved from New York Heart Association class 3.6+/-0.5 to 1.4+/-0.5 (p<0.001). CONCLUSIONS: AV delay optimization is important in patients with biventricular pacing and can be easily achieved by the new method.     

R353Q polymorphism, activated factor VII, and risk of premature myocardial infarction in Japanese men.

BACKGROUND: The association between myocardial infarction (MI) and the R353Q polymorphism of the Factor VII (FVII) gene, which reportedly influences FVII concentrations, activated Factor VII (FVIIa), or FVII antigen (FVIIag), remains controversial. METHODS AND RESULTS: The present case - control study in 127 Japanese men with their first MI at or before 45 years of age and 150 matched healthy controls was designed to clarify this association in premature MI. R353Q polymorphism was determined by polymerase chain reaction, and plasma concentrations of FVIIa and FVIIag were assayed. The distribution of the RR, RQ, and QQ genotypes with respect to R353Q polymorphism was 117, 10, and 0 in the patients, and 131, 17, and 2 in the controls. The Q allele was negatively associated with premature MI (odds ratio =0.41, p=0.038). The plasma concentration of FVIIa was slightly higher in patients (55.1+/-40.9 U/L) than in controls (44.8+/-20.2 U/L), but not significantly (p=0.078); the plasma concentration of FVIIag did not differ between patients (88.7+/-15.7%) and controls (87.0+/-9.0%) (p=0.557). Plasma FVIIa concentrations were influenced by R353Q polymorphism (p<0.001). CONCLUSIONS: The Q allele may be protective against premature MI.     

Involvement of Krüppel-like factor 6 (KLF6) mutation in the development of nonpolypoid colorectal carcinoma

AIM: To examine Krüppel-like factor 6 (KLF6) mutations in nonpolypoid-type tumors and alterations of K-ras, p53,and B-raf in relation between mutation and morphologic type, particularly nonpolypoid-type colorectal carcinomas.METHODS: Fifty-five early nonpolypoid colorectal carcinomas were analyzed. Loss of heterozygosity (LOH) of KLF6 and p53 was determined by microsatellite assay.Mutations of KLF6, K-ras, and B-raf were examined by polymerase chain reaction-single-strand conformation polymorphism followed by direct sequencing. In LOH-positive and/or mutation-positive tumors, multiple (4-7) samples in each tumor were microdissected and examined for genetic alterations, p53 expression was evaluated by immunohistochemistry.RESULTS: LOH of KLF6 and p53 was found in 14 of 29 (48.3%) and 14 of 31 (45.2%) tumors, respectively. In 10 of the 14 (71.4%) KLF6 LOH-positive tumors and 9 of the 14 (64.3%) p53 LOH-positive tumors, LOH was found in all of the microdissected samples. In 1 of the 10 (10.0%) KLF6 LOH-positive tumors, a single missense mutation was identified. K-ras and B-raf mutations were found in 5 of 55 (9.1%) and 6 of 55 (10.9%) tumors,respectively. However, these mutations were detected only in subsets of microdissected tumor samples.CONCLUSION: These data suggest that KLF6 and p53 mutations are involved in the development of nonpolypoid colorectal carcinoma, whereas K-ras and B-raf mutations are not.     

Antimicrobial susceptibility tests and resistant strain of Helicobacter pylori

The antimicrobial susceptibility test was necessary for the eradication therapy of Helicobacter pylori infections. This is because, clarithromycin resistant strains has became an increasing problem. In this study, we used the antimicrobial susceptibility test which was compare with the agar gradient method, Etest, and broth microdilution method (dry plate) with 4 antimicrobial agents. The results strongly suggested that broth microdilution method was the best method in order to test the antimicrobial susceptibility of H. pylori. On the other hand, 393 H. pylori stains isolated during 1994-1998 from clinical patients were tested for antimicrobial susceptibility test to amoxicillin, clarithromycin, metronidazole, and minomycin. There were no resistant strains to amoxicillin and minomycin. But clarithromycin and Metronidazole resistant strains were recognized in 85 (22.0%) and 36 (21.7%) strains.     

Paroxysmal atrial fibrillation coincident with cardiac decompensation is a predictor of poor prognosis in chronic heart failure.

BACKGROUND: The prognostic significance of atrial fibrillation (AF) in chronic heart failure (CHF) remains poorly understood. METHODS AND RESULTS: Death and rehospitalizaion for CHF exacerbation for 427 consecutive patients hospitalized from 1996 to 2002 were retrospectively analyzed in relation to cardiac rhythm: sinus rhythm (SR; n=239) or AF (n=188). The AF group was classified according to an Intervention (n=57) or Non-Intervention (n=131) group for defibrillating AF. During the follow-up of 34+/-23 months, there was no significant difference of mortality or morbidity between the SR and AF groups, or between the Intervention and Non-Intervention groups, respectively. However, the Non-Intervention group consisted of 28 patients with paroxysmal AF (PAF), which spontaneously converted to SR during hospitalization, and 103 with chronic AF (CAF). The rehospitalization for CHF exacerbation was significantly higher in PAF than that in CAF and SR (p=0.00005 and 0.002, respectively). Multivariate Cox analysis demonstrated that, PAF, but not CAF, was a predictor of readmission (relative risk 2.30, p=0.004, 95% confidence interval 1.30 to 4.05). CONCLUSIONS: The present data implied that PAF coincident with cardiac decompensation could be a new predictor of prognosis for CHF. The management strategies of AF in CHF should be discussed according to the phenotype of AF.     

A tomato-rich diet is related to depressive symptoms among an elderly population aged 70 years and over: A population-based,cross-sectional analysis

BackgroundEnhanced oxidative stress or defective anti-oxidant defenses are related to the pathogenesis of depressive symptoms. Lycopene is the most powerful antioxidant amongst the carotenoids. The aim of this study was to investigate the relationship between different vegetables, including tomatoes/tomato products (a major source of lycopene), and depressive symptoms in a community-based elderly population.MethodsWe analyzed a cross-sectional survey including 986 community-dwelling elderly Japanese individuals aged 70 years and older. Dietary intake was assessed using a valid self-administered diet-history questionnaire, and depressive symptoms were evaluated using the 30-item Geriatric Depression Scale with 2 cut-off points: 11 (mild and severe) and 14 (severe) or use of anti-depressive agents.ResultsThe prevalence of mild and severe and severe depressive symptoms was 34.9% and 20.2%, respectively. After adjustments for potentially confounding factors, the odds ratios of having mild and severe depressive symptoms by increasing levels of tomatoes/tomato products were 1.00, 0.54, and 0.48 (p for trend <0.01). Similar relationships were also observed in the case of severe depressive symptoms. In contrast, no relationship was observed between intake of other kinds of vegetables and depressive symptoms.LimitationsThis is a cross-sectional study, and not for making a clinical diagnosis of depressive episodes.ConclusionsThis study demonstrated that a tomato-rich diet is independently related to lower prevalence of depressive symptoms. These results suggest that a tomato-rich diet may have a beneficial effect on the prevention of depressive symptoms. Further studies are needed to confirm these findings.     

Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis

BackgroundPallister-Killian syndrome (PKS) is a rare disorder caused by the mosaic tetrasomy of chromosome 12p, and is characterized by facial dysmorphism, developmental delay, hypotonia and seizures.ResultsWe report a patient with PKS showing unique polymicrogyria with calcification. He had delayed development and dysmorphic facial features including frontal bossing, hypertelorism, and high arched palate at 6 months of age. Neuroimaging revealed unilateral polymicrogyria with spot calcifications, which predominantly affected the right perisylvian region. Chromosome G-banding showed the karyotype 46,XY, however, array-based comparative genomic hybridization analysis showed mosaic duplication of chromosome 12p, in which CCND2, which encodes cyclin D2 and is a downstream mediator of PI3K-AKT pathway, is located. Supernumerary chromosome of 12p was detected in 58% of buccal mucosa cells by the interphase fluorescence in situ hybridization analysis using chromosome 12 centromere-specific D12Z3 probe. The diagnosis of PKS was made based on distinctive clinical features of our patient and the results of cytogenetic analyses.ConclusionThis report is, to our knowledge, the first case of a patient with PKS who clearly demonstrates polymicrogyria colocalized with calcifications, as shown by CT scans and MRI, and suggests that a patient with PKS could show structural brain anomalies with calcification. We assume that somatic mosaicism of tetrasomy could cause asymmetrical polymicrogyria in our patient, and speculate that increased dosages of CCND2 at chromosome 12p might be involved in the abnormal neuronal migration in PKS.     

Gross anatomical study of bilateral megaureters associated with renal pelvis dilatation and a giant urinary bladder: an adult cadaver with a brief review of the literature

Although bilateral megaureters are not an infrequent occurrence in the urinary tract, bilateral megaureters associated with bilateral renal pelvis dilatation and a giant urinary bladder appear to be rare. In this paper, a cadaver case of an adult Japanese male with bilateral megaureters is described. In addition to describing and illustrating this case, the anatomy and etiology of these anomalous structures is discussed with a brief review of the literature.