Outcome analysis of the urethral stent (Memotherm®)

A number of patients with benign prostatic hyperplasia can not undergo surgical therapy because of advanced age, concomitant diseases, and other reasons. Since 1980, various types of urethral stents have been used for high-risk patients with benign prostatic hyperplasia. We report our experience with the use of urethral stents (Memotherm?). Between July 2002 and December 2010, we implanted urethral stents in 36 patients. The average follow-up period was 24.0 months. After stent implantation, 34 of the 36 patients were able to micturate. The average residual urine volume was 24.7 ml (0-250 ml), and the maximal urinary flow rate was 10.7 ml/s (3-24 ml/s). One stent had to be removed due to bladder tamponade, and one had to be exchanged due to dislocation. In 2 patients, a stone formed at the bladder end of the stent, and one of these patients underwent transurethral lithotripsy. Our results suggest that therapy with the Memotherm? urethral stent is a good option for patients suffering from urinary retention due to benign prostatic hyperplasia.     

Spontaneous movements in the supine position of healthy term infants and preterm infants with or without periventricular leukomalacia

Aim: The individual motor elements presumed to be essential for motor development were determined from spontaneous movements involving the entire body of normal term and preterm infants. Then, diagnostic items for motor abnormality in infants with periventricular leukomalacia (PVL) were investigated. Methods: Video recordings of 24 healthy term infants, 21 normal preterm infants (8 males, 13 females; median gestational age 30 weeks; median birth weight 1216 g) and 14 preterm infants with PVL (6 males, 8 females; median gestational age 30 weeks; median birth weight 1360 g) were analyzed. Results: In healthy term infants, predominant shoulder rotation was noticed until 1 month of age. After 2 months of age, isolated movements of the shoulder, elbow, hip, knee, and ankle frequently emerged. In preterm infants with PVL at the corrected age of 2 months, startle response and predominant shoulder rotation were more frequently seen and isolated neck, shoulder, elbow, hip, knee, and ankle movements were less frequently seen than in the normal preterm infants (Fisher’s exact test, p < 0.025). Interpretation: At 2 months of age, isolated movements evolve, and their failure to occur is suggested to be a useful sign for the diagnosis of cerebral motor disorders.     

Analyses of the MAPT,PGRN, and C9orf72 mutations in Japanese patients with FTLD,PSP, and CBS

BackgroundMutations in the microtubule associated protein tau (MAPT) and progranulin (PGRN) have been identified in several neurodegenerative disorders, such as frontotemporal lobar degeneration (FTLD), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). Recently, C9orf72 repeat expansion was reported to cause FTLD and amyotrophic lateral sclerosis (ALS). To date, no comprehensive analyses of mutations in these three genes have been performed in Asian populations. The aim of this study was to investigate the genetic and clinical features of Japanese patients with MAPT, PGRN, or C9orf72 mutations.MethodsMAPT and PGRN were analyzed by direct sequencing and gene dosage assays, and C9orf72 repeat expansion was analyzed by repeat-primed PCR in 75 (48 familial, 27 sporadic) Japanese patients with FTLD, PSP, or CBS.ResultsWe found four MAPT mutations in six families, one novel PGRN deletion/insertion, and no repeat expansion in C9orf72. Intriguingly, we identified a de novo MAPT p.S285R mutation. All six patients with early-onset PSP and the abnormal eye movements that are not typical of sporadic PSP had MAPT mutations. The gene dosages of MAPT and PGRN were normal.DiscussionMAPT p.S285R is the first reported de novo mutation in a sporadic adult-onset patient. MAPT mutation analysis is recommended in both familial and sporadic patients, especially in early-onset PSP patients with these abnormal eye movements. Although PGRN and C9orf72 mutations were rare in this study, the PGRN mutation was found in this Asian FTLD. These genes should be studied further to improve the clinicogenetic diagnoses of FTLD, PSP, and CBS.     

Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1

BackgroundProgressive external ophthalmoplegia (PEO) and parkinsonism can be caused by genetic mutations that affect mitochondrial DNA (mtDNA) maintenance. We characterized parkinsonism in a family with dominantly inherited PEO.MethodsWe conducted clinical, histological and genetic analyses on two affected members suffering from PEO and parkinsonism, and reviewed the cases in the literature. To clarify parkinsonism related to multiple mtDNA deletions, we used 3-T neuromelanin magnetic resonance imaging (MRI) to assess signal changes in the substantia nigra (SN) and locus ceruleus (LC) in our patients, and compared the results to those observed in idiopathic Parkinson's disease (iPD) (n = 35).ResultsWe report the first case of a Japanese family harboring a heterozygous p.Y955C mutation in POLG1. The clinical features of parkinsonism related to the Y955C mutation in a total of 16 patients, including our two cases, are indistinguishable from iPD. However, neuromelanin MRI showed a distinct pattern in our cases compared to iPD. The neuromelanin imaging results were consistent with the neuropathological findings reported in cases of POLG1 mutations, in which neurons of the SN were profoundly affected while those in the LC were preserved.ConclusionsOur results suggest that 3-T neuromelanin MRI may be useful for differentiating POLG1 mutation-associated parkinsonism from iPD, and that POLG1 mutations may cause selective neuronal loss in the SN via a mechanism different from that of iPD.     

Metabolic syndrome correlates with polyvascular lesions detected by systemic vascular ultrasonography in Japanese people with type 2 diabetes

Atherosclerosis is a systemic disease of blood vessels. We investigated clinical characteristics of Japanese type 2 diabetic patients with polyvascular lesions detected by systemic vascular ultrasonography. The results showed that the metabolic syndrome correlated with polyvascular lesions detected by systemic vascular ultrasonography in Japanese type 2 diabetics.     

Low serum testosterone is associated with atherosclerosis in postmenopausal women undergoing hemodialysis

Background

Low serum testosterone levels have been recently linked to endothelial dysfunction, arterial stiffness, and worse outcomes in male hemodialysis patients. We tested the hypothesis that low serum testosterone levels are also associated with atherosclerosis risk factors in postmenopausal women undergoing hemodialysis.

Methods

We measured serum testosterone in 115 confirmed postmenopausal ethnically Japanese women undergoing hemodialysis with mean age of 68.1 ± 10.6 years and median dialysis vintage of 73 months. The severity of atherosclerosis was evaluated by carotid intima–media thickness (cIMT) and cardio–ankle vascular index (CAVI). In addition, we also included a control cohort of 32 age-matched postmenopausal women without chronic kidney disease.

Results

Serum testosterone was significantly lower in women undergoing hemodialysis than in age-matched controls. Women undergoing hemodialysis who had undetectable testosterone concentration presented higher cIMT and higher CAVI than women undergoing hemodialysis with testosterone concentration above detection limits (P < 0.05 for all). Multiple logistic regression analyses confirmed the independence of these associations.

Conclusion

Serum testosterone levels in postmenopausal women undergoing hemodialysis are abnormally low and associated with features of atherosclerosis.     

Close Association between Subclinical Atherosclerosis and Pulmonary Function in Middle-Aged Male Smokers

Aims: Cigarette smoking provokes deleterious influences on cardiovascular and pulmonary systems, although the underlying relationship has not been sufficiently investigated especially in early-stage disease. The present study investigated possible associations between subclinical atherosclerosis and pulmonary function in middle-aged male smokers.Methods: Male smokers undergoing their periodic health check-up were enrolled in this study (n = 3,775, 45 ± 8 years). Pulmonary function was evaluated using spirometry by calculating forced vital capacity (FVC) as a percentage of predicted value (FVC%-predicted), forced expiratory volume in one second (FEV1) as a percentage of predicted value (FEV1%-predicted), and the ratio of FEV1 to FVC (FEV1/FVC). Subclinical atherosclerosis was assessed based on ankle-brachial pressure index (ABI), cardio-ankle vascular index (CAVI), ultrasound examination of the carotid intima-media thickness (IMT), and presence of plaque.Results: Multivariate regression analysis showed that ABI was positively associated with FVC%-predicted and FEV1%-predicted after adjustment for confounders including smoking intensity, while CAVI or carotid IMT was inversely associated with both. Participants with chronic obstructive pulmonary disease (COPD, n = 256) showed reduced ABI and increased CAVI or carotid IMT compared with those without COPD, and participants with carotid plaque had lower pulmonary function than those without plaque. Reduced FEV1/FVC was an independent determinant of carotid plaque and decreased ABI was an independent determinant of COPD, as revealed by logistic regression analysis with the endpoint of carotid plaque presence or a diagnosis of COPD revealed.Conclusions: Middle-aged male smokers showed a close association between subclinical atherosclerosis and pulmonary function, implying that smoking induced-vascular and pulmonary damage are interacting in early-stage disease.